Mutagenetix > Incidental Mutations

Incidental Mutation 'R8948:Stk32b'

681443

Institutional Source

Beutler Lab

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: 0.098) question?

Stock #

R8948 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37454997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 348 (N348K)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

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

AlphaFold

Q9JJX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094836
AA Change: N348K

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: N348K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	G	T	3: 88,709,912	S506I	probably damaging	Het
Abat	T	C	16: 8,600,941	I102T	possibly damaging	Het
Abca9	T	C	11: 110,163,380		probably null	Het
Ago3	T	C	4: 126,350,322		probably null	Het
Akap1	G	T	11: 88,844,273	A75E	probably damaging	Het
Atad2b	C	A	12: 4,991,012	A227E	possibly damaging	Het
Bmpr1a	G	T	14: 34,441,191	H81N	possibly damaging	Het
Camkv	C	T	9: 107,947,097	T236I	probably damaging	Het
Ccdc30	T	C	4: 119,324,161	E601G	probably benign	Het
Ccin	G	A	4: 43,984,064	R157H	probably damaging	Het
Cdkn3	C	T	14: 46,767,323	P114L	probably damaging	Het
Col6a2	C	T	10: 76,610,693	G352D	probably damaging	Het
Csf2rb	A	T	15: 78,348,320	D609V	probably benign	Het
Ctc1	T	G	11: 69,026,349	Y110*	probably null	Het
D630023F18Rik	T	A	1: 65,108,740	N218I	probably damaging	Het
Dchs1	A	T	7: 105,759,005	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,290,439	D1901G	probably damaging	Het
Eddm3b	T	A	14: 51,116,653	S33T	probably damaging	Het
Efcc1	A	G	6: 87,751,786	T408A	probably benign	Het
Epas1	A	G	17: 86,827,492	T518A	probably benign	Het
Ergic2	A	T	6: 148,202,507	M84K	probably damaging	Het
Ergic3	T	C	2: 156,011,240	V201A	probably benign	Het
Espn	C	A	4: 152,138,821	W258L	probably damaging	Het
Gm45337	A	G	7: 142,144,080	S156P	unknown	Het
Hmcn2	T	C	2: 31,354,729	Y733H	probably damaging	Het
Itga2	C	T	13: 114,873,330	G363D	probably damaging	Het
Kcnk5	T	C	14: 20,141,978	R372G	probably benign	Het
Kif11	T	A	19: 37,398,154	D387E	probably damaging	Het
Lrrn2	A	C	1: 132,938,366	I390L	probably benign	Het
Map2	G	T	1: 66,380,525	R5L	probably damaging	Het
Muc16	C	T	9: 18,647,233	R2588K	unknown	Het
Olfr139	A	G	11: 74,044,956	F106S	possibly damaging	Het
Olfr1451	A	T	19: 12,999,081	I32F	probably damaging	Het
Olfr847	A	G	9: 19,374,966	I305T	probably benign	Het
Osbpl8	T	C	10: 111,267,669	I178T	probably damaging	Het
Perp	A	T	10: 18,853,578	I86F	possibly damaging	Het
Plpp1	A	T	13: 112,856,977	I149F	probably damaging	Het
Preb	A	G	5: 30,958,327	S220P	probably damaging	Het
Prrt4	T	C	6: 29,177,666	T35A	probably damaging	Het
Ror2	T	A	13: 53,131,996	I73F	possibly damaging	Het
Rpl36-ps4	A	G	17: 87,921,146	T40A	probably damaging	Het
Rsbn1	A	T	3: 103,961,514	H623L	possibly damaging	Het
Sap30	C	A	8: 57,487,422	A49S	possibly damaging	Het
Sf3b3	T	C	8: 110,823,443	T648A	probably benign	Het
Sh3pxd2a	T	C	19: 47,373,443	R83G	probably damaging	Het
Slc35e1	A	T	8: 72,492,198	I130N	probably damaging	Het
Smchd1	C	T	17: 71,436,772	R466Q	probably damaging	Het
Smgc	C	T	15: 91,838,362		probably benign	Het
Sult2a1	A	G	7: 13,796,417	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,733,559	M1L	probably damaging	Het
Telo2	A	G	17: 25,113,111	V161A	probably benign	Het
Tmed11	C	T	5: 108,777,427	R173H	probably damaging	Het
Trappc6a	G	A	7: 19,515,998		probably benign	Het
Twistnb	T	A	12: 33,433,527	Y93N	probably damaging	Het
Vmn2r5	A	T	3: 64,491,101	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,957,361	I259T	probably damaging	Het
Vps13a	A	G	19: 16,745,976	I286T	probably damaging	Het
Vsig10l	A	T	7: 43,468,199	I739F	possibly damaging	Het
Zfyve1	A	C	12: 83,548,028	V730G	probably benign	Het
Zfyve9	A	T	4: 108,642,091	D1284E	possibly damaging	Het
Zmym4	C	T	4: 126,864,267	R1498H	probably damaging	Het
Znhit2	A	T	19: 6,061,773	R183*	probably null	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
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
R8317:Stk32b	UTSW	5	37454975	missense	probably damaging	0.99
R8676:Stk32b	UTSW	5	37457159	missense	probably benign	0.00
R8795:Stk32b	UTSW	5	37649139	missense	probably damaging	0.98
R9192:Stk32b	UTSW	5	37629000	missense	probably damaging	1.00
V1024:Stk32b	UTSW	5	37457234	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTGACAGAGTCCATGGATG -3'
(R):5'- ACTCAGAAGCACATTTGTCTGC -3'

Sequencing Primer
(F):5'- AGTTCTCTTTAAGGATTTGGTCTTG -3'
(R):5'- GTCTGCAGACATAATTGCTGAACC -3'

Posted On

2021-08-31