Incidental Mutation 'R5011:Ank1'
ID 390510
Institutional Source Beutler Lab
Gene Symbol Ank1
Ensembl Gene ENSMUSG00000031543
Gene Name ankyrin 1, erythroid
Synonyms Ank-1, pale
MMRRC Submission 042602-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R5011 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 23464860-23640513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23572300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 70 (T70I)
Ref Sequence ENSEMBL: ENSMUSP00000117966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084038] [ENSMUST00000110688] [ENSMUST00000117270] [ENSMUST00000117296] [ENSMUST00000117662] [ENSMUST00000118733] [ENSMUST00000173573] [ENSMUST00000121802] [ENSMUST00000123418] [ENSMUST00000141784] [ENSMUST00000173248]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000084038
AA Change: T78I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081051
Gene: ENSMUSG00000031543
AA Change: T78I

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
low complexity region 1050 1059 N/A INTRINSIC
low complexity region 1387 1397 N/A INTRINSIC
DEATH 1405 1499 3.21e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000110688
AA Change: T107I

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543
AA Change: T107I

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
ANK 44 73 2.5e3 SMART
ANK 77 106 3.26e0 SMART
ANK 110 139 3.15e-7 SMART
ANK 143 172 9.05e-8 SMART
ANK 176 204 4.67e-1 SMART
ANK 205 234 1.42e0 SMART
ANK 238 267 4.39e-6 SMART
ANK 271 300 1.33e-5 SMART
ANK 304 333 7.53e-5 SMART
ANK 337 366 2.35e-6 SMART
ANK 370 399 6.65e-6 SMART
ANK 403 432 5.2e-8 SMART
ANK 436 465 8.78e-6 SMART
ANK 469 498 7.53e-5 SMART
ANK 502 531 5.49e-7 SMART
ANK 535 564 2.58e-3 SMART
ANK 568 597 1.88e-5 SMART
ANK 601 630 1.02e-6 SMART
ANK 634 663 7.64e-6 SMART
ANK 667 698 3.23e-4 SMART
ANK 700 729 1.38e-3 SMART
ANK 733 762 1.58e-7 SMART
ANK 766 795 2.85e-5 SMART
ZU5 944 1048 1.9e-60 SMART
low complexity region 1071 1080 N/A INTRINSIC
low complexity region 1408 1418 N/A INTRINSIC
DEATH 1426 1520 3.21e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117270
AA Change: T107I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113495
Gene: ENSMUSG00000031543
AA Change: T107I

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
ANK 44 73 2.5e3 SMART
ANK 77 106 3.26e0 SMART
ANK 110 139 3.15e-7 SMART
ANK 143 172 9.05e-8 SMART
ANK 176 204 4.67e-1 SMART
ANK 205 234 1.42e0 SMART
ANK 238 267 4.39e-6 SMART
ANK 271 300 1.33e-5 SMART
ANK 304 333 7.53e-5 SMART
ANK 337 366 2.35e-6 SMART
ANK 370 399 6.65e-6 SMART
ANK 403 432 5.2e-8 SMART
ANK 436 465 8.78e-6 SMART
ANK 469 498 7.53e-5 SMART
ANK 502 531 5.49e-7 SMART
ANK 535 564 2.58e-3 SMART
ANK 568 597 1.88e-5 SMART
ANK 601 630 1.02e-6 SMART
ANK 634 663 7.64e-6 SMART
ANK 667 698 3.23e-4 SMART
ANK 700 729 1.38e-3 SMART
ANK 733 762 1.58e-7 SMART
ANK 766 795 2.85e-5 SMART
ZU5 952 1056 1.9e-60 SMART
low complexity region 1079 1088 N/A INTRINSIC
low complexity region 1416 1426 N/A INTRINSIC
DEATH 1434 1528 3.21e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117296
AA Change: T70I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113656
Gene: ENSMUSG00000031543
AA Change: T70I

DomainStartEndE-ValueType
ANK 7 36 2.5e3 SMART
ANK 40 69 3.26e0 SMART
ANK 73 102 3.15e-7 SMART
ANK 106 135 9.05e-8 SMART
ANK 139 167 4.67e-1 SMART
ANK 168 197 1.42e0 SMART
ANK 201 230 4.39e-6 SMART
ANK 234 263 1.33e-5 SMART
ANK 267 296 7.53e-5 SMART
ANK 300 329 2.35e-6 SMART
ANK 333 362 6.65e-6 SMART
ANK 366 395 5.2e-8 SMART
ANK 399 428 8.78e-6 SMART
ANK 432 461 7.53e-5 SMART
ANK 465 494 5.49e-7 SMART
ANK 498 527 2.58e-3 SMART
ANK 531 560 1.88e-5 SMART
ANK 564 593 1.02e-6 SMART
ANK 597 626 7.64e-6 SMART
ANK 630 661 3.23e-4 SMART
ANK 663 692 1.38e-3 SMART
ANK 696 725 1.58e-7 SMART
ANK 729 758 2.85e-5 SMART
ZU5 907 1011 1.9e-60 SMART
low complexity region 1034 1043 N/A INTRINSIC
low complexity region 1371 1381 N/A INTRINSIC
DEATH 1389 1483 3.21e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117662
AA Change: T70I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113531
Gene: ENSMUSG00000031543
AA Change: T70I

DomainStartEndE-ValueType
ANK 7 36 2.5e3 SMART
ANK 40 69 3.26e0 SMART
ANK 73 102 3.15e-7 SMART
ANK 106 135 9.05e-8 SMART
ANK 139 167 4.67e-1 SMART
ANK 168 197 1.42e0 SMART
ANK 201 230 4.39e-6 SMART
ANK 234 263 1.33e-5 SMART
ANK 267 296 7.53e-5 SMART
ANK 300 329 2.35e-6 SMART
ANK 333 362 6.65e-6 SMART
ANK 366 395 5.2e-8 SMART
ANK 399 428 8.78e-6 SMART
ANK 432 461 7.53e-5 SMART
ANK 465 494 5.49e-7 SMART
ANK 498 527 2.58e-3 SMART
ANK 531 560 1.88e-5 SMART
ANK 564 593 1.02e-6 SMART
ANK 597 626 7.64e-6 SMART
ANK 630 661 3.23e-4 SMART
ANK 663 692 1.38e-3 SMART
ANK 696 725 1.58e-7 SMART
ANK 729 758 2.85e-5 SMART
ZU5 907 1011 1.9e-60 SMART
low complexity region 1034 1043 N/A INTRINSIC
low complexity region 1371 1381 N/A INTRINSIC
DEATH 1389 1483 3.21e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118733
AA Change: T78I

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112850
Gene: ENSMUSG00000031543
AA Change: T78I

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
low complexity region 1050 1059 N/A INTRINSIC
low complexity region 1387 1397 N/A INTRINSIC
DEATH 1405 1499 3.21e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173573
AA Change: T78I

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133901
Gene: ENSMUSG00000031543
AA Change: T78I

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000121802
AA Change: T107I

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543
AA Change: T107I

DomainStartEndE-ValueType
coiled coil region 1 39 N/A INTRINSIC
ANK 44 73 2.5e3 SMART
ANK 77 106 3.26e0 SMART
ANK 110 139 3.15e-7 SMART
ANK 143 172 9.05e-8 SMART
ANK 176 204 4.67e-1 SMART
ANK 205 234 1.42e0 SMART
ANK 238 267 4.39e-6 SMART
ANK 271 300 1.33e-5 SMART
ANK 304 333 7.53e-5 SMART
ANK 337 366 2.35e-6 SMART
ANK 370 399 6.65e-6 SMART
ANK 403 432 5.2e-8 SMART
ANK 436 465 8.78e-6 SMART
ANK 469 498 7.53e-5 SMART
ANK 502 531 5.49e-7 SMART
ANK 535 564 2.58e-3 SMART
ANK 568 597 1.88e-5 SMART
ANK 601 630 1.02e-6 SMART
ANK 634 663 7.64e-6 SMART
ANK 667 698 3.23e-4 SMART
ANK 700 729 1.38e-3 SMART
ANK 733 762 1.58e-7 SMART
ANK 766 795 2.85e-5 SMART
ZU5 952 1056 1.9e-60 SMART
low complexity region 1079 1088 N/A INTRINSIC
low complexity region 1416 1426 N/A INTRINSIC
DEATH 1434 1528 3.21e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123418
AA Change: T78I

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121785
Gene: ENSMUSG00000031543
AA Change: T78I

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000141784
AA Change: T70I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117966
Gene: ENSMUSG00000031543
AA Change: T70I

DomainStartEndE-ValueType
ANK 7 36 2.5e3 SMART
ANK 40 69 3.26e0 SMART
ANK 73 102 3.15e-7 SMART
ANK 106 135 9.05e-8 SMART
ANK 139 167 4.67e-1 SMART
ANK 168 197 1.42e0 SMART
ANK 201 230 4.39e-6 SMART
ANK 234 263 1.33e-5 SMART
ANK 267 296 7.53e-5 SMART
ANK 300 329 2.35e-6 SMART
ANK 333 362 6.65e-6 SMART
ANK 366 395 5.2e-8 SMART
ANK 399 428 8.78e-6 SMART
ANK 432 461 7.53e-5 SMART
ANK 465 494 5.49e-7 SMART
ANK 498 527 2.58e-3 SMART
ANK 531 560 1.88e-5 SMART
ANK 564 593 1.02e-6 SMART
ANK 597 626 7.64e-6 SMART
ANK 630 661 3.23e-4 SMART
ANK 663 692 1.38e-3 SMART
ANK 696 725 1.58e-7 SMART
ANK 729 758 2.85e-5 SMART
ZU5 907 1011 1.9e-60 SMART
low complexity region 1034 1043 N/A INTRINSIC
low complexity region 1371 1381 N/A INTRINSIC
DEATH 1389 1483 3.21e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173248
AA Change: T78I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133322
Gene: ENSMUSG00000031543
AA Change: T78I

DomainStartEndE-ValueType
ANK 15 44 2.5e3 SMART
ANK 48 77 3.26e0 SMART
ANK 81 110 3.15e-7 SMART
ANK 114 143 9.05e-8 SMART
ANK 147 175 4.67e-1 SMART
ANK 176 205 1.42e0 SMART
ANK 209 238 4.39e-6 SMART
ANK 242 271 1.33e-5 SMART
ANK 275 304 7.53e-5 SMART
ANK 308 337 2.35e-6 SMART
ANK 341 370 6.65e-6 SMART
ANK 374 403 5.2e-8 SMART
ANK 407 436 8.78e-6 SMART
ANK 440 469 7.53e-5 SMART
ANK 473 502 5.49e-7 SMART
ANK 506 535 2.58e-3 SMART
ANK 539 568 1.88e-5 SMART
ANK 572 601 1.02e-6 SMART
ANK 605 634 7.64e-6 SMART
ANK 638 669 3.23e-4 SMART
ANK 671 700 1.38e-3 SMART
ANK 704 733 1.58e-7 SMART
ANK 737 766 2.85e-5 SMART
ZU5 923 1027 1.9e-60 SMART
low complexity region 1050 1059 N/A INTRINSIC
low complexity region 1387 1397 N/A INTRINSIC
DEATH 1405 1499 3.21e-26 SMART
Meta Mutation Damage Score 0.1283 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (104/104)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutant animals are anemic, infertile, and have reduced body size. Mutant animals also exhibit jaundice, bone marrow hyperplasia, splenomegaly, hepatomegaly, enlarged lymph nodes, increased white blood cell count, and cardiac hypertrophy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T C 11: 106,919,324 (GRCm39) V223A probably damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ahctf1 A T 1: 179,611,675 (GRCm39) I565N possibly damaging Het
Atg16l1 C A 1: 87,701,902 (GRCm39) S248* probably null Het
Atp13a5 A T 16: 29,169,566 (GRCm39) L42Q probably damaging Het
Atxn1 T C 13: 45,710,545 (GRCm39) N796D probably damaging Het
C3 T A 17: 57,530,236 (GRCm39) Y455F probably benign Het
Card11 A T 5: 140,862,275 (GRCm39) D1007E possibly damaging Het
Cbr2 T C 11: 120,621,697 (GRCm39) D60G possibly damaging Het
Cgn T A 3: 94,683,455 (GRCm39) E400V probably null Het
Chil3 T A 3: 106,057,477 (GRCm39) Y229F possibly damaging Het
Clcn2 G A 16: 20,525,965 (GRCm39) P785S probably damaging Het
Clk1 T C 1: 58,453,642 (GRCm39) I315V probably benign Het
Cops6 A G 5: 138,160,459 (GRCm39) D102G probably benign Het
Dennd5a A G 7: 109,513,983 (GRCm39) I743T possibly damaging Het
Dnaaf5 T A 5: 139,149,012 (GRCm39) L437Q probably damaging Het
Dnah12 T A 14: 26,431,326 (GRCm39) D381E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Draxin C A 4: 148,192,436 (GRCm39) R292L probably damaging Het
Dst T C 1: 34,289,728 (GRCm39) V5776A probably damaging Het
Eddm13 G A 7: 6,269,332 (GRCm39) probably benign Het
Ercc4 G A 16: 12,941,445 (GRCm39) probably benign Het
Eya1 T A 1: 14,254,582 (GRCm39) N417Y probably damaging Het
Fam149b T A 14: 20,413,439 (GRCm39) H219Q possibly damaging Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fat1 A T 8: 45,484,300 (GRCm39) probably null Het
Fbxl18 A G 5: 142,872,435 (GRCm39) S267P probably damaging Het
Fer1l4 T C 2: 155,873,135 (GRCm39) Y1315C probably damaging Het
Fgd2 T C 17: 29,593,954 (GRCm39) probably null Het
Gm7251 T A 13: 49,958,656 (GRCm39) noncoding transcript Het
Golt1a T C 1: 133,248,006 (GRCm39) V78A probably damaging Het
Gsn T A 2: 35,188,933 (GRCm39) Y440N probably damaging Het
Gtf2ird2 G T 5: 134,245,824 (GRCm39) S694I possibly damaging Het
H2-Ob T A 17: 34,460,253 (GRCm39) probably null Het
Hsp90b1 T C 10: 86,532,617 (GRCm39) D353G probably benign Het
Ilk A G 7: 105,391,456 (GRCm39) D374G probably damaging Het
Invs G A 4: 48,421,807 (GRCm39) R813Q probably damaging Het
Itga7 G A 10: 128,785,316 (GRCm39) V836M possibly damaging Het
Itln1 T A 1: 171,360,958 (GRCm39) K45* probably null Het
Ivd A G 2: 118,710,946 (GRCm39) Y385C probably damaging Het
Ivns1abp T A 1: 151,238,953 (GRCm39) M589K possibly damaging Het
Jakmip3 C T 7: 138,621,951 (GRCm39) R284W probably damaging Het
Kank3 T C 17: 34,041,044 (GRCm39) L512P probably damaging Het
Kcnn2 T A 18: 45,818,352 (GRCm39) I483N possibly damaging Het
Klk1b4 A G 7: 43,860,492 (GRCm39) N170S probably benign Het
Klk1b9 A C 7: 43,445,419 (GRCm39) D203A probably damaging Het
Lbr A T 1: 181,647,453 (GRCm39) Y199* probably null Het
Lcn6 T A 2: 25,567,082 (GRCm39) probably null Het
Lrriq1 T C 10: 103,025,784 (GRCm39) D946G probably damaging Het
Ltbp1 T A 17: 75,373,152 (GRCm39) L265H probably damaging Het
Maml3 A T 3: 51,598,196 (GRCm39) N183K possibly damaging Het
Mprip T C 11: 59,650,721 (GRCm39) V1475A possibly damaging Het
Myh4 C A 11: 67,147,189 (GRCm39) S1611R probably benign Het
Nagpa A T 16: 5,013,743 (GRCm39) M365K probably benign Het
Nckap5l G T 15: 99,324,457 (GRCm39) P682Q probably benign Het
Nudt12 T C 17: 59,303,499 (GRCm39) probably benign Het
Nup153 T C 13: 46,840,879 (GRCm39) T910A possibly damaging Het
Or1e31 T A 11: 73,690,473 (GRCm39) T37S possibly damaging Het
Or5ae2 T C 7: 84,505,646 (GRCm39) V23A probably damaging Het
Or7c74 A G 2: 37,160,937 (GRCm39) noncoding transcript Het
Or8k53 A T 2: 86,177,647 (GRCm39) F154L probably benign Het
Pate14 T C 9: 36,549,120 (GRCm39) N47D probably benign Het
Pbx2 T A 17: 34,813,673 (GRCm39) C224* probably null Het
Pcdha6 A G 18: 37,100,960 (GRCm39) D51G probably damaging Het
Pnpla1 C T 17: 29,104,558 (GRCm39) T538I possibly damaging Het
Pnpla2 T C 7: 141,039,204 (GRCm39) probably null Het
Psme2b C T 11: 48,836,654 (GRCm39) E98K probably benign Het
Ranbp2 T A 10: 58,297,717 (GRCm39) S375T probably benign Het
Rimbp2 T C 5: 128,880,985 (GRCm39) Y134C probably damaging Het
Ryr1 G A 7: 28,802,234 (GRCm39) probably null Het
Sh3tc1 G T 5: 35,857,633 (GRCm39) A1185D probably damaging Het
Sin3b G A 8: 73,471,184 (GRCm39) S377N probably benign Het
Slc28a2 T C 2: 122,288,371 (GRCm39) M554T possibly damaging Het
Snhg11 T C 2: 158,218,872 (GRCm39) probably benign Het
Spink5 A T 18: 44,139,479 (GRCm39) N614I probably damaging Het
Tert T C 13: 73,794,428 (GRCm39) probably null Het
Thap4 T C 1: 93,677,598 (GRCm39) Y396C probably damaging Het
Tle2 T C 10: 81,420,531 (GRCm39) L348P probably damaging Het
Tmem104 T C 11: 115,134,312 (GRCm39) S283P probably damaging Het
Tnn T C 1: 159,953,949 (GRCm39) E602G possibly damaging Het
Tpm4 A G 8: 72,900,938 (GRCm39) K190R probably benign Het
Ttf2 T C 3: 100,870,485 (GRCm39) E196G probably benign Het
Ugt3a1 T C 15: 9,365,373 (GRCm39) W329R probably damaging Het
Unc13a G A 8: 72,094,121 (GRCm39) Q1327* probably null Het
Vmn1r194 C T 13: 22,429,058 (GRCm39) T225I probably benign Het
Vmn1r215 T C 13: 23,260,721 (GRCm39) S254P probably damaging Het
Vmn2r109 T C 17: 20,775,451 (GRCm39) E92G probably damaging Het
Ythdc2 A G 18: 44,987,809 (GRCm39) M625V probably benign Het
Zfp106 A G 2: 120,341,015 (GRCm39) W1832R probably damaging Het
Zfp189 G A 4: 49,530,438 (GRCm39) G514S probably damaging Het
Zfp768 T C 7: 126,942,875 (GRCm39) R418G probably damaging Het
Zmynd11 C T 13: 9,739,479 (GRCm39) probably benign Het
Other mutations in Ank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00972:Ank1 APN 8 23,631,660 (GRCm39) missense probably damaging 1.00
IGL01099:Ank1 APN 8 23,598,265 (GRCm39) missense probably damaging 0.97
IGL01586:Ank1 APN 8 23,610,928 (GRCm39) missense probably benign
IGL01866:Ank1 APN 8 23,583,871 (GRCm39) missense possibly damaging 0.88
IGL01977:Ank1 APN 8 23,605,449 (GRCm39) missense probably benign 0.01
IGL02109:Ank1 APN 8 23,586,200 (GRCm39) missense probably damaging 1.00
IGL02182:Ank1 APN 8 23,603,868 (GRCm39) missense possibly damaging 0.89
IGL02261:Ank1 APN 8 23,578,015 (GRCm39) missense probably damaging 1.00
IGL02283:Ank1 APN 8 23,609,450 (GRCm39) critical splice donor site probably null
IGL02335:Ank1 APN 8 23,625,654 (GRCm39) missense possibly damaging 0.86
IGL02933:Ank1 APN 8 23,612,881 (GRCm39) missense possibly damaging 0.52
IGL03056:Ank1 APN 8 23,631,195 (GRCm39) missense probably damaging 1.00
IGL03089:Ank1 APN 8 23,594,848 (GRCm39) missense probably benign 0.00
IGL03257:Ank1 APN 8 23,612,914 (GRCm39) missense probably damaging 1.00
IGL03389:Ank1 APN 8 23,578,076 (GRCm39) critical splice donor site probably null
Hema6 UTSW 8 23,587,653 (GRCm39) intron probably benign
BB006:Ank1 UTSW 8 23,606,123 (GRCm39) missense probably damaging 1.00
BB016:Ank1 UTSW 8 23,606,123 (GRCm39) missense probably damaging 1.00
R0030:Ank1 UTSW 8 23,583,909 (GRCm39) missense probably damaging 1.00
R0077:Ank1 UTSW 8 23,630,183 (GRCm39) missense probably damaging 1.00
R0081:Ank1 UTSW 8 23,606,258 (GRCm39) missense possibly damaging 0.95
R0147:Ank1 UTSW 8 23,613,993 (GRCm39) missense probably damaging 1.00
R0148:Ank1 UTSW 8 23,613,993 (GRCm39) missense probably damaging 1.00
R0200:Ank1 UTSW 8 23,586,828 (GRCm39) missense probably damaging 1.00
R0270:Ank1 UTSW 8 23,578,941 (GRCm39) splice site probably benign
R0309:Ank1 UTSW 8 23,594,825 (GRCm39) missense probably damaging 1.00
R0490:Ank1 UTSW 8 23,597,890 (GRCm39) splice site probably benign
R0675:Ank1 UTSW 8 23,600,400 (GRCm39) splice site probably benign
R0738:Ank1 UTSW 8 23,604,130 (GRCm39) missense probably damaging 0.98
R1051:Ank1 UTSW 8 23,583,956 (GRCm39) missense probably damaging 1.00
R1239:Ank1 UTSW 8 23,586,171 (GRCm39) missense probably damaging 1.00
R1265:Ank1 UTSW 8 23,607,053 (GRCm39) missense possibly damaging 0.64
R1367:Ank1 UTSW 8 23,601,819 (GRCm39) splice site probably benign
R1413:Ank1 UTSW 8 23,609,393 (GRCm39) missense probably damaging 1.00
R1539:Ank1 UTSW 8 23,583,935 (GRCm39) missense probably damaging 1.00
R1682:Ank1 UTSW 8 23,599,343 (GRCm39) missense probably damaging 1.00
R1732:Ank1 UTSW 8 23,601,479 (GRCm39) splice site probably benign
R1911:Ank1 UTSW 8 23,589,666 (GRCm39) missense probably damaging 1.00
R2087:Ank1 UTSW 8 23,583,827 (GRCm39) missense probably damaging 1.00
R2184:Ank1 UTSW 8 23,599,270 (GRCm39) missense probably damaging 0.98
R2302:Ank1 UTSW 8 23,609,415 (GRCm39) missense probably damaging 1.00
R2356:Ank1 UTSW 8 23,575,688 (GRCm39) missense probably damaging 1.00
R2495:Ank1 UTSW 8 23,622,280 (GRCm39) missense probably damaging 1.00
R3000:Ank1 UTSW 8 23,609,447 (GRCm39) missense probably damaging 1.00
R3113:Ank1 UTSW 8 23,574,813 (GRCm39) missense probably damaging 1.00
R3710:Ank1 UTSW 8 23,577,095 (GRCm39) missense probably damaging 1.00
R3768:Ank1 UTSW 8 23,606,202 (GRCm39) missense possibly damaging 0.92
R3771:Ank1 UTSW 8 23,613,913 (GRCm39) missense probably benign 0.03
R4002:Ank1 UTSW 8 23,629,479 (GRCm39) missense probably damaging 0.98
R4478:Ank1 UTSW 8 23,610,594 (GRCm39) missense probably benign 0.30
R4755:Ank1 UTSW 8 23,594,990 (GRCm39) missense probably damaging 1.00
R4756:Ank1 UTSW 8 23,612,893 (GRCm39) missense probably benign
R4979:Ank1 UTSW 8 23,622,212 (GRCm39) missense probably damaging 0.98
R4989:Ank1 UTSW 8 23,631,134 (GRCm39) intron probably benign
R5013:Ank1 UTSW 8 23,572,300 (GRCm39) missense probably damaging 1.00
R5031:Ank1 UTSW 8 23,589,696 (GRCm39) missense probably damaging 1.00
R5051:Ank1 UTSW 8 23,609,397 (GRCm39) missense probably damaging 1.00
R5059:Ank1 UTSW 8 23,586,204 (GRCm39) missense probably damaging 0.99
R5086:Ank1 UTSW 8 23,578,634 (GRCm39) missense probably damaging 1.00
R5108:Ank1 UTSW 8 23,622,571 (GRCm39) missense probably benign 0.11
R5235:Ank1 UTSW 8 23,572,212 (GRCm39) missense probably damaging 1.00
R5300:Ank1 UTSW 8 23,622,517 (GRCm39) missense probably benign 0.00
R5408:Ank1 UTSW 8 23,572,209 (GRCm39) missense probably damaging 1.00
R5537:Ank1 UTSW 8 23,604,892 (GRCm39) missense probably damaging 1.00
R5728:Ank1 UTSW 8 23,612,783 (GRCm39) critical splice acceptor site probably null
R5746:Ank1 UTSW 8 23,606,612 (GRCm39) missense probably damaging 1.00
R5837:Ank1 UTSW 8 23,594,806 (GRCm39) missense probably damaging 0.99
R5907:Ank1 UTSW 8 23,630,220 (GRCm39) missense probably damaging 1.00
R5997:Ank1 UTSW 8 23,589,678 (GRCm39) missense probably damaging 1.00
R6005:Ank1 UTSW 8 23,622,218 (GRCm39) missense probably damaging 1.00
R6046:Ank1 UTSW 8 23,606,114 (GRCm39) missense probably damaging 1.00
R6103:Ank1 UTSW 8 23,603,999 (GRCm39) missense probably damaging 1.00
R6268:Ank1 UTSW 8 23,599,687 (GRCm39) missense probably damaging 1.00
R6430:Ank1 UTSW 8 23,622,125 (GRCm39) missense probably damaging 1.00
R6457:Ank1 UTSW 8 23,577,983 (GRCm39) missense probably damaging 1.00
R6626:Ank1 UTSW 8 23,465,207 (GRCm39) missense probably damaging 0.98
R6935:Ank1 UTSW 8 23,598,247 (GRCm39) missense probably damaging 1.00
R7091:Ank1 UTSW 8 23,548,679 (GRCm39) missense probably benign
R7162:Ank1 UTSW 8 23,622,370 (GRCm39) missense possibly damaging 0.94
R7475:Ank1 UTSW 8 23,622,646 (GRCm39) missense probably benign
R7546:Ank1 UTSW 8 23,555,011 (GRCm39) missense probably damaging 1.00
R7678:Ank1 UTSW 8 23,607,074 (GRCm39) missense probably damaging 0.98
R7768:Ank1 UTSW 8 23,588,013 (GRCm39) missense probably benign 0.01
R7779:Ank1 UTSW 8 23,586,763 (GRCm39) critical splice acceptor site probably null
R7864:Ank1 UTSW 8 23,577,976 (GRCm39) missense probably damaging 1.00
R7929:Ank1 UTSW 8 23,606,123 (GRCm39) missense probably damaging 1.00
R7982:Ank1 UTSW 8 23,609,397 (GRCm39) missense probably damaging 1.00
R7984:Ank1 UTSW 8 23,578,982 (GRCm39) missense probably damaging 1.00
R8273:Ank1 UTSW 8 23,575,668 (GRCm39) missense probably damaging 1.00
R8318:Ank1 UTSW 8 23,605,567 (GRCm39) missense probably damaging 0.99
R8349:Ank1 UTSW 8 23,629,302 (GRCm39) missense possibly damaging 0.66
R8449:Ank1 UTSW 8 23,629,302 (GRCm39) missense possibly damaging 0.66
R8459:Ank1 UTSW 8 23,605,528 (GRCm39) missense probably damaging 1.00
R8506:Ank1 UTSW 8 23,586,851 (GRCm39) missense probably damaging 1.00
R8889:Ank1 UTSW 8 23,606,990 (GRCm39) missense probably damaging 1.00
R8893:Ank1 UTSW 8 23,598,241 (GRCm39) missense probably damaging 1.00
R8924:Ank1 UTSW 8 23,589,011 (GRCm39) missense probably benign 0.00
R8993:Ank1 UTSW 8 23,588,955 (GRCm39) missense probably damaging 1.00
R9016:Ank1 UTSW 8 23,606,264 (GRCm39) missense probably null 0.99
R9017:Ank1 UTSW 8 23,606,264 (GRCm39) missense probably null 0.99
R9018:Ank1 UTSW 8 23,606,264 (GRCm39) missense probably null 0.99
R9086:Ank1 UTSW 8 23,589,636 (GRCm39) missense probably damaging 0.96
R9154:Ank1 UTSW 8 23,605,387 (GRCm39) missense probably damaging 0.96
R9194:Ank1 UTSW 8 23,606,255 (GRCm39) missense possibly damaging 0.64
R9347:Ank1 UTSW 8 23,607,076 (GRCm39) missense possibly damaging 0.65
R9419:Ank1 UTSW 8 23,574,825 (GRCm39) missense probably damaging 1.00
R9452:Ank1 UTSW 8 23,622,429 (GRCm39) missense probably benign 0.00
R9568:Ank1 UTSW 8 23,609,381 (GRCm39) missense probably benign
R9689:Ank1 UTSW 8 23,631,253 (GRCm39) missense probably benign
R9747:Ank1 UTSW 8 23,576,993 (GRCm39) missense probably damaging 0.97
RF024:Ank1 UTSW 8 23,609,360 (GRCm39) missense probably benign 0.37
X0066:Ank1 UTSW 8 23,631,600 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- ACCCAGTCCTTAGAGTGTCG -3'
(R):5'- AAGGGTCATGGTCTCAGAGC -3'

Sequencing Primer
(F):5'- GGAGTGGGCAGTCTCACTAAC -3'
(R):5'- GATGGTTTCTACACACAGGGTCC -3'
Posted On 2016-06-06