Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03493:Kif20b'

490722

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif20b

Ensembl Gene

ENSMUSG00000024795

Gene Name

kinesin family member 20B

Synonyms

C330014J10Rik, magoo, Kif20b, N-6 kinesin, Mphosph1, 33cex

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

IGL03493

Quality Score

Status

Chromosome

Chromosomal Location

34899761-34953145 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 34936950 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q80WE4

Predicted Effect

probably null
Transcript: ENSMUST00000087341
AA Change: C1448*

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: C1448*

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoart1	G	A	4: 72,769,884 (GRCm39)	T253I	probably damaging	Het
Ampd2	T	C	3: 107,982,674 (GRCm39)	E694G	probably damaging	Het
Atcay	C	A	10: 81,046,407 (GRCm39)	E306*	probably null	Het
Atp13a5	G	T	16: 29,116,342 (GRCm39)	D546E	probably benign	Het
C2cd2	T	C	16: 97,682,861 (GRCm39)	D125G	probably damaging	Het
Col23a1	T	C	11: 51,455,632 (GRCm39)		probably null	Het
Col9a1	T	A	1: 24,260,651 (GRCm39)		probably benign	Het
Cyp4a31	T	A	4: 115,427,952 (GRCm39)		probably null	Het
Dnah11	G	A	12: 117,976,533 (GRCm39)	R2708C	probably benign	Het
Dzip3	T	C	16: 48,772,059 (GRCm39)	I537V	probably benign	Het
Ezh1	T	C	11: 101,094,617 (GRCm39)	T392A	probably benign	Het
Hsd17b14	A	T	7: 45,205,515 (GRCm39)	D42V	probably damaging	Het
Hsf2	A	T	10: 57,381,462 (GRCm39)	I294F	probably damaging	Het
Ibtk	G	T	9: 85,600,972 (GRCm39)	S797R	probably benign	Het
Lnpep	G	T	17: 17,799,433 (GRCm39)	A74E	probably damaging	Het
Map4k1	A	T	7: 28,683,576 (GRCm39)		probably benign	Het
Matn1	A	G	4: 130,677,309 (GRCm39)	R173G	probably benign	Het
Nyap1	A	G	5: 137,733,278 (GRCm39)	I585T	probably damaging	Het
Or13a27	A	T	7: 139,925,066 (GRCm39)	Y279N	probably damaging	Het
Or52e7	A	G	7: 104,685,151 (GRCm39)	T249A	probably damaging	Het
Or5d39	G	A	2: 87,980,280 (GRCm39)	P28S	probably benign	Het
Phactr2	A	G	10: 13,133,413 (GRCm39)	V190A	probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Rad51c	A	T	11: 87,288,579 (GRCm39)	H201Q	probably benign	Het
Sec63	C	A	10: 42,704,937 (GRCm39)	D730E	probably benign	Het
Smarcc2	A	G	10: 128,297,226 (GRCm39)	I39M	probably damaging	Het
Trav2	A	G	14: 52,804,745 (GRCm39)		probably benign	Het
Ugt3a1	A	G	15: 9,361,569 (GRCm39)	Y115C	probably damaging	Het
Zfp955b	T	G	17: 33,521,519 (GRCm39)	H329Q	probably benign	Het

Other mutations in Kif20b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2017-10-20