Mutagenetix > Incidental Mutations

Incidental Mutation 'R0879:Stk32b'

81916

Institutional Source

Beutler Lab

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

YANK2, 2510009F08Rik, Stk32, STKG6

MMRRC Submission

039046-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R0879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 37459596 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094836]

Predicted Effect

probably benign
Transcript: ENSMUST00000094836

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123

Domain	Start	End	E-Value	Type
S_TKc	23	283	1.18e-84	SMART
low complexity region	323	336	N/A	INTRINSIC

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.9%
20x: 96.3%

Validation Efficiency

100% (41/41)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,617,610		probably benign	Het
Adm	A	G	7: 110,628,352	D25G	possibly damaging	Het
Adprhl2	C	T	4: 126,316,617	V357I	probably benign	Het
Akap6	G	T	12: 52,880,799	R164L	probably damaging	Het
Baz2a	A	G	10: 128,121,304	N972S	probably damaging	Het
Brd2	A	T	17: 34,113,446	V232D	probably benign	Het
C6	A	G	15: 4,763,336		probably benign	Het
Ceacam5	A	C	7: 17,757,702	I666L	probably benign	Het
Col7a1	T	C	9: 108,976,091		probably benign	Het
Dnah17	C	T	11: 118,056,835		probably benign	Het
Dnah7a	A	T	1: 53,427,860	V3615E	possibly damaging	Het
Eml6	A	G	11: 29,850,816		probably null	Het
Enpp2	T	C	15: 54,877,930	E324G	probably damaging	Het
Fgd4	A	G	16: 16,477,449	V222A	probably damaging	Het
Gm4076	A	G	13: 85,127,207		noncoding transcript	Het
Gm4775	T	C	14: 106,100,793		noncoding transcript	Het
Igsf9b	T	C	9: 27,333,742	S1002P	probably damaging	Het
Jag1	A	G	2: 137,100,081	S244P	possibly damaging	Het
Klhl41	A	T	2: 69,683,483		probably benign	Het
Ltbr	A	G	6: 125,313,375		probably benign	Het
Megf8	A	G	7: 25,338,471	E804G	possibly damaging	Het
Mybpc1	G	A	10: 88,571,516		probably benign	Het
Npas4	T	C	19: 4,986,916	R407G	probably benign	Het
Oxnad1	T	A	14: 32,099,596	Y213N	probably damaging	Het
Pde6d	A	G	1: 86,545,801	F91S	probably benign	Het
Pelp1	A	G	11: 70,395,297		probably benign	Het
Plscr2	T	C	9: 92,287,793	Y99H	probably damaging	Het
Rft1	T	C	14: 30,682,748		probably benign	Het
Ryr3	T	C	2: 113,030,243	Y30C	probably benign	Het
Selenbp2	A	G	3: 94,699,556	T108A	possibly damaging	Het
Stra6	T	C	9: 58,135,204		probably null	Het
Usp17le	A	T	7: 104,769,647	L96Q	probably damaging	Het
Usp17le	G	T	7: 104,769,648	L96M	possibly damaging	Het
Vmn1r76	A	T	7: 11,930,735	I184N	probably benign	Het
Vmn2r102	T	C	17: 19,694,192	V673A	probably damaging	Het
Wdr17	T	G	8: 54,661,481	I667L	probably benign	Het
Zfp292	T	C	4: 34,811,218	T609A	probably benign	Het
Zfp821	T	C	8: 109,721,842	I135T	possibly damaging	Het
Zfp865	A	G	7: 5,031,343	T776A	probably benign	Het
Zp2	G	T	7: 120,135,534	P477Q	probably damaging	Het

Other mutations in Stk32b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02166:Stk32b	APN	5	37499030	splice site	probably benign
IGL02525:Stk32b	APN	5	37531633	missense	probably damaging	1.00
IGL02946:Stk32b	APN	5	37531539	splice site	probably benign
IGL03277:Stk32b	APN	5	37628976	missense	probably damaging	0.99
flank	UTSW	5	37466781	missense	probably damaging	1.00
H8441:Stk32b	UTSW	5	37457234	missense	probably damaging	1.00
R0042:Stk32b	UTSW	5	37716748	missense	probably benign	0.09
R0042:Stk32b	UTSW	5	37716748	missense	probably benign	0.09
R0051:Stk32b	UTSW	5	37459596	splice site	probably benign
R0051:Stk32b	UTSW	5	37459596	splice site	probably benign
R0062:Stk32b	UTSW	5	37461448	missense	probably damaging	1.00
R0062:Stk32b	UTSW	5	37461448	missense	probably damaging	1.00
R0601:Stk32b	UTSW	5	37531566	missense	probably damaging	1.00
R1812:Stk32b	UTSW	5	37466758	missense	probably damaging	1.00
R1882:Stk32b	UTSW	5	37531687	missense	possibly damaging	0.91
R1982:Stk32b	UTSW	5	37649114	missense	probably damaging	0.99
R3899:Stk32b	UTSW	5	37457154	missense	probably damaging	1.00
R4724:Stk32b	UTSW	5	37454934	critical splice donor site	probably null
R4885:Stk32b	UTSW	5	37466797	missense	probably damaging	1.00
R5531:Stk32b	UTSW	5	37459734	splice site	probably null
R5629:Stk32b	UTSW	5	37457232	missense	probably damaging	1.00
R6042:Stk32b	UTSW	5	37649114	missense	probably damaging	0.99
R6610:Stk32b	UTSW	5	37448678	missense	probably benign	0.04
R6864:Stk32b	UTSW	5	37448805	splice site	probably null
R6879:Stk32b	UTSW	5	37490523	missense	possibly damaging	0.77
R7186:Stk32b	UTSW	5	37466781	missense	probably damaging	1.00
R8317:Stk32b	UTSW	5	37454975	missense	probably damaging	0.99
V1024:Stk32b	UTSW	5	37457234	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCTTGGAAGTCTGGTCCACATAC -3'
(R):5'- TGAGTTGACCTTGAAGTCCCTCCC -3'

Sequencing Primer
(F):5'- AGTCTGGTCCACATACCCTGG -3'
(R):5'- GAGGAGTCATGTTCCAAGTCC -3'

Posted On

2013-11-08