Incidental Mutation 'R8017:Kif20b'
ID 656321
Institutional Source Beutler Lab
Gene Symbol Kif20b
Ensembl Gene ENSMUSG00000024795
Gene Name kinesin family member 20B
Synonyms C330014J10Rik, magoo, Kif20b, N-6 kinesin, Mphosph1, 33cex
MMRRC Submission 067457-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R8017 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 34899761-34953145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34917279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 603 (V603A)
Ref Sequence ENSEMBL: ENSMUSP00000084599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000225408]
AlphaFold Q80WE4
Predicted Effect probably damaging
Transcript: ENSMUST00000087341
AA Change: V603A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: V603A

DomainStartEndE-ValueType
Blast:KISc 2 46 5e-15 BLAST
KISc 56 483 1.19e-103 SMART
low complexity region 521 551 N/A INTRINSIC
coiled coil region 565 602 N/A INTRINSIC
coiled coil region 705 746 N/A INTRINSIC
coiled coil region 823 947 N/A INTRINSIC
coiled coil region 1020 1325 N/A INTRINSIC
coiled coil region 1348 1510 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000223907
AA Change: V603A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000224728
Predicted Effect probably benign
Transcript: ENSMUST00000225408
Meta Mutation Damage Score 0.1320 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 95% (36/38)
MGI Phenotype PHENOTYPE: Mice homozygous for ENU induced mutations display craniofacial and nervous system abnormalities including exencephaly, microcephaly, decreased forebrain size and impaired neuronal progenitor proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aar2 T G 2: 156,397,876 (GRCm39) I296S probably benign Het
Acsl5 A G 19: 55,257,228 (GRCm39) I42V probably benign Het
Adam25 T A 8: 41,207,124 (GRCm39) M130K possibly damaging Het
Atosb A T 4: 43,034,413 (GRCm39) F394Y probably damaging Het
Bcl2l2 T A 14: 55,121,840 (GRCm39) M1K probably null Het
Cdh16 T C 8: 105,342,899 (GRCm39) N724S probably damaging Het
Cfi T C 3: 129,648,748 (GRCm39) S211P probably benign Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Crybg2 T A 4: 133,800,484 (GRCm39) V239E possibly damaging Het
Dcn G A 10: 97,319,397 (GRCm39) R58Q probably damaging Het
Dnah10 A G 5: 124,877,949 (GRCm39) N2678S probably benign Het
Dnai7 A G 6: 145,140,283 (GRCm39) S173P probably damaging Het
Fbxo24 C A 5: 137,611,073 (GRCm39) M572I probably benign Het
Hnrnpul1 T C 7: 25,447,889 (GRCm39) E145G probably benign Het
Ica1 A G 6: 8,658,286 (GRCm39) V277A probably benign Het
Idi1 G A 13: 8,937,974 (GRCm39) S140N probably benign Het
Kank1 TGCGA T 19: 25,388,568 (GRCm39) probably null Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Klc2 T C 19: 5,161,867 (GRCm39) K276R probably benign Het
Lmbrd2 T A 15: 9,172,317 (GRCm39) N370K probably benign Het
Map2k5 G T 9: 63,246,403 (GRCm39) A108D probably damaging Het
Obox2 T C 7: 15,130,974 (GRCm39) S69P possibly damaging Het
Or2w2 G A 13: 21,758,648 (GRCm39) probably benign Het
Or4b1d A C 2: 89,969,170 (GRCm39) F104L probably benign Het
Or4f57 G A 2: 111,790,918 (GRCm39) P167S probably damaging Het
Pcdhga8 A G 18: 37,860,783 (GRCm39) E613G probably damaging Het
Pira2 A T 7: 3,844,696 (GRCm39) F445Y probably benign Het
Rab2a T C 4: 8,604,444 (GRCm39) probably null Het
Rsph4a A C 10: 33,785,455 (GRCm39) R455S probably damaging Het
Spata31f1a T C 4: 42,850,840 (GRCm39) T439A probably damaging Het
St6gal1 G A 16: 23,176,585 (GRCm39) A393T probably benign Het
Tmem151a T C 19: 5,132,588 (GRCm39) E206G probably damaging Het
Tmem156 C T 5: 65,231,204 (GRCm39) C222Y probably damaging Het
Tnfrsf11b C T 15: 54,117,598 (GRCm39) W219* probably null Het
Ttc36 T C 9: 44,710,898 (GRCm39) E144G probably damaging Het
Ttn C T 2: 76,597,801 (GRCm39) R19704H probably damaging Het
Wdr17 A C 8: 55,091,403 (GRCm39) I1137S possibly damaging Het
Xxylt1 A G 16: 30,826,637 (GRCm39) L226P probably damaging Het
Zbtb8b G A 4: 129,322,238 (GRCm39) R408W probably damaging Het
Zfp268 A G 4: 145,349,138 (GRCm39) T192A probably benign Het
Zfp873 T A 10: 81,896,193 (GRCm39) V308E probably benign Het
Other mutations in Kif20b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Kif20b APN 19 34,925,060 (GRCm39) missense possibly damaging 0.77
IGL01021:Kif20b APN 19 34,915,660 (GRCm39) missense possibly damaging 0.89
IGL01590:Kif20b APN 19 34,932,126 (GRCm39) missense possibly damaging 0.87
IGL01691:Kif20b APN 19 34,913,143 (GRCm39) splice site probably benign
IGL01730:Kif20b APN 19 34,927,923 (GRCm39) nonsense probably null
IGL02078:Kif20b APN 19 34,913,044 (GRCm39) missense probably damaging 1.00
IGL02174:Kif20b APN 19 34,911,858 (GRCm39) splice site probably benign
IGL02536:Kif20b APN 19 34,951,959 (GRCm39) missense probably benign 0.42
IGL03029:Kif20b APN 19 34,928,313 (GRCm39) missense probably benign
IGL03186:Kif20b APN 19 34,912,344 (GRCm39) missense probably benign 0.45
IGL03205:Kif20b APN 19 34,936,863 (GRCm39) missense probably damaging 1.00
IGL03493:Kif20b APN 19 34,936,950 (GRCm39) nonsense probably null
R0319:Kif20b UTSW 19 34,925,132 (GRCm39) splice site probably benign
R1069:Kif20b UTSW 19 34,928,251 (GRCm39) missense probably damaging 1.00
R1137:Kif20b UTSW 19 34,914,486 (GRCm39) critical splice donor site probably null
R1255:Kif20b UTSW 19 34,927,506 (GRCm39) missense probably benign 0.08
R1352:Kif20b UTSW 19 34,902,035 (GRCm39) missense probably benign
R1466:Kif20b UTSW 19 34,927,999 (GRCm39) missense probably benign 0.00
R1466:Kif20b UTSW 19 34,927,999 (GRCm39) missense probably benign 0.00
R1473:Kif20b UTSW 19 34,951,896 (GRCm39) missense possibly damaging 0.93
R1545:Kif20b UTSW 19 34,906,318 (GRCm39) missense probably damaging 1.00
R1647:Kif20b UTSW 19 34,914,190 (GRCm39) missense possibly damaging 0.65
R1648:Kif20b UTSW 19 34,914,190 (GRCm39) missense possibly damaging 0.65
R1752:Kif20b UTSW 19 34,915,736 (GRCm39) missense probably benign 0.13
R1835:Kif20b UTSW 19 34,933,438 (GRCm39) missense probably damaging 1.00
R1889:Kif20b UTSW 19 34,918,608 (GRCm39) unclassified probably benign
R1937:Kif20b UTSW 19 34,930,278 (GRCm39) missense possibly damaging 0.73
R2112:Kif20b UTSW 19 34,909,132 (GRCm39) missense probably benign 0.04
R2315:Kif20b UTSW 19 34,908,999 (GRCm39) missense probably damaging 1.00
R2385:Kif20b UTSW 19 34,936,819 (GRCm39) missense probably damaging 0.98
R2867:Kif20b UTSW 19 34,917,528 (GRCm39) missense probably damaging 1.00
R2867:Kif20b UTSW 19 34,917,528 (GRCm39) missense probably damaging 1.00
R3086:Kif20b UTSW 19 34,907,115 (GRCm39) missense probably damaging 1.00
R3116:Kif20b UTSW 19 34,947,480 (GRCm39) missense probably benign 0.38
R3407:Kif20b UTSW 19 34,927,900 (GRCm39) missense probably damaging 1.00
R3834:Kif20b UTSW 19 34,912,428 (GRCm39) missense probably damaging 1.00
R3882:Kif20b UTSW 19 34,927,480 (GRCm39) missense probably damaging 1.00
R4698:Kif20b UTSW 19 34,928,944 (GRCm39) missense probably damaging 1.00
R4721:Kif20b UTSW 19 34,915,773 (GRCm39) missense probably benign 0.41
R4883:Kif20b UTSW 19 34,943,522 (GRCm39) missense probably benign 0.00
R4901:Kif20b UTSW 19 34,911,836 (GRCm39) missense probably benign 0.00
R4923:Kif20b UTSW 19 34,918,611 (GRCm39) critical splice acceptor site probably null
R5538:Kif20b UTSW 19 34,930,364 (GRCm39) nonsense probably null
R5540:Kif20b UTSW 19 34,915,860 (GRCm39) missense probably benign 0.01
R5558:Kif20b UTSW 19 34,928,949 (GRCm39) missense probably damaging 1.00
R5580:Kif20b UTSW 19 34,927,128 (GRCm39) splice site probably null
R5934:Kif20b UTSW 19 34,918,721 (GRCm39) missense probably benign 0.02
R6019:Kif20b UTSW 19 34,927,864 (GRCm39) missense probably benign 0.00
R6464:Kif20b UTSW 19 34,911,841 (GRCm39) missense probably benign
R6613:Kif20b UTSW 19 34,914,384 (GRCm39) nonsense probably null
R6745:Kif20b UTSW 19 34,906,276 (GRCm39) missense possibly damaging 0.94
R7097:Kif20b UTSW 19 34,951,892 (GRCm39) missense probably damaging 0.98
R7237:Kif20b UTSW 19 34,928,005 (GRCm39) missense probably damaging 1.00
R7260:Kif20b UTSW 19 34,927,610 (GRCm39) missense probably damaging 1.00
R7373:Kif20b UTSW 19 34,913,071 (GRCm39) missense probably damaging 1.00
R7418:Kif20b UTSW 19 34,907,087 (GRCm39) missense probably damaging 0.99
R7814:Kif20b UTSW 19 34,928,355 (GRCm39) missense possibly damaging 0.63
R7861:Kif20b UTSW 19 34,917,322 (GRCm39) missense probably damaging 1.00
R8696:Kif20b UTSW 19 34,914,752 (GRCm39) missense probably benign 0.02
R8724:Kif20b UTSW 19 34,916,146 (GRCm39) unclassified probably benign
R8849:Kif20b UTSW 19 34,915,716 (GRCm39) nonsense probably null
R8947:Kif20b UTSW 19 34,918,629 (GRCm39) missense possibly damaging 0.46
R8998:Kif20b UTSW 19 34,914,253 (GRCm39) splice site probably benign
R9017:Kif20b UTSW 19 34,927,203 (GRCm39) missense probably benign 0.00
R9245:Kif20b UTSW 19 34,915,725 (GRCm39) missense probably benign 0.02
R9613:Kif20b UTSW 19 34,919,934 (GRCm39) missense possibly damaging 0.80
R9619:Kif20b UTSW 19 34,933,429 (GRCm39) missense probably damaging 1.00
R9732:Kif20b UTSW 19 34,930,353 (GRCm39) missense probably benign 0.18
R9746:Kif20b UTSW 19 34,928,149 (GRCm39) nonsense probably null
Z1088:Kif20b UTSW 19 34,927,851 (GRCm39) missense probably damaging 0.99
Z1176:Kif20b UTSW 19 34,930,275 (GRCm39) missense probably benign 0.11
Z1177:Kif20b UTSW 19 34,927,866 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGAATCTATAGTTGTGTGCAAGAC -3'
(R):5'- CTCTCGTTCATGAAGAAGTGTCTCC -3'

Sequencing Primer
(F):5'- CTATAGTTGTGTGCAAGACTATTAGC -3'
(R):5'- CATGAAGAAGTGTCTCCCTTTAAAAC -3'
Posted On 2020-10-20