Incidental Mutation 'IGL01131:Kif2c'
ID50957
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 #IGL01131
Quality Score
Status
Chromosome4
Chromosomal Location117159639-117182639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 117172365 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 140 (V140M)
Ref Sequence ENSEMBL: ENSMUSP00000102044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065896] [ENSMUST00000106436] [ENSMUST00000153953]
Predicted Effect probably damaging
Transcript: ENSMUST00000065896
AA Change: V191M

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: V191M

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 damaging
Transcript: ENSMUST00000106436
AA Change: V140M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: V140M

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrf5 G T 17: 43,422,509 D75Y possibly damaging Het
Cfap20 T C 8: 95,424,659 D18G probably damaging Het
Cpne3 T C 4: 19,543,318 D160G probably damaging Het
Ercc3 A G 18: 32,269,889 *784W probably null Het
Fam53b T C 7: 132,715,782 E377G probably damaging Het
Far2 T C 6: 148,150,598 V125A possibly damaging Het
Fasn T C 11: 120,814,619 E1192G probably benign Het
Irf5 A G 6: 29,536,103 E372G probably damaging Het
Klre1 T C 6: 129,584,170 F165L possibly damaging Het
Kmt2a C T 9: 44,821,170 probably benign Het
Lrp2 C T 2: 69,499,239 C1728Y probably damaging Het
Muc4 C A 16: 32,753,901 T1259N possibly damaging Het
Nlrp9b A G 7: 20,023,537 D233G probably damaging Het
Nuf2 T C 1: 169,522,364 probably benign Het
Nynrin A G 14: 55,872,685 K1750E probably damaging Het
Olfr1463 A G 19: 13,234,739 D163G probably benign Het
Parp4 C A 14: 56,585,760 probably benign Het
Rbms1 T C 2: 60,758,836 M287V probably benign Het
Rhox3c G A X: 37,470,329 R71K probably damaging Het
Rufy1 A G 11: 50,392,023 L638P probably damaging Het
Slc15a3 G A 19: 10,857,622 probably benign Het
Slc26a9 T C 1: 131,755,542 probably null Het
Slc6a13 A G 6: 121,321,641 Y150C probably damaging Het
Slitrk6 A T 14: 110,751,576 L233Q probably damaging Het
Ugt3a2 T A 15: 9,365,162 I287N probably damaging Het
Unc13c T C 9: 73,564,053 N1778S probably benign Het
Vmn1r212 T C 13: 22,883,159 N335D unknown Het
Wdfy1 C T 1: 79,713,872 V273I probably benign 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
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 On2013-06-21