Incidental Mutation 'R1554:Kif3a'
ID 170170
Institutional Source Beutler Lab
Gene Symbol Kif3a
Ensembl Gene ENSMUSG00000018395
Gene Name kinesin family member 3A
Synonyms kinesin-II subunit, N-4 kinesin, Kif3, Kifl, Kns3
MMRRC Submission 039593-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1554 (G1)
Quality Score 198
Status Not validated
Chromosome 11
Chromosomal Location 53458206-53492794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53489154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 117 (K117E)
Ref Sequence ENSEMBL: ENSMUSP00000116509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057330] [ENSMUST00000118353] [ENSMUST00000120613] [ENSMUST00000130037] [ENSMUST00000173744]
AlphaFold P28741
Predicted Effect possibly damaging
Transcript: ENSMUST00000057330
AA Change: K630E

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: K630E

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: K657E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: K657E

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: K633E

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: K633E

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 noncoding transcript
Transcript: ENSMUST00000127858
Predicted Effect probably damaging
Transcript: ENSMUST00000130037
AA Change: K117E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116509
Gene: ENSMUSG00000018395
AA Change: K117E

DomainStartEndE-ValueType
SCOP:d1cm5a_ 5 88 2e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173744
AA Change: K626E

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: K626E

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
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.0%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,886,302 (GRCm39) D70E possibly damaging Het
Adamts7 A T 9: 90,055,703 (GRCm39) D152V probably damaging Het
Api5 T C 2: 94,255,988 (GRCm39) D233G probably benign Het
Btaf1 A G 19: 36,973,998 (GRCm39) D1390G probably benign Het
Cep135 G A 5: 76,782,060 (GRCm39) W893* probably null Het
Cgas A T 9: 78,342,838 (GRCm39) S321R probably damaging Het
Cmtm6 T A 9: 114,575,550 (GRCm39) V153D possibly damaging Het
Dnah11 C T 12: 118,046,234 (GRCm39) V1735I possibly damaging Het
Dnm1l T C 16: 16,159,290 (GRCm39) N104S probably benign Het
Dpyd A T 3: 118,858,695 (GRCm39) probably null Het
Dtx1 T C 5: 120,821,386 (GRCm39) K387R probably damaging Het
Ercc4 A G 16: 12,965,486 (GRCm39) D706G probably damaging Het
Fat2 T C 11: 55,144,490 (GRCm39) N4128S probably benign Het
Gm42669 T A 5: 107,655,653 (GRCm39) C639S possibly damaging Het
Grk3 T A 5: 113,117,135 (GRCm39) I89L possibly damaging Het
Grm8 A T 6: 28,125,852 (GRCm39) D91E probably benign Het
Havcr1 C A 11: 46,643,334 (GRCm39) H85N probably benign Het
Il12rb1 G A 8: 71,266,016 (GRCm39) probably null Het
Kitl T A 10: 99,923,300 (GRCm39) F15L probably benign Het
Ktn1 T G 14: 47,932,964 (GRCm39) L706R probably damaging Het
Lipg T C 18: 75,081,118 (GRCm39) Y321C probably damaging Het
Mapk8ip3 T C 17: 25,122,033 (GRCm39) D710G probably benign Het
Mchr1 A G 15: 81,120,021 (GRCm39) N16S probably benign Het
Myadml2 A T 11: 120,538,553 (GRCm39) L94* probably null Het
Npr3 C A 15: 11,848,649 (GRCm39) M439I probably benign Het
Obscn A G 11: 58,894,474 (GRCm39) I6677T unknown Het
Ogn A C 13: 49,774,520 (GRCm39) D221A probably benign Het
Or8b40 T C 9: 38,027,230 (GRCm39) I46T probably benign Het
Pard3b C A 1: 62,677,053 (GRCm39) Q1195K probably damaging Het
Pcsk4 T C 10: 80,157,785 (GRCm39) E608G probably benign Het
Pdlim1 T C 19: 40,211,516 (GRCm39) D259G probably benign Het
Per1 T C 11: 68,994,453 (GRCm39) S526P probably damaging Het
Pfkfb2 A G 1: 130,634,209 (GRCm39) V156A probably damaging Het
Ppp4r3a A T 12: 101,022,081 (GRCm39) D307E probably damaging Het
Rims4 T C 2: 163,721,042 (GRCm39) S70G probably damaging Het
Rnf213 T C 11: 119,332,665 (GRCm39) F2625L probably benign Het
Sap130 T C 18: 31,799,525 (GRCm39) L334P probably damaging Het
Slc16a10 T C 10: 39,952,796 (GRCm39) I233V probably benign Het
Slc16a7 A C 10: 125,066,791 (GRCm39) F283V possibly damaging Het
Slc25a24 T C 3: 109,043,586 (GRCm39) M81T probably benign Het
Slc30a9 A G 5: 67,484,264 (GRCm39) R134G probably damaging Het
Slc35d3 G T 10: 19,726,483 (GRCm39) L96M probably damaging Het
Slc7a11 C T 3: 50,336,345 (GRCm39) G333D probably damaging Het
Stam T C 2: 14,146,639 (GRCm39) S446P probably benign Het
Stk38 T A 17: 29,198,206 (GRCm39) N248I possibly damaging Het
Tasor2 A G 13: 3,626,374 (GRCm39) V1192A possibly damaging Het
Tle6 A C 10: 81,431,219 (GRCm39) S221A probably benign Het
Tmprss11b G A 5: 86,809,490 (GRCm39) T334I probably benign Het
Tmprss11c T A 5: 86,437,119 (GRCm39) M1L possibly damaging Het
Tpm1 T C 9: 66,930,711 (GRCm39) H262R probably benign Het
Tspan33 T C 6: 29,711,081 (GRCm39) S118P possibly damaging Het
Tyk2 A G 9: 21,019,218 (GRCm39) V1068A probably damaging Het
Ubr2 T C 17: 47,283,877 (GRCm39) I591V probably benign Het
Utp20 A T 10: 88,600,599 (GRCm39) Y38* probably null Het
Vmn1r217 A T 13: 23,298,464 (GRCm39) I146N possibly damaging Het
Zfp608 T C 18: 55,031,126 (GRCm39) Y938C probably damaging Het
Other mutations in Kif3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01365:Kif3a APN 11 53,484,350 (GRCm39) missense possibly damaging 0.53
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
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
Predicted Primers PCR Primer
(F):5'- TCTGATTCACAGCAATGTGGAGAGC -3'
(R):5'- TTGGAGGTCCGTGGCCTTTCTAAC -3'

Sequencing Primer
(F):5'- CAGCAATGTGGAGAGCGTTTG -3'
(R):5'- TTCATCAGAGACTGACGCAG -3'
Posted On 2014-04-13