Incidental Mutation 'R8378:Kif18b'
ID 646820
Institutional Source Beutler Lab
Gene Symbol Kif18b
Ensembl Gene ENSMUSG00000051378
Gene Name kinesin family member 18B
Synonyms N-8 kinesin, 3000004C01Rik
MMRRC Submission 067746-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8378 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 102796355-102815950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102807299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 12 (V12E)
Ref Sequence ENSEMBL: ENSMUSP00000021311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021311]
AlphaFold Q6PFD6
Predicted Effect probably damaging
Transcript: ENSMUST00000021311
AA Change: V12E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021311
Gene: ENSMUSG00000051378
AA Change: V12E

DomainStartEndE-ValueType
KISc 7 361 1.47e-158 SMART
coiled coil region 368 404 N/A INTRINSIC
low complexity region 510 522 N/A INTRINSIC
low complexity region 676 682 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 59,886,967 (GRCm39) I491T probably damaging Het
Aadacl4fm4 C G 4: 144,397,169 (GRCm39) V188L probably benign Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Ap1s3 T C 1: 79,601,445 (GRCm39) E82G probably damaging Het
Bmp3 A G 5: 99,003,248 (GRCm39) N93D probably damaging Het
Car9 C T 4: 43,509,021 (GRCm39) R224C probably damaging Het
Cass4 T C 2: 172,269,714 (GRCm39) C599R probably benign Het
Ccdc171 A G 4: 83,782,490 (GRCm39) N1261D possibly damaging Het
Cdc42bpa A G 1: 179,989,709 (GRCm39) D1726G probably damaging Het
Ceacam2 G A 7: 25,217,597 (GRCm39) A306V probably damaging Het
Crebrf G T 17: 26,981,263 (GRCm39) L546F probably damaging Het
Crhr2 A G 6: 55,069,941 (GRCm39) F370S probably damaging Het
Dhtkd1 T C 2: 5,922,699 (GRCm39) T487A probably benign Het
Diaph1 G A 18: 38,025,006 (GRCm39) A485V unknown Het
Dmbt1 T C 7: 130,708,195 (GRCm39) V1479A probably damaging Het
Efemp1 C T 11: 28,871,765 (GRCm39) R427W probably damaging Het
Gm11444 C A 11: 85,741,075 (GRCm39) W28L Het
Golga4 A G 9: 118,387,390 (GRCm39) D1504G probably benign Het
Hirip3 A G 7: 126,462,757 (GRCm39) S238G probably benign Het
Igkv1-135 T A 6: 67,587,378 (GRCm39) V83D possibly damaging Het
Ippk T A 13: 49,589,055 (GRCm39) C183* probably null Het
Itgb3 A G 11: 104,533,142 (GRCm39) T419A possibly damaging Het
Kcnt1 A G 2: 25,797,283 (GRCm39) H129R probably benign Het
Kif2b C A 11: 91,467,201 (GRCm39) G361C possibly damaging Het
Klhl30 A T 1: 91,285,494 (GRCm39) K339* probably null Het
Lrfn1 A G 7: 28,159,157 (GRCm39) I359V probably benign Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ndufaf2 C A 13: 108,189,387 (GRCm39) L120F probably damaging Het
Nlrp1b A G 11: 71,052,545 (GRCm39) V961A possibly damaging Het
Or12e10 T A 2: 87,640,394 (GRCm39) Y77N probably damaging Het
Or2h15 A G 17: 38,441,678 (GRCm39) V135A probably benign Het
Pcnx2 G A 8: 126,487,649 (GRCm39) P1785S probably damaging Het
Pcyt2 A G 11: 120,504,234 (GRCm39) Y170H probably benign Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Rfx8 T A 1: 39,709,581 (GRCm39) D482V probably damaging Het
Rilpl1 T C 5: 124,668,964 (GRCm39) Y28C probably damaging Het
Sgce G C 6: 4,689,760 (GRCm39) L394V probably damaging Het
Sgce T A 6: 4,691,525 (GRCm39) Y350F probably benign Het
Tbk1 A G 10: 121,414,597 (GRCm39) V39A probably damaging Het
Tns1 T A 1: 73,976,405 (GRCm39) I1148F probably damaging Het
Vmn1r192 T A 13: 22,372,029 (GRCm39) R64* probably null Het
Vmn2r68 A T 7: 84,871,108 (GRCm39) V725E probably benign Het
Yy1 A T 12: 108,759,562 (GRCm39) H75L unknown Het
Zwilch A T 9: 64,060,240 (GRCm39) V366D possibly damaging Het
Other mutations in Kif18b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Kif18b APN 11 102,805,501 (GRCm39) missense probably damaging 0.99
IGL01570:Kif18b APN 11 102,803,217 (GRCm39) missense probably benign 0.04
IGL02965:Kif18b APN 11 102,807,338 (GRCm39) start gained probably benign
IGL02997:Kif18b APN 11 102,799,910 (GRCm39) missense probably damaging 1.00
IGL03135:Kif18b APN 11 102,805,086 (GRCm39) missense probably damaging 1.00
IGL02988:Kif18b UTSW 11 102,799,146 (GRCm39) missense probably damaging 1.00
R0541:Kif18b UTSW 11 102,806,001 (GRCm39) missense probably damaging 0.98
R1446:Kif18b UTSW 11 102,805,525 (GRCm39) missense probably damaging 0.99
R1674:Kif18b UTSW 11 102,803,886 (GRCm39) missense probably benign 0.04
R1729:Kif18b UTSW 11 102,806,367 (GRCm39) critical splice donor site probably null
R1784:Kif18b UTSW 11 102,806,367 (GRCm39) critical splice donor site probably null
R2249:Kif18b UTSW 11 102,803,214 (GRCm39) missense probably benign 0.01
R2291:Kif18b UTSW 11 102,799,096 (GRCm39) missense probably damaging 1.00
R3723:Kif18b UTSW 11 102,807,102 (GRCm39) missense probably damaging 1.00
R5496:Kif18b UTSW 11 102,804,568 (GRCm39) missense possibly damaging 0.88
R5500:Kif18b UTSW 11 102,806,526 (GRCm39) missense probably damaging 1.00
R5598:Kif18b UTSW 11 102,799,015 (GRCm39) missense possibly damaging 0.89
R5820:Kif18b UTSW 11 102,803,874 (GRCm39) missense probably benign 0.00
R5910:Kif18b UTSW 11 102,804,370 (GRCm39) missense probably benign
R5912:Kif18b UTSW 11 102,803,817 (GRCm39) missense probably benign
R6394:Kif18b UTSW 11 102,805,236 (GRCm39) missense probably damaging 1.00
R6541:Kif18b UTSW 11 102,805,092 (GRCm39) missense probably damaging 1.00
R6911:Kif18b UTSW 11 102,807,206 (GRCm39) missense probably damaging 0.96
R7467:Kif18b UTSW 11 102,803,174 (GRCm39) splice site probably null
R7467:Kif18b UTSW 11 102,807,234 (GRCm39) missense probably damaging 1.00
R7526:Kif18b UTSW 11 102,805,493 (GRCm39) missense probably damaging 1.00
R7581:Kif18b UTSW 11 102,805,548 (GRCm39) missense probably damaging 1.00
R8314:Kif18b UTSW 11 102,803,900 (GRCm39) missense probably benign
RF013:Kif18b UTSW 11 102,803,192 (GRCm39) missense probably benign 0.00
Z1088:Kif18b UTSW 11 102,798,983 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAACACATCCTCCTGAGTGG -3'
(R):5'- GATTCTGCTACCGATGTCTTGC -3'

Sequencing Primer
(F):5'- GACAAATGTCAGGTCTTTGCC -3'
(R):5'- TTGCTCTATGGAGGACATAATAGAGC -3'
Posted On 2020-09-02