Incidental Mutation 'R1901:Ank3'
ID 212230
Institutional Source Beutler Lab
Gene Symbol Ank3
Ensembl Gene ENSMUSG00000069601
Gene Name ankyrin 3, epithelial
Synonyms AnkG, Ankyrin-3, Ank-3, Ankyrin-G, 2900054D09Rik
MMRRC Submission 039921-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R1901 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 69234608-69863266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69658167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 198 (T198S)
Ref Sequence ENSEMBL: ENSMUSP00000090087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047061] [ENSMUST00000054167] [ENSMUST00000092431] [ENSMUST00000092432] [ENSMUST00000092434] [ENSMUST00000182155] [ENSMUST00000183148] [ENSMUST00000182884] [ENSMUST00000183240] [ENSMUST00000183169] [ENSMUST00000182992] [ENSMUST00000182993] [ENSMUST00000182557] [ENSMUST00000218680] [ENSMUST00000182439]
AlphaFold G5E8K5
Predicted Effect probably benign
Transcript: ENSMUST00000047061
SMART Domains Protein: ENSMUSP00000045834
Gene: ENSMUSG00000069601

DomainStartEndE-ValueType
ZU5 56 160 2.27e-58 SMART
DEATH 541 635 5.8e-33 SMART
low complexity region 676 696 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000054167
AA Change: T198S
SMART Domains Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 1.01e-5 SMART
ANK 89 118 1.66e-6 SMART
ANK 122 151 1.1e-6 SMART
ANK 155 183 6.51e0 SMART
ANK 184 213 2.6e1 SMART
ANK 217 246 1.31e-4 SMART
ANK 250 279 5.88e-7 SMART
ANK 283 312 3.23e-4 SMART
ANK 316 345 8.07e-5 SMART
ANK 349 378 1.53e-5 SMART
ANK 382 411 3.88e-7 SMART
ANK 415 444 1.99e-4 SMART
ANK 448 477 9.41e-6 SMART
ANK 481 510 1.14e-4 SMART
ANK 514 543 2.94e-7 SMART
ANK 547 576 3.33e-6 SMART
ANK 580 609 4.56e-4 SMART
ANK 613 642 8.19e-6 SMART
ANK 646 675 5.24e-4 SMART
ANK 679 708 6.46e-4 SMART
ANK 712 741 6.21e-6 SMART
ANK 745 774 1.43e-5 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 867 884 N/A INTRINSIC
ZU5 944 1048 2.27e-58 SMART
DEATH 1429 1523 5.8e-33 SMART
low complexity region 1760 1780 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092431
AA Change: T198S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 1.01e-5 SMART
ANK 89 118 1.66e-6 SMART
ANK 122 151 1.1e-6 SMART
ANK 155 183 6.51e0 SMART
ANK 184 213 2.6e1 SMART
ANK 217 246 1.31e-4 SMART
ANK 250 279 5.88e-7 SMART
ANK 283 312 3.23e-4 SMART
ANK 316 345 8.07e-5 SMART
ANK 349 378 1.53e-5 SMART
ANK 382 411 3.88e-7 SMART
ANK 415 444 1.99e-4 SMART
ANK 448 477 9.41e-6 SMART
ANK 481 510 1.14e-4 SMART
ANK 514 543 2.94e-7 SMART
ANK 547 576 3.33e-6 SMART
ANK 580 609 4.56e-4 SMART
ANK 613 642 8.19e-6 SMART
ANK 646 675 5.24e-4 SMART
ANK 679 708 6.46e-4 SMART
ANK 712 741 6.21e-6 SMART
ANK 745 774 1.43e-5 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 885 902 N/A INTRINSIC
ZU5 962 1066 2.27e-58 SMART
DEATH 1447 1541 5.8e-33 SMART
low complexity region 1778 1798 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000092432
AA Change: T198S

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 1.01e-5 SMART
ANK 89 118 1.66e-6 SMART
ANK 122 151 1.1e-6 SMART
ANK 155 183 6.51e0 SMART
ANK 184 213 2.6e1 SMART
ANK 217 246 1.31e-4 SMART
ANK 250 279 5.88e-7 SMART
ANK 283 312 3.23e-4 SMART
ANK 316 345 8.07e-5 SMART
ANK 349 378 1.53e-5 SMART
ANK 382 411 3.88e-7 SMART
ANK 415 444 1.99e-4 SMART
ANK 448 477 9.41e-6 SMART
ANK 481 510 1.14e-4 SMART
ANK 514 543 2.94e-7 SMART
ANK 547 576 3.33e-6 SMART
ANK 580 609 4.56e-4 SMART
ANK 613 642 8.19e-6 SMART
ANK 646 675 5.24e-4 SMART
ANK 679 708 6.46e-4 SMART
ANK 712 741 6.21e-6 SMART
ANK 745 774 1.43e-5 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 888 905 N/A INTRINSIC
ZU5 965 1069 2.27e-58 SMART
DEATH 1450 1544 5.8e-33 SMART
low complexity region 1781 1801 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000092434
AA Change: T198S
SMART Domains Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 6.5e-8 SMART
ANK 89 118 1.1e-8 SMART
ANK 122 151 7.1e-9 SMART
ANK 155 183 4.2e-2 SMART
ANK 184 213 1.7e-1 SMART
ANK 217 246 8.4e-7 SMART
ANK 250 279 3.8e-9 SMART
ANK 283 312 2.1e-6 SMART
ANK 316 345 5.3e-7 SMART
ANK 349 378 9.9e-8 SMART
ANK 382 411 2.5e-9 SMART
ANK 415 444 1.3e-6 SMART
ANK 448 477 6e-8 SMART
ANK 481 510 7.4e-7 SMART
ANK 514 543 1.9e-9 SMART
ANK 547 576 2.2e-8 SMART
ANK 580 609 3e-6 SMART
ANK 613 642 5.4e-8 SMART
ANK 646 675 3.3e-6 SMART
ANK 679 708 4.3e-6 SMART
ANK 712 741 3.9e-8 SMART
ANK 745 774 9.1e-8 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 906 923 N/A INTRINSIC
ZU5 983 1087 1.1e-60 SMART
DEATH 1468 1562 3.8e-35 SMART
low complexity region 1799 1819 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000182155
AA Change: T198S
SMART Domains Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 1.01e-5 SMART
ANK 89 118 1.66e-6 SMART
ANK 122 151 1.1e-6 SMART
ANK 155 183 6.51e0 SMART
ANK 184 213 2.6e1 SMART
ANK 217 246 1.31e-4 SMART
ANK 250 279 5.88e-7 SMART
ANK 283 312 3.23e-4 SMART
ANK 316 345 8.07e-5 SMART
ANK 349 378 1.53e-5 SMART
ANK 382 411 3.88e-7 SMART
ANK 415 444 1.99e-4 SMART
ANK 448 477 9.41e-6 SMART
ANK 481 510 1.14e-4 SMART
ANK 514 543 2.94e-7 SMART
ANK 547 576 3.33e-6 SMART
ANK 580 609 4.56e-4 SMART
ANK 613 642 8.19e-6 SMART
ANK 646 675 5.24e-4 SMART
ANK 679 708 6.46e-4 SMART
ANK 712 741 6.21e-6 SMART
ANK 745 774 1.43e-5 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 867 884 N/A INTRINSIC
ZU5 944 1048 2.27e-58 SMART
DEATH 1429 1523 5.8e-33 SMART
low complexity region 1564 1584 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182162
Predicted Effect possibly damaging
Transcript: ENSMUST00000183148
AA Change: T198S

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 1.01e-5 SMART
ANK 89 118 1.66e-6 SMART
ANK 122 151 1.1e-6 SMART
ANK 155 183 6.51e0 SMART
ANK 184 213 2.6e1 SMART
ANK 217 246 1.31e-4 SMART
ANK 250 279 5.88e-7 SMART
ANK 283 312 3.23e-4 SMART
ANK 316 345 8.07e-5 SMART
ANK 349 378 1.53e-5 SMART
ANK 382 411 3.88e-7 SMART
ANK 415 444 1.99e-4 SMART
ANK 448 477 9.41e-6 SMART
ANK 481 510 1.14e-4 SMART
ANK 514 543 2.94e-7 SMART
ANK 547 576 3.33e-6 SMART
ANK 580 609 4.56e-4 SMART
ANK 613 642 8.19e-6 SMART
ANK 646 675 5.24e-4 SMART
ANK 679 708 6.46e-4 SMART
ANK 712 741 6.21e-6 SMART
ANK 745 774 1.43e-5 SMART
low complexity region 802 813 N/A INTRINSIC
ZU5 943 1047 2.27e-58 SMART
DEATH 1416 1510 7.66e-33 SMART
low complexity region 1747 1767 N/A INTRINSIC
low complexity region 1893 1902 N/A INTRINSIC
low complexity region 1904 1916 N/A INTRINSIC
low complexity region 1942 1954 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182194
Predicted Effect unknown
Transcript: ENSMUST00000182884
AA Change: T198S
SMART Domains Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 6.4e-8 SMART
ANK 89 118 1.1e-8 SMART
ANK 122 151 7e-9 SMART
ANK 155 183 4.1e-2 SMART
ANK 184 213 1.7e-1 SMART
ANK 217 246 8.2e-7 SMART
ANK 250 279 3.7e-9 SMART
ANK 283 312 2.1e-6 SMART
ANK 316 345 5.2e-7 SMART
ANK 349 378 9.7e-8 SMART
ANK 382 411 2.4e-9 SMART
ANK 415 444 1.3e-6 SMART
ANK 448 477 5.9e-8 SMART
ANK 481 510 7.3e-7 SMART
ANK 514 543 1.9e-9 SMART
ANK 547 576 2.1e-8 SMART
ANK 580 609 2.9e-6 SMART
ANK 613 642 5.3e-8 SMART
ANK 646 675 3.2e-6 SMART
ANK 679 708 4.2e-6 SMART
ANK 712 741 3.9e-8 SMART
ANK 745 774 8.9e-8 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 906 923 N/A INTRINSIC
ZU5 983 1087 1.1e-60 SMART
DEATH 1468 1562 3.7e-35 SMART
low complexity region 1799 1819 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183240
AA Change: T185S

PolyPhen 2 Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138474
Gene: ENSMUSG00000069601
AA Change: T185S

DomainStartEndE-ValueType
ANK 43 72 1.01e-5 SMART
ANK 76 105 1.66e-6 SMART
ANK 109 138 1.1e-6 SMART
ANK 142 170 6.51e0 SMART
ANK 171 200 2.6e1 SMART
ANK 204 233 1.31e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000183169
AA Change: T198S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 1.01e-5 SMART
ANK 89 118 1.66e-6 SMART
ANK 122 151 1.1e-6 SMART
ANK 155 183 6.51e0 SMART
ANK 184 213 2.6e1 SMART
ANK 217 246 1.31e-4 SMART
ANK 250 279 5.88e-7 SMART
ANK 283 312 3.23e-4 SMART
ANK 316 345 8.07e-5 SMART
ANK 349 378 1.53e-5 SMART
ANK 382 411 3.88e-7 SMART
ANK 415 444 1.99e-4 SMART
ANK 448 477 9.41e-6 SMART
ANK 481 510 1.14e-4 SMART
ANK 514 543 2.94e-7 SMART
ANK 547 576 3.33e-6 SMART
ANK 580 609 4.56e-4 SMART
ANK 613 642 8.19e-6 SMART
ANK 646 675 5.24e-4 SMART
ANK 679 708 6.46e-4 SMART
ANK 712 741 6.21e-6 SMART
ANK 745 774 1.43e-5 SMART
low complexity region 802 813 N/A INTRINSIC
ZU5 943 1047 2.27e-58 SMART
DEATH 1416 1510 7.66e-33 SMART
low complexity region 1551 1571 N/A INTRINSIC
low complexity region 1715 1724 N/A INTRINSIC
low complexity region 1726 1738 N/A INTRINSIC
low complexity region 1764 1776 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000182992
AA Change: T215S

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: T215S

DomainStartEndE-ValueType
coiled coil region 4 38 N/A INTRINSIC
ANK 73 102 1.01e-5 SMART
ANK 106 135 1.66e-6 SMART
ANK 139 168 1.1e-6 SMART
ANK 172 200 6.51e0 SMART
ANK 201 230 2.6e1 SMART
ANK 242 271 1.31e-4 SMART
ANK 275 304 5.88e-7 SMART
ANK 308 337 3.23e-4 SMART
ANK 341 370 8.07e-5 SMART
ANK 374 403 1.53e-5 SMART
ANK 407 436 3.88e-7 SMART
ANK 440 469 1.99e-4 SMART
ANK 473 502 9.41e-6 SMART
ANK 506 535 1.14e-4 SMART
ANK 539 568 2.94e-7 SMART
ANK 572 601 3.33e-6 SMART
ANK 605 634 4.56e-4 SMART
ANK 638 667 8.19e-6 SMART
ANK 671 700 5.24e-4 SMART
ANK 704 733 6.46e-4 SMART
ANK 737 766 6.21e-6 SMART
ANK 770 799 1.43e-5 SMART
low complexity region 827 838 N/A INTRINSIC
low complexity region 913 930 N/A INTRINSIC
ZU5 990 1094 2.27e-58 SMART
low complexity region 1515 1536 N/A INTRINSIC
low complexity region 1745 1762 N/A INTRINSIC
low complexity region 1805 1827 N/A INTRINSIC
low complexity region 1876 1897 N/A INTRINSIC
low complexity region 1969 1984 N/A INTRINSIC
DEATH 2325 2419 7.66e-33 SMART
low complexity region 2460 2480 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182993
AA Change: T189S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138601
Gene: ENSMUSG00000069601
AA Change: T189S

DomainStartEndE-ValueType
ANK 47 76 1.01e-5 SMART
ANK 80 109 1.66e-6 SMART
ANK 113 142 1.1e-6 SMART
ANK 146 174 6.51e0 SMART
ANK 175 204 2.6e1 SMART
ANK 208 237 1.31e-4 SMART
ANK 241 270 5.88e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000182557
AA Change: T198S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000138603
Gene: ENSMUSG00000069601
AA Change: T198S

DomainStartEndE-ValueType
ANK 56 85 1.01e-5 SMART
ANK 89 118 1.66e-6 SMART
ANK 122 151 1.1e-6 SMART
ANK 155 183 6.51e0 SMART
ANK 184 213 2.6e1 SMART
ANK 217 246 1.31e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182474
Predicted Effect probably damaging
Transcript: ENSMUST00000218680
AA Change: T209S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000182439
SMART Domains Protein: ENSMUSP00000138356
Gene: ENSMUSG00000069601

DomainStartEndE-ValueType
ZU5 56 160 2.27e-58 SMART
DEATH 541 635 5.8e-33 SMART
low complexity region 676 696 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the ankyrin protein family. Ankyrins link integral membrane proteins to the spectrin-based cytoskeleton. Ankyrin family members share a protein structure which includes three independently folded domains: the N-terminal ankyrin repeat domain, the central spectrin-binding domain, and the C-terminal rod domain. This ankyrin functions as the major ankyrin in the kidney and may play a role in the polarized distribution of many integral membrane proteins to specific subcellular sites. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a mutation that selectively ablates gene expression in brain exhibit progressive ataxia, tremors, and a substantially reduced cerebellum deficient in Purkinje cells. Mutants are poor breeders and die by 4-6 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A G 7: 119,945,322 (GRCm39) E466G probably damaging Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Acta1 A T 8: 124,619,900 (GRCm39) S147T probably benign Het
Adh1 G A 3: 137,994,558 (GRCm39) V293I probably benign Het
Aldh3b3 T C 19: 4,015,130 (GRCm39) Y170H probably damaging Het
Ankrd12 A T 17: 66,293,698 (GRCm39) N578K possibly damaging Het
Ano2 A T 6: 125,849,647 (GRCm39) E126D probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Col19a1 A T 1: 24,576,078 (GRCm39) I88K unknown Het
Col1a1 G A 11: 94,837,458 (GRCm39) probably null Het
Col5a1 A G 2: 27,850,456 (GRCm39) T518A unknown Het
Cul7 T C 17: 46,966,666 (GRCm39) L365P probably damaging Het
Dlec1 T C 9: 118,931,712 (GRCm39) S44P probably damaging Het
Dock9 T C 14: 121,862,565 (GRCm39) probably null Het
Fbxl9 T C 8: 106,039,707 (GRCm39) N556S probably damaging Het
Flrt2 C A 12: 95,745,904 (GRCm39) P81T probably damaging Het
Flrt2 C T 12: 95,745,905 (GRCm39) P81L probably damaging Het
Ginm1 A G 10: 7,650,980 (GRCm39) probably null Het
Glis3 T C 19: 28,508,985 (GRCm39) N333S probably damaging Het
Glo1 T G 17: 30,815,382 (GRCm39) E144D probably benign Het
Golga1 A T 2: 38,937,792 (GRCm39) probably null Het
H2-Aa A G 17: 34,502,207 (GRCm39) I155T possibly damaging Het
Haus5 A G 7: 30,356,670 (GRCm39) S479P probably damaging Het
Il10ra A T 9: 45,167,654 (GRCm39) V299D probably benign Het
Il17re T C 6: 113,446,665 (GRCm39) V472A probably damaging Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Il23r A C 6: 67,400,718 (GRCm39) D537E probably benign Het
Inppl1 T C 7: 101,472,584 (GRCm39) E1237G possibly damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Klhl35 T C 7: 99,119,427 (GRCm39) L304P probably damaging Het
Krt78 A T 15: 101,855,398 (GRCm39) C804* probably null Het
Med15 G T 16: 17,491,018 (GRCm39) probably benign Het
Mettl25 A G 10: 105,661,948 (GRCm39) S341P probably damaging Het
Mroh1 A G 15: 76,320,249 (GRCm39) T1008A probably benign Het
Mug1 A G 6: 121,858,780 (GRCm39) D1166G probably benign Het
Mug2 C A 6: 122,048,801 (GRCm39) H856N probably benign Het
Naca T A 10: 127,879,590 (GRCm39) probably benign Het
Nagk G T 6: 83,776,336 (GRCm39) V184F probably damaging Het
Nav1 T G 1: 135,400,148 (GRCm39) N474T probably benign Het
Ncor2 T A 5: 125,102,489 (GRCm39) H2089L probably benign Het
Nek6 A G 2: 38,472,458 (GRCm39) I261V probably damaging Het
Neurod2 G A 11: 98,218,558 (GRCm39) T202M probably damaging Het
Nlgn2 A G 11: 69,716,726 (GRCm39) V605A probably damaging Het
Nlrp5 A C 7: 23,123,335 (GRCm39) E732A possibly damaging Het
Nt5dc1 A T 10: 34,189,667 (GRCm39) V340D probably damaging Het
Ntn4 A G 10: 93,543,234 (GRCm39) D320G possibly damaging Het
Or10al3 T A 17: 38,012,312 (GRCm39) H250Q probably damaging Het
Or10x1 A T 1: 174,196,734 (GRCm39) I84L probably benign Het
Or52l1 A G 7: 104,830,079 (GRCm39) I162T possibly damaging Het
Or52z15 T C 7: 103,332,750 (GRCm39) I265T probably damaging Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pcdhb12 T A 18: 37,570,683 (GRCm39) W610R possibly damaging Het
Pias2 T A 18: 77,185,139 (GRCm39) C66* probably null Het
Plec T A 15: 76,059,751 (GRCm39) E3417D probably damaging Het
Plekhm3 CCTGCTGCTGCTGCTGCTGCTGCTGC CCTGCTGCTGCTGCTGCTGCTGC 1: 64,976,940 (GRCm39) probably benign Het
Ppp1r12a T A 10: 108,034,752 (GRCm39) I99N probably damaging Het
Prpf8 T G 11: 75,395,570 (GRCm39) V1899G probably damaging Het
Prr13 C A 15: 102,369,133 (GRCm39) probably benign Het
Ptchd4 A T 17: 42,814,507 (GRCm39) I803L probably benign Het
R3hdm2 T C 10: 127,334,337 (GRCm39) I947T possibly damaging Het
Raet1d A G 10: 22,247,350 (GRCm39) D142G probably damaging Het
Rbbp8nl C T 2: 179,925,106 (GRCm39) R33Q probably damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Rptn A T 3: 93,304,017 (GRCm39) H450L possibly damaging Het
Scn11a T A 9: 119,608,102 (GRCm39) K1010* probably null Het
Slc16a10 G A 10: 39,932,602 (GRCm39) Q33* probably null Het
Slc31a1 C T 4: 62,303,842 (GRCm39) probably benign Het
Slc34a1 A T 13: 55,548,963 (GRCm39) K138* probably null Het
Slc6a18 T A 13: 73,818,162 (GRCm39) E285V probably benign Het
Slco6c1 T A 1: 97,000,707 (GRCm39) T515S probably damaging Het
Snrnp40 T A 4: 130,279,768 (GRCm39) S295T probably damaging Het
Snx4 A T 16: 33,104,808 (GRCm39) Y252F possibly damaging Het
Spata18 T A 5: 73,828,482 (GRCm39) F348I probably damaging Het
Spef2 G T 15: 9,607,463 (GRCm39) R1319S probably damaging Het
Tas2r125 T C 6: 132,887,139 (GRCm39) F176L probably benign Het
Tcp10b A G 17: 13,300,513 (GRCm39) K399E possibly damaging Het
Tcstv3 A G 13: 120,779,260 (GRCm39) H53R probably damaging Het
Tnrc6c A G 11: 117,613,831 (GRCm39) K823R probably damaging Het
Trim31 A G 17: 37,212,692 (GRCm39) E221G probably benign Het
Trim47 T A 11: 115,998,605 (GRCm39) Q338L probably damaging Het
Tubgcp6 C A 15: 89,000,444 (GRCm39) R307L possibly damaging Het
Usp9y A G Y: 1,303,371 (GRCm39) probably null Het
Utp20 G T 10: 88,588,888 (GRCm39) T2427K probably benign Het
Vldlr T C 19: 27,218,709 (GRCm39) V147A probably damaging Het
Vmn1r115 C T 7: 20,578,198 (GRCm39) R238H probably benign Het
Vmn1r175 C A 7: 23,508,218 (GRCm39) R136S probably benign Het
Vmn1r53 A G 6: 90,201,268 (GRCm39) S19P possibly damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zfp362 G T 4: 128,684,069 (GRCm39) P13T probably damaging Het
Zfp825 A G 13: 74,629,064 (GRCm39) C151R probably damaging Het
Other mutations in Ank3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Ank3 APN 10 69,818,035 (GRCm39) splice site probably benign
IGL00578:Ank3 APN 10 69,838,224 (GRCm39) missense possibly damaging 0.95
IGL00851:Ank3 APN 10 69,710,663 (GRCm39) missense probably damaging 0.99
IGL01067:Ank3 APN 10 69,686,026 (GRCm39) missense probably damaging 1.00
IGL01483:Ank3 APN 10 69,710,639 (GRCm39) missense probably damaging 1.00
IGL01549:Ank3 APN 10 69,768,250 (GRCm39) missense probably damaging 1.00
IGL01576:Ank3 APN 10 69,816,121 (GRCm39) missense probably damaging 1.00
IGL01601:Ank3 APN 10 69,840,555 (GRCm39) missense possibly damaging 0.87
IGL02047:Ank3 APN 10 69,728,324 (GRCm39) missense possibly damaging 0.94
IGL02088:Ank3 APN 10 69,835,203 (GRCm39) missense probably damaging 1.00
IGL02159:Ank3 APN 10 69,644,722 (GRCm39) missense probably damaging 1.00
IGL02249:Ank3 APN 10 69,718,200 (GRCm39) missense probably damaging 1.00
IGL02942:Ank3 APN 10 69,809,707 (GRCm39) missense probably damaging 1.00
IGL02979:Ank3 APN 10 69,837,929 (GRCm39) missense probably benign 0.01
IGL03379:Ank3 APN 10 69,809,602 (GRCm39) missense probably damaging 1.00
PIT4495001:Ank3 UTSW 10 69,828,902 (GRCm39) missense
R0011:Ank3 UTSW 10 69,815,281 (GRCm39) splice site probably benign
R0011:Ank3 UTSW 10 69,815,281 (GRCm39) splice site probably benign
R0172:Ank3 UTSW 10 69,811,888 (GRCm39) missense probably damaging 1.00
R0315:Ank3 UTSW 10 69,838,347 (GRCm39) missense probably damaging 0.98
R0480:Ank3 UTSW 10 69,715,756 (GRCm39) missense probably damaging 0.96
R0485:Ank3 UTSW 10 69,718,374 (GRCm39) missense possibly damaging 0.89
R0511:Ank3 UTSW 10 69,718,198 (GRCm39) missense probably damaging 1.00
R1148:Ank3 UTSW 10 69,718,369 (GRCm39) missense probably damaging 1.00
R1148:Ank3 UTSW 10 69,718,369 (GRCm39) missense probably damaging 1.00
R1165:Ank3 UTSW 10 69,734,132 (GRCm39) missense possibly damaging 0.90
R1186:Ank3 UTSW 10 69,703,290 (GRCm39) missense probably damaging 1.00
R1257:Ank3 UTSW 10 69,710,665 (GRCm39) nonsense probably null
R1300:Ank3 UTSW 10 69,840,495 (GRCm39) missense probably benign 0.03
R1391:Ank3 UTSW 10 69,370,110 (GRCm39) missense possibly damaging 0.96
R1549:Ank3 UTSW 10 69,837,812 (GRCm39) missense probably benign 0.18
R1586:Ank3 UTSW 10 69,713,708 (GRCm39) missense probably damaging 0.98
R1619:Ank3 UTSW 10 69,715,805 (GRCm39) missense probably damaging 1.00
R1643:Ank3 UTSW 10 69,720,632 (GRCm39) missense probably benign 0.00
R1874:Ank3 UTSW 10 69,733,913 (GRCm39) missense probably damaging 1.00
R1884:Ank3 UTSW 10 69,851,422 (GRCm39) missense possibly damaging 0.53
R1986:Ank3 UTSW 10 69,703,258 (GRCm39) missense probably damaging 1.00
R2051:Ank3 UTSW 10 69,733,920 (GRCm39) missense probably damaging 0.97
R2273:Ank3 UTSW 10 69,786,772 (GRCm39) splice site probably null
R2274:Ank3 UTSW 10 69,786,772 (GRCm39) splice site probably null
R2421:Ank3 UTSW 10 69,818,034 (GRCm39) splice site probably benign
R2434:Ank3 UTSW 10 69,837,948 (GRCm39) missense probably damaging 1.00
R2969:Ank3 UTSW 10 69,830,225 (GRCm39) missense probably damaging 1.00
R3426:Ank3 UTSW 10 69,542,724 (GRCm39) missense probably benign
R3885:Ank3 UTSW 10 69,734,866 (GRCm39) missense probably damaging 1.00
R3936:Ank3 UTSW 10 69,715,819 (GRCm39) nonsense probably null
R4258:Ank3 UTSW 10 69,840,592 (GRCm39) missense probably benign 0.33
R4320:Ank3 UTSW 10 69,740,076 (GRCm39) missense possibly damaging 0.70
R4434:Ank3 UTSW 10 69,822,900 (GRCm39) missense probably damaging 0.99
R4435:Ank3 UTSW 10 69,822,900 (GRCm39) missense probably damaging 0.99
R4486:Ank3 UTSW 10 69,837,804 (GRCm39) missense possibly damaging 0.86
R4489:Ank3 UTSW 10 69,734,086 (GRCm39) missense probably damaging 1.00
R4492:Ank3 UTSW 10 69,644,755 (GRCm39) missense probably damaging 1.00
R4508:Ank3 UTSW 10 69,728,200 (GRCm39) missense probably damaging 1.00
R4561:Ank3 UTSW 10 69,837,848 (GRCm39) missense probably damaging 0.99
R4724:Ank3 UTSW 10 69,542,688 (GRCm39) missense probably benign
R4751:Ank3 UTSW 10 69,822,036 (GRCm39) missense probably benign 0.19
R4790:Ank3 UTSW 10 69,823,981 (GRCm39) nonsense probably null
R4795:Ank3 UTSW 10 69,694,095 (GRCm39) missense probably benign 0.36
R4921:Ank3 UTSW 10 69,837,939 (GRCm39) missense probably damaging 1.00
R4932:Ank3 UTSW 10 69,734,053 (GRCm39) splice site probably null
R4935:Ank3 UTSW 10 69,812,033 (GRCm39) missense probably damaging 0.99
R4946:Ank3 UTSW 10 69,733,947 (GRCm39) missense probably damaging 1.00
R5174:Ank3 UTSW 10 69,728,209 (GRCm39) missense probably damaging 0.99
R5208:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5248:Ank3 UTSW 10 69,822,938 (GRCm39) missense probably benign 0.00
R5255:Ank3 UTSW 10 69,721,030 (GRCm39) missense probably damaging 1.00
R5307:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5308:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5373:Ank3 UTSW 10 69,789,306 (GRCm39) splice site probably null
R5374:Ank3 UTSW 10 69,789,306 (GRCm39) splice site probably null
R5502:Ank3 UTSW 10 69,756,291 (GRCm39) missense probably benign 0.12
R5508:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5509:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5510:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5538:Ank3 UTSW 10 69,823,257 (GRCm39) missense probably damaging 1.00
R5664:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5665:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R5682:Ank3 UTSW 10 69,729,347 (GRCm39) missense probably damaging 1.00
R5834:Ank3 UTSW 10 69,658,087 (GRCm39) missense probably damaging 1.00
R5881:Ank3 UTSW 10 69,822,660 (GRCm39) missense probably benign 0.31
R5914:Ank3 UTSW 10 69,828,774 (GRCm39) intron probably benign
R5940:Ank3 UTSW 10 69,756,316 (GRCm39) missense probably benign 0.00
R5952:Ank3 UTSW 10 69,822,293 (GRCm39) missense probably benign 0.07
R5963:Ank3 UTSW 10 69,823,056 (GRCm39) nonsense probably null
R6075:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6076:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6077:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6081:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6092:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6118:Ank3 UTSW 10 69,830,231 (GRCm39) missense probably damaging 0.98
R6135:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6175:Ank3 UTSW 10 69,763,557 (GRCm39) missense probably damaging 1.00
R6248:Ank3 UTSW 10 69,809,680 (GRCm39) missense probably benign 0.10
R6249:Ank3 UTSW 10 69,658,906 (GRCm39) critical splice acceptor site probably null
R6273:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6274:Ank3 UTSW 10 69,838,395 (GRCm39) missense possibly damaging 0.91
R6290:Ank3 UTSW 10 69,827,198 (GRCm39) intron probably benign
R6298:Ank3 UTSW 10 69,686,006 (GRCm39) missense probably damaging 1.00
R6349:Ank3 UTSW 10 69,815,269 (GRCm39) missense probably damaging 1.00
R6366:Ank3 UTSW 10 69,835,188 (GRCm39) missense probably damaging 1.00
R6371:Ank3 UTSW 10 69,644,709 (GRCm39) missense probably damaging 1.00
R6459:Ank3 UTSW 10 69,827,577 (GRCm39) intron probably benign
R6489:Ank3 UTSW 10 69,827,459 (GRCm39) missense probably benign 0.00
R6491:Ank3 UTSW 10 69,827,459 (GRCm39) missense probably benign 0.00
R6499:Ank3 UTSW 10 69,827,574 (GRCm39) intron probably benign
R6520:Ank3 UTSW 10 69,824,217 (GRCm39) missense probably damaging 1.00
R6521:Ank3 UTSW 10 69,828,596 (GRCm39) intron probably benign
R6535:Ank3 UTSW 10 69,713,684 (GRCm39) missense probably damaging 1.00
R6548:Ank3 UTSW 10 69,728,240 (GRCm39) missense probably damaging 1.00
R6587:Ank3 UTSW 10 69,825,982 (GRCm39) intron probably benign
R6624:Ank3 UTSW 10 69,740,298 (GRCm39) missense possibly damaging 0.66
R6722:Ank3 UTSW 10 69,826,074 (GRCm39) intron probably benign
R6729:Ank3 UTSW 10 69,644,755 (GRCm39) missense probably damaging 1.00
R6731:Ank3 UTSW 10 69,849,858 (GRCm39) missense possibly damaging 0.70
R6742:Ank3 UTSW 10 69,827,412 (GRCm39) intron probably benign
R6788:Ank3 UTSW 10 69,840,553 (GRCm39) missense probably damaging 1.00
R6846:Ank3 UTSW 10 69,660,179 (GRCm39) missense probably damaging 1.00
R6933:Ank3 UTSW 10 69,740,042 (GRCm39) missense probably damaging 1.00
R7034:Ank3 UTSW 10 69,835,209 (GRCm39) missense probably damaging 1.00
R7036:Ank3 UTSW 10 69,835,209 (GRCm39) missense probably damaging 1.00
R7132:Ank3 UTSW 10 69,825,744 (GRCm39) missense
R7171:Ank3 UTSW 10 69,828,311 (GRCm39) missense
R7241:Ank3 UTSW 10 69,542,644 (GRCm39) start codon destroyed probably null 0.11
R7386:Ank3 UTSW 10 69,658,079 (GRCm39) missense unknown
R7445:Ank3 UTSW 10 69,827,954 (GRCm39) missense
R7452:Ank3 UTSW 10 69,734,881 (GRCm39) missense possibly damaging 0.53
R7492:Ank3 UTSW 10 69,718,357 (GRCm39) missense unknown
R7494:Ank3 UTSW 10 69,824,756 (GRCm39) missense
R7512:Ank3 UTSW 10 69,826,691 (GRCm39) missense
R7543:Ank3 UTSW 10 69,786,846 (GRCm39) missense possibly damaging 0.96
R7577:Ank3 UTSW 10 69,828,402 (GRCm39) missense
R7610:Ank3 UTSW 10 69,822,252 (GRCm39) missense
R7673:Ank3 UTSW 10 69,826,331 (GRCm39) missense
R7682:Ank3 UTSW 10 69,824,065 (GRCm39) missense possibly damaging 0.53
R7814:Ank3 UTSW 10 69,822,734 (GRCm39) missense
R7835:Ank3 UTSW 10 69,823,557 (GRCm39) missense
R7843:Ank3 UTSW 10 69,822,788 (GRCm39) missense probably benign 0.01
R7891:Ank3 UTSW 10 69,824,139 (GRCm39) missense probably damaging 1.00
R8109:Ank3 UTSW 10 69,826,148 (GRCm39) missense
R8175:Ank3 UTSW 10 69,729,339 (GRCm39) missense unknown
R8210:Ank3 UTSW 10 69,811,925 (GRCm39) missense possibly damaging 0.72
R8211:Ank3 UTSW 10 69,703,228 (GRCm39) missense unknown
R8299:Ank3 UTSW 10 69,811,981 (GRCm39) missense probably damaging 0.98
R8302:Ank3 UTSW 10 69,840,810 (GRCm39) missense possibly damaging 0.73
R8516:Ank3 UTSW 10 69,763,559 (GRCm39) nonsense probably null
R8543:Ank3 UTSW 10 69,838,266 (GRCm39) missense probably damaging 1.00
R8549:Ank3 UTSW 10 69,818,012 (GRCm39) missense possibly damaging 0.74
R8726:Ank3 UTSW 10 69,823,084 (GRCm39) missense
R8729:Ank3 UTSW 10 69,838,428 (GRCm39) missense possibly damaging 0.85
R8735:Ank3 UTSW 10 69,822,785 (GRCm39) missense probably benign 0.24
R8751:Ank3 UTSW 10 69,761,849 (GRCm39) intron probably benign
R8788:Ank3 UTSW 10 69,718,256 (GRCm39) missense unknown
R8875:Ank3 UTSW 10 69,660,233 (GRCm39) missense unknown
R8919:Ank3 UTSW 10 69,840,671 (GRCm39) missense possibly damaging 0.72
R8932:Ank3 UTSW 10 69,660,292 (GRCm39) missense probably benign 0.00
R9053:Ank3 UTSW 10 69,822,389 (GRCm39) missense
R9064:Ank3 UTSW 10 69,822,185 (GRCm39) missense
R9084:Ank3 UTSW 10 69,786,879 (GRCm39) missense probably benign 0.12
R9160:Ank3 UTSW 10 69,838,304 (GRCm39) missense unknown
R9275:Ank3 UTSW 10 69,822,662 (GRCm39) missense probably damaging 1.00
R9280:Ank3 UTSW 10 69,818,021 (GRCm39) missense possibly damaging 0.83
R9300:Ank3 UTSW 10 69,706,872 (GRCm39) missense unknown
R9302:Ank3 UTSW 10 69,761,849 (GRCm39) intron probably benign
R9327:Ank3 UTSW 10 69,812,086 (GRCm39) critical splice donor site probably null
R9336:Ank3 UTSW 10 69,809,578 (GRCm39) missense probably benign 0.00
R9345:Ank3 UTSW 10 69,761,899 (GRCm39) intron probably benign
R9368:Ank3 UTSW 10 69,823,329 (GRCm39) missense
R9406:Ank3 UTSW 10 69,645,011 (GRCm39) missense unknown
R9491:Ank3 UTSW 10 69,838,339 (GRCm39) critical splice acceptor site probably null
R9573:Ank3 UTSW 10 69,791,977 (GRCm39) nonsense probably null
R9674:Ank3 UTSW 10 69,824,549 (GRCm39) missense
R9710:Ank3 UTSW 10 69,829,070 (GRCm39) missense
R9720:Ank3 UTSW 10 69,825,335 (GRCm39) missense
R9767:Ank3 UTSW 10 69,823,799 (GRCm39) missense probably damaging 1.00
R9800:Ank3 UTSW 10 69,733,957 (GRCm39) missense unknown
Z1176:Ank3 UTSW 10 69,827,045 (GRCm39) missense
Z1176:Ank3 UTSW 10 69,786,840 (GRCm39) missense possibly damaging 0.85
Z1176:Ank3 UTSW 10 69,768,304 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGGCCATCCCTGATTTGATAAC -3'
(R):5'- ACGGCAAACATGTTCTCATCC -3'

Sequencing Primer
(F):5'- GCCATCCCTGATTTGATAACAGAATC -3'
(R):5'- GGCAAACATGTTCTCATCCCTTTCAG -3'
Posted On 2014-06-30