Incidental Mutation 'R5177:Kif12'
ID 472466
Institutional Source Beutler Lab
Gene Symbol Kif12
Ensembl Gene ENSMUSG00000028357
Gene Name kinesin family member 12
Synonyms N-9 kinesin
MMRRC Submission 042757-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R5177 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63083867-63090368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63086141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 402 (T402M)
Ref Sequence ENSEMBL: ENSMUSP00000152690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030042] [ENSMUST00000124739] [ENSMUST00000156618]
AlphaFold Q9D2Z8
Predicted Effect probably benign
Transcript: ENSMUST00000030042
AA Change: T402M

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: T402M

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 noncoding transcript
Transcript: ENSMUST00000131760
Predicted Effect probably benign
Transcript: ENSMUST00000154234
Predicted Effect probably benign
Transcript: ENSMUST00000156618
AA Change: T402M

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 97% (71/73)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,115,639 (GRCm39) R575Q probably damaging Het
Arhgap22 T G 14: 33,088,650 (GRCm39) V377G probably benign Het
Asic4 T C 1: 75,427,483 (GRCm39) I3T probably damaging Het
Atp2b4 T C 1: 133,656,506 (GRCm39) T715A probably benign Het
Bltp3a T C 17: 28,103,992 (GRCm39) L464P possibly damaging Het
Ccdc180 A T 4: 45,917,508 (GRCm39) H283L probably damaging Het
Cfap91 A G 16: 38,152,683 (GRCm39) S176P probably benign Het
Cfb A G 17: 35,078,002 (GRCm39) V976A probably damaging Het
Cltc T C 11: 86,595,989 (GRCm39) T1250A probably damaging Het
Cylc2 T C 4: 51,228,587 (GRCm39) probably benign Het
Dcbld1 T A 10: 52,180,730 (GRCm39) D131E probably damaging Het
Dmxl1 T C 18: 50,026,651 (GRCm39) S1920P probably damaging Het
Dnajc13 G A 9: 104,108,185 (GRCm39) H197Y probably benign Het
Dpy19l1 C T 9: 24,349,924 (GRCm39) probably null Het
Ears2 A G 7: 121,643,683 (GRCm39) probably benign Het
Epgn A C 5: 91,176,136 (GRCm39) probably benign Het
Ern1 T C 11: 106,302,601 (GRCm39) T418A probably benign Het
F12 G A 13: 55,567,981 (GRCm39) P476S probably benign Het
Gal3st2c C T 1: 93,936,930 (GRCm39) Q292* probably null Het
Galnt7 C A 8: 58,037,061 (GRCm39) Q109H possibly damaging Het
Gimap1 G T 6: 48,720,032 (GRCm39) G215W probably damaging Het
Gm28042 T A 2: 119,872,082 (GRCm39) probably null Het
Gm5414 A G 15: 101,534,252 (GRCm39) I284T possibly damaging Het
Hddc3 A G 7: 79,992,914 (GRCm39) E10G probably damaging Het
Hmgxb3 T C 18: 61,305,266 (GRCm39) K31E probably damaging Het
Hspg2 A C 4: 137,246,083 (GRCm39) Y989S probably damaging Het
Klhdc4 A T 8: 122,540,529 (GRCm39) L115* probably null Het
Lama2 C T 10: 27,066,699 (GRCm39) V1061M possibly damaging Het
Llgl1 C T 11: 60,602,833 (GRCm39) T836I possibly damaging Het
Map4k4 A G 1: 40,025,922 (GRCm39) D304G probably damaging Het
Matn2 A G 15: 34,433,660 (GRCm39) Q915R possibly damaging Het
Myo18a A G 11: 77,755,668 (GRCm39) probably benign Het
Myorg C A 4: 41,498,407 (GRCm39) E408* probably null Het
Nbn A T 4: 15,965,132 (GRCm39) probably null Het
Nek8 G A 11: 78,061,297 (GRCm39) Q383* probably null Het
Nme7 T G 1: 164,208,245 (GRCm39) Y304* probably null Het
Nol8 A T 13: 49,814,588 (GRCm39) H214L probably benign Het
Nostrin A T 2: 69,006,098 (GRCm39) I261F possibly damaging Het
Oprk1 T G 1: 5,672,897 (GRCm39) C345G probably damaging Het
Or13a18 A G 7: 140,190,102 (GRCm39) T8A probably benign Het
Or52j3 A T 7: 102,836,710 (GRCm39) I301L probably benign Het
Polrmt T C 10: 79,573,310 (GRCm39) S998G probably benign Het
Ppp1r12c T A 7: 4,487,495 (GRCm39) R393* probably null Het
Prpf3 T A 3: 95,757,036 (GRCm39) probably benign Het
Rabl6 T C 2: 25,475,385 (GRCm39) M563V probably benign Het
Rasa2 C A 9: 96,426,844 (GRCm39) E775* probably null Het
Rc3h1 G T 1: 160,779,222 (GRCm39) V552L probably damaging Het
Rhot1 A T 11: 80,137,592 (GRCm39) N365Y possibly damaging Het
Rimbp3 G A 16: 17,027,781 (GRCm39) V402M possibly damaging Het
Rusc2 A T 4: 43,421,805 (GRCm39) probably null Het
Slc25a11 T C 11: 70,536,643 (GRCm39) E141G probably damaging Het
Slc34a1 A T 13: 55,548,975 (GRCm39) I142F probably damaging Het
Socs6 A C 18: 88,887,504 (GRCm39) Y470* probably null Het
Sox12 A T 2: 152,239,098 (GRCm39) L174Q unknown Het
Srl A G 16: 4,314,267 (GRCm39) probably null Het
Tacc1 A T 8: 25,691,237 (GRCm39) V22E probably damaging Het
Thsd7a A T 6: 12,379,582 (GRCm39) C947* probably null Het
Tlr12 A C 4: 128,512,169 (GRCm39) V27G probably damaging Het
Tmprss4 C A 9: 45,085,260 (GRCm39) V398L probably benign Het
Trip6 T C 5: 137,310,434 (GRCm39) D270G probably damaging Het
Uba5 T G 9: 103,926,497 (GRCm39) N355T probably benign Het
Ubr5 A G 15: 38,006,761 (GRCm39) Y1171H probably benign Het
Vmn2r57 A G 7: 41,049,664 (GRCm39) I695T probably benign Het
Vmn2r68 T A 7: 84,871,199 (GRCm39) I695L probably damaging Het
Vmn2r79 T A 7: 86,651,177 (GRCm39) M192K probably damaging Het
Vps16 G T 2: 130,285,288 (GRCm39) E782* probably null Het
Zfp783 A G 6: 47,923,737 (GRCm39) noncoding transcript 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
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
R9711:Kif12 UTSW 4 63,084,126 (GRCm39) missense probably benign
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'- ATCTTAGCCAAAGTAAATGAGCAGG -3'
(R):5'- CCAGAAAGCCATTGTGCTGG -3'

Sequencing Primer
(F):5'- TGTGCTGGCCCAACCTTG -3'
(R):5'- GGCACAGCCTACACAATCATAAAGAG -3'
Posted On 2017-04-07