Incidental Mutation 'IGL03084:Kif2c'
ID417987
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 #IGL03084
Quality Score
Status
Chromosome4
Chromosomal Location117159639-117182639 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 117178158 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 31 (N31S)
Ref Sequence ENSEMBL: ENSMUSP00000122655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065896] [ENSMUST00000106436] [ENSMUST00000153953]
Predicted Effect probably benign
Transcript: ENSMUST00000065896
AA Change: N82S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: N82S

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: N31S

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: N31S

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 possibly damaging
Transcript: ENSMUST00000153953
AA Change: N31S

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
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
Aars G T 8: 111,041,629 V211L probably damaging Het
BC024139 T C 15: 76,119,807 D753G probably benign Het
BC049730 T C 7: 24,714,180 I207T possibly damaging Het
Brpf3 A G 17: 28,835,777 M1098V probably damaging Het
Cachd1 T A 4: 101,003,088 D1285E probably damaging Het
Cacna1b T C 2: 24,609,932 T147A probably benign Het
Cdc14a A G 3: 116,348,452 probably null Het
Chd1 A G 17: 15,770,298 H1704R probably benign Het
Dmkn T G 7: 30,771,056 N367K possibly damaging Het
Fam151b C A 13: 92,468,026 D152Y probably damaging Het
Gabrg3 T C 7: 56,735,064 S250G possibly damaging Het
Gm28042 A G 2: 120,040,505 Q833R probably benign Het
Gm4788 T A 1: 139,781,142 L9F possibly damaging Het
Gnpat A C 8: 124,878,899 Y336S probably damaging Het
Ighv1-54 G A 12: 115,194,116 probably benign Het
Larp1 T A 11: 58,057,095 L939Q probably damaging Het
Lrrc69 G A 4: 14,708,631 P238S probably damaging Het
Lztfl1 C T 9: 123,709,576 G152E probably damaging Het
Man2a2 T C 7: 80,352,943 T1097A possibly damaging Het
Mrvi1 A G 7: 110,885,829 probably benign Het
Myh4 A G 11: 67,251,951 probably null Het
Nab2 C T 10: 127,664,477 V249M probably damaging Het
Nid2 A T 14: 19,768,932 D498V probably benign Het
Nrap T C 19: 56,365,454 T404A probably damaging Het
Olfr1043 A T 2: 86,162,225 C241* probably null Het
Olfr25 T G 9: 38,330,217 I210S probably damaging Het
Olfr368 T C 2: 37,332,401 I218T probably damaging Het
Olfr640 A G 7: 104,021,631 V229A probably benign Het
Pard3 A G 8: 127,593,092 I1104V probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppfia3 A G 7: 45,340,227 V1187A probably benign Het
Ppp1r16b G A 2: 158,761,493 W346* probably null Het
Rpl4 A G 9: 64,178,317 probably benign Het
Scn8a A T 15: 101,017,172 I1206F probably damaging Het
Slc5a2 T C 7: 128,266,604 S61P probably benign Het
Smarcal1 T C 1: 72,598,935 probably null Het
Smyd4 A G 11: 75,390,607 H302R probably benign Het
Sntb1 A G 15: 55,792,091 I243T probably damaging Het
Stx8 C T 11: 68,020,956 Q167* probably null Het
Sycp2 C A 2: 178,391,791 probably benign Het
Ttn A T 2: 76,796,398 V13088D probably damaging Het
Ugt2b1 T A 5: 86,926,384 M39L probably benign Het
Utp6 A T 11: 79,962,216 probably null Het
Vmn1r189 A T 13: 22,101,838 Y276* probably null Het
Vmn2r11 T A 5: 109,059,343 D37V probably benign Het
Vmn2r16 T G 5: 109,330,426 F16V probably damaging Het
Vmn2r65 A T 7: 84,943,146 M538K probably damaging Het
Zfp143 T A 7: 110,069,611 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
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
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 On2016-08-02