Incidental Mutation 'R7486:Kank1'
ID 580211
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 045560-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7486 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 25214339-25411860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 25388193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 622 (C622Y)
Ref Sequence ENSEMBL: ENSMUSP00000116660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049400] [ENSMUST00000146647]
AlphaFold E9Q238
Predicted Effect probably damaging
Transcript: ENSMUST00000049400
AA Change: C594Y

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: C594Y

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 probably damaging
Transcript: ENSMUST00000146647
AA Change: C622Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: C622Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 T C 12: 81,605,657 (GRCm39) I702V probably benign Het
Adgre5 T C 8: 84,450,515 (GRCm39) E815G probably damaging Het
Adgrl2 A G 3: 148,523,330 (GRCm39) V298A Het
Akp3 A G 1: 87,053,201 (GRCm39) D91G probably damaging Het
Ano8 A G 8: 71,937,642 (GRCm39) probably null Het
Blvra T C 2: 126,929,243 (GRCm39) S136P unknown Het
Cacul1 T A 19: 60,568,868 (GRCm39) M97L probably benign Het
Ccdc80 T C 16: 44,946,542 (GRCm39) V827A probably damaging Het
Cep68 T C 11: 20,192,166 (GRCm39) E11G probably benign Het
Cfap221 A T 1: 119,851,322 (GRCm39) V813E possibly damaging Het
Chd6 A G 2: 160,791,923 (GRCm39) V2478A probably damaging Het
Chmp6 T C 11: 119,807,783 (GRCm39) F148S probably benign Het
Clca3a2 T A 3: 144,503,362 (GRCm39) I863F probably damaging Het
Cnnm2 T C 19: 46,750,513 (GRCm39) V101A possibly damaging Het
Cpne8 A T 15: 90,400,109 (GRCm39) probably null Het
Dmbt1 T G 7: 130,668,192 (GRCm39) C483G unknown Het
Dnah7b G A 1: 46,329,894 (GRCm39) G3246D probably damaging Het
Dnajc3 C A 14: 119,209,816 (GRCm39) T297K probably benign Het
Dpm3 A G 3: 89,174,034 (GRCm39) probably null Het
Eef2k A G 7: 120,457,793 (GRCm39) N51D probably benign Het
Erc1 G A 6: 119,571,907 (GRCm39) Q1022* probably null Het
Ercc5 T A 1: 44,187,224 (GRCm39) M1K probably null Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fat4 C A 3: 39,011,576 (GRCm39) Y2225* probably null Het
Frk G A 10: 34,423,292 (GRCm39) W123* probably null Het
Gm11568 T A 11: 99,749,292 (GRCm39) C166S unknown Het
Gpr153 A G 4: 152,366,858 (GRCm39) D337G probably benign Het
Gpt2 T C 8: 86,252,235 (GRCm39) F517L probably damaging Het
Gsg1 C T 6: 135,214,427 (GRCm39) E361K probably benign Het
Hsfy2 G A 1: 56,676,130 (GRCm39) R136* probably null Het
Insm1 G A 2: 146,065,738 (GRCm39) R518H probably damaging Het
Katnb1 T A 8: 95,825,357 (GRCm39) S640R probably damaging Het
Kcnmb4 A G 10: 116,254,180 (GRCm39) V199A probably benign Het
Lamb1 T G 12: 31,337,441 (GRCm39) S391A probably benign Het
Larp7-ps A T 4: 92,079,506 (GRCm39) V105E probably benign Het
Macf1 T G 4: 123,303,374 (GRCm39) D376A probably benign Het
Map7d1 C A 4: 126,128,179 (GRCm39) R614L unknown Het
Mcm8 C T 2: 132,681,440 (GRCm39) R667W probably damaging Het
Med13l C T 5: 118,866,539 (GRCm39) T531I probably benign Het
Mstn G T 1: 53,103,128 (GRCm39) A155S probably damaging Het
Mycbp2 C T 14: 103,434,690 (GRCm39) R2251K probably damaging Het
Myo19 T C 11: 84,796,463 (GRCm39) S692P probably benign Het
Nipbl A T 15: 8,325,120 (GRCm39) N2514K probably benign Het
Nkd2 T A 13: 73,995,561 (GRCm39) probably benign Het
Nox3 T A 17: 3,720,219 (GRCm39) Y322F probably damaging Het
Nt5dc1 A G 10: 34,275,805 (GRCm39) Y135H probably benign Het
Oog3 T A 4: 143,884,742 (GRCm39) H398L probably benign Het
Or10g9 T A 9: 39,912,181 (GRCm39) Y114F probably benign Het
Or12j4 C T 7: 140,045,947 (GRCm39) probably benign Het
Or1e29 T C 11: 73,667,847 (GRCm39) Y102C probably damaging Het
Otogl A G 10: 107,657,849 (GRCm39) L1027P probably damaging Het
Pcdh20 T A 14: 88,706,050 (GRCm39) I417F possibly damaging Het
Pcdha12 T A 18: 37,154,610 (GRCm39) V443E probably damaging Het
Pcdhga2 A G 18: 37,803,461 (GRCm39) D435G probably benign Het
Pcnt G T 10: 76,254,270 (GRCm39) T853K probably benign Het
Pcnt T C 10: 76,254,271 (GRCm39) T853A probably benign Het
Pgghg T A 7: 140,522,393 (GRCm39) S57R probably benign Het
Ppm1m T C 9: 106,073,810 (GRCm39) D301G probably damaging Het
Ppp6r1 A G 7: 4,642,899 (GRCm39) V519A probably benign Het
Prss41 ACAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCA 17: 24,063,072 (GRCm39) probably benign Het
Rasa3 C T 8: 13,640,201 (GRCm39) probably null Het
Robo4 T C 9: 37,316,870 (GRCm39) V395A probably damaging Het
Scrib A G 15: 75,929,499 (GRCm39) S1123P probably damaging Het
Setd1b A G 5: 123,301,655 (GRCm39) K45E probably benign Het
Slc14a1 T C 18: 78,154,739 (GRCm39) S216G probably benign Het
Slc25a45 A G 19: 5,934,997 (GRCm39) Y282C probably damaging Het
Slc6a5 T C 7: 49,567,078 (GRCm39) S255P possibly damaging Het
Smc2 A T 4: 52,462,861 (GRCm39) Q617L possibly damaging Het
Spo11 G A 2: 172,825,870 (GRCm39) D103N probably benign Het
Tcf20 A T 15: 82,737,935 (GRCm39) M1172K possibly damaging Het
Tesc T A 5: 118,184,382 (GRCm39) S21T probably benign Het
Tie1 C A 4: 118,337,101 (GRCm39) probably null Het
Trim24 T G 6: 37,934,774 (GRCm39) probably null Het
Trpm7 A G 2: 126,673,115 (GRCm39) probably null Het
Unc13d T C 11: 115,965,259 (GRCm39) D193G possibly damaging Het
Upk3a A T 15: 84,902,225 (GRCm39) probably null Het
Vmn2r25 T C 6: 123,800,101 (GRCm39) N747S probably damaging Het
Wipf1 GCCTCCTCCTCCTCCTCCTCCTCC GCCTCCTCCTCCTCCTCCTCC 2: 73,270,418 (GRCm39) probably benign Het
Zbtb2 G A 10: 4,319,025 (GRCm39) Q334* probably null Het
Zfp653 T C 9: 21,967,824 (GRCm39) N494D probably damaging Het
Zfp865 A G 7: 5,034,259 (GRCm39) D748G possibly damaging Het
Zzef1 T C 11: 72,755,612 (GRCm39) S1014P 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
R0426:Kank1 UTSW 19 25,388,837 (GRCm39) missense probably damaging 1.00
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
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'- TCATGTGGACACAAGGGAGTC -3'
(R):5'- ATGACAGCTGCTTCCTCCTG -3'

Sequencing Primer
(F):5'- CACAAGGGAGTCATGTGTTGG -3'
(R):5'- ATGCTTCGGGAGGTGCACTC -3'
Posted On 2019-10-07