Incidental Mutation 'R7498:Kifc1'
ID 581242
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 045571-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7498 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 34094640-34109607 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34102846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 256 (F256L)
Ref Sequence ENSEMBL: ENSMUSP00000134572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114361] [ENSMUST00000173386] [ENSMUST00000173492]
AlphaFold Q9QWT9
Predicted Effect probably benign
Transcript: ENSMUST00000114361
AA Change: F193L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553
AA Change: F193L

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 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 benign
Transcript: ENSMUST00000173492
AA Change: F256L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: F256L

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 99% (75/76)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik G A 2: 68,498,012 (GRCm39) E148K unknown Het
Adgrl2 T A 3: 148,564,852 (GRCm39) K243* probably null Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Ahnak A T 19: 8,989,383 (GRCm39) I3556F probably benign Het
Akap6 C T 12: 53,189,488 (GRCm39) R2301* probably null Het
Alg6 A G 4: 99,636,933 (GRCm39) T305A probably damaging Het
Alpk1 C T 3: 127,473,427 (GRCm39) A859T probably benign Het
Apba3 T A 10: 81,104,735 (GRCm39) F3I possibly damaging Het
Birc6 A G 17: 74,967,465 (GRCm39) E4151G probably damaging Het
Bmp2k T A 5: 97,235,978 (GRCm39) F1134I probably benign Het
C6 A T 15: 4,792,846 (GRCm39) H317L probably damaging Het
Catsperg2 G A 7: 29,416,527 (GRCm39) S295L possibly damaging Het
Ccdc142 G T 6: 83,080,212 (GRCm39) R385L possibly damaging Het
Ciz1 A T 2: 32,261,761 (GRCm39) M482L probably benign Het
Crisp3 A G 17: 40,536,693 (GRCm39) probably null Het
Dcaf15 G A 8: 84,828,392 (GRCm39) P233S probably damaging Het
Def8 A G 8: 124,174,583 (GRCm39) N16S probably damaging Het
Dnah7b T G 1: 46,364,925 (GRCm39) S3569A probably damaging Het
Dok6 C T 18: 89,787,443 (GRCm39) probably benign Het
Dop1a A T 9: 86,376,464 (GRCm39) T233S possibly damaging Het
Ep300 T A 15: 81,524,044 (GRCm39) V1325D unknown Het
Fancm T A 12: 65,146,165 (GRCm39) H629Q probably benign Het
Fbxo10 T C 4: 45,062,194 (GRCm39) S111G probably benign Het
Fbxo21 T C 5: 118,140,239 (GRCm39) probably null Het
Fdx1 A C 9: 51,859,898 (GRCm39) L144R probably damaging Het
Fgfr3 GGACCTCTCCGTG GG 5: 33,892,766 (GRCm39) probably null Het
Flot2 G A 11: 77,944,188 (GRCm39) probably null Het
Fndc10 C T 4: 155,779,195 (GRCm39) R80C probably damaging Het
Fut8 A T 12: 77,459,708 (GRCm39) T274S probably benign Het
Gli2 T C 1: 118,763,565 (GRCm39) M1529V possibly damaging Het
Gm7361 C A 5: 26,466,188 (GRCm39) H183Q probably benign Het
Hdlbp T A 1: 93,341,337 (GRCm39) H1007L probably benign Het
Hmcn2 A C 2: 31,273,487 (GRCm39) probably null Het
Inhbb C T 1: 119,345,608 (GRCm39) R227H probably damaging Het
Lman2 A T 13: 55,494,790 (GRCm39) F326Y probably damaging Het
Mcmdc2 T C 1: 9,989,302 (GRCm39) V242A probably benign Het
Mettl8 A C 2: 70,795,969 (GRCm39) V306G probably damaging Het
Mog A T 17: 37,322,984 (GRCm39) probably null Het
Morc2b G A 17: 33,356,833 (GRCm39) A313V possibly damaging Het
Myh3 A G 11: 66,987,874 (GRCm39) N1449S possibly damaging Het
Myh8 C A 11: 67,174,263 (GRCm39) T200K possibly damaging Het
Myo16 T A 8: 10,450,589 (GRCm39) H530Q unknown Het
Neb C T 2: 52,148,188 (GRCm39) R2686H probably damaging Het
Nudt2 T C 4: 41,480,539 (GRCm39) F141L possibly damaging Het
Obscn G A 11: 58,973,539 (GRCm39) H1931Y probably damaging Het
Odad3 A G 9: 21,913,553 (GRCm39) I73T probably damaging Het
Or10al5 A G 17: 38,063,242 (GRCm39) T166A probably damaging Het
Or2d4 A T 7: 106,543,575 (GRCm39) V211D possibly damaging Het
Or5p80 T A 7: 108,229,623 (GRCm39) C141* probably null Het
Plcb1 T A 2: 135,104,153 (GRCm39) L274* probably null Het
Plcb1 G T 2: 135,104,154 (GRCm39) L274F probably damaging Het
Potefam3d A C 8: 69,972,475 (GRCm39) Y91* probably null Het
Prc1 C T 7: 79,962,898 (GRCm39) T564M possibly damaging Het
Psd4 G A 2: 24,296,996 (GRCm39) R923Q probably damaging Het
Ptprj G A 2: 90,266,909 (GRCm39) Q1300* probably null Het
Rapgef6 G T 11: 54,510,830 (GRCm39) R249L probably damaging Het
Slain1 G A 14: 103,893,429 (GRCm39) probably null Het
Slfn9 A T 11: 82,873,013 (GRCm39) I630N probably damaging Het
Smg6 G A 11: 74,819,932 (GRCm39) A68T probably benign Het
Spata31h1 T A 10: 82,127,113 (GRCm39) T1966S probably benign Het
Spef2 T A 15: 9,727,625 (GRCm39) M153L probably benign Het
St8sia4 T A 1: 95,519,418 (GRCm39) M357L probably benign Het
Tal1 A T 4: 114,925,879 (GRCm39) H316L possibly damaging Het
Tenm4 A G 7: 96,497,224 (GRCm39) E1207G probably damaging Het
Tmem64 C A 4: 15,266,176 (GRCm39) H75Q probably benign Het
Tor4a A G 2: 25,085,804 (GRCm39) V33A probably benign Het
Traj52 C T 14: 54,402,818 (GRCm39) T15I Het
Trim50 G A 5: 135,392,768 (GRCm39) V228M probably benign Het
Trpm1 A T 7: 63,858,657 (GRCm39) I360F possibly damaging Het
Trpm6 A T 19: 18,853,484 (GRCm39) R1835W probably damaging Het
Ubn1 T C 16: 4,894,969 (GRCm39) S672P probably damaging Het
Ugt2a2 C T 5: 87,622,500 (GRCm39) C156Y probably damaging Het
Wnk1 T C 6: 119,904,157 (GRCm39) S2223G unknown Het
Wnt7b G T 15: 85,427,880 (GRCm39) A194E probably damaging Het
Zmpste24 A G 4: 120,940,028 (GRCm39) V206A probably benign 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
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
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'- GATATTGCCCTTCAGTTCCTGCAG -3'
(R):5'- GGATTGCTGAAGCTCACTCC -3'

Sequencing Primer
(F):5'- CAGTTCCTGCAGCTGGTTG -3'
(R):5'- GATCCTCAGCTCTGGGATTACAAG -3'
Posted On 2019-10-17