Incidental Mutation 'R3086:Kifc2'
ID 265650
Institutional Source Beutler Lab
Gene Symbol Kifc2
Ensembl Gene ENSMUSG00000004187
Gene Name kinesin family member C2
Synonyms
MMRRC Submission 040575-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3086 (G1)
Quality Score 224
Status Validated
Chromosome 15
Chromosomal Location 76544058-76552396 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76551452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 725 (F725L)
Ref Sequence ENSEMBL: ENSMUSP00000004294 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004294] [ENSMUST00000037551] [ENSMUST00000037824] [ENSMUST00000135388] [ENSMUST00000230451] [ENSMUST00000230964]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000004294
AA Change: F725L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: F725L

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 probably benign
Transcript: ENSMUST00000230451
AA Change: F640L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000230964
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230207
Meta Mutation Damage Score 0.0715 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,881 (GRCm39) L48P probably damaging Het
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Bltp1 A G 3: 37,065,852 (GRCm39) D3483G possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Ces2b A T 8: 105,559,401 (GRCm39) D89V possibly damaging Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Dock10 T C 1: 80,510,074 (GRCm39) N1585D possibly damaging Het
Dock4 T C 12: 40,781,862 (GRCm39) I689T probably benign Het
Fgfr4 G T 13: 55,315,205 (GRCm39) probably benign Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Frzb T G 2: 80,248,858 (GRCm39) I199L possibly damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Helq A G 5: 100,921,858 (GRCm39) L782S probably benign Het
Kif20b T C 19: 34,907,115 (GRCm39) F128S probably damaging Het
Lekr1 A G 3: 65,634,581 (GRCm39) noncoding transcript Het
Macf1 T A 4: 123,328,901 (GRCm39) M2490L probably benign Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
N4bp2 A G 5: 65,948,396 (GRCm39) Y342C probably damaging Het
Nf1 T C 11: 79,437,812 (GRCm39) C2057R probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or6c88 G A 10: 129,407,276 (GRCm39) G251S probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdha1 G C 18: 37,064,001 (GRCm39) E222Q possibly damaging Het
Prune2 A T 19: 17,098,777 (GRCm39) D1427V possibly damaging Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Rsph4a G C 10: 33,785,198 (GRCm39) V370L probably damaging Het
Sema5b T A 16: 35,443,093 (GRCm39) S33T probably benign Het
Stk-ps2 A C 1: 46,068,236 (GRCm39) noncoding transcript Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tiam2 A G 17: 3,471,857 (GRCm39) K500E probably damaging Het
Tmem131l G T 3: 83,839,046 (GRCm39) R635S probably benign Het
Tmem68 T C 4: 3,569,594 (GRCm39) E32G possibly damaging Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Zfp780b A G 7: 27,663,055 (GRCm39) I500T probably damaging Het
Zfyve26 G T 12: 79,312,457 (GRCm39) probably benign Het
Other mutations in Kifc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Kifc2 APN 15 76,551,662 (GRCm39) utr 3 prime probably benign
IGL01341:Kifc2 APN 15 76,547,098 (GRCm39) critical splice donor site probably null
IGL02161:Kifc2 APN 15 76,550,245 (GRCm39) missense probably damaging 1.00
IGL02675:Kifc2 APN 15 76,547,179 (GRCm39) missense probably damaging 1.00
IGL02997:Kifc2 APN 15 76,548,539 (GRCm39) missense possibly damaging 0.83
R0034:Kifc2 UTSW 15 76,551,300 (GRCm39) missense probably benign 0.18
R1818:Kifc2 UTSW 15 76,550,281 (GRCm39) missense probably damaging 1.00
R1961:Kifc2 UTSW 15 76,547,025 (GRCm39) missense probably damaging 1.00
R2104:Kifc2 UTSW 15 76,545,454 (GRCm39) missense probably damaging 0.99
R2149:Kifc2 UTSW 15 76,546,421 (GRCm39) missense probably benign 0.00
R4704:Kifc2 UTSW 15 76,547,177 (GRCm39) splice site probably null
R4782:Kifc2 UTSW 15 76,548,548 (GRCm39) missense possibly damaging 0.89
R4834:Kifc2 UTSW 15 76,545,511 (GRCm39) start codon destroyed probably null 0.48
R5085:Kifc2 UTSW 15 76,545,496 (GRCm39) missense probably damaging 1.00
R5160:Kifc2 UTSW 15 76,547,177 (GRCm39) missense probably damaging 1.00
R5253:Kifc2 UTSW 15 76,550,481 (GRCm39) missense possibly damaging 0.94
R5543:Kifc2 UTSW 15 76,551,242 (GRCm39) missense probably damaging 0.99
R5786:Kifc2 UTSW 15 76,548,578 (GRCm39) missense probably damaging 1.00
R5805:Kifc2 UTSW 15 76,546,353 (GRCm39) missense probably benign 0.00
R7290:Kifc2 UTSW 15 76,544,904 (GRCm39) missense probably damaging 1.00
R7311:Kifc2 UTSW 15 76,547,010 (GRCm39) missense probably damaging 1.00
R7511:Kifc2 UTSW 15 76,545,537 (GRCm39) missense possibly damaging 0.50
R7782:Kifc2 UTSW 15 76,548,328 (GRCm39) missense probably benign 0.00
R8816:Kifc2 UTSW 15 76,548,371 (GRCm39) missense probably damaging 1.00
R8834:Kifc2 UTSW 15 76,551,250 (GRCm39) missense probably damaging 1.00
R9010:Kifc2 UTSW 15 76,550,885 (GRCm39) missense possibly damaging 0.69
R9574:Kifc2 UTSW 15 76,546,397 (GRCm39) missense probably damaging 1.00
Z1177:Kifc2 UTSW 15 76,545,488 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGCTTACGCGCCTGTTACAG -3'
(R):5'- TACATTCTCAAGCCCAGTACCAGG -3'

Sequencing Primer
(F):5'- TGTTACAGCCGGCGCTCTG -3'
(R):5'- CCCCTGGAGGTTCAAGAGTCAAG -3'
Posted On 2015-02-05