Incidental Mutation 'R9711:Kif12'
ID 730137
Institutional Source Beutler Lab
Gene Symbol Kif12
Ensembl Gene ENSMUSG00000028357
Gene Name kinesin family member 12
Synonyms N-9 kinesin
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R9711 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 63083867-63090368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63084126 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 624 (R624S)
Ref Sequence ENSEMBL: ENSMUSP00000030042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030042] [ENSMUST00000124739] [ENSMUST00000156618]
AlphaFold Q9D2Z8
Predicted Effect probably benign
Transcript: ENSMUST00000030042
AA Change: R624S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: R624S

DomainStartEndE-ValueType
KISc 23 368 4.46e-108 SMART
coiled coil region 376 464 N/A INTRINSIC
low complexity region 538 554 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124739
Predicted Effect probably benign
Transcript: ENSMUST00000154234
Predicted Effect probably benign
Transcript: ENSMUST00000156618
AA Change: R625S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
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.] This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T C 8: 87,275,388 (GRCm39) D430G probably damaging Het
Adgrf1 T C 17: 43,621,580 (GRCm39) S606P possibly damaging Het
Afap1 A G 5: 36,141,540 (GRCm39) N475D probably damaging Het
Ahnak2 A G 12: 112,739,468 (GRCm39) S1535P possibly damaging Het
Akt1 G T 12: 112,624,885 (GRCm39) H194N possibly damaging Het
Api5 T A 2: 94,251,812 (GRCm39) Q396L possibly damaging Het
Aplp2 T C 9: 31,083,303 (GRCm39) N148S probably benign Het
Asb3 A G 11: 31,031,400 (GRCm39) Y340C probably damaging Het
Bbox1 A T 2: 110,098,581 (GRCm39) M332K probably damaging Het
Cabin1 A T 10: 75,579,090 (GRCm39) S449T probably benign Het
Carns1 A G 19: 4,216,007 (GRCm39) V725A possibly damaging Het
Cdkn1b A G 6: 134,898,058 (GRCm39) K59R possibly damaging Het
Cdv3 A T 9: 103,233,539 (GRCm39) I212K probably damaging Het
Clec14a T A 12: 58,314,432 (GRCm39) I397F probably damaging Het
Cnnm1 A G 19: 43,483,469 (GRCm39) I950V possibly damaging Het
Ddi2 A G 4: 141,422,734 (GRCm39) M326T probably benign Het
Dhx30 T C 9: 109,914,103 (GRCm39) T1065A probably benign Het
Eif3c A T 7: 126,146,674 (GRCm39) M808K possibly damaging Het
Evi2 G T 11: 79,406,971 (GRCm39) H201Q possibly damaging Het
Exoc4 A G 6: 33,452,991 (GRCm39) T494A unknown Het
Fam83f T A 15: 80,574,819 (GRCm39) M242K probably damaging Het
Fat4 T C 3: 39,055,374 (GRCm39) Y4198H probably benign Het
Fcgbp C A 7: 27,793,000 (GRCm39) N1001K probably benign Het
Gda G T 19: 21,400,449 (GRCm39) A164E probably damaging Het
Gm19410 T C 8: 36,279,493 (GRCm39) V1786A possibly damaging Het
Gm45871 A G 18: 90,609,069 (GRCm39) N82S probably benign Het
Gnas T A 2: 174,141,392 (GRCm39) S580T unknown Het
Gprin1 G A 13: 54,886,714 (GRCm39) P520L probably benign Het
Gramd4 C T 15: 86,014,751 (GRCm39) R433C probably damaging Het
Ighv5-12 T A 12: 113,665,958 (GRCm39) T47S probably benign Het
Itprid1 T G 6: 55,864,018 (GRCm39) S115A probably damaging Het
Kdm5a T A 6: 120,367,658 (GRCm39) L451Q probably damaging Het
Lepr T A 4: 101,592,851 (GRCm39) Y155* probably null Het
Lnx2 T A 5: 146,961,376 (GRCm39) I519F probably damaging Het
Marchf7 T A 2: 60,060,175 (GRCm39) S101T probably damaging Het
Miox A G 15: 89,220,785 (GRCm39) D230G probably damaging Het
Morc2a T A 11: 3,600,381 (GRCm39) M1K probably null Het
Mtus1 T C 8: 41,536,222 (GRCm39) N498S probably damaging Het
Mxd1 T A 6: 86,645,554 (GRCm39) R46W probably damaging Het
Ndufa11 G C 17: 57,024,843 (GRCm39) A2P possibly damaging Het
Necab2 C T 8: 120,198,513 (GRCm39) H362Y probably damaging Het
Nphp4 G A 4: 152,623,434 (GRCm39) V703I possibly damaging Het
Nup54 T C 5: 92,582,218 (GRCm39) N31S unknown Het
Or13a23-ps1 T A 7: 140,118,497 (GRCm39) S22R probably benign Het
Or1ad6 T C 11: 50,860,316 (GRCm39) L157P probably damaging Het
Or1e34 A T 11: 73,778,696 (GRCm39) C167* probably null Het
Or8b4 A C 9: 37,830,066 (GRCm39) T38P probably damaging Het
P2rx2 T C 5: 110,490,388 (GRCm39) E109G possibly damaging Het
Pcdha7 T C 18: 37,107,409 (GRCm39) S145P probably damaging Het
Pdlim5 A T 3: 141,948,529 (GRCm39) V586E probably damaging Het
Pex5l T C 3: 33,136,204 (GRCm39) E5G probably benign Het
Plch1 T A 3: 63,615,176 (GRCm39) D774V probably damaging Het
Plekhg3 A T 12: 76,611,726 (GRCm39) D335V possibly damaging Het
Pop1 A G 15: 34,530,227 (GRCm39) H905R probably benign Het
Ppm1k T C 6: 57,492,720 (GRCm39) T189A probably damaging Het
Pramel13 A G 4: 144,122,517 (GRCm39) L9P probably damaging Het
Recql5 A G 11: 115,784,367 (GRCm39) V911A probably damaging Het
Rnf145 T A 11: 44,415,830 (GRCm39) L15* probably null Het
Rpl13a A G 7: 44,776,673 (GRCm39) V29A probably benign Het
Rps6ka5 A G 12: 100,540,250 (GRCm39) V491A probably benign Het
Setbp1 T C 18: 78,900,142 (GRCm39) H1175R probably benign Het
Setd5 T C 6: 113,093,063 (GRCm39) S372P probably damaging Het
Slc1a3 T C 15: 8,675,177 (GRCm39) E276G probably damaging Het
Slc36a2 T C 11: 55,070,169 (GRCm39) N136S probably benign Het
Spag1 G A 15: 36,190,683 (GRCm39) probably null Het
Spon1 A C 7: 113,387,685 (GRCm39) T81P probably damaging Het
Sv2b A T 7: 74,856,238 (GRCm39) D17E probably benign Het
Tasor2 A G 13: 3,649,667 (GRCm39) V44A probably benign Het
Tax1bp1 C T 6: 52,704,215 (GRCm39) T65I probably damaging Het
Tenm2 C A 11: 35,915,341 (GRCm39) K2065N probably damaging Het
Ticam2 T C 18: 46,693,658 (GRCm39) D143G probably damaging Het
Tmem132d T C 5: 127,869,579 (GRCm39) E585G possibly damaging Het
Tnfrsf8 C T 4: 145,019,668 (GRCm39) probably null Het
Trim44 C T 2: 102,230,813 (GRCm39) G73R unknown Het
Trpc3 C T 3: 36,692,713 (GRCm39) D760N possibly damaging Het
Tspan9 T A 6: 127,942,715 (GRCm39) M171L probably benign Het
Ugt2b37 A G 5: 87,402,532 (GRCm39) F33S possibly damaging Het
Vav2 A T 2: 27,159,027 (GRCm39) V734E probably damaging Het
Vmn1r214 A G 13: 23,218,508 (GRCm39) M1V probably null Het
Vmn1r24 A T 6: 57,932,804 (GRCm39) V238E probably damaging Het
Vmn2r107 A G 17: 20,577,262 (GRCm39) Q420R probably damaging Het
Vmn2r31 G A 7: 7,387,085 (GRCm39) P829S probably damaging Het
Xpo6 A G 7: 125,712,873 (GRCm39) F703L probably benign Het
Zfp442 T A 2: 150,250,207 (GRCm39) H565L possibly damaging Het
Zfp950 A T 19: 61,116,000 (GRCm39) D2E probably damaging Het
Zfp992 T A 4: 146,551,345 (GRCm39) S355R probably damaging Het
Zwilch A T 9: 64,063,303 (GRCm39) F309Y probably damaging Het
Other mutations in Kif12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Kif12 APN 4 63,084,121 (GRCm39) missense probably damaging 0.99
IGL01377:Kif12 APN 4 63,088,962 (GRCm39) missense probably damaging 1.00
IGL02232:Kif12 APN 4 63,084,732 (GRCm39) missense probably benign 0.00
IGL02671:Kif12 APN 4 63,088,694 (GRCm39) missense probably benign 0.05
IGL02719:Kif12 APN 4 63,086,033 (GRCm39) missense probably benign
IGL03056:Kif12 APN 4 63,085,193 (GRCm39) missense probably null 0.00
ANU05:Kif12 UTSW 4 63,089,660 (GRCm39) small insertion probably benign
ANU23:Kif12 UTSW 4 63,084,121 (GRCm39) missense probably damaging 0.99
ANU74:Kif12 UTSW 4 63,089,663 (GRCm39) frame shift probably null
ANU74:Kif12 UTSW 4 63,089,660 (GRCm39) small insertion probably benign
IGL02984:Kif12 UTSW 4 63,089,660 (GRCm39) small insertion probably benign
R0401:Kif12 UTSW 4 63,087,762 (GRCm39) splice site probably benign
R0927:Kif12 UTSW 4 63,087,010 (GRCm39) missense possibly damaging 0.71
R1589:Kif12 UTSW 4 63,084,737 (GRCm39) missense probably benign 0.00
R2178:Kif12 UTSW 4 63,085,196 (GRCm39) missense probably benign 0.00
R2263:Kif12 UTSW 4 63,087,758 (GRCm39) missense probably benign 0.00
R2372:Kif12 UTSW 4 63,086,796 (GRCm39) missense possibly damaging 0.64
R2404:Kif12 UTSW 4 63,088,790 (GRCm39) missense probably damaging 1.00
R3903:Kif12 UTSW 4 63,086,213 (GRCm39) missense possibly damaging 0.73
R4126:Kif12 UTSW 4 63,084,674 (GRCm39) missense probably benign 0.00
R4271:Kif12 UTSW 4 63,088,983 (GRCm39) missense probably benign 0.39
R4386:Kif12 UTSW 4 63,089,455 (GRCm39) missense probably damaging 1.00
R4750:Kif12 UTSW 4 63,086,020 (GRCm39) missense probably damaging 0.99
R4945:Kif12 UTSW 4 63,086,730 (GRCm39) critical splice donor site probably null
R5177:Kif12 UTSW 4 63,086,141 (GRCm39) missense probably benign 0.13
R5421:Kif12 UTSW 4 63,089,665 (GRCm39) missense probably benign 0.40
R5644:Kif12 UTSW 4 63,084,130 (GRCm39) missense possibly damaging 0.75
R5757:Kif12 UTSW 4 63,088,755 (GRCm39) missense probably damaging 1.00
R5772:Kif12 UTSW 4 63,084,178 (GRCm39) missense probably damaging 1.00
R5858:Kif12 UTSW 4 63,084,647 (GRCm39) missense probably benign 0.04
R5929:Kif12 UTSW 4 63,086,754 (GRCm39) missense probably damaging 0.96
R6648:Kif12 UTSW 4 63,089,554 (GRCm39) critical splice donor site probably null
R7007:Kif12 UTSW 4 63,084,717 (GRCm39) missense probably benign
R7108:Kif12 UTSW 4 63,089,442 (GRCm39) missense probably benign 0.15
R7171:Kif12 UTSW 4 63,086,931 (GRCm39) missense probably damaging 1.00
R7852:Kif12 UTSW 4 63,086,226 (GRCm39) missense probably benign 0.13
R8532:Kif12 UTSW 4 63,087,656 (GRCm39) nonsense probably null
R9022:Kif12 UTSW 4 63,090,121 (GRCm39) missense possibly damaging 0.57
R9029:Kif12 UTSW 4 63,087,704 (GRCm39) missense probably damaging 1.00
R9052:Kif12 UTSW 4 63,090,068 (GRCm39) missense probably damaging 1.00
R9727:Kif12 UTSW 4 63,085,978 (GRCm39) missense probably damaging 1.00
RF011:Kif12 UTSW 4 63,089,664 (GRCm39) small insertion probably benign
RF031:Kif12 UTSW 4 63,089,662 (GRCm39) small insertion probably benign
RF036:Kif12 UTSW 4 63,089,664 (GRCm39) small insertion probably benign
RF039:Kif12 UTSW 4 63,089,662 (GRCm39) small insertion probably benign
RF041:Kif12 UTSW 4 63,089,662 (GRCm39) small insertion probably benign
T0975:Kif12 UTSW 4 63,089,660 (GRCm39) small insertion probably benign
Z1088:Kif12 UTSW 4 63,089,660 (GRCm39) small insertion probably benign
Z1176:Kif12 UTSW 4 63,090,234 (GRCm39) missense possibly damaging 0.95
Z1176:Kif12 UTSW 4 63,089,660 (GRCm39) small insertion probably benign
Z1177:Kif12 UTSW 4 63,089,660 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- CCAGCATATTGTGAACCGAGAC -3'
(R):5'- TCCTGGAAACTTGGGGAAAG -3'

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