Incidental Mutation 'R9680:Kank1'
ID 728520
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9680 (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 25388138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 604 (V604M)
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: V576M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: V576M

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: V604M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: V604M

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: 99.1%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 41,208,239 (GRCm39) Y502N probably damaging Het
Adam6a T A 12: 113,509,484 (GRCm39) L619* probably null Het
Akap9 A T 5: 4,011,587 (GRCm39) R763S probably benign Het
Akt3 G A 1: 176,958,639 (GRCm39) P24S probably damaging Het
Ano2 A T 6: 125,857,382 (GRCm39) probably null Het
B4galnt4 G A 7: 140,647,957 (GRCm39) R491Q possibly damaging Het
Bahcc1 A G 11: 120,163,286 (GRCm39) D528G possibly damaging Het
Camk1g G T 1: 193,030,483 (GRCm39) Q409K probably benign Het
Cdh3 T A 8: 107,274,396 (GRCm39) N638K probably benign Het
Cgnl1 T A 9: 71,562,632 (GRCm39) E882D possibly damaging Het
Cplane1 A G 15: 8,231,785 (GRCm39) N1077S possibly damaging Het
Cpxm2 C T 7: 131,661,651 (GRCm39) E379K probably damaging Het
Cyp3a16 A G 5: 145,389,690 (GRCm39) L225P probably damaging Het
Dchs1 T C 7: 105,411,625 (GRCm39) E1497G probably damaging Het
Denr T A 5: 124,065,117 (GRCm39) S157T possibly damaging Het
Disp3 A G 4: 148,356,101 (GRCm39) I253T probably damaging Het
Dlgap2 C T 8: 14,896,653 (GRCm39) T1043M probably damaging Het
Epb41l5 T C 1: 119,535,804 (GRCm39) T355A probably damaging Het
Etv6 G A 6: 134,013,062 (GRCm39) probably benign Het
Fbn1 T C 2: 125,310,484 (GRCm39) I141V probably benign Het
Fsip2 T G 2: 82,819,272 (GRCm39) S5002A probably benign Het
Gbf1 T G 19: 46,271,837 (GRCm39) V1576G probably damaging Het
Gmfg T A 7: 28,140,733 (GRCm39) probably null Het
Gsdmc4 T C 15: 63,774,706 (GRCm39) E25G possibly damaging Het
Igkv6-23 A T 6: 70,237,884 (GRCm39) L12M possibly damaging Het
Kctd1 A G 18: 15,140,822 (GRCm39) V40A probably damaging Het
Krt222 T C 11: 99,127,065 (GRCm39) K185R possibly damaging Het
Ldc1 A G 4: 130,115,527 (GRCm39) V7A probably benign Het
Lipm T C 19: 34,089,494 (GRCm39) F151L probably damaging Het
Lrrc2 A T 9: 110,791,710 (GRCm39) N154I probably damaging Het
Map1a T A 2: 121,132,865 (GRCm39) M1227K probably damaging Het
Med1 T C 11: 98,071,114 (GRCm39) T78A probably damaging Het
Mrm1 A G 11: 84,710,144 (GRCm39) S19P possibly damaging Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Nap1l1 A G 10: 111,330,657 (GRCm39) Y354C probably damaging Het
Npr1 A G 3: 90,368,448 (GRCm39) V474A probably benign Het
Nyap1 A T 5: 137,733,840 (GRCm39) S398T probably damaging Het
Obox7 C T 7: 14,398,067 (GRCm39) Q36* probably null Het
Or5aq6 A T 2: 86,923,390 (GRCm39) M117K possibly damaging Het
Or6c8 A T 10: 128,915,358 (GRCm39) I158N probably benign Het
P3h1 T A 4: 119,090,428 (GRCm39) L92H probably benign Het
Pappa2 T C 1: 158,609,818 (GRCm39) T1548A possibly damaging Het
Pnisr A G 4: 21,873,586 (GRCm39) E443G probably damaging Het
Prdm2 A G 4: 142,859,079 (GRCm39) S1404P possibly damaging Het
Prom1 A T 5: 44,190,284 (GRCm39) probably null Het
Rbm27 A T 18: 42,455,186 (GRCm39) Q646H probably damaging Het
Scamp3 C T 3: 89,087,561 (GRCm39) R134* probably null Het
Scrt2 T C 2: 151,924,018 (GRCm39) C17R probably benign Het
Setbp1 A G 18: 78,902,498 (GRCm39) S390P probably benign Het
Shank2 A T 7: 143,964,837 (GRCm39) D815V probably damaging Het
Sirt7 G A 11: 120,511,296 (GRCm39) T285M Het
Sis T G 3: 72,863,621 (GRCm39) S206R probably benign Het
Slc24a4 T G 12: 102,193,334 (GRCm39) D206E possibly damaging Het
Slc26a4 C A 12: 31,585,292 (GRCm39) G501C probably damaging Het
Sptb T C 12: 76,677,489 (GRCm39) N115S probably damaging Het
Srprb T C 9: 103,074,807 (GRCm39) T112A possibly damaging Het
Tbk1 G T 10: 121,389,841 (GRCm39) A537E probably benign Het
Tbx19 T A 1: 164,970,067 (GRCm39) H274L probably damaging Het
Tmem130 A G 5: 144,674,233 (GRCm39) S394P probably damaging Het
Tmem40 A G 6: 115,718,517 (GRCm39) S104P possibly damaging Het
Tmprss2 T A 16: 97,379,826 (GRCm39) Q158L probably damaging Het
Tnip1 A T 11: 54,828,876 (GRCm39) V97D possibly damaging Het
Tpr T A 1: 150,314,887 (GRCm39) S1985T probably benign Het
Traf7 CA CAA 17: 24,746,737 (GRCm39) probably benign Het
Trio G T 15: 27,744,158 (GRCm39) N2591K possibly damaging Het
Ushbp1 A T 8: 71,838,573 (GRCm39) C618S possibly damaging Het
Usp34 A G 11: 23,317,385 (GRCm39) S834G possibly damaging Het
Vmn2r103 C A 17: 20,019,525 (GRCm39) C536* probably null Het
Vmn2r124 T A 17: 18,293,758 (GRCm39) V615D probably damaging Het
Zbtb38 G A 9: 96,570,397 (GRCm39) T229I probably benign Het
Zfhx4 T A 3: 5,465,656 (GRCm39) V1963E probably damaging Het
Zfp142 G A 1: 74,610,933 (GRCm39) T954M probably benign Het
Zgrf1 A G 3: 127,409,216 (GRCm39) Y1730C probably benign 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
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
R9746:Kank1 UTSW 19 25,386,872 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTTGTCTTCAGCAAGTTGG -3'
(R):5'- CCTTGGGGAAGCAGACAATC -3'

Sequencing Primer
(F):5'- TCAGCAAGTTGGTGGAGGC -3'
(R):5'- CTTGGGGAAGCAGACAATCACATC -3'
Posted On 2022-10-06