Incidental Mutation 'IGL01862:Kif3a'
ID 178394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif3a
Ensembl Gene ENSMUSG00000018395
Gene Name kinesin family member 3A
Synonyms kinesin-II subunit, N-4 kinesin, Kif3, Kifl, Kns3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01862
Quality Score
Status
Chromosome 11
Chromosomal Location 53458206-53492794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53461368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 4 (N4K)
Ref Sequence ENSEMBL: ENSMUSP00000056197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057330] [ENSMUST00000118353] [ENSMUST00000120613] [ENSMUST00000132496] [ENSMUST00000173744]
AlphaFold P28741
Predicted Effect possibly damaging
Transcript: ENSMUST00000057330
AA Change: N4K

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: N4K

DomainStartEndE-ValueType
KISc 12 353 9.79e-187 SMART
coiled coil region 416 593 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118353
AA Change: N4K

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: N4K

DomainStartEndE-ValueType
KISc 12 353 9.79e-187 SMART
low complexity region 365 418 N/A INTRINSIC
coiled coil region 443 620 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120613
AA Change: N4K

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: N4K

DomainStartEndE-ValueType
KISc 12 353 4.6e-189 SMART
coiled coil region 354 383 N/A INTRINSIC
coiled coil region 419 596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132496
AA Change: N3K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000115161
Gene: ENSMUSG00000018395
AA Change: N3K

DomainStartEndE-ValueType
KISc 11 178 4.96e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155165
Predicted Effect probably benign
Transcript: ENSMUST00000173744
AA Change: N4K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: N4K

DomainStartEndE-ValueType
KISc 12 353 9.79e-187 SMART
low complexity region 365 406 N/A INTRINSIC
low complexity region 462 473 N/A INTRINSIC
low complexity region 481 494 N/A INTRINSIC
low complexity region 498 526 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Nullizygous mutations result in embryonic lethality, failure to synthesize cilia in the embryonic node, randomization of left-right asymmetry and structural abnormalities of the neural tube, pericardium, branchial arches, and somites. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,837,997 (GRCm39) S1085* probably null Het
Akap9 T G 5: 4,001,705 (GRCm39) S94A probably damaging Het
Akap9 T A 5: 4,115,856 (GRCm39) N3425K probably damaging Het
Anapc7 T A 5: 122,578,182 (GRCm39) I389N probably benign Het
Aqp7 G A 4: 41,045,321 (GRCm39) R20* probably null Het
Cacna1h C T 17: 25,602,457 (GRCm39) G1524R probably damaging Het
Cacng4 T C 11: 107,685,196 (GRCm39) Y32C probably damaging Het
Cep120 A C 18: 53,847,839 (GRCm39) S673R probably benign Het
Cep162 T C 9: 87,135,986 (GRCm39) E19G possibly damaging Het
Cpxm2 C T 7: 131,661,540 (GRCm39) V416I probably benign Het
Dapk1 A G 13: 60,874,424 (GRCm39) T427A probably benign Het
Ecm1 A T 3: 95,641,586 (GRCm39) D549E probably benign Het
Efemp1 T A 11: 28,871,428 (GRCm39) N342K probably damaging Het
Erc2 T C 14: 27,993,526 (GRCm39) probably benign Het
Fhip2b C T 14: 70,825,130 (GRCm39) R402H probably benign Het
Galnt13 T C 2: 54,747,926 (GRCm39) V269A probably damaging Het
Gm6465 T G 5: 11,899,020 (GRCm39) L171R probably damaging Het
Gpatch1 A G 7: 34,994,703 (GRCm39) V521A probably benign Het
Heatr5b A T 17: 79,103,914 (GRCm39) V1087E possibly damaging Het
Ikzf2 A T 1: 69,578,057 (GRCm39) V484D probably damaging Het
Ints4 T A 7: 97,190,360 (GRCm39) V953E probably damaging Het
Iqce T C 5: 140,685,480 (GRCm39) D15G possibly damaging Het
Lrch4 A T 5: 137,635,271 (GRCm39) I254F probably damaging Het
Ly75 A T 2: 60,129,516 (GRCm39) V1623D probably damaging Het
Mapt T A 11: 104,180,828 (GRCm39) probably benign Het
Mast1 A T 8: 85,639,875 (GRCm39) probably null Het
Mcc G T 18: 44,892,363 (GRCm39) Q84K probably benign Het
Mgat4f G A 1: 134,318,349 (GRCm39) V374I probably benign Het
Mtfr2 G A 10: 20,224,149 (GRCm39) V28M probably benign Het
Myh8 T A 11: 67,180,520 (GRCm39) Y585* probably null Het
Napsa T C 7: 44,231,917 (GRCm39) V202A probably damaging Het
Nsd2 A G 5: 34,001,080 (GRCm39) K199R probably null Het
Ntpcr C T 8: 126,462,837 (GRCm39) A18V probably benign Het
Or2aj4 A T 16: 19,385,426 (GRCm39) M69K probably damaging Het
Or2g25 G T 17: 37,970,368 (GRCm39) N285K probably damaging Het
Or56b35 T A 7: 104,963,439 (GRCm39) I76N probably damaging Het
Or5g9 G T 2: 85,552,472 (GRCm39) C241F probably damaging Het
Or8b9 A G 9: 37,766,477 (GRCm39) D121G probably damaging Het
Os9 A G 10: 126,935,573 (GRCm39) V299A probably benign Het
Pcdhb7 T C 18: 37,476,915 (GRCm39) S684P possibly damaging Het
Phf19 A C 2: 34,787,067 (GRCm39) probably null Het
Pkd1l3 G A 8: 110,357,908 (GRCm39) probably null Het
Pkhd1 A G 1: 20,429,134 (GRCm39) I2422T probably damaging Het
Plxna2 T A 1: 194,326,258 (GRCm39) V64E possibly damaging Het
Psme4 T A 11: 30,762,038 (GRCm39) C459* probably null Het
Ptk6 T C 2: 180,841,433 (GRCm39) S159G probably benign Het
Rhd T C 4: 134,617,650 (GRCm39) I329T possibly damaging Het
Scfd1 A G 12: 51,492,494 (GRCm39) Y601C probably damaging Het
Shroom3 T C 5: 93,110,148 (GRCm39) S1753P probably damaging Het
Slc8a1 A C 17: 81,749,630 (GRCm39) probably null Het
Spg7 T A 8: 123,803,669 (GRCm39) L233Q probably damaging Het
Strip1 C A 3: 107,529,198 (GRCm39) R353L probably damaging Het
Ubr1 T C 2: 120,764,823 (GRCm39) N544D possibly damaging Het
Ubr4 A G 4: 139,204,469 (GRCm39) T4794A possibly damaging Het
Usp24 A G 4: 106,266,095 (GRCm39) probably benign Het
Vmn1r193 A T 13: 22,403,984 (GRCm39) C3S probably benign Het
Yju2b G T 8: 84,987,163 (GRCm39) probably benign Het
Zdhhc5 C T 2: 84,520,836 (GRCm39) R447H probably benign Het
Zfp202 A G 9: 40,123,124 (GRCm39) I629V probably benign Het
Zfp462 T A 4: 55,023,441 (GRCm39) C990S probably damaging Het
Other mutations in Kif3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Kif3a APN 11 53,484,350 (GRCm39) missense possibly damaging 0.53
IGL02411:Kif3a APN 11 53,461,525 (GRCm39) missense probably damaging 1.00
PIT4453001:Kif3a UTSW 11 53,469,941 (GRCm39) missense probably benign 0.16
R0049:Kif3a UTSW 11 53,481,560 (GRCm39) splice site probably benign
R0049:Kif3a UTSW 11 53,481,560 (GRCm39) splice site probably benign
R0078:Kif3a UTSW 11 53,469,812 (GRCm39) missense probably benign 0.22
R0131:Kif3a UTSW 11 53,477,743 (GRCm39) missense possibly damaging 0.53
R1079:Kif3a UTSW 11 53,461,408 (GRCm39) missense possibly damaging 0.87
R1168:Kif3a UTSW 11 53,489,139 (GRCm39) missense probably damaging 1.00
R1554:Kif3a UTSW 11 53,489,154 (GRCm39) missense probably damaging 0.98
R1817:Kif3a UTSW 11 53,489,561 (GRCm39) missense probably damaging 1.00
R2022:Kif3a UTSW 11 53,461,408 (GRCm39) missense probably damaging 1.00
R2964:Kif3a UTSW 11 53,469,757 (GRCm39) missense probably damaging 1.00
R3861:Kif3a UTSW 11 53,488,805 (GRCm39) missense probably benign 0.33
R3928:Kif3a UTSW 11 53,461,441 (GRCm39) missense probably benign 0.02
R4553:Kif3a UTSW 11 53,469,745 (GRCm39) missense possibly damaging 0.93
R5158:Kif3a UTSW 11 53,479,578 (GRCm39) missense probably benign
R5437:Kif3a UTSW 11 53,489,553 (GRCm39) missense probably damaging 0.99
R6621:Kif3a UTSW 11 53,469,957 (GRCm39) missense probably damaging 1.00
R7028:Kif3a UTSW 11 53,477,733 (GRCm39) nonsense probably null
R7384:Kif3a UTSW 11 53,469,681 (GRCm39) missense probably damaging 0.99
R8182:Kif3a UTSW 11 53,485,133 (GRCm39) nonsense probably null
R8493:Kif3a UTSW 11 53,489,627 (GRCm39) nonsense probably null
R8971:Kif3a UTSW 11 53,474,189 (GRCm39) missense probably damaging 1.00
R9261:Kif3a UTSW 11 53,484,248 (GRCm39) small deletion probably benign
R9577:Kif3a UTSW 11 53,475,231 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07