Incidental Mutation 'IGL00672:Kif2c'
ID11626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif2c
Ensembl Gene ENSMUSG00000028678
Gene Namekinesin family member 2C
Synonyms4930402F02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00672
Quality Score
Status
Chromosome4
Chromosomal Location117159639-117182639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117178246 bp
ZygosityHeterozygous
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]
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: 50,746,436 probably benign Het
Adamts20 A G 15: 94,341,105 I744T probably damaging Het
Akap11 G A 14: 78,511,341 A1202V probably damaging Het
C130032M10Rik A G 9: 114,515,830 V340A probably damaging Het
Csnk1g1 G T 9: 66,007,746 S229I probably damaging Het
E130308A19Rik A G 4: 59,719,697 S410G probably benign Het
Eif2s2 T A 2: 154,887,709 I98L probably benign Het
En1 T C 1: 120,606,938 F319L unknown Het
Fmnl3 A T 15: 99,325,681 Y345N probably damaging Het
Fras1 T C 5: 96,759,450 probably benign Het
Gm12695 A G 4: 96,749,182 L366P probably damaging Het
Golga3 T C 5: 110,212,244 L1156S probably damaging Het
Gpcpd1 G T 2: 132,530,548 probably benign Het
Hvcn1 C A 5: 122,238,471 F155L probably benign Het
Jcad T C 18: 4,674,835 S866P possibly damaging Het
Kdm4c A G 4: 74,343,514 N642S probably benign Het
Klri2 T A 6: 129,733,071 I189F probably damaging Het
Lair1 T A 7: 4,028,731 T126S probably benign Het
Lins1 A T 7: 66,714,531 K725* probably null Het
Lman2l T A 1: 36,438,834 probably null Het
Map3k10 T C 7: 27,661,601 K496E probably damaging Het
Nr2f2 A G 7: 70,357,766 S170P possibly damaging Het
Polr1b G A 2: 129,125,472 M928I probably damaging Het
Rffl G A 11: 82,818,484 P38S probably damaging Het
Rtl1 T C 12: 109,593,000 S802G probably benign Het
Sema5a A G 15: 32,618,880 E518G probably benign Het
Smdt1 G A 15: 82,346,183 V34I possibly damaging Het
Ssr3 C A 3: 65,391,410 A59S probably benign Het
Stk4 A G 2: 164,118,079 K59E probably benign Het
Syne2 C T 12: 76,064,184 T1024M probably damaging Het
Taf5 A T 19: 47,082,301 D723V probably damaging Het
Tescl T C 7: 24,333,610 T97A probably benign Het
Thada A T 17: 84,444,218 S443R probably benign Het
Trp53bp2 A T 1: 182,440,976 H205L probably benign Het
Ube4b A G 4: 149,381,366 V209A probably benign Het
Zfp957 G T 14: 79,213,398 D320E unknown Het
Zfr2 T C 10: 81,242,085 S249P probably damaging Het
Zmpste24 A G 4: 121,065,860 I386T probably damaging Het
Other mutations in Kif2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Kif2c APN 4 117166904 missense probably damaging 1.00
IGL01131:Kif2c APN 4 117172365 missense probably damaging 1.00
IGL02131:Kif2c APN 4 117177953 missense possibly damaging 0.88
IGL02455:Kif2c APN 4 117172354 missense probably benign
IGL02556:Kif2c APN 4 117162605 missense probably damaging 0.98
IGL03084:Kif2c APN 4 117178158 missense possibly damaging 0.67
IGL03333:Kif2c APN 4 117180636 missense possibly damaging 0.87
IGL03353:Kif2c APN 4 117166336 missense probably benign 0.19
R0025:Kif2c UTSW 4 117165517 missense probably damaging 1.00
R0466:Kif2c UTSW 4 117172292 missense possibly damaging 0.83
R1069:Kif2c UTSW 4 117178153 missense probably damaging 0.97
R1519:Kif2c UTSW 4 117169940 missense probably damaging 1.00
R1594:Kif2c UTSW 4 117178188 missense probably benign 0.02
R1789:Kif2c UTSW 4 117167361 missense probably benign 0.18
R1894:Kif2c UTSW 4 117162223 missense probably benign 0.02
R2340:Kif2c UTSW 4 117169841 missense probably damaging 1.00
R2830:Kif2c UTSW 4 117182448 splice site probably null
R3734:Kif2c UTSW 4 117162646 missense probably benign 0.02
R4634:Kif2c UTSW 4 117178240 missense probably benign 0.04
R4720:Kif2c UTSW 4 117171749 missense probably benign
R4908:Kif2c UTSW 4 117166411 missense probably damaging 1.00
R5076:Kif2c UTSW 4 117174869 unclassified probably benign
R5855:Kif2c UTSW 4 117182542 unclassified probably benign
R6766:Kif2c UTSW 4 117167083 missense probably benign
R6767:Kif2c UTSW 4 117178188 missense probably benign 0.00
R6942:Kif2c UTSW 4 117166378 missense probably damaging 1.00
R7378:Kif2c UTSW 4 117162029 missense possibly damaging 0.46
R7526:Kif2c UTSW 4 117182432 missense possibly damaging 0.46
R7797:Kif2c UTSW 4 117171743 missense probably benign 0.00
R8087:Kif2c UTSW 4 117165418 missense possibly damaging 0.92
U24488:Kif2c UTSW 4 117182442 missense probably benign 0.00
Posted On2012-12-06