Mutagenetix > Incidental Mutations

Incidental Mutation 'R5629:Stk32b'

441974

Institutional Source

Beutler Lab

Gene Symbol

Stk32b

Ensembl Gene

ENSMUSG00000029123

Gene Name

serine/threonine kinase 32B

Synonyms

YANK2, 2510009F08Rik, Stk32, STKG6

MMRRC Submission

043280-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R5629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37457232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 311 (P311S)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

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

AlphaFold

Q9JJX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094836
AA Change: P311S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: P311S

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: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,857,163	D189N	probably benign	Het
Adamts9	A	T	6: 92,798,133	V1052D	probably damaging	Het
Apob	T	C	12: 8,007,847	Y2077H	probably damaging	Het
Apol7e	A	T	15: 77,718,076	K291N	probably benign	Het
Arsk	A	T	13: 76,093,908	I82N	probably damaging	Het
Art1	A	G	7: 102,107,079	Q159R	probably benign	Het
Atp2a2	A	G	5: 122,460,096	V733A	probably damaging	Het
Btn2a2	A	T	13: 23,481,960		probably null	Het
Catsper1	C	T	19: 5,336,137	P133S	probably benign	Het
Celsr3	A	G	9: 108,849,067	D3165G	probably benign	Het
Cldn19	T	A	4: 119,256,919	V86E	probably damaging	Het
Ctnna1	T	A	18: 35,249,749	D649E	probably benign	Het
Cttnbp2	A	G	6: 18,405,218	I1094T	probably damaging	Het
Ddx24	T	C	12: 103,425,547		probably benign	Het
Ern2	T	A	7: 122,170,166	H879L	probably damaging	Het
Etv4	T	A	11: 101,771,925	H277L	probably damaging	Het
Faap100	G	T	11: 120,377,011	A312D	probably damaging	Het
Glipr1l1	G	A	10: 112,078,403	C223Y	possibly damaging	Het
Gna14	T	C	19: 16,436,733	S14P	possibly damaging	Het
Hapln1	A	G	13: 89,601,515	T60A	probably damaging	Het
Hars2	T	A	18: 36,788,666	Y273*	probably null	Het
Ighv5-6	A	T	12: 113,625,622	Y79*	probably null	Het
Iqgap2	T	A	13: 95,632,174	N1406I	probably damaging	Het
Kalrn	T	C	16: 34,039,934	T215A	possibly damaging	Het
Krtap13-1	T	A	16: 88,729,159	S90R	probably benign	Het
Mettl8	T	C	2: 70,965,569	I372V	probably benign	Het
Mfn1	A	T	3: 32,561,510	T341S	possibly damaging	Het
Mocos	T	A	18: 24,664,085		probably null	Het
Muc5b	T	C	7: 141,861,299	S2661P	possibly damaging	Het
Myo15	C	T	11: 60,479,752	P1113S	probably benign	Het
Myo5a	A	T	9: 75,203,845	I1540F	possibly damaging	Het
Myoc	T	C	1: 162,648,587	Y287H	probably damaging	Het
Napepld	A	G	5: 21,675,903	F165L	probably benign	Het
Ndufb10	T	C	17: 24,722,682	E102G	probably damaging	Het
Nrros	T	A	16: 32,144,405	I265F	probably damaging	Het
Nrxn1	A	T	17: 90,590,032	F891I	possibly damaging	Het
Nsfl1c	T	C	2: 151,504,165	Y169H	probably damaging	Het
Oas2	G	A	5: 120,738,451	Q476*	probably null	Het
Olfr561	A	T	7: 102,774,640	I39F	possibly damaging	Het
Pcnx2	C	A	8: 125,898,041	W14L	probably damaging	Het
Piwil2	C	T	14: 70,422,967	V70M	probably damaging	Het
Prss23	A	C	7: 89,510,192	V223G	probably damaging	Het
Rarres2	A	T	6: 48,570,260	L122Q	probably benign	Het
Robo1	T	C	16: 72,983,710	V776A	probably benign	Het
Robo3	G	A	9: 37,419,211	Q1008*	probably null	Het
Robo4	G	A	9: 37,408,362	C636Y	probably damaging	Het
Sacm1l	A	G	9: 123,566,399	M196V	probably benign	Het
Sept7	T	A	9: 25,288,293	Y163N	probably damaging	Het
Skint6	G	A	4: 113,012,979	T594I	possibly damaging	Het
Slc23a1	T	C	18: 35,626,492	H13R	probably benign	Het
Slc25a39	A	C	11: 102,404,893	Y109*	probably null	Het
Slc8a3	G	A	12: 81,199,631	R883C	probably damaging	Het
Spag17	A	T	3: 100,080,119	Y1575F	probably benign	Het
Spdye4c	T	A	2: 128,596,785	I321N	probably damaging	Het
Svs3a	T	A	2: 164,290,120	S203T	probably benign	Het
Taf3	A	T	2: 9,918,178	I45N	probably damaging	Het
Taf7	T	C	18: 37,643,502	N4S	probably benign	Het
Tial1	T	A	7: 128,444,697	D87V	probably damaging	Het
Tmem120a	T	A	5: 135,742,050	E78V	probably benign	Het
Tmem19	A	G	10: 115,347,260	F137L	probably benign	Het
Tmem55b	T	C	14: 50,927,916	H278R	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trim30d	T	C	7: 104,487,929	K23E	possibly damaging	Het
Ubxn7	C	A	16: 32,332,299	H4Q	unknown	Het
Usp40	C	T	1: 87,981,009	R590H	probably benign	Het
Vmn1r90	A	G	7: 14,562,086	M22T	possibly damaging	Het
Vmn2r1	G	A	3: 64,105,117	V800M	possibly damaging	Het
Vps11	A	T	9: 44,356,376	I313N	probably damaging	Het
Zhx1	A	G	15: 58,054,811	V13A	probably damaging	Het
Zic4	G	A	9: 91,378,752	R20H	probably benign	Het
Zp3r	C	T	1: 130,582,879	V369M	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCTGAAGTGTACCTTTGAATAAG -3'
(R):5'- GACTGTGTCTCTGAACCGATGG -3'

Sequencing Primer
(F):5'- ACCTTTGAATAAGAGGGGTCTGTCC -3'
(R):5'- CTCTGAACCGATGGTGTGTG -3'

Posted On

2016-11-08