Incidental Mutation 'R8932:Ank3'
ID 690236
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 068776-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R8932 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 69234608-69863266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69660292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 265 (M265V)
Ref Sequence ENSEMBL: ENSMUSP00000138603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047061] [ENSMUST00000054167] [ENSMUST00000092431] [ENSMUST00000092432] [ENSMUST00000092434] [ENSMUST00000182155] [ENSMUST00000182557] [ENSMUST00000182439] [ENSMUST00000182884] [ENSMUST00000182992] [ENSMUST00000182993] [ENSMUST00000183148] [ENSMUST00000183169] [ENSMUST00000183240] [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 probably benign
Transcript: ENSMUST00000054167
SMART Domains Protein: ENSMUSP00000061698
Gene: ENSMUSG00000069601

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 benign
Transcript: ENSMUST00000092431
SMART Domains Protein: ENSMUSP00000090087
Gene: ENSMUSG00000069601

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 benign
Transcript: ENSMUST00000092432
SMART Domains Protein: ENSMUSP00000090088
Gene: ENSMUSG00000069601

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 probably benign
Transcript: ENSMUST00000092434
SMART Domains Protein: ENSMUSP00000090090
Gene: ENSMUSG00000069601

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 probably benign
Transcript: ENSMUST00000182155
SMART Domains Protein: ENSMUSP00000138347
Gene: ENSMUSG00000069601

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: ENSMUST00000182557
AA Change: M265V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000138603
Gene: ENSMUSG00000069601
AA Change: M265V

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 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: ENSMUST00000182884
SMART Domains Protein: ENSMUSP00000138326
Gene: ENSMUSG00000069601

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: ENSMUST00000182992
SMART Domains Protein: ENSMUSP00000138686
Gene: ENSMUSG00000069601

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
SMART Domains Protein: ENSMUSP00000138601
Gene: ENSMUSG00000069601

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 probably benign
Transcript: ENSMUST00000183148
SMART Domains Protein: ENSMUSP00000138770
Gene: ENSMUSG00000069601

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 benign
Transcript: ENSMUST00000183169
SMART Domains Protein: ENSMUSP00000138348
Gene: ENSMUSG00000069601

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 probably benign
Transcript: ENSMUST00000183240
SMART Domains Protein: ENSMUSP00000138474
Gene: ENSMUSG00000069601

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 probably benign
Transcript: ENSMUST00000218680
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (67/67)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 G T 8: 44,105,192 (GRCm39) T151K probably benign Het
Adnp2 C T 18: 80,185,893 (GRCm39) G27S probably damaging Het
Aoc1l1 G A 6: 48,952,428 (GRCm39) E118K probably damaging Het
Apoe T C 7: 19,430,597 (GRCm39) D215G possibly damaging Het
Atp5f1b A G 10: 127,924,850 (GRCm39) I438V probably benign Het
Bckdha A G 7: 25,330,436 (GRCm39) S387P probably damaging Het
Camkk1 T C 11: 72,924,734 (GRCm39) F316L probably damaging Het
Carmil1 A G 13: 24,197,179 (GRCm39) Y158H Het
Ccdc148 T C 2: 58,894,054 (GRCm39) R29G probably benign Het
Ccdc39 A G 3: 33,884,274 (GRCm39) V356A probably benign Het
Cdan1 G A 2: 120,561,568 (GRCm39) Q66* probably null Het
Ckap4 A T 10: 84,364,290 (GRCm39) S258T probably benign Het
Col5a2 T C 1: 45,419,306 (GRCm39) D1258G probably benign Het
Col6a1 G A 10: 76,552,593 (GRCm39) P431L unknown Het
Cplane1 A G 15: 8,223,859 (GRCm39) Y874C probably damaging Het
Csn1s2a A G 5: 87,933,164 (GRCm39) I138V probably benign Het
Cyp19a1 C T 9: 54,083,861 (GRCm39) G176D probably benign Het
Dnah10 A G 5: 124,878,015 (GRCm39) E2700G possibly damaging Het
Eif3l T A 15: 78,960,006 (GRCm39) Y23* probably null Het
Fam72a A G 1: 131,456,502 (GRCm39) K22E probably benign Het
Golim4 A G 3: 75,805,351 (GRCm39) V258A probably benign Het
Gtf2ird2 C T 5: 134,237,739 (GRCm39) A272V probably benign Het
Hpse T C 5: 100,846,872 (GRCm39) T186A possibly damaging Het
Ift140 A T 17: 25,305,862 (GRCm39) Q816H probably benign Het
Iqca1 A T 1: 90,067,750 (GRCm39) I167N probably damaging Het
Iqgap1 A T 7: 80,401,141 (GRCm39) F515L probably benign Het
Itgb4 G A 11: 115,879,295 (GRCm39) R558H probably benign Het
Kcna10 G A 3: 107,101,419 (GRCm39) D17N probably damaging Het
Kcnj16 A G 11: 110,915,829 (GRCm39) I164V probably damaging Het
Lrrc55 G T 2: 85,026,615 (GRCm39) N136K probably damaging Het
Mdm4 A T 1: 132,940,382 (GRCm39) M50K probably benign Het
Mfge8 A G 7: 78,786,530 (GRCm39) S290P probably damaging Het
Mindy4 G A 6: 55,201,115 (GRCm39) D267N probably benign Het
Mllt10 T A 2: 18,128,617 (GRCm39) S199R probably benign Het
Mms22l T C 4: 24,533,029 (GRCm39) S436P probably damaging Het
Mpped2 A G 2: 106,697,395 (GRCm39) N290S possibly damaging Het
Mrgpra2a A G 7: 47,076,445 (GRCm39) L271P probably benign Het
Myrf T A 19: 10,200,931 (GRCm39) E247D probably benign Het
Ndrg3 A G 2: 156,782,299 (GRCm39) I189T possibly damaging Het
Nenf C T 1: 191,050,148 (GRCm39) E48K probably benign Het
Nlgn2 T A 11: 69,718,994 (GRCm39) N232Y probably damaging Het
Oog2 G T 4: 143,920,685 (GRCm39) M39I probably benign Het
Or9r7 A T 10: 129,962,631 (GRCm39) N98K probably benign Het
Osbpl3 A T 6: 50,304,371 (GRCm39) N461K probably benign Het
P4ha1 A G 10: 59,175,130 (GRCm39) D30G possibly damaging Het
Pappa2 A T 1: 158,590,762 (GRCm39) C1631S probably damaging Het
Pigk A G 3: 152,445,871 (GRCm39) M161V possibly damaging Het
Prdm1 G T 10: 44,317,335 (GRCm39) S496Y probably damaging Het
Prkg2 T C 5: 99,095,299 (GRCm39) N624S possibly damaging Het
Rgs6 A G 12: 83,112,733 (GRCm39) D181G probably damaging Het
Sbf2 A G 7: 110,040,155 (GRCm39) probably null Het
Sbno2 A C 10: 79,898,042 (GRCm39) L728W probably damaging Het
Selenbp2 A T 3: 94,609,793 (GRCm39) I310F probably damaging Het
Shank3 T A 15: 89,432,986 (GRCm39) W1244R possibly damaging Het
Slc34a1 A C 13: 24,004,184 (GRCm39) I395L probably benign Het
Slf1 A T 13: 77,194,693 (GRCm39) D877E probably damaging Het
Smtn T C 11: 3,472,908 (GRCm39) S255G probably benign Het
Tbx2 T A 11: 85,725,533 (GRCm39) D161E probably damaging Het
Tex14 C A 11: 87,324,675 (GRCm39) L26M possibly damaging Het
Traf7 A G 17: 24,731,286 (GRCm39) F249S probably damaging Het
Trpm6 A G 19: 18,815,366 (GRCm39) K1151E possibly damaging Het
Ttc7b A G 12: 100,268,022 (GRCm39) V773A probably benign Het
Ttn G A 2: 76,747,912 (GRCm39) T4379I probably benign Het
Ttn G A 2: 76,602,854 (GRCm39) T18456I probably damaging Het
Ttn G C 2: 76,709,171 (GRCm39) L8703V unknown Het
Ubb T A 11: 62,442,979 (GRCm39) I3N probably damaging Het
Vmn1r209 A T 13: 22,990,343 (GRCm39) W116R probably damaging Het
Vmn1r75 A G 7: 11,614,838 (GRCm39) D190G probably damaging Het
Wdr12 T A 1: 60,130,202 (GRCm39) M70L probably benign Het
Wdr48 C A 9: 119,740,142 (GRCm39) T317K probably damaging Het
Zbtb5 A G 4: 44,993,962 (GRCm39) V474A probably benign Het
Zfp128 C T 7: 12,625,113 (GRCm39) R494C possibly 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
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
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
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'- GAACCAACCGACCATTTGTC -3'
(R):5'- ACAAGTGCATGTAGTTCCCCG -3'

Sequencing Primer
(F):5'- GTCCCGTTTTCTTCACAGAGTGG -3'
(R):5'- CTGTGGGAATGGCAATCACTTAC -3'
Posted On 2021-11-19