Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02946:Stk32b'

364758

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

YANK2, 2510009F08Rik, Stk32, STKG6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL02946

Quality Score

Status

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 37531539 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

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 110,028,215		probably benign	Het
Actr3b	T	C	5: 25,848,483	I270T	possibly damaging	Het
Adgrf2	T	C	17: 42,710,493	Y480C	probably damaging	Het
Arhgap27	T	C	11: 103,338,348	T514A	probably damaging	Het
BC031181	C	T	18: 75,008,665		probably benign	Het
Cckbr	C	T	7: 105,434,031	A147V	probably damaging	Het
Ccm2	G	A	11: 6,596,195	R335H	probably damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Crabp1	T	C	9: 54,764,948	F16S	possibly damaging	Het
Crmp1	C	T	5: 37,284,080	A502V	probably damaging	Het
Ehhadh	A	T	16: 21,762,922	V440D	probably damaging	Het
Fam129a	A	T	1: 151,649,425	I194F	probably damaging	Het
Galnt3	T	A	2: 66,095,218	I392L	probably damaging	Het
Gm12689	T	A	4: 99,296,253	N114K	unknown	Het
Hspa2	A	G	12: 76,405,173	T214A	probably damaging	Het
Itga7	T	C	10: 128,934,083	I32T	probably benign	Het
Itgal	A	G	7: 127,314,368	S682G	probably damaging	Het
Kctd1	C	T	18: 14,973,979		probably null	Het
Lrp1b	T	A	2: 41,312,559	D439V	probably damaging	Het
Mdn1	A	G	4: 32,734,366	K3258E	probably damaging	Het
Mgat4c	T	C	10: 102,389,253	S443P	probably benign	Het
Mylk	G	A	16: 34,921,788	G890E	probably benign	Het
Mylk2	T	A	2: 152,919,210	L446*	probably null	Het
Olfr1395	T	G	11: 49,148,892	F212V	probably damaging	Het
Pi4k2b	T	C	5: 52,753,207	F278L	probably damaging	Het
Pitpnm3	A	G	11: 72,092,552	S84P	probably benign	Het
Plxna2	T	C	1: 194,749,309		probably benign	Het
Prr5l	C	A	2: 101,772,184		probably null	Het
Ptprs	T	C	17: 56,424,032	T719A	probably benign	Het
Rasa3	T	C	8: 13,598,280	H128R	probably benign	Het
Rhox13	A	G	X: 38,129,775	K205E	probably damaging	Het
Rif1	C	A	2: 52,110,125	S1197*	probably null	Het
Sgta	A	G	10: 81,049,778		probably benign	Het
Slc25a5	T	A	X: 36,797,853	M239K	probably damaging	Het
Stil	T	A	4: 115,029,913	H734Q	probably benign	Het
Ubr4	T	G	4: 139,425,295	F1999C	probably damaging	Het
Wfdc2	A	C	2: 164,564,089	T86P	probably benign	Het
Zfp407	T	C	18: 84,560,709	S760G	probably damaging	Het
Zfp668	A	T	7: 127,866,518	L498Q	possibly 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
IGL03277:Stk32b	APN	5	37628976	missense	probably damaging	0.99
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
R0879:Stk32b	UTSW	5	37459596	splice site	probably benign
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
V1024:Stk32b	UTSW	5	37457234	missense	probably damaging	1.00

Posted On

2015-12-18