Mutagenetix > Incidental Mutation

Incidental Mutation 'R6613:Kif20b'

523814

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

044736-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.900) question?

Stock #

R6613 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34899761-34953145 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 34914384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 390 (Q390*)

Ref Sequence

ENSEMBL: ENSMUSP00000153034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087341] [ENSMUST00000223907] [ENSMUST00000225408]

AlphaFold

Q80WE4

Predicted Effect

probably null
Transcript: ENSMUST00000087341
AA Change: Q390*

SMART Domains

Protein: ENSMUSP00000084599
Gene: ENSMUSG00000024795
AA Change: Q390*

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: Q390*

Predicted Effect

unknown
Transcript: ENSMUST00000224728
AA Change: T47I

Predicted Effect

probably benign
Transcript: ENSMUST00000225408

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.9%

Validation Efficiency

97% (37/38)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano2	G	A	6: 125,783,619 (GRCm39)		probably null	Het
Arfgef1	A	T	1: 10,264,621 (GRCm39)	I475N	possibly damaging	Het
Atg16l2	C	T	7: 100,939,788 (GRCm39)		probably null	Het
Atp2c2	T	G	8: 120,482,760 (GRCm39)	L874R	probably damaging	Het
C2cd3	T	A	7: 100,044,448 (GRCm39)	S343R	possibly damaging	Het
C4b	A	T	17: 34,952,539 (GRCm39)	S1167T	probably damaging	Het
Cacna1i	G	A	15: 80,205,460 (GRCm39)	G139S	probably damaging	Het
Chil6	A	T	3: 106,297,191 (GRCm39)	F317I	probably benign	Het
Cngb1	A	T	8: 95,992,638 (GRCm39)	V199E	possibly damaging	Het
Dcn	A	T	10: 97,330,902 (GRCm39)	T79S	probably benign	Het
Dcxr	A	G	11: 120,617,832 (GRCm39)	V48A	probably benign	Het
Dnajc13	A	T	9: 104,091,076 (GRCm39)	D668E	probably benign	Het
Dnajc28	C	A	16: 91,413,246 (GRCm39)	E357*	probably null	Het
Dock7	A	G	4: 98,866,197 (GRCm39)	Y1198H	probably damaging	Het
Flot1	A	G	17: 36,136,703 (GRCm39)	D167G	probably damaging	Het
Gpn1	T	C	5: 31,654,696 (GRCm39)		probably null	Het
Hyou1	A	T	9: 44,293,795 (GRCm39)	I242F	probably damaging	Het
Igfbpl1	T	C	4: 45,813,447 (GRCm39)	N256S	probably benign	Het
Lhfpl2	T	A	13: 94,311,003 (GRCm39)	F91Y	probably damaging	Het
Magi1	G	A	6: 93,722,654 (GRCm39)	T408I	probably damaging	Het
Mttp	T	C	3: 137,814,839 (GRCm39)	N479D	probably damaging	Het
Myom3	T	C	4: 135,539,770 (GRCm39)	V1339A	possibly damaging	Het
Nin	T	C	12: 70,077,728 (GRCm39)	K1733E	probably damaging	Het
Or5k1	C	A	16: 58,617,894 (GRCm39)	C105F	probably damaging	Het
Pdzrn4	T	C	15: 92,575,455 (GRCm39)	I287T	probably damaging	Het
Ptprt	A	G	2: 161,372,367 (GRCm39)	V1435A	probably damaging	Het
Rpap3	T	C	15: 97,579,722 (GRCm39)		probably null	Het
Scin	A	G	12: 40,129,714 (GRCm39)	Y360H	probably benign	Het
Sfxn5	A	G	6: 85,246,890 (GRCm39)		probably null	Het
Sgo1	A	G	17: 53,986,085 (GRCm39)	S369P	probably damaging	Het
Skil	T	A	3: 31,152,029 (GRCm39)	C184S	probably null	Het
Srcin1	A	G	11: 97,424,653 (GRCm39)	M607T	possibly damaging	Het
Ssc5d	C	T	7: 4,936,292 (GRCm39)	P513S	possibly damaging	Het
Trip10	A	G	17: 57,562,197 (GRCm39)		probably null	Het
Vmn2r114	T	A	17: 23,529,220 (GRCm39)	Q294L	possibly damaging	Het
Zc3h12c	A	G	9: 52,027,412 (GRCm39)	V650A	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
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
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'- CACGTGGGCATTGAAATGG -3'
(R):5'- AAACGGGTTTCCAGAAAGTGC -3'

Sequencing Primer
(F):5'- TGGGCATTGAAATGGAATGATAATAC -3'
(R):5'- GATACACTTTCCCAGAGTC -3'

Posted On

2018-06-22