Incidental Mutation 'R3723:Kif18b'
ID 270638
Institutional Source Beutler Lab
Gene Symbol Kif18b
Ensembl Gene ENSMUSG00000051378
Gene Name kinesin family member 18B
Synonyms N-8 kinesin, 3000004C01Rik
MMRRC Submission 040714-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3723 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 102796355-102815950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102807102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 78 (F78L)
Ref Sequence ENSEMBL: ENSMUSP00000021311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021311]
AlphaFold Q6PFD6
Predicted Effect probably damaging
Transcript: ENSMUST00000021311
AA Change: F78L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021311
Gene: ENSMUSG00000051378
AA Change: F78L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181125
Meta Mutation Damage Score 0.4847 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,994,217 (GRCm39) V5167A possibly damaging Het
Ano5 A G 7: 51,226,276 (GRCm39) Y510C probably damaging Het
Api5 C T 2: 94,255,958 (GRCm39) R243Q possibly damaging Het
Apob A T 12: 8,056,327 (GRCm39) Q1570L probably damaging Het
Apob A G 12: 8,061,763 (GRCm39) N3415S possibly damaging Het
Arsk T A 13: 76,214,772 (GRCm39) I361F probably damaging Het
C9 G A 15: 6,512,561 (GRCm39) E228K possibly damaging Het
Celsr2 A G 3: 108,304,731 (GRCm39) probably benign Het
Cfap53 A G 18: 74,492,640 (GRCm39) I455V probably benign Het
Ckap4 A G 10: 84,364,256 (GRCm39) L269P probably damaging Het
Dnah7a T A 1: 53,486,505 (GRCm39) D3352V probably benign Het
Dync2h1 A T 9: 7,041,658 (GRCm39) M3335K probably benign Het
Fam171a1 A G 2: 3,221,412 (GRCm39) probably benign Het
Glis3 A T 19: 28,239,991 (GRCm39) C97* probably null Het
Gm14221 C G 2: 160,410,347 (GRCm39) noncoding transcript Het
Gm8603 A C 17: 13,737,075 (GRCm39) probably null Het
Gm9767 G T 10: 25,954,469 (GRCm39) probably benign Het
Kctd16 A G 18: 40,391,912 (GRCm39) T167A possibly damaging Het
Mefv A G 16: 3,526,058 (GRCm39) probably null Het
Mipol1 C A 12: 57,503,878 (GRCm39) L349I probably damaging Het
Myo10 T C 15: 25,803,374 (GRCm39) V1527A probably damaging Het
Naip5 G T 13: 100,359,522 (GRCm39) Y571* probably null Het
Npl A G 1: 153,391,210 (GRCm39) F182L probably benign Het
Pan3 T A 5: 147,440,018 (GRCm39) probably benign Het
Pcdh15 A T 10: 74,481,680 (GRCm39) T342S probably benign Het
Pcdhga1 A G 18: 37,796,045 (GRCm39) T350A possibly damaging Het
Pramel28 T C 4: 143,693,251 (GRCm39) T76A probably benign Het
Prdm4 A G 10: 85,735,145 (GRCm39) S666P probably damaging Het
Rere A G 4: 150,553,252 (GRCm39) E148G probably damaging Het
Scube2 T C 7: 109,407,613 (GRCm39) probably benign Het
Sptbn1 A G 11: 30,087,335 (GRCm39) S1035P possibly damaging Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Supt3 A G 17: 45,305,274 (GRCm39) D108G probably damaging Het
Tnfsf13b A G 8: 10,081,545 (GRCm39) I236V possibly damaging Het
Tns1 T C 1: 73,964,099 (GRCm39) S1511G probably damaging Het
Tpm1 G A 9: 66,939,227 (GRCm39) probably benign Het
Uba6 T C 5: 86,282,906 (GRCm39) D559G probably damaging Het
Vmn1r117 T A 7: 20,617,380 (GRCm39) I223F probably damaging Het
Vmn2r91 G A 17: 18,305,540 (GRCm39) probably null Het
Zfp30 A G 7: 29,492,778 (GRCm39) E344G probably 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
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
R8378:Kif18b UTSW 11 102,807,299 (GRCm39) missense probably damaging 1.00
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'- GCACCACGAGTTCAAACTTG -3'
(R):5'- CCCTAAGGAGCTAGAGAGTCAG -3'

Sequencing Primer
(F):5'- ATTGGCTACTGTAGACTAGGACCC -3'
(R):5'- GCTAGAGAGTCAGCGGCG -3'
Posted On 2015-03-18