Incidental Mutation 'IGL03493:Kif20b'
ID490722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kif20b
Ensembl Gene ENSMUSG00000024795
Gene Namekinesin family member 20B
SynonymsKif20b, Mphosph1, N-6 kinesin
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.829) question?
Stock #IGL03493
Quality Score
Status
Chromosome19
Chromosomal Location34922361-34975745 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 34959550 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 183 (C183*)
Ref Sequence ENSEMBL: ENSMUSP00000153193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000223937]
Predicted Effect probably null
Transcript: ENSMUST00000087341
AA Change: C1448*
SMART Domains Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: C1448*

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 null
Transcript: ENSMUST00000223907
AA Change: C1408*
Predicted Effect probably null
Transcript: ENSMUST00000223937
AA Change: C183*
Predicted Effect probably benign
Transcript: ENSMUST00000224728
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart1 G A 4: 72,851,647 T253I probably damaging Het
Ampd2 T C 3: 108,075,358 E694G probably damaging Het
Atcay C A 10: 81,210,573 E306* probably null Het
Atp13a5 G T 16: 29,297,524 D546E probably benign Het
C2cd2 T C 16: 97,881,661 D125G probably damaging Het
Col23a1 T C 11: 51,564,805 probably null Het
Col9a1 T A 1: 24,221,570 probably benign Het
Cyp4a31 T A 4: 115,570,755 probably null Het
Dnah11 G A 12: 118,012,798 R2708C probably benign Het
Dzip3 T C 16: 48,951,696 I537V probably benign Het
Ezh1 T C 11: 101,203,791 T392A probably benign Het
Hsd17b14 A T 7: 45,556,091 D42V probably damaging Het
Hsf2 A T 10: 57,505,366 I294F probably damaging Het
Ibtk G T 9: 85,718,919 S797R probably benign Het
Lnpep G T 17: 17,579,171 A74E probably damaging Het
Map4k1 A T 7: 28,984,151 probably benign Het
Matn1 A G 4: 130,949,998 R173G probably benign Het
Nyap1 A G 5: 137,735,016 I585T probably damaging Het
Olfr1167 G A 2: 88,149,936 P28S probably benign Het
Olfr60 A T 7: 140,345,153 Y279N probably damaging Het
Olfr676 A G 7: 105,035,944 T249A probably damaging Het
Phactr2 A G 10: 13,257,669 V190A probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Rad51c A T 11: 87,397,753 H201Q probably benign Het
Sec63 C A 10: 42,828,941 D730E probably benign Het
Smarcc2 A G 10: 128,461,357 I39M probably damaging Het
Trav2 A G 14: 52,567,288 probably benign Het
Ugt3a2 A G 15: 9,361,483 Y115C probably damaging Het
Zfp955b T G 17: 33,302,545 H329Q probably benign Het
Other mutations in Kif20b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00513:Kif20b APN 19 34947660 missense possibly damaging 0.77
IGL01021:Kif20b APN 19 34938260 missense possibly damaging 0.89
IGL01590:Kif20b APN 19 34954726 missense possibly damaging 0.87
IGL01691:Kif20b APN 19 34935743 splice site probably benign
IGL01730:Kif20b APN 19 34950523 nonsense probably null
IGL02078:Kif20b APN 19 34935644 missense probably damaging 1.00
IGL02174:Kif20b APN 19 34934458 splice site probably benign
IGL02536:Kif20b APN 19 34974559 missense probably benign 0.42
IGL03029:Kif20b APN 19 34950913 missense probably benign
IGL03186:Kif20b APN 19 34934944 missense probably benign 0.45
IGL03205:Kif20b APN 19 34959463 missense probably damaging 1.00
R0319:Kif20b UTSW 19 34947732 splice site probably benign
R1069:Kif20b UTSW 19 34950851 missense probably damaging 1.00
R1137:Kif20b UTSW 19 34937086 critical splice donor site probably null
R1255:Kif20b UTSW 19 34950106 missense probably benign 0.08
R1352:Kif20b UTSW 19 34924635 missense probably benign
R1466:Kif20b UTSW 19 34950599 missense probably benign 0.00
R1466:Kif20b UTSW 19 34950599 missense probably benign 0.00
R1473:Kif20b UTSW 19 34974496 missense possibly damaging 0.93
R1545:Kif20b UTSW 19 34928918 missense probably damaging 1.00
R1647:Kif20b UTSW 19 34936790 missense possibly damaging 0.65
R1648:Kif20b UTSW 19 34936790 missense possibly damaging 0.65
R1752:Kif20b UTSW 19 34938336 missense probably benign 0.13
R1835:Kif20b UTSW 19 34956038 missense probably damaging 1.00
R1889:Kif20b UTSW 19 34941208 unclassified probably benign
R1937:Kif20b UTSW 19 34952878 missense possibly damaging 0.73
R2112:Kif20b UTSW 19 34931732 missense probably benign 0.04
R2315:Kif20b UTSW 19 34931599 missense probably damaging 1.00
R2385:Kif20b UTSW 19 34959419 missense probably damaging 0.98
R2867:Kif20b UTSW 19 34940128 missense probably damaging 1.00
R2867:Kif20b UTSW 19 34940128 missense probably damaging 1.00
R3086:Kif20b UTSW 19 34929715 missense probably damaging 1.00
R3116:Kif20b UTSW 19 34970080 missense probably benign 0.38
R3407:Kif20b UTSW 19 34950500 missense probably damaging 1.00
R3834:Kif20b UTSW 19 34935028 missense probably damaging 1.00
R3882:Kif20b UTSW 19 34950080 missense probably damaging 1.00
R4698:Kif20b UTSW 19 34951544 missense probably damaging 1.00
R4721:Kif20b UTSW 19 34938373 missense probably benign 0.41
R4883:Kif20b UTSW 19 34966122 missense probably benign 0.00
R4901:Kif20b UTSW 19 34934436 missense probably benign 0.00
R4923:Kif20b UTSW 19 34941211 critical splice acceptor site probably null
R5538:Kif20b UTSW 19 34952964 nonsense probably null
R5540:Kif20b UTSW 19 34938460 missense probably benign 0.01
R5558:Kif20b UTSW 19 34951549 missense probably damaging 1.00
R5580:Kif20b UTSW 19 34949728 splice site probably null
R5934:Kif20b UTSW 19 34941321 missense probably benign 0.02
R6019:Kif20b UTSW 19 34950464 missense probably benign 0.00
R6464:Kif20b UTSW 19 34934441 missense probably benign
R6613:Kif20b UTSW 19 34936984 nonsense probably null
R6745:Kif20b UTSW 19 34928876 missense possibly damaging 0.94
R7097:Kif20b UTSW 19 34974492 missense probably damaging 0.98
R7237:Kif20b UTSW 19 34950605 missense probably damaging 1.00
R7260:Kif20b UTSW 19 34950210 missense probably damaging 1.00
R7373:Kif20b UTSW 19 34935671 missense probably damaging 1.00
R7418:Kif20b UTSW 19 34929687 missense probably damaging 0.99
R7814:Kif20b UTSW 19 34950955 missense possibly damaging 0.63
R7861:Kif20b UTSW 19 34939922 missense probably damaging 1.00
R7944:Kif20b UTSW 19 34939922 missense probably damaging 1.00
Z1088:Kif20b UTSW 19 34950451 missense probably damaging 0.99
Posted On2017-10-20