Incidental Mutation 'R2372:Kif12'
ID 248154
Institutional Source Beutler Lab
Gene Symbol Kif12
Ensembl Gene ENSMUSG00000028357
Gene Name kinesin family member 12
Synonyms N-9 kinesin
MMRRC Submission 040352-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R2372 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 63083867-63090368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 63086796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 347 (T347S)
Ref Sequence ENSEMBL: ENSMUSP00000030042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030042] [ENSMUST00000124739] [ENSMUST00000156618]
AlphaFold Q9D2Z8
Predicted Effect possibly damaging
Transcript: ENSMUST00000030042
AA Change: T347S

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: T347S

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 possibly damaging
Transcript: ENSMUST00000156618
AA Change: T347S

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.2683 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik A G 7: 44,009,704 (GRCm39) L135S probably damaging Het
A2ml1 C T 6: 128,557,349 (GRCm39) A115T probably benign Het
Alpi G T 1: 87,028,316 (GRCm39) T169N probably damaging Het
Ccdc15 T C 9: 37,226,801 (GRCm39) D378G possibly damaging Het
Cpb2 T G 14: 75,505,490 (GRCm39) V162G probably damaging Het
Dnmbp T C 19: 43,890,759 (GRCm39) E336G probably benign Het
Dok6 G C 18: 89,432,988 (GRCm39) R274G probably null Het
Eef1d G A 15: 75,768,166 (GRCm39) R199C probably damaging Het
Epha8 T C 4: 136,660,321 (GRCm39) Y714C probably damaging Het
Fyb1 T C 15: 6,681,388 (GRCm39) probably benign Het
Gfpt2 A G 11: 49,698,542 (GRCm39) N46D probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gm11596 C A 11: 99,684,082 (GRCm39) E13* probably null Het
Gsx2 T C 5: 75,237,713 (GRCm39) F222L probably damaging Het
Hpca T A 4: 129,012,237 (GRCm39) K100* probably null Het
Iqsec1 A G 6: 90,671,636 (GRCm39) S89P probably damaging Het
Knop1 A G 7: 118,452,440 (GRCm39) L93S probably damaging Het
Mib1 A G 18: 10,812,045 (GRCm39) T981A probably damaging Het
N4bp2l1 C T 5: 150,496,246 (GRCm39) E123K probably damaging Het
Npr2 C T 4: 43,650,432 (GRCm39) R976W probably damaging Het
Rbpj T C 5: 53,799,537 (GRCm39) probably benign Het
Ro60 C A 1: 143,646,620 (GRCm39) E42* probably null Het
Ruvbl1 T C 6: 88,462,779 (GRCm39) V301A possibly damaging Het
Sgip1 T C 4: 102,766,988 (GRCm39) probably null Het
Sh3bp2 T C 5: 34,716,840 (GRCm39) I361T probably benign Het
Skint1 T A 4: 111,876,348 (GRCm39) Y90N probably damaging Het
Slc25a45 G A 19: 5,934,580 (GRCm39) V183I probably benign Het
Slco4c1 T A 1: 96,748,925 (GRCm39) H664L probably benign Het
Sult2a4 T A 7: 13,649,225 (GRCm39) I194L probably benign Het
Tecta C A 9: 42,299,570 (GRCm39) D173Y probably damaging Het
Tnrc18 T A 5: 142,745,459 (GRCm39) probably benign Het
Use1 T C 8: 71,821,823 (GRCm39) L169P possibly damaging Het
Zfp335 A G 2: 164,736,959 (GRCm39) L918P probably damaging Het
Zfp451 A T 1: 33,819,133 (GRCm39) probably null 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
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
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'- GCCCAGACTCTGTGACATAGAC -3'
(R):5'- ACAGCAAGCTCACCAAGTTG -3'

Sequencing Primer
(F):5'- GTGACATAGACCCTTGGCTATGAC -3'
(R):5'- CAAGTTGCTGGCAGACTCACTTG -3'
Posted On 2014-11-11