Incidental Mutation 'IGL02127:Kif5c'
ID 280937
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif5c
Ensembl Gene ENSMUSG00000026764
Gene Name kinesin family member 5C
Synonyms Khc
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02127
Quality Score
Status
Chromosome 2
Chromosomal Location 49509310-49664790 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 49591122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028102] [ENSMUST00000146247]
AlphaFold P28738
Predicted Effect probably null
Transcript: ENSMUST00000028102
SMART Domains Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764

DomainStartEndE-ValueType
KISc 6 335 2.8e-173 SMART
low complexity region 340 357 N/A INTRINSIC
coiled coil region 407 541 N/A INTRINSIC
coiled coil region 592 803 N/A INTRINSIC
coiled coil region 826 915 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000146247
SMART Domains Protein: ENSMUSP00000117370
Gene: ENSMUSG00000026764

DomainStartEndE-ValueType
Pfam:Kinesin 1 63 2.1e-23 PFAM
coiled coil region 67 109 N/A INTRINSIC
coiled coil region 143 243 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homezygous for disruptions in this gene are viable, fertile, and of normal size. The brain is normal but slightly reduced in size with decreased numbers of motor neurons an somewhat more sensory nerves than normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn4 A T 7: 28,597,305 (GRCm39) M661K probably benign Het
Arpin G A 7: 79,577,941 (GRCm39) R163W probably benign Het
Atm C A 9: 53,399,283 (GRCm39) D1573Y probably damaging Het
Avil A G 10: 126,847,695 (GRCm39) N540S probably benign Het
Btnl6 T C 17: 34,733,017 (GRCm39) Q282R probably benign Het
Cacna2d3 T C 14: 28,785,832 (GRCm39) probably benign Het
Cd300ld4 T C 11: 114,913,545 (GRCm39) N170S probably benign Het
Cgnl1 T A 9: 71,633,135 (GRCm39) N72I probably damaging Het
Cntnap3 T C 13: 64,946,878 (GRCm39) probably benign Het
Col27a1 A T 4: 63,143,379 (GRCm39) T356S possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp2c69 G T 19: 39,839,501 (GRCm39) T374N probably damaging Het
Cyp2d26 T C 15: 82,675,307 (GRCm39) E349G probably benign Het
Dnah1 T C 14: 31,026,885 (GRCm39) E713G probably benign Het
Dnah7b A T 1: 46,179,035 (GRCm39) T903S probably benign Het
Enthd1 T C 15: 80,336,943 (GRCm39) D497G probably damaging Het
Grk4 C T 5: 34,867,530 (GRCm39) T165I probably benign Het
Hmcn1 G A 1: 150,598,358 (GRCm39) S1648L probably benign Het
Ints11 A G 4: 155,971,320 (GRCm39) Y278C probably damaging Het
Kcnu1 T C 8: 26,382,090 (GRCm39) L480P probably damaging Het
Kifbp C T 10: 62,414,128 (GRCm39) R10H probably benign Het
Klhl35 T C 7: 99,120,888 (GRCm39) probably benign Het
Lemd3 A T 10: 120,761,933 (GRCm39) D807E possibly damaging Het
Lrrc37a G A 11: 103,395,365 (GRCm39) T20I probably benign Het
Mab21l1 C T 3: 55,691,016 (GRCm39) A201V probably benign Het
Mab21l2 T C 3: 86,454,124 (GRCm39) D292G possibly damaging Het
Map3k21 T C 8: 126,668,886 (GRCm39) L824P probably benign Het
Myo5a T C 9: 75,120,263 (GRCm39) V1687A probably benign Het
Myo5c G T 9: 75,208,184 (GRCm39) W1639C probably damaging Het
Nfya G T 17: 48,700,283 (GRCm39) probably benign Het
Or4a76 A G 2: 89,461,098 (GRCm39) I48T probably damaging Het
Papolg A G 11: 23,820,870 (GRCm39) probably benign Het
Pcdh8 G A 14: 80,006,686 (GRCm39) R626C probably damaging Het
Pclo T C 5: 14,815,159 (GRCm39) probably benign Het
Pogz T C 3: 94,782,014 (GRCm39) probably benign Het
Polg G A 7: 79,107,915 (GRCm39) probably benign Het
Scn9a A G 2: 66,377,479 (GRCm39) V401A probably damaging Het
Scn9a A T 2: 66,325,170 (GRCm39) I1317K probably damaging Het
St7 T A 6: 17,844,968 (GRCm39) probably benign Het
Tdo2 C T 3: 81,866,232 (GRCm39) V344M probably damaging Het
Trmt1 T C 8: 85,424,100 (GRCm39) V400A probably damaging Het
Trrap A G 5: 144,753,243 (GRCm39) N1856S probably benign Het
Ube3a G A 7: 58,925,789 (GRCm39) G210D probably benign Het
Ubqln5 A G 7: 103,778,689 (GRCm39) V45A probably damaging Het
Wdpcp T A 11: 21,661,958 (GRCm39) M410K possibly damaging Het
Xpa G A 4: 46,185,606 (GRCm39) T124M probably damaging Het
Zpbp2 A G 11: 98,446,367 (GRCm39) E172G probably damaging Het
Other mutations in Kif5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Kif5c APN 2 49,584,828 (GRCm39) missense possibly damaging 0.81
IGL01432:Kif5c APN 2 49,591,089 (GRCm39) missense probably damaging 1.00
IGL01459:Kif5c APN 2 49,625,569 (GRCm39) missense probably benign 0.36
IGL03088:Kif5c APN 2 49,634,455 (GRCm39) missense probably benign 0.01
IGL03379:Kif5c APN 2 49,591,104 (GRCm39) missense probably damaging 0.97
IGL02988:Kif5c UTSW 2 49,509,729 (GRCm39) missense probably damaging 0.97
PIT4131001:Kif5c UTSW 2 49,584,044 (GRCm39) missense probably damaging 0.99
PIT4469001:Kif5c UTSW 2 49,631,360 (GRCm39) missense probably benign 0.00
R0017:Kif5c UTSW 2 49,622,725 (GRCm39) missense probably benign
R0017:Kif5c UTSW 2 49,622,725 (GRCm39) missense probably benign
R0116:Kif5c UTSW 2 49,642,251 (GRCm39) splice site probably benign
R0550:Kif5c UTSW 2 49,648,924 (GRCm39) missense possibly damaging 0.53
R0760:Kif5c UTSW 2 49,578,765 (GRCm39) missense probably damaging 1.00
R0967:Kif5c UTSW 2 49,588,128 (GRCm39) unclassified probably benign
R1015:Kif5c UTSW 2 49,634,377 (GRCm39) missense probably benign 0.13
R1758:Kif5c UTSW 2 49,613,145 (GRCm39) missense probably benign 0.00
R1786:Kif5c UTSW 2 49,648,817 (GRCm39) splice site probably benign
R1828:Kif5c UTSW 2 49,570,252 (GRCm39) critical splice donor site probably null
R2130:Kif5c UTSW 2 49,648,817 (GRCm39) splice site probably benign
R2132:Kif5c UTSW 2 49,648,817 (GRCm39) splice site probably benign
R2237:Kif5c UTSW 2 49,584,020 (GRCm39) missense probably benign 0.35
R3970:Kif5c UTSW 2 49,578,756 (GRCm39) missense probably damaging 1.00
R4439:Kif5c UTSW 2 49,578,737 (GRCm39) missense possibly damaging 0.90
R5260:Kif5c UTSW 2 49,625,602 (GRCm39) missense probably damaging 0.99
R5318:Kif5c UTSW 2 49,561,840 (GRCm39) missense probably benign
R5345:Kif5c UTSW 2 49,613,078 (GRCm39) missense probably benign
R5490:Kif5c UTSW 2 49,648,870 (GRCm39) missense probably benign
R5496:Kif5c UTSW 2 49,620,202 (GRCm39) missense possibly damaging 0.69
R5567:Kif5c UTSW 2 49,620,211 (GRCm39) missense possibly damaging 0.64
R5570:Kif5c UTSW 2 49,620,211 (GRCm39) missense possibly damaging 0.64
R6019:Kif5c UTSW 2 49,625,521 (GRCm39) missense probably benign 0.09
R6688:Kif5c UTSW 2 49,578,749 (GRCm39) missense probably benign 0.06
R7006:Kif5c UTSW 2 49,625,526 (GRCm39) missense probably damaging 0.97
R7009:Kif5c UTSW 2 49,647,441 (GRCm39) missense probably benign
R7081:Kif5c UTSW 2 49,631,373 (GRCm39) missense probably benign 0.00
R7372:Kif5c UTSW 2 49,648,671 (GRCm39) splice site probably null
R7512:Kif5c UTSW 2 49,590,977 (GRCm39) missense probably damaging 1.00
R7549:Kif5c UTSW 2 49,591,105 (GRCm39) missense probably benign 0.11
R7764:Kif5c UTSW 2 49,639,339 (GRCm39) missense probably damaging 1.00
R7764:Kif5c UTSW 2 49,617,973 (GRCm39) critical splice donor site probably null
R7904:Kif5c UTSW 2 49,591,095 (GRCm39) missense probably damaging 1.00
R8292:Kif5c UTSW 2 49,625,497 (GRCm39) missense probably benign 0.05
R8735:Kif5c UTSW 2 49,584,783 (GRCm39) missense probably damaging 1.00
R8816:Kif5c UTSW 2 49,584,799 (GRCm39) missense probably damaging 1.00
R9109:Kif5c UTSW 2 49,620,151 (GRCm39) missense probably damaging 1.00
R9139:Kif5c UTSW 2 49,620,291 (GRCm39) missense probably benign 0.00
R9257:Kif5c UTSW 2 49,590,604 (GRCm39) nonsense probably null
R9325:Kif5c UTSW 2 49,639,378 (GRCm39) missense probably benign 0.04
R9368:Kif5c UTSW 2 49,622,792 (GRCm39) missense probably damaging 0.99
R9748:Kif5c UTSW 2 49,584,859 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16