Incidental Mutation 'R0426:Kank1'
ID 38701
Institutional Source Beutler Lab
Gene Symbol Kank1
Ensembl Gene ENSMUSG00000032702
Gene Name KN motif and ankyrin repeat domains 1
Synonyms Ankrd15, D330024H06Rik, A930031B09Rik
MMRRC Submission 038628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0426 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 25214339-25411860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25388837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 809 (V809I)
Ref Sequence ENSEMBL: ENSMUSP00000042177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049400] [ENSMUST00000146647]
AlphaFold E9Q238
Predicted Effect probably damaging
Transcript: ENSMUST00000049400
AA Change: V809I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: V809I

DomainStartEndE-ValueType
Pfam:KN_motif 30 68 3.3e-24 PFAM
low complexity region 88 105 N/A INTRINSIC
low complexity region 138 148 N/A INTRINSIC
coiled coil region 286 314 N/A INTRINSIC
low complexity region 350 358 N/A INTRINSIC
coiled coil region 362 395 N/A INTRINSIC
coiled coil region 451 494 N/A INTRINSIC
low complexity region 541 556 N/A INTRINSIC
low complexity region 617 629 N/A INTRINSIC
Blast:ANK 963 993 7e-10 BLAST
low complexity region 1010 1030 N/A INTRINSIC
low complexity region 1074 1095 N/A INTRINSIC
ANK 1169 1199 3.71e-4 SMART
ANK 1203 1236 2.27e1 SMART
ANK 1241 1270 1.33e-5 SMART
ANK 1274 1306 5.84e-2 SMART
ANK 1308 1336 4.86e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137260
Predicted Effect probably benign
Transcript: ENSMUST00000146647
AA Change: V837I

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: V837I

DomainStartEndE-ValueType
Pfam:KN_motif 58 96 2e-25 PFAM
low complexity region 116 133 N/A INTRINSIC
low complexity region 166 176 N/A INTRINSIC
coiled coil region 314 342 N/A INTRINSIC
low complexity region 378 386 N/A INTRINSIC
coiled coil region 390 423 N/A INTRINSIC
internal_repeat_1 430 479 3.72e-5 PROSPERO
low complexity region 569 584 N/A INTRINSIC
internal_repeat_1 587 636 3.72e-5 PROSPERO
low complexity region 645 657 N/A INTRINSIC
Blast:ANK 991 1021 4e-10 BLAST
low complexity region 1038 1058 N/A INTRINSIC
low complexity region 1102 1123 N/A INTRINSIC
Meta Mutation Damage Score 0.0822 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (86/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,845,853 (GRCm39) probably benign Het
Acadl A T 1: 66,880,805 (GRCm39) F320L probably damaging Het
Acsbg1 T C 9: 54,530,030 (GRCm39) D222G probably benign Het
Anapc15 A G 7: 101,547,240 (GRCm39) T39A probably benign Het
Ano3 A T 2: 110,491,519 (GRCm39) V919E probably damaging Het
Arhgef12 T C 9: 42,882,286 (GRCm39) probably null Het
Atad5 T A 11: 80,003,658 (GRCm39) I1091N probably benign Het
Atf1 A T 15: 100,130,708 (GRCm39) H26L possibly damaging Het
Atp10a T C 7: 58,434,482 (GRCm39) M252T probably benign Het
Btbd8 C T 5: 107,658,239 (GRCm39) T1603I probably damaging Het
Cd55 C T 1: 130,376,109 (GRCm39) R347H probably benign Het
Cdc27 A C 11: 104,403,853 (GRCm39) probably null Het
Cdh9 G A 15: 16,823,540 (GRCm39) probably null Het
Cdk11b T C 4: 155,726,969 (GRCm39) probably benign Het
Cep70 A G 9: 99,179,737 (GRCm39) D567G probably benign Het
Cep78 A T 19: 15,948,334 (GRCm39) Y382* probably null Het
Cgas G A 9: 78,343,020 (GRCm39) probably benign Het
Col9a2 T C 4: 120,901,857 (GRCm39) probably benign Het
Cyp2d12 G A 15: 82,443,164 (GRCm39) D409N probably benign Het
Ddx39a A G 8: 84,448,398 (GRCm39) T217A probably benign Het
Dennd1b T A 1: 139,097,934 (GRCm39) D733E probably benign Het
Dicer1 A G 12: 104,668,801 (GRCm39) S1294P probably damaging Het
Dnah3 T C 7: 119,542,795 (GRCm39) E3539G probably benign Het
Dnmbp A G 19: 43,840,875 (GRCm39) probably benign Het
Dysf T C 6: 84,126,739 (GRCm39) L1332P probably damaging Het
F5 A G 1: 164,010,409 (GRCm39) D380G probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Fhip1b A C 7: 105,038,680 (GRCm39) C186W probably damaging Het
Galr2 C A 11: 116,172,517 (GRCm39) A69D probably damaging Het
Grk2 T C 19: 4,340,628 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,262,188 (GRCm39) Y1119* probably null Het
Hgd A T 16: 37,409,047 (GRCm39) probably benign Het
Ildr2 G T 1: 166,136,468 (GRCm39) V436L probably benign Het
Intu G A 3: 40,629,735 (GRCm39) C355Y probably damaging Het
Irf2bpl G T 12: 86,929,870 (GRCm39) P268T probably benign Het
Jarid2 T C 13: 44,994,358 (GRCm39) probably null Het
Jup A T 11: 100,263,227 (GRCm39) M716K probably benign Het
Kdm1b T A 13: 47,217,720 (GRCm39) probably benign Het
Kdm3a C T 6: 71,577,739 (GRCm39) C687Y probably damaging Het
Kdm5d T A Y: 942,437 (GRCm39) probably benign Het
Kifap3 T A 1: 163,693,121 (GRCm39) probably benign Het
Macf1 T A 4: 123,377,453 (GRCm39) K1400* probably null Het
Majin A G 19: 6,262,147 (GRCm39) probably benign Het
Mctp1 A G 13: 77,168,940 (GRCm39) I846V probably benign Het
Mrgpra2b T A 7: 47,113,875 (GRCm39) I286F possibly damaging Het
Neil3 T G 8: 54,062,431 (GRCm39) probably benign Het
Nox3 G T 17: 3,745,838 (GRCm39) N23K probably damaging Het
Nt5c3 T C 6: 56,860,797 (GRCm39) K219E probably benign Het
Or1e29 T A 11: 73,667,263 (GRCm39) M297L probably benign Het
Or52b4i T A 7: 102,191,893 (GRCm39) I250N probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6b13 A C 7: 139,782,029 (GRCm39) F218C possibly damaging Het
Or6d13 A T 6: 116,517,446 (GRCm39) N11Y probably damaging Het
Or8g34 T C 9: 39,372,889 (GRCm39) L54P probably damaging Het
Pacsin2 A G 15: 83,263,996 (GRCm39) V347A possibly damaging Het
Pcdhb7 A T 18: 37,475,857 (GRCm39) E331V probably damaging Het
Pcid2 A C 8: 13,131,262 (GRCm39) probably null Het
Pcsk9 T C 4: 106,307,274 (GRCm39) D323G possibly damaging Het
Pdhb T C 14: 8,169,801 (GRCm38) E203G probably damaging Het
Phlpp2 A G 8: 110,655,095 (GRCm39) Y630C probably benign Het
Pidd1 C T 7: 141,019,046 (GRCm39) A812T probably damaging Het
Plau G A 14: 20,892,382 (GRCm39) R389H probably benign Het
Plekhg6 G A 6: 125,341,592 (GRCm39) probably null Het
Ppox T C 1: 171,105,322 (GRCm39) Y321C probably damaging Het
Pxdn A G 12: 30,037,065 (GRCm39) N281S possibly damaging Het
Pycr3 A T 15: 75,790,237 (GRCm39) M138K probably benign Het
Radil T C 5: 142,483,628 (GRCm39) Y526C probably damaging Het
Ranbp3 C A 17: 57,014,169 (GRCm39) D233E probably benign Het
Rhpn1 A G 15: 75,583,721 (GRCm39) Q402R possibly damaging Het
Sec23b T A 2: 144,410,532 (GRCm39) probably benign Het
Sel1l2 A T 2: 140,082,832 (GRCm39) L602* probably null Het
Sema5b G A 16: 35,466,725 (GRCm39) G209D probably damaging Het
Svep1 T C 4: 58,073,333 (GRCm39) Y1992C possibly damaging Het
Syncrip T A 9: 88,338,312 (GRCm39) probably benign Het
Synj1 G T 16: 90,764,242 (GRCm39) A65E probably damaging Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tecrl T C 5: 83,502,610 (GRCm39) probably benign Het
Tenm4 G T 7: 96,427,058 (GRCm39) G698C probably damaging Het
Tmem209 G A 6: 30,491,181 (GRCm39) L259F probably damaging Het
Tmem247 G A 17: 87,225,931 (GRCm39) E124K possibly damaging Het
Tnks2 C A 19: 36,830,221 (GRCm39) A218E probably damaging Het
Tppp T A 13: 74,169,430 (GRCm39) F57I probably damaging Het
Trim36 A G 18: 46,305,592 (GRCm39) W452R probably damaging Het
Vars2 A T 17: 35,975,476 (GRCm39) V262E probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zfp516 G T 18: 82,973,897 (GRCm39) A32S probably benign Het
Zfy2 G T Y: 2,107,348 (GRCm39) L429I possibly damaging Het
Other mutations in Kank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Kank1 APN 19 25,389,122 (GRCm39) missense probably benign
IGL00435:Kank1 APN 19 25,407,600 (GRCm39) missense probably benign 0.41
IGL01105:Kank1 APN 19 25,401,680 (GRCm39) missense possibly damaging 0.80
IGL01974:Kank1 APN 19 25,387,596 (GRCm39) missense possibly damaging 0.87
IGL02031:Kank1 APN 19 25,388,066 (GRCm39) missense probably benign 0.01
IGL02125:Kank1 APN 19 25,388,067 (GRCm39) missense possibly damaging 0.90
IGL02152:Kank1 APN 19 25,405,536 (GRCm39) missense possibly damaging 0.51
IGL02211:Kank1 APN 19 25,407,702 (GRCm39) missense probably damaging 1.00
IGL02440:Kank1 APN 19 25,410,272 (GRCm39) missense probably damaging 1.00
IGL02448:Kank1 APN 19 25,388,739 (GRCm39) missense probably damaging 1.00
IGL02671:Kank1 APN 19 25,405,459 (GRCm39) missense probably damaging 1.00
IGL03102:Kank1 APN 19 25,403,282 (GRCm39) missense probably damaging 1.00
IGL03259:Kank1 APN 19 25,407,705 (GRCm39) missense probably damaging 1.00
IGL02802:Kank1 UTSW 19 25,388,963 (GRCm39) missense probably damaging 1.00
R0107:Kank1 UTSW 19 25,407,730 (GRCm39) unclassified probably benign
R0190:Kank1 UTSW 19 25,386,647 (GRCm39) missense probably benign 0.00
R0330:Kank1 UTSW 19 25,401,677 (GRCm39) missense probably benign 0.00
R0368:Kank1 UTSW 19 25,387,967 (GRCm39) nonsense probably null
R0399:Kank1 UTSW 19 25,388,606 (GRCm39) missense probably benign 0.00
R0483:Kank1 UTSW 19 25,403,357 (GRCm39) unclassified probably benign
R1394:Kank1 UTSW 19 25,405,528 (GRCm39) missense probably damaging 1.00
R1495:Kank1 UTSW 19 25,387,713 (GRCm39) missense probably damaging 0.98
R1681:Kank1 UTSW 19 25,387,668 (GRCm39) missense possibly damaging 0.89
R1698:Kank1 UTSW 19 25,388,681 (GRCm39) missense probably benign 0.11
R1830:Kank1 UTSW 19 25,388,396 (GRCm39) missense probably benign 0.00
R1866:Kank1 UTSW 19 25,388,813 (GRCm39) missense probably benign 0.04
R2138:Kank1 UTSW 19 25,389,117 (GRCm39) missense probably benign 0.00
R2139:Kank1 UTSW 19 25,389,117 (GRCm39) missense probably benign 0.00
R2420:Kank1 UTSW 19 25,387,821 (GRCm39) missense probably damaging 1.00
R3153:Kank1 UTSW 19 25,388,052 (GRCm39) missense possibly damaging 0.89
R4164:Kank1 UTSW 19 25,388,436 (GRCm39) missense probably benign 0.10
R4670:Kank1 UTSW 19 25,387,944 (GRCm39) missense probably benign 0.00
R4685:Kank1 UTSW 19 25,387,398 (GRCm39) missense possibly damaging 0.66
R4843:Kank1 UTSW 19 25,408,371 (GRCm39) missense probably damaging 1.00
R4981:Kank1 UTSW 19 25,388,759 (GRCm39) missense probably benign 0.19
R5189:Kank1 UTSW 19 25,401,545 (GRCm39) missense probably damaging 1.00
R5280:Kank1 UTSW 19 25,388,669 (GRCm39) missense probably benign 0.01
R5330:Kank1 UTSW 19 25,388,693 (GRCm39) missense probably damaging 1.00
R5331:Kank1 UTSW 19 25,388,693 (GRCm39) missense probably damaging 1.00
R5435:Kank1 UTSW 19 25,388,507 (GRCm39) missense probably benign 0.04
R5500:Kank1 UTSW 19 25,401,696 (GRCm39) missense possibly damaging 0.46
R5894:Kank1 UTSW 19 25,401,564 (GRCm39) missense probably damaging 1.00
R6087:Kank1 UTSW 19 25,387,088 (GRCm39) missense probably benign 0.41
R6357:Kank1 UTSW 19 25,388,717 (GRCm39) missense probably benign 0.36
R6490:Kank1 UTSW 19 25,387,449 (GRCm39) missense probably damaging 1.00
R6504:Kank1 UTSW 19 25,405,518 (GRCm39) missense probably damaging 1.00
R6942:Kank1 UTSW 19 25,401,537 (GRCm39) missense possibly damaging 0.88
R7037:Kank1 UTSW 19 25,407,705 (GRCm39) missense probably damaging 1.00
R7405:Kank1 UTSW 19 25,387,683 (GRCm39) nonsense probably null
R7486:Kank1 UTSW 19 25,388,193 (GRCm39) missense probably damaging 0.99
R7602:Kank1 UTSW 19 25,399,525 (GRCm39) missense probably benign 0.01
R7701:Kank1 UTSW 19 25,389,129 (GRCm39) critical splice donor site probably null
R7765:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R7766:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R7768:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R7919:Kank1 UTSW 19 25,408,439 (GRCm39) missense probably damaging 1.00
R7974:Kank1 UTSW 19 25,401,584 (GRCm39) missense probably damaging 1.00
R7978:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R8017:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R8017:Kank1 UTSW 19 25,388,568 (GRCm39) frame shift probably null
R8020:Kank1 UTSW 19 25,388,569 (GRCm39) frame shift probably null
R8150:Kank1 UTSW 19 25,388,163 (GRCm39) missense possibly damaging 0.88
R8322:Kank1 UTSW 19 25,355,842 (GRCm39) start gained probably benign
R8374:Kank1 UTSW 19 25,389,005 (GRCm39) missense probably damaging 0.97
R8705:Kank1 UTSW 19 25,388,907 (GRCm39) missense probably damaging 1.00
R8855:Kank1 UTSW 19 25,388,702 (GRCm39) missense possibly damaging 0.87
R8866:Kank1 UTSW 19 25,388,702 (GRCm39) missense possibly damaging 0.87
R8891:Kank1 UTSW 19 25,387,439 (GRCm39) missense probably benign 0.32
R8894:Kank1 UTSW 19 25,408,378 (GRCm39) missense probably damaging 1.00
R8917:Kank1 UTSW 19 25,386,928 (GRCm39) missense probably damaging 0.99
R9217:Kank1 UTSW 19 25,386,944 (GRCm39) missense possibly damaging 0.92
R9301:Kank1 UTSW 19 25,388,798 (GRCm39) missense probably benign 0.00
R9431:Kank1 UTSW 19 25,387,866 (GRCm39) missense probably damaging 1.00
R9603:Kank1 UTSW 19 25,408,289 (GRCm39) missense possibly damaging 0.95
R9680:Kank1 UTSW 19 25,388,138 (GRCm39) missense probably damaging 1.00
R9746:Kank1 UTSW 19 25,386,872 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCTGTGAAGACCAAAGAGTCG -3'
(R):5'- AGAGCCTTGAGCTACGCAAATCC -3'

Sequencing Primer
(F):5'- CCAAAGAGTCGGGTGTGG -3'
(R):5'- GCTTGCAGACTTCATGACG -3'
Posted On 2013-05-23