Incidental Mutation 'R5543:Kifc2'
ID436122
Institutional Source Beutler Lab
Gene Symbol Kifc2
Ensembl Gene ENSMUSG00000004187
Gene Namekinesin family member C2
Synonyms
MMRRC Submission 043101-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5543 (G1)
Quality Score180
Status Not validated
Chromosome15
Chromosomal Location76659858-76668196 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76667042 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 679 (R679G)
Ref Sequence ENSEMBL: ENSMUSP00000004294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000037551] [ENSMUST00000037824] [ENSMUST00000135388] [ENSMUST00000230451] [ENSMUST00000230964]
Predicted Effect probably damaging
Transcript: ENSMUST00000004294
AA Change: R679G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: R679G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 36 45 N/A INTRINSIC
low complexity region 117 129 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
coiled coil region 195 235 N/A INTRINSIC
coiled coil region 274 345 N/A INTRINSIC
KISc 407 740 3.21e-141 SMART
low complexity region 745 781 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037551
SMART Domains Protein: ENSMUSP00000037356
Gene: ENSMUSG00000033819

DomainStartEndE-ValueType
ANK 70 99 2.5e3 SMART
ANK 103 132 3.41e-3 SMART
ANK 136 165 2.66e-5 SMART
ANK 231 260 2.58e-3 SMART
ANK 264 293 4.03e-5 SMART
low complexity region 323 346 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037824
SMART Domains Protein: ENSMUSP00000036591
Gene: ENSMUSG00000033837

DomainStartEndE-ValueType
FH 62 152 2.71e-34 SMART
low complexity region 183 194 N/A INTRINSIC
low complexity region 331 345 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135388
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230207
Predicted Effect probably damaging
Transcript: ENSMUST00000230451
AA Change: R594G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000230964
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no apparent defects in development or behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik C A 7: 128,237,181 S80I probably benign Het
Aak1 T C 6: 86,982,645 probably null Het
Abcc6 A G 7: 45,989,536 probably null Het
Acvr1 A G 2: 58,463,145 S268P probably damaging Het
Apod T C 16: 31,303,533 probably null Het
Atp5o T C 16: 91,926,530 I58V probably benign Het
AU040320 C T 4: 126,841,224 T777M probably damaging Het
BC067074 C A 13: 113,320,873 T1151K probably damaging Het
Ccne2 A T 4: 11,194,026 N89I probably benign Het
Dnah7a A G 1: 53,504,069 V2314A probably damaging Het
Dopey2 T C 16: 93,798,920 S1881P probably damaging Het
E4f1 A G 17: 24,447,362 V24A possibly damaging Het
Esrrg A T 1: 188,150,254 D236V probably damaging Het
Fam240b T A 13: 64,485,922 I27F possibly damaging Het
Fat1 T A 8: 45,023,479 I1854N probably damaging Het
Fchsd2 T C 7: 101,271,699 Y480H probably damaging Het
Fras1 A G 5: 96,528,535 N47S probably benign Het
Gabrr3 T C 16: 59,433,507 S196P probably damaging Het
Gbp8 T A 5: 105,017,830 D319V possibly damaging Het
Hrh3 G T 2: 180,103,970 A61E probably damaging Het
Idua T C 5: 108,670,229 I89T probably benign Het
Ifitm3 T A 7: 141,009,817 I108F unknown Het
Izumo4 T C 10: 80,702,834 F40S probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Ldha A T 7: 46,850,890 I171F possibly damaging Het
Lrfn4 T C 19: 4,612,163 S609G probably benign Het
Mmp15 T C 8: 95,368,101 F201S possibly damaging Het
Myof C T 19: 37,981,330 V295I probably benign Het
Olfr1024 G T 2: 85,904,328 A242D probably damaging Het
Olfr30 T A 11: 58,455,167 M261L probably damaging Het
Olfr354 C T 2: 36,907,357 T137I possibly damaging Het
Parp14 T C 16: 35,834,767 D1778G probably benign Het
Pcnt A T 10: 76,412,052 D969E probably benign Het
Pibf1 A T 14: 99,112,992 N192I probably benign Het
Pitpnm3 A G 11: 72,056,197 F792S probably damaging Het
Pkd2 T A 5: 104,489,333 I604N probably damaging Het
Pla2g15 T C 8: 106,161,143 Y188H probably damaging Het
Plxnc1 G T 10: 94,864,774 D643E probably benign Het
Prrc2c G A 1: 162,673,511 P1241L probably damaging Het
Ptprd T C 4: 76,059,753 E173G probably damaging Het
Shank3 T C 15: 89,532,354 V232A probably damaging Het
Shbg A G 11: 69,616,738 I171T probably damaging Het
Slc22a14 A T 9: 119,173,608 F404L probably benign Het
Slc37a3 C A 6: 39,355,026 G158C probably damaging Het
Slfn9 C A 11: 82,982,381 L565F probably damaging Het
Tex43 G A 18: 56,594,688 probably benign Het
Trank1 T A 9: 111,366,112 M1068K probably damaging Het
Trbv15 A T 6: 41,141,253 I15L probably benign Het
Ttn C T 2: 76,739,574 V26992M probably damaging Het
Ttn A T 2: 76,811,243 L5176Q possibly damaging Het
Ugt2b34 T A 5: 86,906,701 I74F probably damaging Het
Vamp3 A G 4: 151,051,020 L47P probably damaging Het
Zfp143 T A 7: 110,083,315 C363* probably null Het
Zfp438 T C 18: 5,213,761 E399G probably damaging Het
Other mutations in Kifc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Kifc2 APN 15 76667462 utr 3 prime probably benign
IGL01341:Kifc2 APN 15 76662898 critical splice donor site probably null
IGL02161:Kifc2 APN 15 76666045 missense probably damaging 1.00
IGL02675:Kifc2 APN 15 76662979 missense probably damaging 1.00
IGL02997:Kifc2 APN 15 76664339 missense possibly damaging 0.83
R0034:Kifc2 UTSW 15 76667100 missense probably benign 0.18
R1818:Kifc2 UTSW 15 76666081 missense probably damaging 1.00
R1961:Kifc2 UTSW 15 76662825 missense probably damaging 1.00
R2104:Kifc2 UTSW 15 76661254 missense probably damaging 0.99
R2149:Kifc2 UTSW 15 76662221 missense probably benign 0.00
R3086:Kifc2 UTSW 15 76667252 missense probably benign 0.01
R4704:Kifc2 UTSW 15 76662977 unclassified probably null
R4782:Kifc2 UTSW 15 76664348 missense possibly damaging 0.89
R4834:Kifc2 UTSW 15 76661311 start codon destroyed probably null 0.48
R5085:Kifc2 UTSW 15 76661296 missense probably damaging 1.00
R5160:Kifc2 UTSW 15 76662977 missense probably damaging 1.00
R5253:Kifc2 UTSW 15 76666281 missense possibly damaging 0.94
R5786:Kifc2 UTSW 15 76664378 missense probably damaging 1.00
R5805:Kifc2 UTSW 15 76662153 missense probably benign 0.00
R7290:Kifc2 UTSW 15 76660704 missense probably damaging 1.00
R7311:Kifc2 UTSW 15 76662810 missense probably damaging 1.00
R7511:Kifc2 UTSW 15 76661337 missense possibly damaging 0.50
R7782:Kifc2 UTSW 15 76664128 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAAAGTCTCCTCCACATCCG -3'
(R):5'- TTGAGCGAGCAGATGGTCTC -3'

Sequencing Primer
(F):5'- CGGTTCATTTGCCCTGCAGG -3'
(R):5'- AGATGGTCTCCCCGAGATC -3'
Posted On2016-10-24