Mutagenetix > Incidental Mutations

Incidental Mutation 'R0042:Stk32b'

15653

Institutional Source

Beutler Lab

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

YANK2, 2510009F08Rik, Stk32, STKG6

MMRRC Submission

038336-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0042 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37716748 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 13 (D13E)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

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

AlphaFold

Q9JJX8

Predicted Effect

probably benign
Transcript: ENSMUST00000094836
AA Change: D13E

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: D13E

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

0.0898

Coding Region Coverage

1x: 81.9%
3x: 73.7%
10x: 53.7%
20x: 34.5%

Validation Efficiency

94% (58/62)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	C	A	17: 25,947,982	E194*	probably null	Het
Abca1	C	T	4: 53,059,245		probably benign	Het
Adgrf3	A	G	5: 30,197,428	L534P	probably damaging	Het
Ank2	T	C	3: 126,936,631	D3568G	probably damaging	Het
Atr	T	A	9: 95,927,356		probably benign	Het
Ccnb2	A	G	9: 70,419,053	V34A	probably benign	Het
Dmxl1	C	A	18: 49,864,035	T466K	probably benign	Het
Eya1	T	C	1: 14,184,489	D373G	probably damaging	Het
Fam120a	A	G	13: 48,934,014	V290A	probably damaging	Het
Gpr179	C	T	11: 97,334,931	V2133I	probably benign	Het
Grb10	G	T	11: 11,936,798	H435Q	probably damaging	Het
Gzmm	T	C	10: 79,694,565	I190T	probably benign	Het
H2-Q3	A	G	17: 35,359,847		noncoding transcript	Het
Hspb7	A	G	4: 141,423,934	E129G	probably damaging	Het
Il17ra	T	C	6: 120,472,125		probably benign	Het
Itgb3	A	G	11: 104,667,140	T787A	possibly damaging	Het
Krt4	T	G	15: 101,922,752		probably benign	Het
Lgsn	C	T	1: 31,190,453	T85I	probably benign	Het
Metap1	C	T	3: 138,472,157	V217I	probably benign	Het
Mib2	A	T	4: 155,659,440	C48*	probably null	Het
Mroh4	T	A	15: 74,610,305	I768F	probably damaging	Het
Npas3	T	A	12: 54,048,841	D361E	probably damaging	Het
P4hb	G	A	11: 120,568,266	R134C	probably damaging	Het
Rbl1	A	G	2: 157,175,704		probably benign	Het
Rdh10	T	A	1: 16,108,036		probably benign	Het
Spata31	A	T	13: 64,922,563	I842L	probably benign	Het
Svep1	T	C	4: 58,123,192	D708G	possibly damaging	Het
Taar6	T	C	10: 23,985,123	D175G	probably benign	Het
Tmod4	T	C	3: 95,129,788	D164G	possibly damaging	Het
Ttc23l	A	C	15: 10,551,541	L33W	probably damaging	Het
Ttc39d	T	C	17: 80,215,950	Y13H	probably benign	Het
Utp18	G	T	11: 93,875,858	T309K	probably damaging	Het
Vps11	G	T	9: 44,356,291	Y341*	probably null	Het
Vsig8	T	C	1: 172,560,358	V5A	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
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
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
R8948:Stk32b	UTSW	5	37454997	missense	possibly damaging	0.87
R9192:Stk32b	UTSW	5	37629000	missense	probably damaging	1.00
V1024:Stk32b	UTSW	5	37457234	missense	probably damaging	1.00

Posted On

2012-12-21