Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03029:Kif20b'

408345

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: 0.904) question?

Stock #

IGL03029

Quality Score

Status

Chromosome

Chromosomal Location

34899761-34953145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34928313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1152 (T1152A)

Ref Sequence

ENSEMBL: ENSMUSP00000153034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000223937]

AlphaFold

Q80WE4

Predicted Effect

probably benign
Transcript: ENSMUST00000087341
AA Change: T1192A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: T1192A

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 benign
Transcript: ENSMUST00000223907
AA Change: T1152A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000223937

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	A	9: 106,312,314 (GRCm39)	D213V	probably damaging	Het
Akap6	T	C	12: 52,933,195 (GRCm39)	L229P	probably damaging	Het
Ankrd10	A	T	8: 11,669,304 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,206,851 (GRCm39)	E246K	probably damaging	Het
Cadps	G	T	14: 12,376,675 (GRCm38)	T1274K	probably damaging	Het
Cd46	T	C	1: 194,768,451 (GRCm39)	T89A	probably benign	Het
Cylc1	A	C	X: 110,156,944 (GRCm39)		probably benign	Het
Dach2	T	A	X: 112,724,833 (GRCm39)	L492*	probably null	Het
Dlc1	T	C	8: 37,038,416 (GRCm39)		probably null	Het
Fanci	T	C	7: 79,093,747 (GRCm39)	V1033A	probably benign	Het
Fat4	T	C	3: 39,036,740 (GRCm39)	I3464T	possibly damaging	Het
Fus	A	G	7: 127,584,712 (GRCm39)		probably benign	Het
Garin5b	G	T	7: 4,760,839 (GRCm39)	N624K	possibly damaging	Het
Hectd3	G	T	4: 116,854,162 (GRCm39)	E271*	probably null	Het
Herc2	T	C	7: 55,818,715 (GRCm39)	L2802P	probably damaging	Het
Hk2	G	A	6: 82,715,314 (GRCm39)	R407C	probably damaging	Het
Josd2	T	C	7: 44,120,601 (GRCm39)	S71P	probably damaging	Het
Myo15b	G	A	11: 115,762,469 (GRCm39)	V1229I	probably benign	Het
Nup188	T	C	2: 30,212,592 (GRCm39)		probably benign	Het
Or1i2	T	A	10: 78,447,792 (GRCm39)	I228F	probably benign	Het
Pank1	T	A	19: 34,798,535 (GRCm39)	I476F	probably damaging	Het
Pdcd6	A	G	13: 74,457,899 (GRCm39)	Y91H	probably damaging	Het
Pik3r3	T	G	4: 116,156,998 (GRCm39)	V393G	probably damaging	Het
Poglut3	T	C	9: 53,295,588 (GRCm39)		probably null	Het
Prx	C	T	7: 27,207,486 (GRCm39)	R48*	probably null	Het
Rbm5	A	G	9: 107,631,652 (GRCm39)	S222P	possibly damaging	Het
Rev3l	T	A	10: 39,704,482 (GRCm39)	I302N	probably benign	Het
Rnf139	T	C	15: 58,770,967 (GRCm39)	F331L	probably damaging	Het
Shisa4	G	T	1: 135,300,914 (GRCm39)	Q119K	probably damaging	Het
Shisa6	T	A	11: 66,108,839 (GRCm39)	E346V	probably damaging	Het
Slc6a3	A	T	13: 73,686,816 (GRCm39)	E61V	probably damaging	Het
Slc9a7	T	A	X: 20,157,608 (GRCm39)	M106L	probably benign	Het
Srek1	A	G	13: 103,900,468 (GRCm39)		probably benign	Het
Strc	G	A	2: 121,194,525 (GRCm39)	L1788F	possibly damaging	Het
Styk1	T	C	6: 131,277,523 (GRCm39)	S284G	probably benign	Het
Top2a	T	A	11: 98,909,625 (GRCm39)	T158S	probably benign	Het
Vangl1	C	T	3: 102,091,400 (GRCm39)	V229M	probably damaging	Het
Vsig1	A	G	X: 139,827,261 (GRCm39)	T137A	possibly damaging	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
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
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

2016-08-02