Incidental Mutation 'R4981:Kank1'
ID 384881
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 042576-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4981 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 25214339-25411860 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25388759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 783 (T783A)
Ref Sequence ENSEMBL: ENSMUSP00000042177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049400] [ENSMUST00000146647]
AlphaFold E9Q238
Predicted Effect probably benign
Transcript: ENSMUST00000049400
AA Change: T783A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: T783A

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: T811A

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: T811A

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 0.0621 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency 100% (105/105)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,095,772 (GRCm39) probably null Het
Aatf T C 11: 84,402,323 (GRCm39) D121G probably benign Het
Amer2 T A 14: 60,617,176 (GRCm39) L331H probably damaging Het
Ang4 T G 14: 52,001,829 (GRCm39) K40Q probably benign Het
Aspm A C 1: 139,398,498 (GRCm39) probably null Het
Cacna1c A T 6: 118,728,432 (GRCm39) D337E probably benign Het
Ccdc124 T C 8: 71,321,429 (GRCm39) E134G probably benign Het
Ccdc7a G T 8: 129,711,464 (GRCm39) A312E probably benign Het
Cd209g A G 8: 4,186,845 (GRCm39) D130G probably damaging Het
Cd320 T C 17: 34,066,549 (GRCm39) S96P probably benign Het
Cenatac A T 9: 44,329,245 (GRCm39) F14Y probably damaging Het
Clu C G 14: 66,210,815 (GRCm39) Q134E probably damaging Het
Cnksr3 T A 10: 7,110,777 (GRCm39) H28L probably benign Het
Cntnap1 T C 11: 101,067,159 (GRCm39) probably null Het
Col22a1 C T 15: 71,732,915 (GRCm39) C546Y unknown Het
Col6a3 C T 1: 90,706,565 (GRCm39) V2183I unknown Het
Cop1 A G 1: 159,152,638 (GRCm39) probably benign Het
Cpne8 T C 15: 90,563,438 (GRCm39) I24V probably benign Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Dennd5b G A 6: 148,911,270 (GRCm39) L978F possibly damaging Het
Depdc1a G T 3: 159,229,550 (GRCm39) M627I probably benign Het
Dnah3 A T 7: 119,555,424 (GRCm39) N2721K probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dsg1b A G 18: 20,541,925 (GRCm39) T811A possibly damaging Het
Emilin1 C G 5: 31,076,695 (GRCm39) Q847E probably benign Het
Epha3 A T 16: 63,472,775 (GRCm39) V370D probably benign Het
Epha5 T A 5: 84,298,342 (GRCm39) T406S probably damaging Het
Ephb1 A T 9: 101,918,159 (GRCm39) I450N probably benign Het
Ephb2 A G 4: 136,423,321 (GRCm39) M319T probably benign Het
Eps15l1 A G 8: 73,132,833 (GRCm39) probably null Het
Fbxo9 G A 9: 77,993,168 (GRCm39) probably benign Het
Fgd5 T C 6: 91,966,281 (GRCm39) I838T probably damaging Het
Fnbp4 T C 2: 90,596,174 (GRCm39) F582L probably damaging Het
Frs3 T C 17: 48,000,187 (GRCm39) probably null Het
Fscb C T 12: 64,520,393 (GRCm39) V358I possibly damaging Het
Fus G T 7: 127,566,727 (GRCm39) probably benign Het
Fyb1 CCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCT 15: 6,676,092 (GRCm39) probably benign Het
Glra3 A T 8: 56,444,270 (GRCm39) I77F possibly damaging Het
Gm4454 C T 7: 38,269,860 (GRCm39) noncoding transcript Het
Gng3 G A 19: 8,815,625 (GRCm39) A37V possibly damaging Het
Grin3b T A 10: 79,812,191 (GRCm39) probably benign Het
Herpud1 A G 8: 95,118,422 (GRCm39) Y41C probably damaging Het
Igkv4-92 G C 6: 68,732,028 (GRCm39) S115R possibly damaging Het
Ikbip T A 10: 90,931,848 (GRCm39) I164N probably benign Het
Kcnq3 A T 15: 65,903,254 (GRCm39) V152E possibly damaging Het
Kif23 C T 9: 61,839,153 (GRCm39) R314H probably damaging Het
Klc4 T C 17: 46,955,287 (GRCm39) H49R probably benign Het
Klhl20 A T 1: 160,930,575 (GRCm39) I309N possibly damaging Het
Lgals4 A G 7: 28,540,701 (GRCm39) Y268C probably damaging Het
Lingo4 A G 3: 94,306,761 (GRCm39) Q13R probably benign Het
Lmtk2 C A 5: 144,113,265 (GRCm39) F1328L probably damaging Het
Mapk14 A G 17: 28,960,765 (GRCm39) R179G probably damaging Het
Mbd3l1 A T 9: 18,396,201 (GRCm39) T109S probably benign Het
Megf6 T C 4: 154,351,907 (GRCm39) F1169L possibly damaging Het
Mrgpra1 A T 7: 46,984,959 (GRCm39) V240D probably damaging Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myh1 T C 11: 67,115,300 (GRCm39) probably benign Het
Nav3 T C 10: 109,716,553 (GRCm39) I172V probably benign Het
Nemp1 T A 10: 127,529,399 (GRCm39) L178Q probably damaging Het
Numa1 T C 7: 101,641,881 (GRCm39) S110P probably damaging Het
Or4a75 A G 2: 89,447,769 (GRCm39) Y256H probably damaging Het
Or4c117 T C 2: 88,955,845 (GRCm39) T77A probably benign Het
Or51k1 A G 7: 103,661,312 (GRCm39) I199T probably damaging Het
Or5ak25 A G 2: 85,268,813 (GRCm39) S230P probably damaging Het
Or8k30 T C 2: 86,339,171 (GRCm39) Y123H probably damaging Het
Or9q1 A T 19: 13,805,458 (GRCm39) F101I probably damaging Het
Pard3b T G 1: 62,383,219 (GRCm39) M771R probably damaging Het
Phkg2 A G 7: 127,181,551 (GRCm39) I245V probably damaging Het
Pik3cg A T 12: 32,254,103 (GRCm39) M628K possibly damaging Het
Poln A G 5: 34,264,429 (GRCm39) probably null Het
Ppip5k1 A T 2: 121,142,871 (GRCm39) S1172T probably damaging Het
Prdm5 A T 6: 65,847,446 (GRCm39) H363L probably damaging Het
Prkdc A G 16: 15,496,173 (GRCm39) Y788C probably damaging Het
Prrc2c T A 1: 162,520,116 (GRCm39) R2076S probably damaging Het
Sh2d2a A G 3: 87,756,728 (GRCm39) Y191C probably damaging Het
Slc20a1 T C 2: 129,041,919 (GRCm39) I94T probably damaging Het
Sptbn2 T C 19: 4,801,686 (GRCm39) V2366A probably benign Het
Stab2 T A 10: 86,796,087 (GRCm39) M387L probably benign Het
Syne2 T G 12: 75,987,993 (GRCm39) M1718R probably damaging Het
Synm G T 7: 67,384,235 (GRCm39) F700L probably benign Het
Tmco4 T C 4: 138,718,012 (GRCm39) F51L possibly damaging Het
Tmem104 C A 11: 115,095,962 (GRCm39) P168T probably damaging Het
Tril G T 6: 53,795,905 (GRCm39) T439K probably benign Het
Trim2 A G 3: 84,085,042 (GRCm39) L559P probably damaging Het
Trim3 A G 7: 105,268,335 (GRCm39) V149A probably damaging Het
Triml2 A G 8: 43,640,717 (GRCm39) N191S probably benign Het
Usp4 A G 9: 108,258,617 (GRCm39) D16G probably benign Het
Vmn2r58 G A 7: 41,486,885 (GRCm39) T670I probably damaging Het
Vmn2r97 G T 17: 19,160,436 (GRCm39) G524* probably null Het
Xpo5 C A 17: 46,531,743 (GRCm39) F426L probably damaging Het
Zfp800 A G 6: 28,247,190 (GRCm39) L84S probably damaging Het
Zranb2 T G 3: 157,252,378 (GRCm39) probably benign Het
Zswim4 C T 8: 84,953,296 (GRCm39) probably null 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
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'- CAGACTGTGGAGATGCGAAC -3'
(R):5'- TTCTCAGCCAGCAACGTCTG -3'

Sequencing Primer
(F):5'- ATGCGAACGGTGGCCATC -3'
(R):5'- AACGTCTGTTGCTCTGCCAG -3'
Posted On 2016-05-10