Incidental Mutation 'IGL00672:Kif2c'
ID 11626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif2c
Ensembl Gene ENSMUSG00000028678
Gene Name kinesin family member 2C
Synonyms 4930402F02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00672
Quality Score
Status
Chromosome 4
Chromosomal Location 117016830-117039821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117035443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 2 (I2V)
Ref Sequence ENSEMBL: ENSMUSP00000102044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065896] [ENSMUST00000106436] [ENSMUST00000153953]
AlphaFold Q922S8
Predicted Effect probably benign
Transcript: ENSMUST00000065896
AA Change: I53V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: I53V

DomainStartEndE-ValueType
low complexity region 192 205 N/A INTRINSIC
KISc 252 590 1.04e-131 SMART
coiled coil region 615 647 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106436
AA Change: I2V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: I2V

DomainStartEndE-ValueType
low complexity region 141 154 N/A INTRINSIC
KISc 201 539 1.04e-131 SMART
coiled coil region 564 596 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141675
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148918
Predicted Effect probably benign
Transcript: ENSMUST00000153953
AA Change: I2V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,657,736 (GRCm39) probably benign Het
Adamts20 A G 15: 94,238,986 (GRCm39) I744T probably damaging Het
Akap11 G A 14: 78,748,781 (GRCm39) A1202V probably damaging Het
C130032M10Rik A G 9: 114,344,898 (GRCm39) V340A probably damaging Het
Csnk1g1 G T 9: 65,915,028 (GRCm39) S229I probably damaging Het
E130308A19Rik A G 4: 59,719,697 (GRCm39) S410G probably benign Het
Eif2s2 T A 2: 154,729,629 (GRCm39) I98L probably benign Het
En1 T C 1: 120,534,667 (GRCm39) F319L unknown Het
Fmnl3 A T 15: 99,223,562 (GRCm39) Y345N probably damaging Het
Fras1 T C 5: 96,907,309 (GRCm39) probably benign Het
Gm12695 A G 4: 96,637,419 (GRCm39) L366P probably damaging Het
Golga3 T C 5: 110,360,110 (GRCm39) L1156S probably damaging Het
Gpcpd1 G T 2: 132,372,468 (GRCm39) probably benign Het
Hvcn1 C A 5: 122,376,534 (GRCm39) F155L probably benign Het
Jcad T C 18: 4,674,835 (GRCm39) S866P possibly damaging Het
Kdm4c A G 4: 74,261,751 (GRCm39) N642S probably benign Het
Klri2 T A 6: 129,710,034 (GRCm39) I189F probably damaging Het
Lair1 T A 7: 4,031,730 (GRCm39) T126S probably benign Het
Lins1 A T 7: 66,364,279 (GRCm39) K725* probably null Het
Lman2l T A 1: 36,477,915 (GRCm39) probably null Het
Map3k10 T C 7: 27,361,026 (GRCm39) K496E probably damaging Het
Nr2f2 A G 7: 70,007,514 (GRCm39) S170P possibly damaging Het
Polr1b G A 2: 128,967,392 (GRCm39) M928I probably damaging Het
Rffl G A 11: 82,709,310 (GRCm39) P38S probably damaging Het
Rtl1 T C 12: 109,559,434 (GRCm39) S802G probably benign Het
Sema5a A G 15: 32,619,026 (GRCm39) E518G probably benign Het
Smdt1 G A 15: 82,230,384 (GRCm39) V34I possibly damaging Het
Ssr3 C A 3: 65,298,831 (GRCm39) A59S probably benign Het
Stk4 A G 2: 163,959,999 (GRCm39) K59E probably benign Het
Syne2 C T 12: 76,110,958 (GRCm39) T1024M probably damaging Het
Taf5 A T 19: 47,070,740 (GRCm39) D723V probably damaging Het
Tescl T C 7: 24,033,035 (GRCm39) T97A probably benign Het
Thada A T 17: 84,751,646 (GRCm39) S443R probably benign Het
Trp53bp2 A T 1: 182,268,541 (GRCm39) H205L probably benign Het
Ube4b A G 4: 149,465,823 (GRCm39) V209A probably benign Het
Zfp957 G T 14: 79,450,838 (GRCm39) D320E unknown Het
Zfr2 T C 10: 81,077,919 (GRCm39) S249P probably damaging Het
Zmpste24 A G 4: 120,923,057 (GRCm39) I386T probably damaging Het
Other mutations in Kif2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Kif2c APN 4 117,024,101 (GRCm39) missense probably damaging 1.00
IGL01131:Kif2c APN 4 117,029,562 (GRCm39) missense probably damaging 1.00
IGL02131:Kif2c APN 4 117,035,150 (GRCm39) missense possibly damaging 0.88
IGL02455:Kif2c APN 4 117,029,551 (GRCm39) missense probably benign
IGL02556:Kif2c APN 4 117,019,802 (GRCm39) missense probably damaging 0.98
IGL03084:Kif2c APN 4 117,035,355 (GRCm39) missense possibly damaging 0.67
IGL03333:Kif2c APN 4 117,037,833 (GRCm39) missense possibly damaging 0.87
IGL03353:Kif2c APN 4 117,023,533 (GRCm39) missense probably benign 0.19
R0025:Kif2c UTSW 4 117,022,714 (GRCm39) missense probably damaging 1.00
R0466:Kif2c UTSW 4 117,029,489 (GRCm39) missense possibly damaging 0.83
R1069:Kif2c UTSW 4 117,035,350 (GRCm39) missense probably damaging 0.97
R1519:Kif2c UTSW 4 117,027,137 (GRCm39) missense probably damaging 1.00
R1594:Kif2c UTSW 4 117,035,385 (GRCm39) missense probably benign 0.02
R1789:Kif2c UTSW 4 117,024,558 (GRCm39) missense probably benign 0.18
R1894:Kif2c UTSW 4 117,019,420 (GRCm39) missense probably benign 0.02
R2340:Kif2c UTSW 4 117,027,038 (GRCm39) missense probably damaging 1.00
R2830:Kif2c UTSW 4 117,039,645 (GRCm39) splice site probably null
R3734:Kif2c UTSW 4 117,019,843 (GRCm39) missense probably benign 0.02
R4634:Kif2c UTSW 4 117,035,437 (GRCm39) missense probably benign 0.04
R4720:Kif2c UTSW 4 117,028,946 (GRCm39) missense probably benign
R4908:Kif2c UTSW 4 117,023,608 (GRCm39) missense probably damaging 1.00
R5076:Kif2c UTSW 4 117,032,066 (GRCm39) unclassified probably benign
R5855:Kif2c UTSW 4 117,039,739 (GRCm39) unclassified probably benign
R6766:Kif2c UTSW 4 117,024,280 (GRCm39) missense probably benign
R6767:Kif2c UTSW 4 117,035,385 (GRCm39) missense probably benign 0.00
R6942:Kif2c UTSW 4 117,023,575 (GRCm39) missense probably damaging 1.00
R7378:Kif2c UTSW 4 117,019,226 (GRCm39) missense possibly damaging 0.46
R7526:Kif2c UTSW 4 117,039,629 (GRCm39) missense possibly damaging 0.46
R7797:Kif2c UTSW 4 117,028,940 (GRCm39) missense probably benign 0.00
R8087:Kif2c UTSW 4 117,022,615 (GRCm39) missense possibly damaging 0.92
R9123:Kif2c UTSW 4 117,024,291 (GRCm39) missense probably benign 0.09
R9319:Kif2c UTSW 4 117,035,445 (GRCm39) critical splice acceptor site probably null
U24488:Kif2c UTSW 4 117,039,639 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06