Incidental Mutation 'IGL02455:Kif2c'
ID293784
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 #IGL02455
Quality Score
Status
Chromosome4
Chromosomal Location117159639-117182639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 117172354 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 143 (M143I)
Ref Sequence ENSEMBL: ENSMUSP00000102044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065896] [ENSMUST00000106436] [ENSMUST00000153953]
Predicted Effect probably benign
Transcript: ENSMUST00000065896
AA Change: M194I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: M194I

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: M143I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: M143I

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
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 A G 17: 35,960,129 V479A probably damaging Het
Adam18 T C 8: 24,651,848 D235G probably damaging Het
Cdh22 T C 2: 165,142,255 N359S possibly damaging Het
Cebpz G T 17: 78,935,036 N396K probably benign Het
Celsr3 T A 9: 108,842,893 W2493R probably benign Het
Clca2 C T 3: 145,081,411 V500M probably benign Het
Clec4a4 A C 6: 123,013,780 N160H possibly damaging Het
Crb2 T C 2: 37,794,564 S1139P possibly damaging Het
Dnah8 T C 17: 30,672,334 I771T probably damaging Het
Etfbkmt C T 6: 149,147,226 A121V probably damaging Het
Fat4 T A 3: 38,951,131 L1893Q possibly damaging Het
Fbxw13 A T 9: 109,183,187 S188T probably benign Het
Fign T C 2: 63,980,497 D143G probably benign Het
Foxj3 C A 4: 119,620,237 H381N unknown Het
Gpr158 A T 2: 21,368,700 T149S probably benign Het
Ift74 C T 4: 94,635,831 Q195* probably null Het
Kmt2b A G 7: 30,578,878 probably null Het
Krt84 C T 15: 101,525,735 R599H unknown Het
Ly6g6f C T 17: 35,082,890 R196H possibly damaging Het
Map4 C A 9: 109,999,833 N95K probably benign Het
Mrgprx3-ps T A 7: 47,309,515 noncoding transcript Het
Mroh9 T C 1: 163,075,580 M85V probably benign Het
Npffr2 T C 5: 89,568,135 I107T probably damaging Het
Nrcam T C 12: 44,570,530 V737A probably damaging Het
Olfr1141 A T 2: 87,753,583 S137T possibly damaging Het
Olfr851 C T 9: 19,497,263 Q172* probably null Het
Olfr976 T C 9: 39,956,902 E11G probably damaging Het
Oprm1 A G 10: 6,830,219 T294A probably damaging Het
Parvg A G 15: 84,330,082 R156G possibly damaging Het
Pclo T C 5: 14,540,175 S830P unknown Het
Pde11a T C 2: 76,158,393 D468G possibly damaging Het
Peak1 A T 9: 56,227,473 S195T possibly damaging Het
Pkhd1 A G 1: 20,364,201 Y2338H probably damaging Het
Ppp1r1b A T 11: 98,350,569 I28F probably damaging Het
Prpf8 A G 11: 75,509,258 Y2326C probably benign Het
Psmd1 T A 1: 86,078,580 L223I probably damaging Het
Runx3 T A 4: 135,175,530 Y310N probably damaging Het
Secisbp2l C T 2: 125,773,478 D76N possibly damaging Het
Slfn4 A T 11: 83,186,758 N124I probably damaging Het
Spata13 G A 14: 60,706,714 V519I probably benign Het
Ssh3 C T 19: 4,264,432 E365K probably damaging Het
Strc A G 2: 121,375,791 probably benign Het
Tdp2 T A 13: 24,841,262 I338N probably damaging Het
Vmn1r13 A T 6: 57,210,472 R205S probably damaging Het
Wdr19 G T 5: 65,224,759 A441S probably benign Het
Ylpm1 A G 12: 85,030,263 D796G probably damaging Het
Zbtb11 T C 16: 56,000,675 S712P probably damaging Het
Zcchc14 A G 8: 121,606,270 probably benign Het
Zfp608 T G 18: 54,899,333 S512R probably damaging Het
Other mutations in Kif2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Kif2c APN 4 117178246 missense probably benign 0.01
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
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 On2015-04-16