Incidental Mutation 'R7405:Kank1'
ID 574551
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 045376-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 25214339-25411860 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 25387683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 452 (L452*)
Ref Sequence ENSEMBL: ENSMUSP00000116660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049400] [ENSMUST00000146647]
AlphaFold E9Q238
Predicted Effect probably null
Transcript: ENSMUST00000049400
AA Change: L424*
SMART Domains Protein: ENSMUSP00000042177
Gene: ENSMUSG00000032702
AA Change: L424*

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 null
Transcript: ENSMUST00000146647
AA Change: L452*
SMART Domains Protein: ENSMUSP00000116660
Gene: ENSMUSG00000032702
AA Change: L452*

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Grid2ip T C 5: 143,366,199 (GRCm39) I563T probably benign Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown 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
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'- GCGGGGAATTGTACATCGAC -3'
(R):5'- AAGCTGTACTTCTAGGCGGTAAATC -3'

Sequencing Primer
(F):5'- ATCCAGGAGTTCCGACAGCTC -3'
(R):5'- AGGCGGTAAATCTTCTCCTTCAAGG -3'
Posted On 2019-09-13