Mutagenetix > Incidental Mutations

Incidental Mutation 'R6610:Stk32b'

525882

Institutional Source

Beutler Lab

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

YANK2, 2510009F08Rik, Stk32, STKG6

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R6610 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37448678 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 407 (T407I)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000094836
AA Change: T407I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: T407I

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

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (42/42)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	T	9: 21,526,265	M1L	probably benign	Het
Adam26b	T	C	8: 43,521,153	K271E	probably damaging	Het
Ankrd44	A	G	1: 54,655,087	I914T	probably benign	Het
Atp12a	A	G	14: 56,374,556	R396G	probably damaging	Het
C2cd3	A	G	7: 100,455,298	K2173E	probably benign	Het
Cbx2	A	G	11: 119,024,210	D51G	probably damaging	Het
Ccdc33	T	A	9: 58,069,136	T532S	possibly damaging	Het
Ccnt1	T	C	15: 98,565,101	I63M	probably damaging	Het
Cdc20b	C	T	13: 113,064,262	T172I	probably benign	Het
Ces2f	T	G	8: 104,950,106		probably null	Het
Cfh	A	T	1: 140,101,748	C597*	probably null	Het
Cntnap2	A	T	6: 46,015,257	T373S	probably benign	Het
Cyb5r4	T	G	9: 87,059,417	C64G	probably benign	Het
Cyp2c23	A	G	19: 44,007,081	F416L	probably damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Eif4e1b	A	G	13: 54,784,315		probably benign	Het
Etl4	G	A	2: 20,713,369	R256K	probably damaging	Het
Fhad1	A	G	4: 141,916,396	L1054P	possibly damaging	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Grik1	A	G	16: 88,034,312	I190T	probably damaging	Het
Gsdmc2	T	C	15: 63,825,008	N438S	probably benign	Het
Igkv15-103	A	T	6: 68,437,633	R19*	probably null	Het
Ikbkap	A	G	4: 56,758,236	V1227A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Lhcgr	A	T	17: 88,769,879	I93K	possibly damaging	Het
Muc6	G	C	7: 141,640,433		probably benign	Het
Mymk	G	T	2: 27,067,393	S29R	possibly damaging	Het
Nab2	A	T	10: 127,664,338	I295N	probably damaging	Het
Neu2	A	T	1: 87,596,685	T131S	probably benign	Het
Pdcd7	T	A	9: 65,354,683	M129K	possibly damaging	Het
Ptar1	A	G	19: 23,717,844	H225R	probably benign	Het
Pygb	T	A	2: 150,823,966		probably null	Het
Rpap3	T	C	15: 97,688,168	D314G	probably benign	Het
Scara3	A	G	14: 65,931,221	S316P	probably damaging	Het
Sec24a	C	T	11: 51,696,656	V1051I	probably benign	Het
Setdb1	G	T	3: 95,328,577	A841D	probably damaging	Het
Tcte2	G	A	17: 13,727,988	Q10*	probably null	Het
Tgm2	C	A	2: 158,143,100	E29*	probably null	Het
Trim32	G	A	4: 65,615,071	V622M	probably damaging	Het
Ttn	G	A	2: 76,749,329	T23740M	probably damaging	Het
Tyk2	G	T	9: 21,108,016	Q1014K	probably benign	Het
Vmn1r123	A	G	7: 21,162,590	N136D	probably benign	Het
Vmn2r31	A	T	7: 7,384,589	V661E	probably damaging	Het
Vmn2r85	A	T	10: 130,425,969	F166L	probably damaging	Het
Zfp426	T	C	9: 20,473,093	K98R	probably damaging	Het
Zfp534	C	T	4: 147,674,490	R574K	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
R6042:Stk32b	UTSW	5	37649114	missense	probably damaging	0.99
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'- AGTTTACATATCTGCAGTCCAACC -3'
(R):5'- ACCATCATGTAGCTGCATCC -3'

Sequencing Primer
(F):5'- GTGATTTGCTCAAGGTCACACAGC -3'
(R):5'- TGCATCCAGCCCACCAC -3'

Posted On

2018-06-22