Incidental Mutation 'IGL02707:Kifc1'
ID 304414
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kifc1
Ensembl Gene ENSMUSG00000079553
Gene Name kinesin family member C1
Synonyms Tctex7a, Tctex7, HSET, kinesin family c-terminal 5A, Tctex-7, KNSL2, Knsl2a, Tctex-7A, Gm4137, Kifc5a
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02707
Quality Score
Status
Chromosome 17
Chromosomal Location 34094640-34109607 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 34100467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 46 (C46*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114361] [ENSMUST00000173386] [ENSMUST00000173492]
AlphaFold Q9QWT9
Predicted Effect probably damaging
Transcript: ENSMUST00000114361
AA Change: V576E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553
AA Change: V576E

DomainStartEndE-ValueType
low complexity region 65 76 N/A INTRINSIC
Blast:KISc 82 155 2e-12 BLAST
low complexity region 156 179 N/A INTRINSIC
KISc 246 609 1.77e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172608
Predicted Effect probably benign
Transcript: ENSMUST00000173386
SMART Domains Protein: ENSMUSP00000133758
Gene: ENSMUSG00000079553

DomainStartEndE-ValueType
Blast:KISc 67 204 4e-31 BLAST
low complexity region 206 218 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173492
AA Change: V639E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: V639E

DomainStartEndE-ValueType
low complexity region 108 119 N/A INTRINSIC
low complexity region 224 242 N/A INTRINSIC
KISc 309 672 1.77e-143 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173885
Predicted Effect probably null
Transcript: ENSMUST00000173982
AA Change: C46*
SMART Domains Protein: ENSMUSP00000133520
Gene: ENSMUSG00000079553
AA Change: C46*

DomainStartEndE-ValueType
Blast:KISc 2 44 8e-22 BLAST
PDB:2REP|A 2 51 6e-20 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174507
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,165,928 (GRCm39) T149A probably benign Het
4932414N04Rik A C 2: 68,561,474 (GRCm39) Q267P possibly damaging Het
Actr5 T C 2: 158,478,617 (GRCm39) V489A probably benign Het
Adam26b T C 8: 43,972,895 (GRCm39) probably benign Het
Aff4 A G 11: 53,290,567 (GRCm39) N509S probably benign Het
Arhgap22 C T 14: 33,085,229 (GRCm39) probably benign Het
Arhgap9 C A 10: 127,165,476 (GRCm39) H628Q probably damaging Het
Asap1 A T 15: 64,001,123 (GRCm39) I486N probably damaging Het
Asb15 A T 6: 24,558,787 (GRCm39) probably benign Het
Avil A G 10: 126,842,431 (GRCm39) D70G probably damaging Het
Cct6b T C 11: 82,645,780 (GRCm39) probably benign Het
Cep63 A T 9: 102,464,180 (GRCm39) I717K probably damaging Het
Chd4 G T 6: 125,085,730 (GRCm39) A875S probably damaging Het
Col4a4 A T 1: 82,471,237 (GRCm39) M706K unknown Het
Cr1l T C 1: 194,806,019 (GRCm39) T155A probably benign Het
Ctnna3 A G 10: 63,339,844 (GRCm39) N10S probably benign Het
Cubn A G 2: 13,450,843 (GRCm39) V854A probably damaging Het
Dgkh T C 14: 78,823,091 (GRCm39) T845A possibly damaging Het
F10 G A 8: 13,098,252 (GRCm39) A152T probably damaging Het
Gabrg3 C A 7: 56,632,439 (GRCm39) E170* probably null Het
Heatr5a A G 12: 51,968,149 (GRCm39) V829A probably benign Het
Htt T A 5: 34,987,225 (GRCm39) probably null Het
Icam4 T C 9: 20,941,770 (GRCm39) Y257H possibly damaging Het
Jph1 A G 1: 17,074,675 (GRCm39) S448P probably benign Het
Kansl1l G A 1: 66,812,604 (GRCm39) L125F probably damaging Het
Lce3b A G 3: 92,841,193 (GRCm39) D96G unknown Het
Mab21l1 A T 3: 55,690,505 (GRCm39) I31F possibly damaging Het
Mctp2 A G 7: 71,909,089 (GRCm39) Y75H possibly damaging Het
Mesp2 A G 7: 79,461,274 (GRCm39) I200V probably benign Het
Msr1 T C 8: 40,085,870 (GRCm39) probably benign Het
Mtfr2 C T 10: 20,224,084 (GRCm39) T6I probably benign Het
Myo5b T C 18: 74,828,438 (GRCm39) probably benign Het
Myoc T A 1: 162,467,029 (GRCm39) I66N probably benign Het
Or10d1b T C 9: 39,613,937 (GRCm39) I43V probably damaging Het
Or4a70 A T 2: 89,324,171 (GRCm39) Y162N probably damaging Het
Or51k1 A C 7: 103,661,609 (GRCm39) L100W probably damaging Het
Or52n20 T C 7: 104,320,136 (GRCm39) C76R probably damaging Het
Or52n2b A G 7: 104,565,859 (GRCm39) C215R probably damaging Het
Or7a39 T C 10: 78,715,759 (GRCm39) L251S probably damaging Het
Per2 T C 1: 91,378,450 (GRCm39) D33G possibly damaging Het
Pknox1 A G 17: 31,821,793 (GRCm39) I295V possibly damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhot2 A G 17: 26,063,270 (GRCm39) S19P probably damaging Het
Rps6kb1 C A 11: 86,426,236 (GRCm39) probably null Het
Serpinb1b C T 13: 33,275,648 (GRCm39) T194I probably benign Het
Smarcad1 T A 6: 65,029,790 (GRCm39) probably benign Het
Stxbp4 A G 11: 90,428,759 (GRCm39) S449P probably benign Het
Thrb A C 14: 18,026,721 (GRCm38) I275L probably benign Het
Tjp1 T A 7: 64,979,431 (GRCm39) K365* probably null Het
Tjp1 T A 7: 64,979,430 (GRCm39) K365I possibly damaging Het
Tm4sf4 C A 3: 57,333,939 (GRCm39) C75* probably null Het
Tmem131 T C 1: 36,864,560 (GRCm39) T558A probably benign Het
Txndc16 T C 14: 45,399,730 (GRCm39) T408A probably benign Het
Ube2j1 T C 4: 33,038,206 (GRCm39) L38P possibly damaging Het
Urb2 T C 8: 124,757,425 (GRCm39) I1044T probably benign Het
Other mutations in Kifc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0540:Kifc1 UTSW 17 34,105,621 (GRCm39) missense probably damaging 0.98
R0607:Kifc1 UTSW 17 34,105,621 (GRCm39) missense probably damaging 0.98
R1019:Kifc1 UTSW 17 34,103,685 (GRCm39) missense probably benign 0.02
R1218:Kifc1 UTSW 17 34,103,685 (GRCm39) missense probably benign 0.02
R1219:Kifc1 UTSW 17 34,103,685 (GRCm39) missense probably benign 0.02
R1222:Kifc1 UTSW 17 34,103,685 (GRCm39) missense probably benign 0.02
R1374:Kifc1 UTSW 17 34,102,849 (GRCm39) missense probably benign 0.12
R1523:Kifc1 UTSW 17 34,102,636 (GRCm39) missense probably benign 0.23
R1818:Kifc1 UTSW 17 34,103,685 (GRCm39) missense probably benign 0.02
R1958:Kifc1 UTSW 17 34,103,685 (GRCm39) missense probably benign 0.02
R1960:Kifc1 UTSW 17 34,103,561 (GRCm39) critical splice donor site probably null
R5439:Kifc1 UTSW 17 34,105,639 (GRCm39) missense probably damaging 1.00
R5941:Kifc1 UTSW 17 34,102,059 (GRCm39) splice site probably benign
R6643:Kifc1 UTSW 17 34,104,829 (GRCm39) missense probably benign 0.23
R6663:Kifc1 UTSW 17 34,100,430 (GRCm39) unclassified probably benign
R6724:Kifc1 UTSW 17 34,105,707 (GRCm39) splice site probably null
R7033:Kifc1 UTSW 17 34,102,671 (GRCm39) missense probably damaging 1.00
R7498:Kifc1 UTSW 17 34,102,846 (GRCm39) missense probably benign
R7515:Kifc1 UTSW 17 34,103,777 (GRCm39) missense probably damaging 1.00
R7733:Kifc1 UTSW 17 34,102,543 (GRCm39) missense probably damaging 1.00
R7803:Kifc1 UTSW 17 34,103,714 (GRCm39) missense probably benign
R7947:Kifc1 UTSW 17 34,102,849 (GRCm39) missense probably benign 0.12
R8024:Kifc1 UTSW 17 34,102,177 (GRCm39) missense probably damaging 1.00
R8979:Kifc1 UTSW 17 34,102,228 (GRCm39) missense possibly damaging 0.56
R9259:Kifc1 UTSW 17 34,101,165 (GRCm39) missense possibly damaging 0.90
Posted On 2015-04-16