Incidental Mutation 'R3086:Kif20b'
ID 265657
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 040575-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.904) question?
Stock # R3086 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 34899761-34953145 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34907115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 128 (F128S)
Ref Sequence ENSEMBL: ENSMUSP00000152994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223776] [ENSMUST00000223907] [ENSMUST00000225408]
AlphaFold Q80WE4
Predicted Effect probably damaging
Transcript: ENSMUST00000087341
AA Change: F128S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: F128S

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: ENSMUST00000223776
AA Change: F128S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223907
AA Change: F128S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224603
Predicted Effect probably benign
Transcript: ENSMUST00000225408
Meta Mutation Damage Score 0.4711 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (42/42)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik T C 17: 47,083,881 (GRCm39) L48P probably damaging Het
Adgra3 A T 5: 50,170,733 (GRCm39) probably null Het
Alms1 A G 6: 85,655,122 (GRCm39) R3223G probably benign Het
Bltp1 A G 3: 37,065,852 (GRCm39) D3483G possibly damaging Het
Cabyr T C 18: 12,884,023 (GRCm39) V170A probably damaging Het
Ces2b A T 8: 105,559,401 (GRCm39) D89V possibly damaging Het
Dhrs2 G T 14: 55,477,301 (GRCm39) V179L probably benign Het
Dlg5 T C 14: 24,216,258 (GRCm39) T595A probably damaging Het
Dock10 T C 1: 80,510,074 (GRCm39) N1585D possibly damaging Het
Dock4 T C 12: 40,781,862 (GRCm39) I689T probably benign Het
Fgfr4 G T 13: 55,315,205 (GRCm39) probably benign Het
Frk G A 10: 34,483,950 (GRCm39) G437D probably damaging Het
Frzb T G 2: 80,248,858 (GRCm39) I199L possibly damaging Het
Gsg1l C T 7: 125,490,852 (GRCm39) R284H probably benign Het
Helq A G 5: 100,921,858 (GRCm39) L782S probably benign Het
Kifc2 T C 15: 76,551,452 (GRCm39) F725L probably benign Het
Lekr1 A G 3: 65,634,581 (GRCm39) noncoding transcript Het
Macf1 T A 4: 123,328,901 (GRCm39) M2490L probably benign Het
Megf8 T A 7: 25,048,444 (GRCm39) Y1706N probably damaging Het
N4bp2 A G 5: 65,948,396 (GRCm39) Y342C probably damaging Het
Nf1 T C 11: 79,437,812 (GRCm39) C2057R probably damaging Het
Or4f60 C A 2: 111,902,320 (GRCm39) G203* probably null Het
Or4k36 A G 2: 111,146,461 (GRCm39) I212M probably benign Het
Or6c88 G A 10: 129,407,276 (GRCm39) G251S probably damaging Het
Orc4 G A 2: 48,827,501 (GRCm39) P31S probably benign Het
Pcdha1 G C 18: 37,064,001 (GRCm39) E222Q possibly damaging Het
Prune2 A T 19: 17,098,777 (GRCm39) D1427V possibly damaging Het
Rnps1 C T 17: 24,631,393 (GRCm39) probably benign Het
Rsph4a G C 10: 33,785,198 (GRCm39) V370L probably damaging Het
Sema5b T A 16: 35,443,093 (GRCm39) S33T probably benign Het
Stk-ps2 A C 1: 46,068,236 (GRCm39) noncoding transcript Het
Tep1 A T 14: 51,064,511 (GRCm39) probably null Het
Tet1 T C 10: 62,715,400 (GRCm39) K132E probably benign Het
Tiam2 A G 17: 3,471,857 (GRCm39) K500E probably damaging Het
Tmem131l G T 3: 83,839,046 (GRCm39) R635S probably benign Het
Tmem68 T C 4: 3,569,594 (GRCm39) E32G possibly damaging Het
Vmn2r101 T A 17: 19,809,077 (GRCm39) probably null Het
Zfp780b A G 7: 27,663,055 (GRCm39) I500T probably damaging Het
Zfyve26 G T 12: 79,312,457 (GRCm39) 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
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
R8017:Kif20b UTSW 19 34,917,279 (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'- CCCCTGGATGTGTGAGTTTTCT -3'
(R):5'- TGATGGAAATATTATGACATCATTGGG -3'

Sequencing Primer
(F):5'- TTAGACTTACTGGCAGGCAC -3'
(R):5'- CCAGAATTGGTCAGACCATA -3'
Posted On 2015-02-05