Incidental Mutation 'R1218:Kifc1'
ID 99873
Institutional Source Beutler Lab
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
MMRRC Submission 039287-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1218 (G1)
Quality Score 135
Status Not validated
Chromosome 17
Chromosomal Location 34094640-34109607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34103685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 195 (R195C)
Ref Sequence ENSEMBL: ENSMUSP00000133758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114361] [ENSMUST00000173386] [ENSMUST00000173492]
AlphaFold Q9QWT9
Predicted Effect probably benign
Transcript: ENSMUST00000114361
SMART Domains Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553

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
AA Change: R195C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000133758
Gene: ENSMUSG00000079553
AA Change: R195C

DomainStartEndE-ValueType
Blast:KISc 67 204 4e-31 BLAST
low complexity region 206 218 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173492
AA Change: R213C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: R213C

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 benign
Transcript: ENSMUST00000173982
SMART Domains Protein: ENSMUSP00000133520
Gene: ENSMUSG00000079553

DomainStartEndE-ValueType
Blast:KISc 2 44 8e-22 BLAST
PDB:2REP|A 2 51 6e-20 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174507
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185129
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 97.9%
  • 10x: 93.3%
  • 20x: 80.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C T 15: 81,948,353 (GRCm39) T750I probably benign Het
5330417H12Rik T C 7: 107,224,024 (GRCm39) probably benign Het
9230109A22Rik C T 15: 25,139,024 (GRCm39) noncoding transcript Het
Ahnak A G 19: 8,992,983 (GRCm39) K4756E probably damaging Het
Ano5 A T 7: 51,220,169 (GRCm39) probably null Het
Bmp6 ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 13: 38,530,226 (GRCm39) probably benign Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Cbfa2t2 A T 2: 154,365,839 (GRCm39) M350L probably benign Het
Ceacam20 A T 7: 19,710,022 (GRCm39) M349L probably benign Het
Cfap91 A G 16: 38,118,495 (GRCm39) V768A probably benign Het
Chd1 G T 17: 15,945,574 (GRCm39) G33C probably damaging Het
Dhx40 A G 11: 86,690,310 (GRCm39) V237A probably benign Het
Dlst G T 12: 85,170,638 (GRCm39) D256Y probably damaging Het
Dmxl1 T A 18: 50,026,678 (GRCm39) S1929T probably damaging Het
Exosc10 T A 4: 148,654,858 (GRCm39) I551N probably damaging Het
Faap100 T C 11: 120,269,166 (GRCm39) D91G probably benign Het
Fbn1 T G 2: 125,254,669 (GRCm39) Q198P possibly damaging Het
Flrt2 A G 12: 95,745,727 (GRCm39) I22V probably benign Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
H2bc3 A G 13: 23,931,142 (GRCm39) Y122C probably benign Het
Inava A T 1: 136,142,140 (GRCm39) V653E probably damaging Het
Kcnn1 T C 8: 71,305,332 (GRCm39) I293V probably benign Het
Mcpt9 G T 14: 56,266,125 (GRCm39) Y34* probably null Het
Mepe A T 5: 104,474,939 (GRCm39) M7L probably benign Het
Mprip A G 11: 59,634,640 (GRCm39) Y383C probably damaging Het
Mtrex G A 13: 113,054,156 (GRCm39) A159V probably damaging Het
Myh2 A T 11: 67,083,351 (GRCm39) D1438V probably damaging Het
Napb T C 2: 148,542,345 (GRCm39) Y205C probably damaging Het
Odf2l A G 3: 144,854,693 (GRCm39) D510G probably damaging Het
Olfml2b A G 1: 170,477,351 (GRCm39) D162G probably damaging Het
Oscp1 T C 4: 125,952,532 (GRCm39) V20A probably benign Het
Pcdhb10 T C 18: 37,546,214 (GRCm39) L430P probably damaging Het
Polq A G 16: 36,849,808 (GRCm39) D354G possibly damaging Het
Rims1 C A 1: 22,522,256 (GRCm39) V481F probably damaging Het
Ryr1 A G 7: 28,785,534 (GRCm39) I1719T possibly damaging Het
Smtn T C 11: 3,480,021 (GRCm39) H400R probably benign Het
Snx33 A G 9: 56,833,269 (GRCm39) Y267H probably damaging Het
Sstr1 T A 12: 58,260,406 (GRCm39) M343K possibly damaging Het
Stx6 T C 1: 155,077,737 (GRCm39) V248A probably benign Het
Tbx5 C T 5: 119,976,785 (GRCm39) L58F probably damaging Het
Tmem241 A G 18: 12,197,271 (GRCm39) Y186H probably damaging Het
Tnfaip8l3 T C 9: 53,934,760 (GRCm39) K72E probably damaging Het
Trrap T A 5: 144,753,219 (GRCm39) I1848N probably damaging Het
Xrcc6 G A 15: 81,907,142 (GRCm39) V155I probably benign Het
Zfp458 T C 13: 67,404,273 (GRCm39) E722G probably damaging Het
Zfyve1 G T 12: 83,594,825 (GRCm39) H722Q possibly damaging Het
Other mutations in Kifc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02707:Kifc1 APN 17 34,100,467 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- GGAAGCTCTCTCAGAGCAACACTAAG -3'
(R):5'- ACTCAAACGCTGGAACTGGAGAAC -3'

Sequencing Primer
(F):5'- TCTTCCCAAGTGCCTGAGAG -3'
(R):5'- ACTGGAGAACCGGGGTC -3'
Posted On 2014-01-15