Incidental Mutation 'R6103:Ank1'
ID 485383
Institutional Source Beutler Lab
Gene Symbol Ank1
Ensembl Gene ENSMUSG00000031543
Gene Name ankyrin 1, erythroid
Synonyms Ank-1, pale
MMRRC Submission 044253-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R6103 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 23464860-23640513 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23603999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 937 (S937T)
Ref Sequence ENSEMBL: ENSMUSP00000133322 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084038] [ENSMUST00000110688] [ENSMUST00000117270] [ENSMUST00000117296] [ENSMUST00000117662] [ENSMUST00000118733] [ENSMUST00000141784] [ENSMUST00000121802] [ENSMUST00000152511] [ENSMUST00000173248] [ENSMUST00000173573] [ENSMUST00000123418]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000084038
AA Change: S937T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081051
Gene: ENSMUSG00000031543
AA Change: S937T

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 probably damaging
Transcript: ENSMUST00000110688
AA Change: S958T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543
AA Change: S958T

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: S966T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113495
Gene: ENSMUSG00000031543
AA Change: S966T

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: S921T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113656
Gene: ENSMUSG00000031543
AA Change: S921T

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: S921T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113531
Gene: ENSMUSG00000031543
AA Change: S921T

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: ENSMUST00000118733
AA Change: S937T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112850
Gene: ENSMUSG00000031543
AA Change: S937T

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 probably benign
Transcript: ENSMUST00000141784
AA Change: S921T

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117966
Gene: ENSMUSG00000031543
AA Change: S921T

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: ENSMUST00000121802
AA Change: S966T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543
AA Change: S966T

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: ENSMUST00000152511
AA Change: S522T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116533
Gene: ENSMUSG00000031543
AA Change: S522T

DomainStartEndE-ValueType
ANK 1 29 4.82e-3 SMART
ANK 33 62 7.53e-5 SMART
ANK 66 95 5.49e-7 SMART
ANK 99 128 2.58e-3 SMART
ANK 132 161 1.88e-5 SMART
ANK 165 194 1.02e-6 SMART
ANK 198 227 7.64e-6 SMART
ANK 231 262 3.23e-4 SMART
ANK 264 293 1.38e-3 SMART
ANK 297 326 1.58e-7 SMART
ANK 330 359 2.85e-5 SMART
ZU5 508 612 1.9e-60 SMART
low complexity region 635 644 N/A INTRINSIC
low complexity region 972 982 N/A INTRINSIC
DEATH 990 1090 4.31e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173248
AA Change: S937T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133322
Gene: ENSMUSG00000031543
AA Change: S937T

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 probably damaging
Transcript: ENSMUST00000173573
AA Change: S937T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133901
Gene: ENSMUSG00000031543
AA Change: S937T

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 benign
Transcript: ENSMUST00000123418
SMART Domains Protein: ENSMUSP00000121785
Gene: ENSMUSG00000031543

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
Meta Mutation Damage Score 0.4297 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 95.0%
Validation Efficiency 100% (55/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,768,445 (GRCm39) S926P possibly damaging Het
Acacb T A 5: 114,383,942 (GRCm39) M2157K probably damaging Het
Aco2 T C 15: 81,797,452 (GRCm39) V636A probably benign Het
Adgrf3 T C 5: 30,401,265 (GRCm39) Y51C probably damaging Het
Adprhl1 T C 8: 13,272,055 (GRCm39) T1568A possibly damaging Het
Ankrd50 T C 3: 38,508,578 (GRCm39) E340G probably damaging Het
Avpr1b C T 1: 131,537,155 (GRCm39) P90S probably damaging Het
Cacna2d3 T C 14: 29,118,446 (GRCm39) H159R probably damaging Het
Carmil3 A T 14: 55,742,884 (GRCm39) T1185S probably benign Het
Casp2 A T 6: 42,256,814 (GRCm39) R357S probably damaging Het
Ccdc34 A G 2: 109,848,352 (GRCm39) D47G probably benign Het
Cd109 A G 9: 78,605,596 (GRCm39) probably null Het
Cd209d T C 8: 3,928,304 (GRCm39) Y27C probably damaging Het
Cep350 T A 1: 155,800,322 (GRCm39) D1176V probably benign Het
Cpd A T 11: 76,690,625 (GRCm39) S844T probably benign Het
Cyp4x1 A G 4: 114,968,864 (GRCm39) L380P probably damaging Het
Dscam A G 16: 96,626,781 (GRCm39) V376A probably benign Het
Enam T A 5: 88,650,187 (GRCm39) N565K probably damaging Het
Fam110c G A 12: 31,124,794 (GRCm39) W252* probably null Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Fgb T C 3: 82,951,170 (GRCm39) D281G probably benign Het
Frem2 T A 3: 53,457,209 (GRCm39) T2048S probably benign Het
Fut8 A T 12: 77,378,721 (GRCm39) probably benign Het
Glmp T C 3: 88,235,338 (GRCm39) S238P probably benign Het
Gm35315 T A 5: 110,226,137 (GRCm39) Y434F probably damaging Het
Gnpnat1 A G 14: 45,620,856 (GRCm39) F71S probably damaging Het
Gpnmb A G 6: 49,019,820 (GRCm39) R64G possibly damaging Het
Grxcr1 T C 5: 68,323,547 (GRCm39) F275S possibly damaging Het
Ift140 T A 17: 25,312,100 (GRCm39) C1314S probably damaging Het
Kif9 T C 9: 110,318,917 (GRCm39) I127T possibly damaging Het
Mmd2 A G 5: 142,553,618 (GRCm39) probably null Het
Ms4a3 A T 19: 11,616,582 (GRCm39) V20D possibly damaging Het
Mtres1 A T 10: 43,408,916 (GRCm39) Y76N probably benign Het
Myh7b A G 2: 155,460,663 (GRCm39) E272G probably damaging Het
Naaladl1 G A 19: 6,158,743 (GRCm39) G292S probably damaging Het
Notch2 T A 3: 98,043,059 (GRCm39) Y1475N possibly damaging Het
Obp2a G A 2: 25,590,163 (GRCm39) E21K probably damaging Het
Or5ar1 A G 2: 85,671,776 (GRCm39) Y120H probably damaging Het
Osbpl10 T A 9: 114,890,940 (GRCm39) Y109* probably null Het
Plcd1 A T 9: 118,901,109 (GRCm39) W749R probably benign Het
Ptpro A G 6: 137,377,704 (GRCm39) E718G possibly damaging Het
Rbm4 C T 19: 4,837,947 (GRCm39) R295H probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Setdb2 T C 14: 59,646,981 (GRCm39) probably null Het
Slc25a18 C A 6: 120,766,399 (GRCm39) L131I probably damaging Het
Slc4a10 A G 2: 62,064,809 (GRCm39) H221R probably damaging Het
Tbc1d32 A T 10: 56,026,979 (GRCm39) W757R probably damaging Het
Tmem183a C A 1: 134,275,884 (GRCm39) V331L probably benign Het
Try10 C A 6: 41,333,484 (GRCm39) H76Q probably damaging Het
Ttn T A 2: 76,748,599 (GRCm39) H4150L probably benign Het
Vmn2r52 G A 7: 9,905,327 (GRCm39) P171S probably benign Het
Vmn2r88 A G 14: 51,652,826 (GRCm39) T450A probably benign Het
Yipf7 A T 5: 69,698,405 (GRCm39) V34D probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zg16 A G 7: 126,649,748 (GRCm39) V71A 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
R5011:Ank1 UTSW 8 23,572,300 (GRCm39) missense probably damaging 1.00
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
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'- GATTCCCTCATTCCCAGCAG -3'
(R):5'- AGCTGCATGAGTTTCTCACCTAAG -3'

Sequencing Primer
(F):5'- TCATTCCCAGCAGCCCGG -3'
(R):5'- AGTTTCTCACCTAAGGAACTGGGC -3'
Posted On 2017-08-16