Incidental Mutation 'R0511:Ank3'
ID 46930
Institutional Source Beutler Lab
Gene Symbol Ank3
Ensembl Gene ENSMUSG00000069601
Gene Name ankyrin 3, epithelial
Synonyms Ankyrin-3, Ankyrin-G, AnkG, Ank-3, 2900054D09Rik
MMRRC Submission 038705-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.883) question?
Stock # R0511 (G1)
Quality Score 216
Status Validated
Chromosome 10
Chromosomal Location 69398773-70027438 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69882368 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 483 (Q483L)
Ref Sequence ENSEMBL: ENSMUSP00000138348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047061] [ENSMUST00000054167] [ENSMUST00000092431] [ENSMUST00000092432] [ENSMUST00000092434] [ENSMUST00000182155] [ENSMUST00000182439] [ENSMUST00000182884] [ENSMUST00000182992] [ENSMUST00000183148] [ENSMUST00000183169] [ENSMUST00000218680]
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: Q483L
SMART Domains Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q483L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q483L

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q483L
SMART Domains Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: Q483L

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: Q483L
SMART Domains Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: Q483L

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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182474
Predicted Effect unknown
Transcript: ENSMUST00000182884
AA Change: Q483L
SMART Domains Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: Q483L

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 damaging
Transcript: ENSMUST00000182992
AA Change: Q508L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: Q508L

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 damaging
Transcript: ENSMUST00000183148
AA Change: Q483L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: Q483L

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 probably damaging
Transcript: ENSMUST00000183169
AA Change: Q483L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: Q483L

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: ENSMUST00000218680
AA Change: Q494L

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
Meta Mutation Damage Score 0.2496 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (116/116)
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: 118 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T C 18: 38,254,071 (GRCm38) probably null Het
A630095E13Rik A T 9: 36,638,577 (GRCm38) probably null Het
Abca13 G T 11: 9,294,559 (GRCm38) V2141L probably benign Het
Adam17 T C 12: 21,340,458 (GRCm38) probably benign Het
Adam3 A T 8: 24,695,315 (GRCm38) C456S probably damaging Het
AI464131 A G 4: 41,498,538 (GRCm38) F364S probably damaging Het
Aldh4a1 G T 4: 139,642,571 (GRCm38) probably benign Het
Anapc4 A G 5: 52,842,017 (GRCm38) probably benign Het
Ankle2 A G 5: 110,242,059 (GRCm38) probably benign Het
Ankrd13b T A 11: 77,473,288 (GRCm38) T150S possibly damaging Het
Apeh A G 9: 108,087,055 (GRCm38) M524T probably benign Het
Arl14epl T A 18: 46,926,417 (GRCm38) probably null Het
Atg2a T C 19: 6,252,539 (GRCm38) F964S possibly damaging Het
Atg2b C T 12: 105,617,153 (GRCm38) V2050M probably damaging Het
Atp2b4 A T 1: 133,732,218 (GRCm38) probably benign Het
Bbof1 T A 12: 84,430,271 (GRCm38) S512T probably benign Het
BC055324 T C 1: 163,971,843 (GRCm38) probably null Het
C130079G13Rik A G 3: 59,936,350 (GRCm38) H155R possibly damaging Het
Camta1 C A 4: 151,075,140 (GRCm38) R1614L probably damaging Het
Car10 T C 11: 93,490,582 (GRCm38) Y100H probably damaging Het
Ccdc81 T A 7: 89,893,296 (GRCm38) E124V probably damaging Het
Cd84 A G 1: 171,872,927 (GRCm38) T204A probably benign Het
Celf2 A G 2: 6,604,176 (GRCm38) S178P probably damaging Het
Chat G A 14: 32,409,019 (GRCm38) T555M probably damaging Het
Chd6 A G 2: 160,992,191 (GRCm38) F917S probably damaging Het
Chrna2 C A 14: 66,149,104 (GRCm38) T233N probably damaging Het
Cnpy2 T C 10: 128,326,185 (GRCm38) V109A probably benign Het
Col4a1 T C 8: 11,208,333 (GRCm38) probably null Het
Csmd1 C T 8: 15,932,529 (GRCm38) V2713M possibly damaging Het
Cuedc1 G A 11: 88,183,405 (GRCm38) R255Q probably damaging Het
Cxcl15 A T 5: 90,798,038 (GRCm38) probably benign Het
Dach1 A T 14: 97,901,329 (GRCm38) H559Q possibly damaging Het
Dennd4c C T 4: 86,826,022 (GRCm38) T1367M probably damaging Het
Depdc5 T A 5: 32,945,028 (GRCm38) Y365* probably null Het
Dicer1 T C 12: 104,702,841 (GRCm38) Y1194C possibly damaging Het
Dmxl1 C G 18: 49,891,467 (GRCm38) S1736* probably null Het
Dnah7a C T 1: 53,497,126 (GRCm38) R2586K probably benign Het
Dnajb8 T C 6: 88,222,485 (GRCm38) M1T probably null Het
Dync2h1 G A 9: 7,122,692 (GRCm38) P2088L probably benign Het
Eftud2 T G 11: 102,844,222 (GRCm38) H617P probably damaging Het
Ephb1 A G 9: 101,995,980 (GRCm38) probably benign Het
Fam184a G T 10: 53,698,879 (GRCm38) H155Q probably benign Het
Ganc G T 2: 120,448,401 (GRCm38) E700* probably null Het
Gm10912 A G 2: 104,066,945 (GRCm38) probably benign Het
Gm9047 G T 6: 29,478,170 (GRCm38) probably benign Het
Haus5 A T 7: 30,659,067 (GRCm38) I294N probably damaging Het
Hmgcr G T 13: 96,660,143 (GRCm38) probably null Het
Hr T A 14: 70,561,912 (GRCm38) C641* probably null Het
Itga10 A G 3: 96,658,174 (GRCm38) N1038S probably damaging Het
Itgb1bp1 T G 12: 21,271,435 (GRCm38) Y172S probably damaging Het
Kprp T C 3: 92,824,723 (GRCm38) N340S probably damaging Het
Kremen1 A G 11: 5,215,447 (GRCm38) I41T probably damaging Het
Krt6b A G 15: 101,677,607 (GRCm38) probably benign Het
Krt81 C A 15: 101,463,627 (GRCm38) R24L possibly damaging Het
Ldhd A G 8: 111,629,677 (GRCm38) Y86H probably benign Het
Lilra6 A T 7: 3,912,785 (GRCm38) I76N possibly damaging Het
Mak T C 13: 41,046,267 (GRCm38) T299A probably benign Het
Med25 A G 7: 44,885,078 (GRCm38) probably null Het
Mpg A T 11: 32,230,039 (GRCm38) N189I probably damaging Het
Mroh8 A G 2: 157,229,918 (GRCm38) Y556H probably damaging Het
Myh8 T A 11: 67,284,507 (GRCm38) S294T probably benign Het
Myom1 T A 17: 71,084,317 (GRCm38) D842E probably benign Het
Nat2 C T 8: 67,501,330 (GRCm38) Q31* probably null Het
Nf1 T A 11: 79,438,769 (GRCm38) M653K probably benign Het
Nhs C A X: 161,837,359 (GRCm38) R1467I probably damaging Het
Npr2 A G 4: 43,632,801 (GRCm38) E206G probably benign Het
Nsd3 G A 8: 25,678,716 (GRCm38) G629D possibly damaging Het
Nwd1 G A 8: 72,682,005 (GRCm38) C831Y probably damaging Het
Olfr1094 A G 2: 86,829,606 (GRCm38) I285V probably benign Het
Olfr584 T C 7: 103,085,851 (GRCm38) I111T probably damaging Het
P2ry14 A G 3: 59,116,028 (GRCm38) S4P possibly damaging Het
Parp4 A G 14: 56,635,715 (GRCm38) probably benign Het
Pclo A G 5: 14,678,285 (GRCm38) probably benign Het
Pclo T C 5: 14,679,398 (GRCm38) probably benign Het
Pcnt A T 10: 76,404,595 (GRCm38) S1202T possibly damaging Het
Pfkfb4 A G 9: 109,027,757 (GRCm38) Y412C probably damaging Het
Pgm1 T A 5: 64,110,555 (GRCm38) V449D probably damaging Het
Poldip3 T A 15: 83,138,235 (GRCm38) D116V probably damaging Het
Pom121 G T 5: 135,381,832 (GRCm38) Q824K unknown Het
Prkdc G T 16: 15,831,282 (GRCm38) G3707* probably null Het
Prr14l T C 5: 32,844,216 (GRCm38) probably benign Het
Ptbp2 T G 3: 119,720,964 (GRCm38) I405L probably benign Het
Rad21l A T 2: 151,649,069 (GRCm38) probably benign Het
Rbm6 G A 9: 107,847,289 (GRCm38) Q488* probably null Het
Rdh1 T A 10: 127,764,783 (GRCm38) M225K probably benign Het
Recql5 T C 11: 115,928,383 (GRCm38) D119G probably benign Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
Robo1 T C 16: 73,013,125 (GRCm38) probably null Het
Samd12 G A 15: 53,860,171 (GRCm38) T42I probably benign Het
Scn10a A T 9: 119,613,700 (GRCm38) M1494K probably damaging Het
Sec31a G A 5: 100,375,240 (GRCm38) P864L probably benign Het
Senp2 T C 16: 22,036,570 (GRCm38) V344A probably benign Het
Serpina5 G A 12: 104,103,362 (GRCm38) D278N probably benign Het
Sh3tc1 A T 5: 35,703,462 (GRCm38) V1017D probably damaging Het
Sin3a T A 9: 57,096,895 (GRCm38) Y310* probably null Het
Slc25a32 T C 15: 39,097,545 (GRCm38) T248A probably benign Het
Slc35e1 T C 8: 72,492,571 (GRCm38) probably benign Het
Slc4a10 G A 2: 62,286,862 (GRCm38) V722M probably damaging Het
Slco1a4 A G 6: 141,830,860 (GRCm38) probably benign Het
Smg6 T A 11: 74,929,058 (GRCm38) Y52N probably damaging Het
Sncb T G 13: 54,765,587 (GRCm38) T33P probably damaging Het
Spef2 A G 15: 9,583,984 (GRCm38) probably null Het
Sugp1 A G 8: 70,059,363 (GRCm38) E203G probably damaging Het
Suv39h2 A T 2: 3,472,579 (GRCm38) C105S probably damaging Het
Tlr1 A T 5: 64,926,620 (GRCm38) F205I probably damaging Het
Tnip1 A T 11: 54,917,873 (GRCm38) M496K probably damaging Het
Tnxb G A 17: 34,718,245 (GRCm38) E2889K probably damaging Het
Trim30b T A 7: 104,365,803 (GRCm38) H126L possibly damaging Het
Trpm7 A T 2: 126,826,718 (GRCm38) Y759* probably null Het
Ttc17 A G 2: 94,323,120 (GRCm38) I1000T possibly damaging Het
Ttc27 A T 17: 74,718,715 (GRCm38) N61I probably benign Het
Uba6 T C 5: 86,112,750 (GRCm38) Y990C probably damaging Het
Vav3 A G 3: 109,664,440 (GRCm38) probably benign Het
Vmn2r55 C T 7: 12,671,018 (GRCm38) A153T possibly damaging Het
Wars2 A G 3: 99,216,549 (GRCm38) D242G probably damaging Het
Xylt2 G A 11: 94,669,936 (GRCm38) Q259* probably null Het
Zfp27 G A 7: 29,894,522 (GRCm38) P673S probably damaging Het
Zgrf1 T C 3: 127,584,660 (GRCm38) I1023T possibly damaging Het
Other mutations in Ank3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Ank3 APN 10 69,982,205 (GRCm38) splice site probably benign
IGL00578:Ank3 APN 10 70,002,394 (GRCm38) missense possibly damaging 0.95
IGL00851:Ank3 APN 10 69,874,833 (GRCm38) missense probably damaging 0.99
IGL01067:Ank3 APN 10 69,850,196 (GRCm38) missense probably damaging 1.00
IGL01483:Ank3 APN 10 69,874,809 (GRCm38) missense probably damaging 1.00
IGL01549:Ank3 APN 10 69,932,420 (GRCm38) missense probably damaging 1.00
IGL01576:Ank3 APN 10 69,980,291 (GRCm38) missense probably damaging 1.00
IGL01601:Ank3 APN 10 70,004,725 (GRCm38) missense possibly damaging 0.87
IGL02047:Ank3 APN 10 69,892,494 (GRCm38) missense possibly damaging 0.94
IGL02088:Ank3 APN 10 69,999,373 (GRCm38) missense probably damaging 1.00
IGL02159:Ank3 APN 10 69,808,892 (GRCm38) missense probably damaging 1.00
IGL02249:Ank3 APN 10 69,882,370 (GRCm38) missense probably damaging 1.00
IGL02942:Ank3 APN 10 69,973,877 (GRCm38) missense probably damaging 1.00
IGL02979:Ank3 APN 10 70,002,099 (GRCm38) missense probably benign 0.01
IGL03379:Ank3 APN 10 69,973,772 (GRCm38) missense probably damaging 1.00
PIT4495001:Ank3 UTSW 10 69,993,072 (GRCm38) missense
R0011:Ank3 UTSW 10 69,979,451 (GRCm38) splice site probably benign
R0011:Ank3 UTSW 10 69,979,451 (GRCm38) splice site probably benign
R0172:Ank3 UTSW 10 69,976,058 (GRCm38) missense probably damaging 1.00
R0315:Ank3 UTSW 10 70,002,517 (GRCm38) missense probably damaging 0.98
R0480:Ank3 UTSW 10 69,879,926 (GRCm38) missense probably damaging 0.96
R0485:Ank3 UTSW 10 69,882,544 (GRCm38) missense possibly damaging 0.89
R1148:Ank3 UTSW 10 69,882,539 (GRCm38) missense probably damaging 1.00
R1148:Ank3 UTSW 10 69,882,539 (GRCm38) missense probably damaging 1.00
R1165:Ank3 UTSW 10 69,898,302 (GRCm38) missense possibly damaging 0.90
R1186:Ank3 UTSW 10 69,867,460 (GRCm38) missense probably damaging 1.00
R1257:Ank3 UTSW 10 69,874,835 (GRCm38) nonsense probably null
R1300:Ank3 UTSW 10 70,004,665 (GRCm38) missense probably benign 0.03
R1391:Ank3 UTSW 10 69,534,280 (GRCm38) missense possibly damaging 0.96
R1549:Ank3 UTSW 10 70,001,982 (GRCm38) missense probably benign 0.18
R1586:Ank3 UTSW 10 69,877,878 (GRCm38) missense probably damaging 0.98
R1619:Ank3 UTSW 10 69,879,975 (GRCm38) missense probably damaging 1.00
R1643:Ank3 UTSW 10 69,884,802 (GRCm38) missense probably benign 0.00
R1874:Ank3 UTSW 10 69,898,083 (GRCm38) missense probably damaging 1.00
R1884:Ank3 UTSW 10 70,015,592 (GRCm38) missense possibly damaging 0.53
R1901:Ank3 UTSW 10 69,822,337 (GRCm38) missense probably damaging 1.00
R1986:Ank3 UTSW 10 69,867,428 (GRCm38) missense probably damaging 1.00
R2051:Ank3 UTSW 10 69,898,090 (GRCm38) missense probably damaging 0.97
R2273:Ank3 UTSW 10 69,950,942 (GRCm38) splice site probably null
R2274:Ank3 UTSW 10 69,950,942 (GRCm38) splice site probably null
R2421:Ank3 UTSW 10 69,982,204 (GRCm38) splice site probably benign
R2434:Ank3 UTSW 10 70,002,118 (GRCm38) missense probably damaging 1.00
R2969:Ank3 UTSW 10 69,994,395 (GRCm38) missense probably damaging 1.00
R3426:Ank3 UTSW 10 69,706,894 (GRCm38) missense probably benign
R3885:Ank3 UTSW 10 69,899,036 (GRCm38) missense probably damaging 1.00
R3936:Ank3 UTSW 10 69,879,989 (GRCm38) nonsense probably null
R4258:Ank3 UTSW 10 70,004,762 (GRCm38) missense probably benign 0.33
R4320:Ank3 UTSW 10 69,904,246 (GRCm38) missense possibly damaging 0.70
R4434:Ank3 UTSW 10 69,987,070 (GRCm38) missense probably damaging 0.99
R4435:Ank3 UTSW 10 69,987,070 (GRCm38) missense probably damaging 0.99
R4486:Ank3 UTSW 10 70,001,974 (GRCm38) missense possibly damaging 0.86
R4489:Ank3 UTSW 10 69,898,256 (GRCm38) missense probably damaging 1.00
R4492:Ank3 UTSW 10 69,808,925 (GRCm38) missense probably damaging 1.00
R4508:Ank3 UTSW 10 69,892,370 (GRCm38) missense probably damaging 1.00
R4561:Ank3 UTSW 10 70,002,018 (GRCm38) missense probably damaging 0.99
R4724:Ank3 UTSW 10 69,706,858 (GRCm38) missense probably benign
R4751:Ank3 UTSW 10 69,986,206 (GRCm38) missense probably benign 0.19
R4790:Ank3 UTSW 10 69,988,151 (GRCm38) nonsense probably null
R4795:Ank3 UTSW 10 69,858,265 (GRCm38) missense probably benign 0.36
R4921:Ank3 UTSW 10 70,002,109 (GRCm38) missense probably damaging 1.00
R4932:Ank3 UTSW 10 69,898,223 (GRCm38) splice site probably null
R4935:Ank3 UTSW 10 69,976,203 (GRCm38) missense probably damaging 0.99
R4946:Ank3 UTSW 10 69,898,117 (GRCm38) missense probably damaging 1.00
R5174:Ank3 UTSW 10 69,892,379 (GRCm38) missense probably damaging 0.99
R5208:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5248:Ank3 UTSW 10 69,987,108 (GRCm38) missense probably benign 0.00
R5255:Ank3 UTSW 10 69,885,200 (GRCm38) missense probably damaging 1.00
R5307:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5308:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5373:Ank3 UTSW 10 69,953,476 (GRCm38) splice site probably null
R5374:Ank3 UTSW 10 69,953,476 (GRCm38) splice site probably null
R5502:Ank3 UTSW 10 69,920,461 (GRCm38) missense probably benign 0.12
R5508:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5509:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5510:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5538:Ank3 UTSW 10 69,987,427 (GRCm38) missense probably damaging 1.00
R5664:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5665:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R5682:Ank3 UTSW 10 69,893,517 (GRCm38) missense probably damaging 1.00
R5834:Ank3 UTSW 10 69,822,257 (GRCm38) missense probably damaging 1.00
R5881:Ank3 UTSW 10 69,986,830 (GRCm38) missense probably benign 0.31
R5914:Ank3 UTSW 10 69,992,944 (GRCm38) intron probably benign
R5940:Ank3 UTSW 10 69,920,486 (GRCm38) missense probably benign 0.00
R5952:Ank3 UTSW 10 69,986,463 (GRCm38) missense probably benign 0.07
R5963:Ank3 UTSW 10 69,987,226 (GRCm38) nonsense probably null
R6075:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6076:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6077:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6081:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6092:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6118:Ank3 UTSW 10 69,994,401 (GRCm38) missense probably damaging 0.98
R6135:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6175:Ank3 UTSW 10 69,927,727 (GRCm38) missense probably damaging 1.00
R6248:Ank3 UTSW 10 69,973,850 (GRCm38) missense probably benign 0.10
R6249:Ank3 UTSW 10 69,823,076 (GRCm38) critical splice acceptor site probably null
R6273:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6274:Ank3 UTSW 10 70,002,565 (GRCm38) missense possibly damaging 0.91
R6290:Ank3 UTSW 10 69,991,368 (GRCm38) intron probably benign
R6298:Ank3 UTSW 10 69,850,176 (GRCm38) missense probably damaging 1.00
R6349:Ank3 UTSW 10 69,979,439 (GRCm38) missense probably damaging 1.00
R6366:Ank3 UTSW 10 69,999,358 (GRCm38) missense probably damaging 1.00
R6371:Ank3 UTSW 10 69,808,879 (GRCm38) missense probably damaging 1.00
R6459:Ank3 UTSW 10 69,991,747 (GRCm38) intron probably benign
R6489:Ank3 UTSW 10 69,991,629 (GRCm38) missense probably benign 0.00
R6491:Ank3 UTSW 10 69,991,629 (GRCm38) missense probably benign 0.00
R6499:Ank3 UTSW 10 69,991,744 (GRCm38) intron probably benign
R6520:Ank3 UTSW 10 69,988,387 (GRCm38) missense probably damaging 1.00
R6521:Ank3 UTSW 10 69,992,766 (GRCm38) intron probably benign
R6535:Ank3 UTSW 10 69,877,854 (GRCm38) missense probably damaging 1.00
R6548:Ank3 UTSW 10 69,892,410 (GRCm38) missense probably damaging 1.00
R6587:Ank3 UTSW 10 69,990,152 (GRCm38) intron probably benign
R6624:Ank3 UTSW 10 69,904,468 (GRCm38) missense possibly damaging 0.66
R6722:Ank3 UTSW 10 69,990,244 (GRCm38) intron probably benign
R6729:Ank3 UTSW 10 69,808,925 (GRCm38) missense probably damaging 1.00
R6731:Ank3 UTSW 10 70,014,028 (GRCm38) missense possibly damaging 0.70
R6742:Ank3 UTSW 10 69,991,582 (GRCm38) intron probably benign
R6788:Ank3 UTSW 10 70,004,723 (GRCm38) missense probably damaging 1.00
R6846:Ank3 UTSW 10 69,824,349 (GRCm38) missense probably damaging 1.00
R6933:Ank3 UTSW 10 69,904,212 (GRCm38) missense probably damaging 1.00
R7034:Ank3 UTSW 10 69,999,379 (GRCm38) missense probably damaging 1.00
R7036:Ank3 UTSW 10 69,999,379 (GRCm38) missense probably damaging 1.00
R7132:Ank3 UTSW 10 69,989,914 (GRCm38) missense
R7171:Ank3 UTSW 10 69,992,481 (GRCm38) missense
R7241:Ank3 UTSW 10 69,706,814 (GRCm38) start codon destroyed probably null 0.11
R7386:Ank3 UTSW 10 69,822,249 (GRCm38) missense unknown
R7445:Ank3 UTSW 10 69,992,124 (GRCm38) missense
R7452:Ank3 UTSW 10 69,899,051 (GRCm38) missense possibly damaging 0.53
R7492:Ank3 UTSW 10 69,882,527 (GRCm38) missense unknown
R7494:Ank3 UTSW 10 69,988,926 (GRCm38) missense
R7512:Ank3 UTSW 10 69,990,861 (GRCm38) missense
R7543:Ank3 UTSW 10 69,951,016 (GRCm38) missense possibly damaging 0.96
R7577:Ank3 UTSW 10 69,992,572 (GRCm38) missense
R7610:Ank3 UTSW 10 69,986,422 (GRCm38) missense
R7673:Ank3 UTSW 10 69,990,501 (GRCm38) missense
R7682:Ank3 UTSW 10 69,988,235 (GRCm38) missense possibly damaging 0.53
R7814:Ank3 UTSW 10 69,986,904 (GRCm38) missense
R7835:Ank3 UTSW 10 69,987,727 (GRCm38) missense
R7843:Ank3 UTSW 10 69,986,958 (GRCm38) missense probably benign 0.01
R7891:Ank3 UTSW 10 69,988,309 (GRCm38) missense probably damaging 1.00
R8109:Ank3 UTSW 10 69,990,318 (GRCm38) missense
R8175:Ank3 UTSW 10 69,893,509 (GRCm38) missense unknown
R8210:Ank3 UTSW 10 69,976,095 (GRCm38) missense possibly damaging 0.72
R8211:Ank3 UTSW 10 69,867,398 (GRCm38) missense unknown
R8299:Ank3 UTSW 10 69,976,151 (GRCm38) missense probably damaging 0.98
R8302:Ank3 UTSW 10 70,004,980 (GRCm38) missense possibly damaging 0.73
R8516:Ank3 UTSW 10 69,927,729 (GRCm38) nonsense probably null
R8543:Ank3 UTSW 10 70,002,436 (GRCm38) missense probably damaging 1.00
R8549:Ank3 UTSW 10 69,982,182 (GRCm38) missense possibly damaging 0.74
R8726:Ank3 UTSW 10 69,987,254 (GRCm38) missense
R8729:Ank3 UTSW 10 70,002,598 (GRCm38) missense possibly damaging 0.85
R8735:Ank3 UTSW 10 69,986,955 (GRCm38) missense probably benign 0.24
R8751:Ank3 UTSW 10 69,926,019 (GRCm38) intron probably benign
R8788:Ank3 UTSW 10 69,882,426 (GRCm38) missense unknown
R8875:Ank3 UTSW 10 69,824,403 (GRCm38) missense unknown
R8919:Ank3 UTSW 10 70,004,841 (GRCm38) missense possibly damaging 0.72
R8932:Ank3 UTSW 10 69,824,462 (GRCm38) missense probably benign 0.00
R9053:Ank3 UTSW 10 69,986,559 (GRCm38) missense
R9064:Ank3 UTSW 10 69,986,355 (GRCm38) missense
R9084:Ank3 UTSW 10 69,951,049 (GRCm38) missense probably benign 0.12
R9160:Ank3 UTSW 10 70,002,474 (GRCm38) missense unknown
R9275:Ank3 UTSW 10 69,986,832 (GRCm38) missense probably damaging 1.00
R9280:Ank3 UTSW 10 69,982,191 (GRCm38) missense possibly damaging 0.83
R9300:Ank3 UTSW 10 69,871,042 (GRCm38) missense unknown
R9302:Ank3 UTSW 10 69,926,019 (GRCm38) intron probably benign
R9327:Ank3 UTSW 10 69,976,256 (GRCm38) critical splice donor site probably null
R9336:Ank3 UTSW 10 69,973,748 (GRCm38) missense probably benign 0.00
R9345:Ank3 UTSW 10 69,926,069 (GRCm38) intron probably benign
R9368:Ank3 UTSW 10 69,987,499 (GRCm38) missense
R9406:Ank3 UTSW 10 69,809,181 (GRCm38) missense unknown
R9491:Ank3 UTSW 10 70,002,509 (GRCm38) critical splice acceptor site probably null
R9573:Ank3 UTSW 10 69,956,147 (GRCm38) nonsense probably null
R9674:Ank3 UTSW 10 69,988,719 (GRCm38) missense
R9710:Ank3 UTSW 10 69,993,240 (GRCm38) missense
R9720:Ank3 UTSW 10 69,989,505 (GRCm38) missense
R9767:Ank3 UTSW 10 69,987,969 (GRCm38) missense probably damaging 1.00
R9800:Ank3 UTSW 10 69,898,127 (GRCm38) missense unknown
Z1176:Ank3 UTSW 10 69,991,215 (GRCm38) missense
Z1176:Ank3 UTSW 10 69,951,010 (GRCm38) missense possibly damaging 0.85
Z1176:Ank3 UTSW 10 69,932,474 (GRCm38) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCAGGATGCACAGCTTGACAAATTC -3'
(R):5'- ATGATCCAGGAGGAACGCAGCTAC -3'

Sequencing Primer
(F):5'- TTCAGAAGGCATGACCTCTGC -3'
(R):5'- GCAGCTACATCCTCATGCC -3'
Posted On 2013-06-11