Mutagenetix > Incidental Mutations

Incidental Mutation 'R8317:Stk32b'

641736

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: 0.078) question?

Stock #

R8317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37446825-37717171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37454975 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 356 (E356K)

Ref Sequence

ENSEMBL: ENSMUSP00000092432 (fasta)

Gene Model

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

AlphaFold

Q9JJX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000094836
AA Change: E356K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: E356K

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: 99.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	C	5: 98,737,600	H122P	probably benign	Het
1700029P11Rik	A	G	15: 81,980,777	Y73C	probably damaging	Het
Adgrv1	C	T	13: 81,575,117	V621M	probably damaging	Het
Adipor1	C	T	1: 134,428,167	R235W	probably benign	Het
Agbl1	T	A	7: 76,422,181	M594K	unknown	Het
Als2cr12	T	C	1: 58,676,548	K170E	possibly damaging	Het
Ang2	A	G	14: 51,195,892	V11A	probably benign	Het
BC027072	A	C	17: 71,749,202	L1160R	probably benign	Het
Ccl25	A	G	8: 4,354,138	N80S	probably benign	Het
Cd19	A	T	7: 126,413,443	C259*	probably null	Het
Cd209b	A	T	8: 3,922,018	I177N	probably damaging	Het
Cdc20	C	A	4: 118,437,126		probably benign	Het
Cdh23	A	T	10: 60,311,258		probably null	Het
Cdh23	G	A	10: 60,436,789	R536W	probably damaging	Het
Chd6	T	C	2: 160,990,321	D977G	probably damaging	Het
Csl	T	G	10: 99,759,038	H55P	probably damaging	Het
Cstf2t	G	A	19: 31,084,248	A395T	probably benign	Het
Dhx58	A	T	11: 100,703,562	I101N	probably damaging	Het
Dlg5	A	C	14: 24,191,230	S200A	probably damaging	Het
Epb41	C	A	4: 131,957,650	G86V		Het
Fat4	T	C	3: 38,958,510	V2318A	possibly damaging	Het
Fbxo32	A	T	15: 58,205,230	F119I	probably damaging	Het
Fndc1	A	T	17: 7,800,888	L153*	probably null	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,905		probably benign	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 142,273,816		probably benign	Het
Gpr63	A	T	4: 25,008,223	T316S	probably damaging	Het
Ick	T	A	9: 78,153,651	V193E	probably damaging	Het
Il16	T	C	7: 83,655,330	T665A	probably benign	Het
Lama5	T	C	2: 180,206,991	N272S	probably damaging	Het
Map3k1	T	C	13: 111,758,162	Y660C	probably damaging	Het
Mbd3l1	C	A	9: 18,484,821	L81I	probably benign	Het
Morc3	C	A	16: 93,862,529	Q442K	probably benign	Het
Muc16	G	A	9: 18,658,043	T1060I	unknown	Het
Myh11	T	A	16: 14,208,077	D1343V		Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Nbn	T	G	4: 15,970,893	L292W	probably damaging	Het
Nebl	A	G	2: 17,350,757	M195T	possibly damaging	Het
Net1	T	C	13: 3,907,856	K66E	possibly damaging	Het
Nod1	T	C	6: 54,943,440	Y631C	probably damaging	Het
Nxf1	A	G	19: 8,771,043	H12R	probably benign	Het
Onecut3	T	C	10: 80,495,327	L107P	unknown	Het
Opa1	T	G	16: 29,614,144	I512S	probably damaging	Het
P3h3	C	T	6: 124,855,153	G257R	probably damaging	Het
Pappa2	A	G	1: 158,764,960	C1616R	probably damaging	Het
Parn	T	G	16: 13,541,100	K593Q	probably damaging	Het
Polr3g	T	C	13: 81,678,183	K173R	unknown	Het
Prcp	A	G	7: 92,875,390	T18A	probably benign	Het
Sash1	G	A	10: 8,729,386	T1080M	possibly damaging	Het
Skap2	A	G	6: 51,907,885		probably null	Het
Srebf1	C	A	11: 60,200,657	S1014I	possibly damaging	Het
Tex37	C	A	6: 70,913,292	W172L	possibly damaging	Het
Tjp3	T	A	10: 81,280,490	T257S	probably benign	Het
Trf	A	G	9: 103,217,516	Y448H	probably damaging	Het
Tsnaxip1	G	C	8: 105,827,806	R7P	probably benign	Het
Vmn1r208	G	C	13: 22,772,777	I183M	probably benign	Het
Vmn2r67	T	A	7: 85,136,626	M724L	probably benign	Het
Wdhd1	A	T	14: 47,263,537	H469Q	probably damaging	Het
Zbtb7a	G	C	10: 81,144,950	G326A	probably benign	Het
Zfp493	G	A	13: 67,783,839	R19H	probably benign	Het
Zfp932	A	T	5: 110,009,056	K207*	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
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'- TAGGGGTGACAGAGTCCATG -3'
(R):5'- CAGAAGCACATTTGTCTGCAGAC -3'

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

Posted On

2020-07-28