Incidental Mutation 'IGL01365:Kif3a'
ID 75916
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 # IGL01365
Quality Score
Status
Chromosome 11
Chromosomal Location 53458206-53492794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53484350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 486 (K486E)
Ref Sequence ENSEMBL: ENSMUSP00000113848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057330] [ENSMUST00000118353] [ENSMUST00000120613] [ENSMUST00000130037] [ENSMUST00000173744]
AlphaFold P28741
Predicted Effect probably benign
Transcript: ENSMUST00000057330
AA Change: K459E

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: K459E

DomainStartEndE-ValueType
KISc 12 353 9.79e-187 SMART
coiled coil region 416 593 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118353
AA Change: K486E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: K486E

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 possibly damaging
Transcript: ENSMUST00000120613
AA Change: K462E

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: K462E

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: ENSMUST00000130037
SMART Domains Protein: ENSMUSP00000116509
Gene: ENSMUSG00000018395

DomainStartEndE-ValueType
SCOP:d1cm5a_ 5 88 2e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173744
AA Change: K455E

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: K455E

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb3 T C 10: 85,469,680 (GRCm39) V867A possibly damaging Het
Adgre5 G T 8: 84,450,518 (GRCm39) probably null Het
Agtr1a A G 13: 30,565,811 (GRCm39) Y292C probably damaging Het
CK137956 A G 4: 127,845,135 (GRCm39) S203P probably benign Het
Cnbd1 C T 4: 18,860,576 (GRCm39) G390D probably damaging Het
Cttnbp2nl T C 3: 104,912,346 (GRCm39) T513A probably damaging Het
Dppa2 A G 16: 48,134,276 (GRCm39) K67R possibly damaging Het
Lmnb2 G T 10: 80,740,818 (GRCm39) Q151K probably benign Het
Lmtk3 T A 7: 45,440,331 (GRCm39) L223Q probably damaging Het
Lrrk1 A G 7: 65,937,449 (GRCm39) I901T probably damaging Het
Macf1 T C 4: 123,284,962 (GRCm39) Y3624C probably damaging Het
Mios T A 6: 8,216,089 (GRCm39) Y428* probably null Het
Myb A G 10: 21,028,401 (GRCm39) I154T probably benign Het
Or14a256 T C 7: 86,265,205 (GRCm39) Y216C probably damaging Het
Parp9 C T 16: 35,768,324 (GRCm39) T168I possibly damaging Het
Pramel7 T C 2: 87,321,757 (GRCm39) probably benign Het
Ptar1 T A 19: 23,683,165 (GRCm39) W140R probably damaging Het
Sec14l2 G T 11: 4,048,317 (GRCm39) D400E probably benign Het
Setd3 A T 12: 108,124,165 (GRCm39) Y175N probably damaging Het
Slc5a8 C T 10: 88,727,959 (GRCm39) probably benign Het
Slc8a3 A G 12: 81,362,150 (GRCm39) V223A probably damaging Het
Srsf1 G T 11: 87,940,007 (GRCm39) R173L possibly damaging Het
Svep1 T A 4: 58,100,878 (GRCm39) probably null Het
Tead2 T A 7: 44,866,675 (GRCm39) D11E probably damaging Het
Trappc12 T A 12: 28,797,401 (GRCm39) I44F probably damaging Het
Ttll9 T C 2: 152,842,054 (GRCm39) Y303H possibly damaging Het
Vmn1r28 T A 6: 58,242,176 (GRCm39) N6K possibly damaging Het
Other mutations in Kif3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Kif3a APN 11 53,461,368 (GRCm39) missense possibly damaging 0.63
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 2013-10-07