Incidental Mutation 'R0270:Ank1'
ID 35225
Institutional Source Beutler Lab
Gene Symbol Ank1
Ensembl Gene ENSMUSG00000031543
Gene Name ankyrin 1, erythroid
Synonyms Ank-1, pale
MMRRC Submission 038496-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.447) question?
Stock # R0270 (G1)
Quality Score 203
Status Validated
Chromosome 8
Chromosomal Location 23464860-23640513 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 23578941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084038] [ENSMUST00000110688] [ENSMUST00000117270] [ENSMUST00000117296] [ENSMUST00000117662] [ENSMUST00000118733] [ENSMUST00000121802] [ENSMUST00000173573] [ENSMUST00000123418] [ENSMUST00000141784] [ENSMUST00000173248]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084038
SMART Domains Protein: ENSMUSP00000081051
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
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: ENSMUST00000110688
SMART Domains Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543

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 benign
Transcript: ENSMUST00000117270
SMART Domains Protein: ENSMUSP00000113495
Gene: ENSMUSG00000031543

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 benign
Transcript: ENSMUST00000117296
SMART Domains Protein: ENSMUSP00000113656
Gene: ENSMUSG00000031543

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 benign
Transcript: ENSMUST00000117662
SMART Domains Protein: ENSMUSP00000113531
Gene: ENSMUSG00000031543

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 benign
Transcript: ENSMUST00000118733
SMART Domains Protein: ENSMUSP00000112850
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
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: ENSMUST00000121802
SMART Domains Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543

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 benign
Transcript: ENSMUST00000173573
SMART Domains Protein: ENSMUSP00000133901
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
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
Predicted Effect probably benign
Transcript: ENSMUST00000141784
SMART Domains Protein: ENSMUSP00000117966
Gene: ENSMUSG00000031543

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 benign
Transcript: ENSMUST00000173248
SMART Domains Protein: ENSMUSP00000133322
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
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
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.7%
  • 10x: 96.0%
  • 20x: 93.2%
Validation Efficiency 99% (113/114)
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T A 1: 120,093,906 (GRCm39) probably benign Het
Aadacl2fm3 T A 3: 59,784,440 (GRCm39) N304K probably benign Het
Abcf3 T A 16: 20,378,918 (GRCm39) probably null Het
Acadm C T 3: 153,641,961 (GRCm39) M190I possibly damaging Het
Adamtsl3 G A 7: 82,206,032 (GRCm39) R739Q probably damaging Het
Ap3b1 T A 13: 94,540,626 (GRCm39) probably benign Het
Arhgdib A G 6: 136,903,732 (GRCm39) V31A probably damaging Het
Arid4a A G 12: 71,119,406 (GRCm39) R342G probably damaging Het
Asic3 C T 5: 24,622,700 (GRCm39) L517F probably benign Het
Atxn7l1 C T 12: 33,392,150 (GRCm39) P242L possibly damaging Het
AY761185 T A 8: 21,434,616 (GRCm39) E37D possibly damaging Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Batf A T 12: 85,755,446 (GRCm39) T100S probably benign Het
Blcap A T 2: 157,399,897 (GRCm39) Y59* probably null Het
Cacnb3 G A 15: 98,540,440 (GRCm39) A350T probably damaging Het
Cdk15 T A 1: 59,349,965 (GRCm39) V319D probably damaging Het
Cenpf T C 1: 189,382,911 (GRCm39) H2661R probably benign Het
Cenpq T C 17: 41,240,941 (GRCm39) E106G probably damaging Het
Cfap43 A G 19: 47,785,642 (GRCm39) probably benign Het
Cfb G A 17: 35,079,362 (GRCm39) S778L possibly damaging Het
Clec2m A T 6: 129,302,571 (GRCm39) L152* probably null Het
Clspn T A 4: 126,467,029 (GRCm39) N631K probably damaging Het
Cntn2 T A 1: 132,449,462 (GRCm39) T660S probably damaging Het
Cntrob T A 11: 69,202,167 (GRCm39) H475L possibly damaging Het
Ddx46 T C 13: 55,821,917 (GRCm39) I863T probably benign Het
Dnah11 G A 12: 118,004,748 (GRCm39) T2191I probably damaging Het
Dock9 T C 14: 121,813,411 (GRCm39) T1703A probably benign Het
Fam13c C T 10: 70,380,343 (GRCm39) P424S probably benign Het
Fan1 T C 7: 63,998,619 (GRCm39) N968D probably benign Het
Fbxl20 A T 11: 97,989,329 (GRCm39) probably benign Het
Fkbp1b A T 12: 4,888,229 (GRCm39) probably benign Het
G930045G22Rik T A 6: 50,824,039 (GRCm39) noncoding transcript Het
Gm28042 C A 2: 119,872,073 (GRCm39) R1008S probably benign Het
Gon4l G A 3: 88,765,707 (GRCm39) S376N probably damaging Het
Gstt3 C A 10: 75,616,749 (GRCm39) R15L probably damaging Het
Gtdc1 A T 2: 44,642,186 (GRCm39) S73T possibly damaging Het
Hhatl A G 9: 121,613,786 (GRCm39) S419P probably benign Het
Hirip3 T G 7: 126,462,363 (GRCm39) S46R probably damaging Het
Hsf2 A G 10: 57,378,735 (GRCm39) T204A probably benign Het
Impg2 G A 16: 56,089,378 (GRCm39) E1108K possibly damaging Het
Itgb2l G T 16: 96,224,130 (GRCm39) probably benign Het
Itih5 A T 2: 10,256,075 (GRCm39) N847I probably benign Het
Kif1a T C 1: 92,982,164 (GRCm39) probably benign Het
Klhl1 T A 14: 96,755,780 (GRCm39) probably benign Het
Ktn1 T A 14: 47,952,119 (GRCm39) D963E probably benign Het
Lclat1 T A 17: 73,547,022 (GRCm39) V313E probably benign Het
Lrrn4 T C 2: 132,712,639 (GRCm39) S395G probably benign Het
Macroh2a1 G A 13: 56,243,927 (GRCm39) probably benign Het
Mbtps1 G A 8: 120,264,856 (GRCm39) probably benign Het
Me1 A G 9: 86,478,257 (GRCm39) probably benign Het
Mov10 C A 3: 104,702,721 (GRCm39) C948F probably benign Het
Mterf1a G A 5: 3,940,990 (GRCm39) Q293* probably null Het
Nfkb2 A T 19: 46,300,065 (GRCm39) M838L possibly damaging Het
Nhlrc2 T A 19: 56,540,302 (GRCm39) L97Q probably damaging Het
Nr6a1 A T 2: 38,629,032 (GRCm39) Y331N possibly damaging Het
Nup214 C T 2: 31,924,826 (GRCm39) A1785V probably damaging Het
Ogg1 C T 6: 113,306,217 (GRCm39) T138I probably benign Het
Or5ac20 A G 16: 59,104,116 (GRCm39) V248A probably damaging Het
Or5b107 A G 19: 13,143,251 (GRCm39) Y291C probably damaging Het
Or5b124 A G 19: 13,611,048 (GRCm39) Y191C probably damaging Het
Or7g17 T A 9: 18,768,127 (GRCm39) Y60N probably damaging Het
Plod2 G T 9: 92,466,574 (GRCm39) R178L probably benign Het
Polr3b T A 10: 84,554,339 (GRCm39) L1017Q probably benign Het
Postn C A 3: 54,291,971 (GRCm39) T724N probably damaging Het
Ppm1l T G 3: 69,225,309 (GRCm39) probably benign Het
Prpf8 T G 11: 75,396,075 (GRCm39) L1983R probably damaging Het
Psma7 A G 2: 179,681,193 (GRCm39) V59A probably benign Het
Qser1 T A 2: 104,619,306 (GRCm39) Y502F probably benign Het
Rad50 T C 11: 53,558,852 (GRCm39) D1129G probably damaging Het
Rasal1 C A 5: 120,812,794 (GRCm39) P606Q probably damaging Het
Rgs6 A G 12: 83,180,463 (GRCm39) Y438C probably damaging Het
Rnf180 A G 13: 105,388,774 (GRCm39) C73R probably benign Het
Rnf216 T A 5: 143,065,996 (GRCm39) I474F possibly damaging Het
Sdha A T 13: 74,480,366 (GRCm39) L371Q probably damaging Het
Sdk1 T G 5: 142,070,321 (GRCm39) L1162R possibly damaging Het
Sh3rf2 T C 18: 42,237,146 (GRCm39) I223T probably damaging Het
Sirpb1a A G 3: 15,475,587 (GRCm39) V316A probably damaging Het
Slc12a4 A T 8: 106,672,021 (GRCm39) I897N probably benign Het
Slc35d1 A T 4: 103,048,035 (GRCm39) V243E probably damaging Het
Slc4a11 T A 2: 130,532,852 (GRCm39) K200N possibly damaging Het
Slc9a8 T A 2: 167,293,216 (GRCm39) M188K probably damaging Het
Slco1a8 T A 6: 141,918,137 (GRCm39) I580F possibly damaging Het
Snrnp200 T C 2: 127,074,902 (GRCm39) S1492P probably damaging Het
Sphk2 T C 7: 45,360,149 (GRCm39) *618W probably null Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tdpoz3 A G 3: 93,734,231 (GRCm39) N302S probably benign Het
Tdrd6 T C 17: 43,935,199 (GRCm39) M1950V probably benign Het
Tmem39a A G 16: 38,384,675 (GRCm39) probably benign Het
Trip4 A T 9: 65,765,640 (GRCm39) I353K probably damaging Het
Trip6 A T 5: 137,311,103 (GRCm39) F204L probably benign Het
Trpm4 T A 7: 44,968,677 (GRCm39) I419F possibly damaging Het
Ttn C A 2: 76,775,140 (GRCm39) E1967D probably damaging Het
Uba2 C T 7: 33,850,281 (GRCm39) V391M possibly damaging Het
Ubr4 T G 4: 139,206,746 (GRCm39) probably benign Het
Upf1 G A 8: 70,788,295 (GRCm39) probably benign Het
Vmn1r228 A C 17: 20,996,858 (GRCm39) V220G possibly damaging Het
Vmn2r79 A G 7: 86,652,594 (GRCm39) M429V probably benign Het
Vps36 C T 8: 22,700,472 (GRCm39) T210I possibly damaging Het
Wdr17 C T 8: 55,146,131 (GRCm39) A90T possibly damaging Het
Ybx1 C T 4: 119,138,788 (GRCm39) G126D probably benign Het
Yipf5 C A 18: 40,339,460 (GRCm39) probably benign Het
Zbtb47 A G 9: 121,596,641 (GRCm39) T666A probably benign Het
Zdhhc5 A C 2: 84,520,459 (GRCm39) S573A probably benign Het
Zfp457 A T 13: 67,441,991 (GRCm39) C99S probably damaging Het
Zfp52 T A 17: 21,781,564 (GRCm39) C471S probably damaging Het
Zfp558 C T 9: 18,379,252 (GRCm39) V71I probably damaging Het
Zfp655 A G 5: 145,181,267 (GRCm39) Y375C probably damaging Het
Zfp882 A T 8: 72,668,459 (GRCm39) T429S probably benign Het
Zmym2 T C 14: 57,187,141 (GRCm39) probably null 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
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
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'- GAACCGTCCTCCCTTAGTTGAAGTG -3'
(R):5'- TATGGCCTGCAAGATGGCATACCC -3'

Sequencing Primer
(F):5'- CTTCGAGTCTTACCGGGCAATAG -3'
(R):5'- GCATACCCGAGAAGGAGCAC -3'
Posted On 2013-05-09