Incidental Mutation 'R4946:Ank3'
ID 383427
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 042543-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R4946 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 69234608-69863266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69733947 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 737 (A737V)
Ref Sequence ENSEMBL: ENSMUSP00000138770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047061] [ENSMUST00000054167] [ENSMUST00000092431] [ENSMUST00000092432] [ENSMUST00000092434] [ENSMUST00000182155] [ENSMUST00000183169] [ENSMUST00000182884] [ENSMUST00000183148] [ENSMUST00000182992] [ENSMUST00000218680] [ENSMUST00000182439] [ENSMUST00000182683] [ENSMUST00000182972]
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: A737V
SMART Domains Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601
AA Change: A737V

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: A737V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601
AA Change: A737V

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 probably damaging
Transcript: ENSMUST00000092432
AA Change: A737V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601
AA Change: A737V

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: A737V
SMART Domains Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601
AA Change: A737V

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: A737V
SMART Domains Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601
AA Change: A737V

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: ENSMUST00000182474
Predicted Effect probably damaging
Transcript: ENSMUST00000183169
AA Change: A737V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601
AA Change: A737V

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 unknown
Transcript: ENSMUST00000182884
AA Change: A737V
SMART Domains Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601
AA Change: A737V

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: ENSMUST00000183148
AA Change: A737V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601
AA Change: A737V

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: ENSMUST00000182992
AA Change: A762V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601
AA Change: A762V

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: ENSMUST00000218680
AA Change: A748V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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 probably benign
Transcript: ENSMUST00000182683
SMART Domains Protein: ENSMUSP00000138375
Gene: ENSMUSG00000069601

DomainStartEndE-ValueType
low complexity region 1 11 N/A INTRINSIC
low complexity region 65 82 N/A INTRINSIC
ZU5 153 257 2.75e-57 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182972
SMART Domains Protein: ENSMUSP00000138481
Gene: ENSMUSG00000069601

DomainStartEndE-ValueType
ANK 4 33 1.43e-5 SMART
low complexity region 61 72 N/A INTRINSIC
low complexity region 126 143 N/A INTRINSIC
ZU5 203 307 2.27e-58 SMART
DEATH 688 782 5.8e-33 SMART
low complexity region 1019 1039 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,977,300 (GRCm39) D98G probably damaging Het
Adgre1 G A 17: 57,750,918 (GRCm39) V531I probably benign Het
Aldoart2 A G 12: 55,612,801 (GRCm39) Q242R probably benign Het
Ank2 A T 3: 126,735,589 (GRCm39) probably benign Het
Ankle2 A G 5: 110,401,704 (GRCm39) I789V probably benign Het
Ankrd13c T C 3: 157,711,410 (GRCm39) V510A probably damaging Het
Arid1b T A 17: 5,393,118 (GRCm39) M2216K probably damaging Het
Arrdc1 A G 2: 24,815,860 (GRCm39) V380A probably benign Het
B3galt1 C A 2: 67,948,913 (GRCm39) N209K possibly damaging Het
Cd300c2 A T 11: 114,887,731 (GRCm39) C224S probably benign Het
Cdk4 T C 10: 126,900,759 (GRCm39) probably null Het
Cdk5rap1 T C 2: 154,210,794 (GRCm39) T115A possibly damaging Het
Clvs1 A T 4: 9,281,831 (GRCm39) R92* probably null Het
Cnga1 A G 5: 72,762,107 (GRCm39) V469A probably damaging Het
Ctns A G 11: 73,087,479 (GRCm39) F16L probably benign Het
Dlg5 A T 14: 24,204,429 (GRCm39) C1299S probably damaging Het
Dnah3 T A 7: 119,530,783 (GRCm39) Y3690F probably damaging Het
Dnah5 A G 15: 28,326,703 (GRCm39) M1971V probably damaging Het
Dnah5 G A 15: 28,388,050 (GRCm39) V3170M probably damaging Het
Dpp8 T C 9: 64,963,200 (GRCm39) Y485H probably benign Het
Dsc2 T C 18: 20,183,214 (GRCm39) D68G probably damaging Het
Eeig2 A G 3: 108,887,544 (GRCm39) V240A probably benign Het
Elavl1 A T 8: 4,351,752 (GRCm39) D121E probably benign Het
Ermap A G 4: 119,040,505 (GRCm39) V311A probably damaging Het
Fbxw11 C T 11: 32,689,226 (GRCm39) R437C probably damaging Het
Gas2l3 T C 10: 89,249,634 (GRCm39) M495V probably benign Het
Hacd1 C T 2: 14,049,948 (GRCm39) probably null Het
Itgav A G 2: 83,619,327 (GRCm39) R596G probably benign Het
Kars1 T C 8: 112,728,352 (GRCm39) H215R possibly damaging Het
Kif26a G A 12: 112,144,228 (GRCm39) R1494H probably damaging Het
Klf12 G A 14: 100,260,393 (GRCm39) S112L possibly damaging Het
Krt77 T C 15: 101,777,998 (GRCm39) Y19C unknown Het
Lrrc4c A G 2: 97,460,834 (GRCm39) T487A probably benign Het
Lrrn1 A G 6: 107,545,851 (GRCm39) M550V probably benign Het
Lsr C A 7: 30,657,634 (GRCm39) R442L probably benign Het
Lysmd2 A C 9: 75,542,728 (GRCm39) T112P probably damaging Het
Mctp2 A T 7: 71,909,017 (GRCm39) S99T probably benign Het
Mettl4 A G 17: 95,047,960 (GRCm39) V227A probably benign Het
Mill2 T A 7: 18,590,608 (GRCm39) probably null Het
Mpp3 T C 11: 101,895,848 (GRCm39) N476D probably benign Het
Mtmr6 C T 14: 60,517,638 (GRCm39) P83L possibly damaging Het
Myh3 T C 11: 66,984,364 (GRCm39) I1067T probably benign Het
Myh9 C A 15: 77,657,540 (GRCm39) Q1068H probably damaging Het
Narf T A 11: 121,141,179 (GRCm39) H304Q possibly damaging Het
Nfatc2ip G T 7: 125,995,784 (GRCm39) P35Q possibly damaging Het
Npas3 C A 12: 54,112,618 (GRCm39) P426Q probably damaging Het
Or10aa3 T G 1: 173,878,400 (GRCm39) S154A possibly damaging Het
Or4e1 G A 14: 52,700,740 (GRCm39) T242I probably damaging Het
Or4f4b T C 2: 111,314,311 (GRCm39) Y207H possibly damaging Het
Or51i1 T A 7: 103,671,219 (GRCm39) Q102L probably damaging Het
Or5p5 A G 7: 107,414,589 (GRCm39) H266R possibly damaging Het
Pcdh10 A T 3: 45,333,917 (GRCm39) E77V probably damaging Het
Pcnt C T 10: 76,192,019 (GRCm39) R2764Q probably damaging Het
Pgbd5 T C 8: 125,097,324 (GRCm39) D493G possibly damaging Het
Piezo2 G T 18: 63,290,333 (GRCm39) T142N probably benign Het
Plcb1 A G 2: 135,187,015 (GRCm39) I761V probably benign Het
Plekhg4 T G 8: 106,108,628 (GRCm39) D1196E probably null Het
Pparg A G 6: 115,427,989 (GRCm39) K159E probably damaging Het
Psmb1 A T 17: 15,718,478 (GRCm39) M16K probably benign Het
Ptprq T C 10: 107,361,595 (GRCm39) I2139V probably benign Het
Ralgapb T A 2: 158,282,887 (GRCm39) S239T probably damaging Het
Serpina11 A G 12: 103,950,923 (GRCm39) V266A probably damaging Het
Sf3a2 C G 10: 80,639,947 (GRCm39) probably benign Het
Smim18 T C 8: 34,232,587 (GRCm39) T11A possibly damaging Het
Snx6 G A 12: 54,817,528 (GRCm39) T7I probably damaging Het
Srcin1 T A 11: 97,442,768 (GRCm39) D75V probably damaging Het
Srsf12 T A 4: 33,231,174 (GRCm39) S223T probably damaging Het
Taf4b G T 18: 14,946,599 (GRCm39) C474F probably damaging Het
Tango6 T A 8: 107,444,722 (GRCm39) C542* probably null Het
Tbc1d24 A G 17: 24,427,510 (GRCm39) S151P possibly damaging Het
Tssk6 T C 8: 70,355,714 (GRCm39) S253P probably benign Het
Ttc39c G A 18: 12,857,999 (GRCm39) W300* probably null Het
Ttc6 T A 12: 57,689,926 (GRCm39) W539R probably benign Het
Ttn T C 2: 76,582,770 (GRCm39) T22708A probably damaging Het
Ttn C A 2: 76,749,053 (GRCm39) E3999* probably null Het
Vill T G 9: 118,897,508 (GRCm39) L261R probably damaging Het
Vmn1r20 T C 6: 57,409,159 (GRCm39) S162P probably damaging Het
Zfp516 T C 18: 82,974,219 (GRCm39) I139T probably benign 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
R1901:Ank3 UTSW 10 69,658,167 (GRCm39) missense probably damaging 1.00
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
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'- TAAGACTAACTCTGAAAAGGGCAC -3'
(R):5'- CAAGACATTGATGATATGCGTGTG -3'

Sequencing Primer
(F):5'- ACTTCCGTTTAGCAAAGC -3'
(R):5'- ATATGCGTGTGGCCCTGC -3'
Posted On 2016-04-27