Incidental Mutation 'R1523:Kifc1'
ID167675
Institutional Source Beutler Lab
Gene Symbol Kifc1
Ensembl Gene ENSMUSG00000079553
Gene Namekinesin family member C1
Synonymskinesin family c-terminal 5A, Knsl2a, Tctex-7, KNSL2, Kifc5a, Gm4137, Tctex7a, Tctex7, HSET, Tctex-7A
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1523 (G1)
Quality Score225
Status Not validated
Chromosome17
Chromosomal Location33875666-33890661 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 33883662 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 263 (S263T)
Ref Sequence ENSEMBL: ENSMUSP00000110001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114361] [ENSMUST00000173386] [ENSMUST00000173492]
Predicted Effect probably benign
Transcript: ENSMUST00000114361
AA Change: S263T

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110001
Gene: ENSMUSG00000079553
AA Change: S263T

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 benign
Transcript: ENSMUST00000173492
AA Change: S326T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000134572
Gene: ENSMUSG00000079553
AA Change: S326T

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: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik G T 11: 83,440,406 E48* probably null Het
4930503B20Rik A G 3: 146,651,109 S15P probably damaging Het
4933402E13Rik T A X: 62,290,906 D177E probably benign Het
5530400C23Rik A G 6: 133,294,293 E100G possibly damaging Het
Abcg2 T C 6: 58,685,694 F507S possibly damaging Het
Adgrf5 A T 17: 43,450,153 Q913L probably benign Het
Ak7 A T 12: 105,766,608 N537I probably benign Het
Anks1 T A 17: 28,051,655 probably null Het
Arhgap32 T A 9: 32,256,752 V677D probably damaging Het
Arnt C T 3: 95,489,654 P466L possibly damaging Het
Arrb1 T G 7: 99,594,665 L274R probably damaging Het
Atf2 A T 2: 73,863,208 D3E probably damaging Het
Baz2b C T 2: 59,968,637 R381Q possibly damaging Het
Cacna1g C T 11: 94,442,729 probably null Het
Ccr10 C T 11: 101,173,675 R343Q probably damaging Het
Clca2 G T 3: 145,071,644 S822* probably null Het
Col12a1 A T 9: 79,660,996 Y1649N probably benign Het
Col23a1 G A 11: 51,561,916 probably null Het
Cp T C 3: 19,989,065 Y1006H probably benign Het
Ctbs A G 3: 146,454,980 T101A probably benign Het
Cyp4a31 T C 4: 115,569,754 F170L probably benign Het
Dock1 A C 7: 134,744,247 I173L possibly damaging Het
Dock4 A G 12: 40,693,025 D393G possibly damaging Het
Dsg1a T A 18: 20,322,317 S113T probably damaging Het
Epha3 T C 16: 63,610,948 D530G probably damaging Het
Erbb4 T A 1: 68,396,252 H162L possibly damaging Het
Fam131c C T 4: 141,382,831 T180I probably benign Het
Fndc1 A G 17: 7,773,209 S552P unknown Het
Foxf1 A G 8: 121,084,558 probably null Het
Frem2 T C 3: 53,655,407 T560A possibly damaging Het
Gabra4 G A 5: 71,633,632 T289M probably damaging Het
Gcnt1 A G 19: 17,329,833 V176A probably damaging Het
Gemin8 G A X: 166,180,648 S100N probably benign Het
Gm1527 T C 3: 28,920,418 I460T probably damaging Het
Gm6729 A G 10: 86,540,175 noncoding transcript Het
Gprin2 T C 14: 34,195,079 S245G probably benign Het
Gsdmc A T 15: 63,803,630 I112N probably damaging Het
Hspb6 A G 7: 30,553,423 D30G probably benign Het
Hydin A G 8: 110,533,271 D2625G probably benign Het
Iqca C A 1: 90,142,731 G133V probably null Het
Irf2 T A 8: 46,837,840 probably null Het
Kdm3b T C 18: 34,793,173 probably null Het
Khdc3 G A 9: 73,103,491 E208K possibly damaging Het
Lrig3 C A 10: 126,008,698 T677K probably damaging Het
Mapkapk3 A T 9: 107,263,623 probably null Het
Mertk T C 2: 128,790,328 probably null Het
Metrn A G 17: 25,794,977 *292R probably null Het
Mllt6 G T 11: 97,665,023 A60S probably damaging Het
Mmp21 T C 7: 133,679,045 I65M probably benign Het
Myo7b A G 18: 31,966,876 L1651P probably damaging Het
Nhsl1 A G 10: 18,408,355 S15G probably benign Het
Nos1ap T C 1: 170,338,118 D192G probably benign Het
Nrcam A G 12: 44,572,249 T844A probably damaging Het
Pax4 A G 6: 28,444,841 L203P probably damaging Het
Pbld2 T C 10: 63,076,433 I280T probably benign Het
Pclo A G 5: 14,788,406 Y4681C unknown Het
Phyhip T A 14: 70,461,760 M1K probably null Het
Plppr4 T C 3: 117,322,841 N456D probably damaging Het
Prpf31 T C 7: 3,640,857 Y473H probably damaging Het
Rapgef2 A T 3: 79,092,749 V564D probably damaging Het
Rexo1 T C 10: 80,542,751 S1123G probably benign Het
Rnasel C A 1: 153,756,013 Q513K probably damaging Het
Rnf165 G A 18: 77,462,938 T98I probably benign Het
Rnf213 T C 11: 119,441,888 V2641A probably damaging Het
Rnf40 G T 7: 127,590,615 R184L probably damaging Het
Rnf8 A G 17: 29,626,972 K179R probably damaging Het
Sipa1l2 C T 8: 125,447,613 D1309N possibly damaging Het
Slc25a38 T A 9: 120,123,703 M307K possibly damaging Het
Snx33 T C 9: 56,926,182 D201G possibly damaging Het
Sulf1 T A 1: 12,817,350 Y249* probably null Het
Sult2a4 G A 7: 13,909,860 Q261* probably null Het
Syndig1 G A 2: 150,003,234 A226T probably damaging Het
Tcaf2 C T 6: 42,624,451 W891* probably null Het
Tcf15 C A 2: 152,143,888 T88K probably damaging Het
Tmem19 A T 10: 115,347,217 M117K probably damaging Het
Trim32 T C 4: 65,614,004 L266P probably benign Het
Vmn2r11 T C 5: 109,053,841 I266V probably benign Het
Vmn2r73 A T 7: 85,870,278 Y491N probably benign Het
Wrn C T 8: 33,292,716 E486K probably benign Het
Zfp457 T C 13: 67,293,437 E262G probably damaging Het
Zfp598 A G 17: 24,678,629 D308G probably null Het
Zufsp T C 10: 33,927,440 I549M probably damaging Het
Other mutations in Kifc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02707:Kifc1 APN 17 33881493 nonsense probably null
R0540:Kifc1 UTSW 17 33886647 missense probably damaging 0.98
R0607:Kifc1 UTSW 17 33886647 missense probably damaging 0.98
R1019:Kifc1 UTSW 17 33884711 missense probably benign 0.02
R1218:Kifc1 UTSW 17 33884711 missense probably benign 0.02
R1219:Kifc1 UTSW 17 33884711 missense probably benign 0.02
R1222:Kifc1 UTSW 17 33884711 missense probably benign 0.02
R1374:Kifc1 UTSW 17 33883875 missense probably benign 0.12
R1818:Kifc1 UTSW 17 33884711 missense probably benign 0.02
R1958:Kifc1 UTSW 17 33884711 missense probably benign 0.02
R1960:Kifc1 UTSW 17 33884587 critical splice donor site probably null
R5439:Kifc1 UTSW 17 33886665 missense probably damaging 1.00
R5941:Kifc1 UTSW 17 33883085 splice site probably benign
R6643:Kifc1 UTSW 17 33885855 missense probably benign 0.23
R6663:Kifc1 UTSW 17 33881456 unclassified probably benign
R6724:Kifc1 UTSW 17 33886733 intron probably null
R7033:Kifc1 UTSW 17 33883697 missense probably damaging 1.00
R7498:Kifc1 UTSW 17 33883872 missense probably benign
R7515:Kifc1 UTSW 17 33884803 missense probably damaging 1.00
R7733:Kifc1 UTSW 17 33883569 missense probably damaging 1.00
R7803:Kifc1 UTSW 17 33884740 missense probably benign
R8024:Kifc1 UTSW 17 33883203 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACAAGCATGGCGATCTCCTCAAAC -3'
(R):5'- AAGCAGCTCTGTCAAGCAGCCAAG -3'

Sequencing Primer
(F):5'- GGCGATCTCCTCAAACACTTC -3'
(R):5'- TCTGTCAAGCAGCCAAGAAGAG -3'
Posted On2014-04-13