Incidental Mutation 'R9748:Kif5c'
ID 732289
Institutional Source Beutler Lab
Gene Symbol Kif5c
Ensembl Gene ENSMUSG00000026764
Gene Name kinesin family member 5C
Synonyms Khc
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9748 (G1)
Quality Score 144.008
Status Not validated
Chromosome 2
Chromosomal Location 49619298-49774778 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 49694847 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 194 (A194V)
Ref Sequence ENSEMBL: ENSMUSP00000028102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028102]
AlphaFold P28738
PDB Structure Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With Mg-AMPPNP [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-AlFx [X-RAY DIFFRACTION]
Crystal Structure of the Kif1A Motor Domain Complexed With ADP-Mg-VO4 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028102
AA Change: A194V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028102
Gene: ENSMUSG00000026764
AA Change: A194V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 24,811,052 T221A probably benign Het
Adamts12 G A 15: 11,310,542 V962I probably damaging Het
Ano3 T A 2: 110,658,295 I931F probably damaging Het
Arih1 T G 9: 59,393,298 D555A possibly damaging Het
Arsg A G 11: 109,490,626 D65G probably damaging Het
Atp8b3 G A 10: 80,528,573 T567I probably damaging Het
Camkk2 G C 5: 122,734,119 R575G probably benign Het
Ccdc88b G T 19: 6,854,093 L494M probably damaging Het
Cdc7 A G 5: 106,975,539 K317E possibly damaging Het
Cfh A G 1: 140,162,949 probably null Het
Cp T G 3: 19,989,171 V1041G possibly damaging Het
Cpeb3 A G 19: 37,174,526 V150A probably benign Het
Cyp7a1 T A 4: 6,269,216 E352V probably damaging Het
Dnah9 T A 11: 66,085,464 H1253L possibly damaging Het
Dsg3 T C 18: 20,539,704 S811P possibly damaging Het
Efcab5 A T 11: 77,116,196 Y867* probably null Het
Eif2ak1 A G 5: 143,882,213 T231A probably damaging Het
Eif2ak4 T A 2: 118,417,249 C256S probably benign Het
Eif5b A G 1: 38,051,160 N1140S possibly damaging Het
Etnppl A T 3: 130,620,353 M34L probably benign Het
Fcrl5 T G 3: 87,457,162 C549W possibly damaging Het
Fhod1 G A 8: 105,331,691 A811V probably damaging Het
Flcn C T 11: 59,802,154 S198N probably benign Het
Fndc1 T A 17: 7,773,097 H589L unknown Het
Gm10696 G A 3: 94,175,848 H219Y probably damaging Het
Gm13103 A G 4: 143,853,322 *492W probably null Het
Gm36079 T A 13: 120,026,664 E116D possibly damaging Het
Gm8108 G T 14: 4,110,527 probably benign Het
Gm8251 G T 1: 44,056,664 S1758Y possibly damaging Het
Hcn4 C T 9: 58,823,713 R68W unknown Het
Igfn1 A G 1: 135,998,598 L38P possibly damaging Het
Il1r1 A G 1: 40,310,336 T351A probably benign Het
Ildr2 T C 1: 166,269,320 L36P probably damaging Het
Itgb1bp1 C T 12: 21,274,875 C60Y probably damaging Het
Jrk A G 15: 74,707,376 L20P probably damaging Het
Lrp4 C T 2: 91,485,771 L745F probably damaging Het
Ly9 A T 1: 171,601,154 D299E possibly damaging Het
Mfsd1 C T 3: 67,592,577 T185I possibly damaging Het
Mprip A G 11: 59,765,522 Y808C probably damaging Het
Mrps2 C A 2: 28,469,582 H150Q possibly damaging Het
Mturn A T 6: 54,689,004 probably null Het
Myo5a T C 9: 75,184,683 S1205P probably damaging Het
Nckap5 G A 1: 126,026,202 P871L probably damaging Het
Ndst3 T A 3: 123,627,982 I401F probably benign Het
Nek4 G A 14: 30,987,157 V723M possibly damaging Het
Nfe2l2 A G 2: 75,676,323 S478P probably damaging Het
Nol6 T C 4: 41,123,538 Y70C probably damaging Het
Nup88 T C 11: 70,969,671 E94G probably benign Het
Oas1h A T 5: 120,867,025 N179Y probably damaging Het
Olfr108 T G 17: 37,445,704 V61G probably benign Het
Olfr887 T A 9: 38,085,057 S74T probably benign Het
Otof T C 5: 30,383,654 D847G probably damaging Het
Pak1 C A 7: 97,898,635 D331E possibly damaging Het
Pkd1l3 T C 8: 109,646,923 W1374R probably benign Het
Pkdrej G T 15: 85,820,670 T355K possibly damaging Het
Prkcd A T 14: 30,598,843 F607I possibly damaging Het
Prrc2c A G 1: 162,707,866 S775P unknown Het
Prss16 G T 13: 22,008,334 H154N possibly damaging Het
Psme2b T C 11: 48,945,952 D56G possibly damaging Het
Rapsn C T 2: 91,045,478 P400L probably damaging Het
Rptn A G 3: 93,397,454 D698G possibly damaging Het
Rragc T C 4: 123,924,865 V291A possibly damaging Het
Rras2 A G 7: 114,117,394 probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,579,906 probably benign Het
Scyl2 A C 10: 89,640,932 M777R probably benign Het
Serhl G T 15: 83,114,396 V235L probably benign Het
Sh2b3 T C 5: 121,817,811 Y536C probably damaging Het
Sh3pxd2a T C 19: 47,268,654 M570V probably benign Het
Slamf8 C T 1: 172,584,233 V232M probably benign Het
Slc6a21 T A 7: 45,280,517 L143Q probably damaging Het
Snx9 T A 17: 5,899,395 D123E probably benign Het
Soga3 A T 10: 29,148,402 D438V probably damaging Het
Supt6 C A 11: 78,217,941 R1178L probably damaging Het
Sycp2 T G 2: 178,383,511 E379D probably damaging Het
Tekt2 C T 4: 126,323,651 R207H probably damaging Het
Tg A G 15: 66,847,159 M2655V possibly damaging Het
Tiam2 C T 17: 3,511,165 T1335I probably benign Het
Tmem154 T A 3: 84,666,386 L12Q possibly damaging Het
Trpv3 A T 11: 73,283,673 I289F possibly damaging Het
Tubgcp3 A G 8: 12,649,758 L365P probably damaging Het
Tulp4 T C 17: 6,241,205 probably null Het
Tyr A G 7: 87,492,864 S163P possibly damaging Het
Usp42 A T 5: 143,727,778 probably null Het
Vmn2r94 A G 17: 18,243,727 M767T probably benign Het
Wasl A G 6: 24,619,534 V329A unknown Het
Wdr62 T A 7: 30,254,041 M635L possibly damaging Het
Wee1 G T 7: 110,122,515 E56* probably null Het
Zc3h12c C T 9: 52,143,931 G193S probably damaging Het
Zfp236 T A 18: 82,618,883 Q1426L possibly damaging Het
Zfp74 T C 7: 29,935,326 Y319C probably damaging Het
Other mutations in Kif5c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Kif5c APN 2 49694816 missense possibly damaging 0.81
IGL01432:Kif5c APN 2 49701077 missense probably damaging 1.00
IGL01459:Kif5c APN 2 49735557 missense probably benign 0.36
IGL02127:Kif5c APN 2 49701110 splice site probably null
IGL03088:Kif5c APN 2 49744443 missense probably benign 0.01
IGL03379:Kif5c APN 2 49701092 missense probably damaging 0.97
IGL02988:Kif5c UTSW 2 49619717 missense probably damaging 0.97
PIT4131001:Kif5c UTSW 2 49694032 missense probably damaging 0.99
PIT4469001:Kif5c UTSW 2 49741348 missense probably benign 0.00
R0017:Kif5c UTSW 2 49732713 missense probably benign
R0017:Kif5c UTSW 2 49732713 missense probably benign
R0116:Kif5c UTSW 2 49752239 splice site probably benign
R0550:Kif5c UTSW 2 49758912 missense possibly damaging 0.53
R0760:Kif5c UTSW 2 49688753 missense probably damaging 1.00
R0967:Kif5c UTSW 2 49698116 unclassified probably benign
R1015:Kif5c UTSW 2 49744365 missense probably benign 0.13
R1758:Kif5c UTSW 2 49723133 missense probably benign 0.00
R1786:Kif5c UTSW 2 49758805 splice site probably benign
R1828:Kif5c UTSW 2 49680240 critical splice donor site probably null
R2130:Kif5c UTSW 2 49758805 splice site probably benign
R2132:Kif5c UTSW 2 49758805 splice site probably benign
R2237:Kif5c UTSW 2 49694008 missense probably benign 0.35
R3970:Kif5c UTSW 2 49688744 missense probably damaging 1.00
R4439:Kif5c UTSW 2 49688725 missense possibly damaging 0.90
R5260:Kif5c UTSW 2 49735590 missense probably damaging 0.99
R5318:Kif5c UTSW 2 49671828 missense probably benign
R5345:Kif5c UTSW 2 49723066 missense probably benign
R5490:Kif5c UTSW 2 49758858 missense probably benign
R5496:Kif5c UTSW 2 49730190 missense possibly damaging 0.69
R5567:Kif5c UTSW 2 49730199 missense possibly damaging 0.64
R5570:Kif5c UTSW 2 49730199 missense possibly damaging 0.64
R6019:Kif5c UTSW 2 49735509 missense probably benign 0.09
R6688:Kif5c UTSW 2 49688737 missense probably benign 0.06
R7006:Kif5c UTSW 2 49735514 missense probably damaging 0.97
R7009:Kif5c UTSW 2 49757429 missense probably benign
R7081:Kif5c UTSW 2 49741361 missense probably benign 0.00
R7372:Kif5c UTSW 2 49758659 splice site probably null
R7512:Kif5c UTSW 2 49700965 missense probably damaging 1.00
R7549:Kif5c UTSW 2 49701093 missense probably benign 0.11
R7764:Kif5c UTSW 2 49727961 critical splice donor site probably null
R7764:Kif5c UTSW 2 49749327 missense probably damaging 1.00
R7904:Kif5c UTSW 2 49701083 missense probably damaging 1.00
R8292:Kif5c UTSW 2 49735485 missense probably benign 0.05
R8735:Kif5c UTSW 2 49694771 missense probably damaging 1.00
R8816:Kif5c UTSW 2 49694787 missense probably damaging 1.00
R9109:Kif5c UTSW 2 49730139 missense probably damaging 1.00
R9139:Kif5c UTSW 2 49730279 missense probably benign 0.00
R9257:Kif5c UTSW 2 49700592 nonsense probably null
R9325:Kif5c UTSW 2 49749366 missense probably benign 0.04
R9368:Kif5c UTSW 2 49732780 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTAGAATCCAAGCCCCAGG -3'
(R):5'- AGTGCTGCATACACTCACGC -3'

Sequencing Primer
(F):5'- TTAGCTGTACCTTTAGGGGGAGAAAG -3'
(R):5'- ACTCACGCAGCACAGGG -3'
Posted On 2022-11-14