Mutagenetix > Incidental Mutations

Incidental Mutation 'R6042:Stk32b'

483605

Institutional Source

Beutler Lab

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

YANK2, 2510009F08Rik, Stk32, STKG6

MMRRC Submission

044210-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R6042 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37649114 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 29 (I29F)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094836
AA Change: I29F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: I29F

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,177,249	K478M	probably benign	Het
Ankar	G	T	1: 72,674,054	S474*	probably null	Het
Barx2	C	A	9: 31,846,903	E246D	probably benign	Het
Cdh7	A	T	1: 110,138,267	Q757L	probably damaging	Het
Cnr1	T	C	4: 33,944,751	F380L	probably damaging	Het
Cntnap5b	G	A	1: 100,390,592	A655T	probably benign	Het
Col2a1	T	A	15: 98,000,570		probably benign	Het
Crybg3	C	T	16: 59,550,475	R2340Q	possibly damaging	Het
Ctsb	G	T	14: 63,141,856	D306Y	probably damaging	Het
Cyp2a22	A	C	7: 26,934,239	Y349D	probably damaging	Het
Dcpp2	T	C	17: 23,898,912	L22S	probably damaging	Het
Dnah8	G	T	17: 30,747,265	M2476I	probably damaging	Het
Dst	A	G	1: 34,188,972	E1882G	probably damaging	Het
Esrp1	T	C	4: 11,357,580	K511E	possibly damaging	Het
Fat3	T	A	9: 16,377,817	T137S	probably benign	Het
Fbxw24	T	A	9: 109,607,011	M318L	probably benign	Het
Fpr-rs7	T	A	17: 20,113,215	T338S	probably benign	Het
Gcgr	T	C	11: 120,534,758	M1T	probably null	Het
Gm13101	G	T	4: 143,966,061	D123E	probably benign	Het
Grifin	C	A	5: 140,563,556	R135L	possibly damaging	Het
Helz	T	C	11: 107,614,120		probably null	Het
Hivep3	C	G	4: 120,097,864	Q1126E	possibly damaging	Het
Htr3a	T	A	9: 48,904,699	H146L	probably damaging	Het
Lama3	T	A	18: 12,574,254	V3081E	probably damaging	Het
Mgat5	T	A	1: 127,459,899	C531S	probably damaging	Het
Micalcl	A	G	7: 112,380,412	D106G	probably benign	Het
Nectin2	C	T	7: 19,738,138	A109T	probably benign	Het
Olfr1431	A	T	19: 12,209,922	M119L	probably damaging	Het
Olfr887	T	A	9: 38,085,094	V86E	probably damaging	Het
Olig3	T	C	10: 19,356,755	S43P	probably damaging	Het
Pcdh12	T	C	18: 38,281,505	R856G	probably damaging	Het
Phpt1	T	A	2: 25,574,839	M1L	probably benign	Het
Polr2m	T	C	9: 71,483,798	I41V	probably damaging	Het
Pzp	A	G	6: 128,524,014	V127A	possibly damaging	Het
Rgs7	G	T	1: 175,149,660	T126K	probably damaging	Het
RP23-399J5.1	T	C	8: 71,089,927		noncoding transcript	Het
Rras	A	T	7: 45,020,396	D112V	probably damaging	Het
Sdcbp2	T	A	2: 151,582,726	Y5*	probably null	Het
Slc43a2	T	C	11: 75,570,607	F462L	probably damaging	Het
Smchd1	T	A	17: 71,377,057	K1436*	probably null	Het
Snrnp27	A	C	6: 86,682,920	S31A	unknown	Het
Sqstm1	A	C	11: 50,207,424	F172V	probably benign	Het
Syt10	G	A	15: 89,841,621	T50I	probably benign	Het
Syt16	T	C	12: 74,266,730	Y477H	probably damaging	Het
Tacr3	A	T	3: 134,932,392	T437S	probably benign	Het
Tg	G	A	15: 66,683,993	D845N	probably benign	Het
Uqcc1	G	T	2: 155,921,644	S36R	possibly damaging	Het
Vmn1r20	T	C	6: 57,432,406	V239A	possibly damaging	Het
Xpo7	T	A	14: 70,695,663	Q263L	possibly damaging	Het
Zfp442	T	C	2: 150,408,096	K572E	probably damaging	Het
Zswim5	A	C	4: 116,962,621	S408R	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCGCCTAAGCACAGACTCTG -3'
(R):5'- AATGTCCTTCATCTGTCAGCG -3'

Sequencing Primer
(F):5'- GAAACCATGAAGGCTTCCTTTC -3'
(R):5'- ATCTGTCAGCGCCTCAGC -3'

Posted On

2017-07-14