Incidental Mutation 'R7852:Kif12'
ID 606977
Institutional Source Beutler Lab
Gene Symbol Kif12
Ensembl Gene ENSMUSG00000028357
Gene Name kinesin family member 12
Synonyms N-9 kinesin
MMRRC Submission 045905-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.252) question?
Stock # R7852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 63083867-63090368 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 63086226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 374 (P374A)
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: P374A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: P374A

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: P374A

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGT GTGTTTGT 11: 43,478,253 (GRCm39) probably null Het
Aco1 A G 4: 40,180,263 (GRCm39) D388G probably benign Het
Adgrl1 T G 8: 84,662,187 (GRCm39) L1016R probably damaging Het
Agmo C T 12: 37,292,051 (GRCm39) P4L possibly damaging Het
Agrn A T 4: 156,253,514 (GRCm39) H1792Q probably benign Het
Arhgef40 C T 14: 52,229,254 (GRCm39) L615F unknown Het
Atp6v1b1 A T 6: 83,729,452 (GRCm39) M121L possibly damaging Het
Cd38 C A 5: 44,058,790 (GRCm39) L135M probably damaging Het
Cep152 A T 2: 125,432,033 (GRCm39) N622K possibly damaging Het
Cfhr1 A C 1: 139,484,165 (GRCm39) V117G probably damaging Het
Dnajb1 T A 8: 84,336,834 (GRCm39) D201E probably benign Het
Dpysl2 T C 14: 67,100,092 (GRCm39) N48S probably benign Het
Dsc2 A G 18: 20,179,342 (GRCm39) I242T possibly damaging Het
Eif1ad10 A C 12: 88,216,588 (GRCm39) Y95D probably damaging Het
Eif1ad3 G A 12: 87,843,742 (GRCm39) V130M unknown Het
Fam193a C A 5: 34,568,161 (GRCm39) D153E probably benign Het
Flnc G T 6: 29,440,897 (GRCm39) D332Y probably damaging Het
Fstl5 A G 3: 76,615,275 (GRCm39) I779V probably benign Het
Gm29394 T C 15: 57,912,172 (GRCm39) I11V unknown Het
Gm36864 ATCAGAAGTTTC ATC 7: 43,886,361 (GRCm39) probably benign Het
Gnpnat1 G A 14: 45,622,110 (GRCm39) P28S probably damaging Het
Grk5 T C 19: 61,069,383 (GRCm39) probably null Het
Gys2 A T 6: 142,376,059 (GRCm39) F534L probably damaging Het
Igdcc4 G A 9: 65,027,540 (GRCm39) V201I probably benign Het
Khdc4 T A 3: 88,604,043 (GRCm39) S287T probably benign Het
Krt16 A T 11: 100,137,592 (GRCm39) I371N probably damaging Het
Lrfn2 G A 17: 49,376,972 (GRCm39) V18I possibly damaging Het
Masp2 G A 4: 148,687,189 (GRCm39) E24K probably benign Het
Mdga2 T C 12: 66,517,724 (GRCm39) N37D possibly damaging Het
Med12l T A 3: 59,155,332 (GRCm39) F1171I probably damaging Het
Med22 A T 2: 26,800,376 (GRCm39) Y18N probably damaging Het
Mfsd4b1 T C 10: 39,879,411 (GRCm39) N162S probably benign Het
Micu2 A T 14: 58,169,710 (GRCm39) N213K probably benign Het
Mpc1 C T 17: 8,515,740 (GRCm39) T86I probably damaging Het
Mto1 G T 9: 78,356,820 (GRCm39) V112L possibly damaging Het
Napepld C T 5: 21,888,171 (GRCm39) V93I probably benign Het
Nkx2-2 A T 2: 147,026,189 (GRCm39) M183K probably damaging Het
Nlrp10 A G 7: 108,524,281 (GRCm39) S400P probably damaging Het
Nynrin T C 14: 56,108,886 (GRCm39) L1331P probably damaging Het
Ofcc1 T A 13: 40,333,915 (GRCm39) D392V probably damaging Het
Or10q12 A G 19: 13,745,874 (GRCm39) H56R probably benign Het
Or11a4 T C 17: 37,536,163 (GRCm39) V49A probably benign Het
Or2ag16 A T 7: 106,351,845 (GRCm39) M250K probably damaging Het
Or6c38 T A 10: 128,929,385 (GRCm39) I153F probably benign Het
Patl2 C T 2: 122,009,590 (GRCm39) probably benign Het
Pde8b T G 13: 95,244,205 (GRCm39) D78A probably damaging Het
Pgls T A 8: 72,047,847 (GRCm39) probably null Het
Pik3c2a A G 7: 116,016,693 (GRCm39) S355P probably benign Het
Pole G A 5: 110,454,695 (GRCm39) R976Q probably damaging Het
Ppip5k2 A G 1: 97,668,896 (GRCm39) L511S probably damaging Het
Prcp A T 7: 92,577,900 (GRCm39) N390Y probably benign Het
Rpgrip1 T A 14: 52,383,337 (GRCm39) N752K probably benign Het
Rsl1d1 A G 16: 11,021,098 (GRCm39) S8P probably benign Het
S100a1 C A 3: 90,419,392 (GRCm39) A18S probably benign Het
Slc25a13 A G 6: 6,152,461 (GRCm39) F92S probably damaging Het
Slc35f3 T C 8: 127,121,219 (GRCm39) I360T probably damaging Het
Slc35f6 T C 5: 30,814,159 (GRCm39) Y202H possibly damaging Het
Sox6 A T 7: 115,400,839 (GRCm39) M1K probably null Het
Stx8 G A 11: 67,860,611 (GRCm39) D11N probably damaging Het
Vmn2r130 A G 17: 23,282,788 (GRCm39) N156S probably benign Het
Vmn2r52 T C 7: 9,892,895 (GRCm39) Y748C probably damaging Het
Vmn2r78 T A 7: 86,569,378 (GRCm39) Y90* probably null Het
Zc3h4 A G 7: 16,156,392 (GRCm39) S303G unknown 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
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'- GCAGCATCCCATAGAGGTTTC -3'
(R):5'- CAGTAAAGACGAGGTATGACCC -3'

Sequencing Primer
(F):5'- AGGTTTCTCTGGGCCCAG -3'
(R):5'- AGGTATGACCCAGGCCAG -3'
Posted On 2019-12-20