Incidental Mutation 'R0927:Kif12'
ID 80485
Institutional Source Beutler Lab
Gene Symbol Kif12
Ensembl Gene ENSMUSG00000028357
Gene Name kinesin family member 12
Synonyms N-9 kinesin
MMRRC Submission 039074-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R0927 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 63083867-63090368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63087010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 305 (R305G)
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: R305G

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: R305G

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: R305G

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.7%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,607,317 (GRCm39) L363P probably damaging Het
Adam12 T A 7: 133,599,959 (GRCm39) H85L probably damaging Het
Adam34 A T 8: 44,104,621 (GRCm39) H341Q probably damaging Het
Adam34l A T 8: 44,078,160 (GRCm39) M688K probably benign Het
Adam7 A G 14: 68,754,133 (GRCm39) L322P probably damaging Het
Adcy5 T A 16: 34,976,613 (GRCm39) S49T probably benign Het
Arfgap2 T C 2: 91,104,150 (GRCm39) S374P probably benign Het
Arpp19 G A 9: 74,944,967 (GRCm39) probably benign Het
Baz1a T C 12: 54,941,773 (GRCm39) K1478E probably damaging Het
Cdc27 G T 11: 104,396,467 (GRCm39) A812E possibly damaging Het
Chtf8 G A 8: 107,612,150 (GRCm39) T263I probably damaging Het
Clcn6 T C 4: 148,113,849 (GRCm39) N70D probably benign Het
Cntnap5c A T 17: 58,349,553 (GRCm39) T289S possibly damaging Het
Dzip3 T C 16: 48,795,840 (GRCm39) N177S probably damaging Het
Edar G T 10: 58,465,313 (GRCm39) probably null Het
Enam T A 5: 88,641,919 (GRCm39) N244K possibly damaging Het
Fbxw10 A G 11: 62,767,770 (GRCm39) K874E probably damaging Het
Glra3 A G 8: 56,578,239 (GRCm39) E432G possibly damaging Het
Grin3b G A 10: 79,807,062 (GRCm39) R110Q probably benign Het
Herc3 T A 6: 58,845,748 (GRCm39) V423D possibly damaging Het
Ifit2 A T 19: 34,550,984 (GRCm39) T175S probably benign Het
Kcnj8 T G 6: 142,511,627 (GRCm39) I327L possibly damaging Het
Kcns2 A T 15: 34,839,242 (GRCm39) I202F probably benign Het
Limch1 A G 5: 67,154,576 (GRCm39) D362G probably damaging Het
Lrba T C 3: 86,687,540 (GRCm39) I2815T probably damaging Het
Lrrtm1 G T 6: 77,221,843 (GRCm39) M433I probably damaging Het
Myh7b A G 2: 155,462,040 (GRCm39) D312G probably damaging Het
Nrxn1 A T 17: 90,344,758 (GRCm39) I382N probably damaging Het
Nudt6 C T 3: 37,459,502 (GRCm39) R161H probably benign Het
Or10w1 T A 19: 13,631,816 (GRCm39) W8R probably damaging Het
Or11g2 A C 14: 50,856,044 (GRCm39) M122L possibly damaging Het
Or4m1 A T 14: 50,558,186 (GRCm39) Y35* probably null Het
Or7e166 C T 9: 19,624,945 (GRCm39) A274V probably benign Het
Pmf1 A T 3: 88,303,369 (GRCm39) V64D probably damaging Het
Pomgnt1 T A 4: 116,009,048 (GRCm39) V29D probably damaging Het
Pramel22 T A 4: 143,380,790 (GRCm39) H411L possibly damaging Het
Pramel26 A T 4: 143,539,378 (GRCm39) D38E probably benign Het
Prex1 C T 2: 166,428,457 (GRCm39) A925T probably benign Het
Pus3 A G 9: 35,476,327 (GRCm39) Y72C probably damaging Het
Rnf20 T C 4: 49,642,176 (GRCm39) S247P probably damaging Het
Rnf213 T A 11: 119,305,396 (GRCm39) D542E probably benign Het
Sidt1 T C 16: 44,063,895 (GRCm39) D786G probably benign Het
Sirt6 A T 10: 81,458,475 (GRCm39) D219E probably damaging Het
Slc36a2 A T 11: 55,072,411 (GRCm39) I67N probably damaging Het
Slc47a1 A G 11: 61,264,248 (GRCm39) F57S probably damaging Het
Spg11 T A 2: 121,924,968 (GRCm39) T756S probably damaging Het
Sptbn1 C A 11: 30,071,591 (GRCm39) R1447L probably damaging Het
Tcf7l2 A G 19: 55,907,387 (GRCm39) M340V probably damaging Het
Thap1 T C 8: 26,652,733 (GRCm39) V157A probably benign Het
Ubash3b G A 9: 40,934,853 (GRCm39) Q354* probably null Het
Ubtd1 G A 19: 42,020,460 (GRCm39) W68* probably null Het
Wdr64 G T 1: 175,620,647 (GRCm39) R793L probably damaging Het
Zbtb24 C T 10: 41,327,432 (GRCm39) T106I probably benign Het
Zbtb26 T C 2: 37,326,337 (GRCm39) N233S possibly damaging Het
Zcchc24 A T 14: 25,757,585 (GRCm39) N99K possibly 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
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
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'- GCATATCGCAGAGTGCTGAGAGTC -3'
(R):5'- CACATCTGTGCCTTCAGAGATGCC -3'

Sequencing Primer
(F):5'- AGTCTCAGGAAGGCACTGC -3'
(R):5'- TTCAGAGATGCCGGTCTGC -3'
Posted On 2013-11-07