Mutagenetix > Incidental Mutation

Incidental Mutation 'R9481:Stk32c'

716247

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

YANK3, Pkek

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9481 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

139103638-139213307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139188257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 36 (P36L)

Ref Sequence

ENSEMBL: ENSMUSP00000016125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016125] [ENSMUST00000165870]

AlphaFold

Q8QZV4

Predicted Effect

unknown
Transcript: ENSMUST00000016125
AA Change: P36L

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: P36L

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
low complexity region	32	48	N/A	INTRINSIC
low complexity region	62	80	N/A	INTRINSIC
S_TKc	94	354	9.16e-82	SMART
low complexity region	398	407	N/A	INTRINSIC
low complexity region	408	418	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165870

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	232	1.2e-30	PFAM
Pfam:Pkinase	1	235	1.5e-51	PFAM
Pfam:Kinase-like	12	223	6.2e-13	PFAM
low complexity region	280	289	N/A	INTRINSIC
low complexity region	290	300	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Acsf2	C	T	11: 94,573,218	V47M	probably benign	Het
Ahcyl1	A	T	3: 107,672,072	C215*	probably null	Het
Ambn	G	T	5: 88,465,191		probably null	Het
Apol9b	G	T	15: 77,735,456	V151L	probably benign	Het
Arid1b	A	G	17: 5,318,732	Y1070C	probably damaging	Het
Arnt	T	C	3: 95,483,781	L322P	possibly damaging	Het
Bdnf	A	G	2: 109,723,590	D103G	possibly damaging	Het
Ccdc9	A	T	7: 16,282,836	D42E	probably damaging	Het
Cdh13	A	G	8: 119,236,937	T419A		Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Clasp2	A	T	9: 113,841,601	R329W	probably damaging	Het
Csmd3	A	G	15: 47,607,063	C2495R		Het
Cyba	A	T	8: 122,427,655	I43N	possibly damaging	Het
Cyp2a5	A	C	7: 26,841,086	T375P	possibly damaging	Het
Cyp2r1	A	G	7: 114,553,134	F196S	probably damaging	Het
Efcab2	T	C	1: 178,481,322	F130S	probably damaging	Het
Eml6	T	G	11: 29,838,641		probably null	Het
Fbln5	A	T	12: 101,768,469	C181*	probably null	Het
Glyatl3	A	G	17: 40,910,125	V117A	probably benign	Het
Gm7534	G	A	4: 134,202,001	P331L	probably benign	Het
Gpc6	A	G	14: 116,926,020	S29G	probably benign	Het
Hadhb	T	G	5: 30,163,713	S13A	probably benign	Het
Hook1	C	T	4: 96,013,268	R488C	probably damaging	Het
Icam5	A	G	9: 21,037,581	Y743C	probably damaging	Het
Il15ra	T	C	2: 11,720,043	V108A	probably benign	Het
Itga1	T	C	13: 115,016,217	N223S	probably benign	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,662,349		probably benign	Het
Kcnk1	T	C	8: 126,029,542	C268R	probably damaging	Het
Kctd19	A	T	8: 105,393,617	L264M	probably benign	Het
Kmt2c	A	T	5: 25,292,909	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,349,862	I1258K	probably benign	Het
Lyst	G	A	13: 13,683,068	E2481K	possibly damaging	Het
Megf10	T	A	18: 57,262,018	I484N	probably benign	Het
Mettl21e	T	C	1: 44,206,697	I130V	probably benign	Het
Nmnat2	C	A	1: 153,086,435	N140K	possibly damaging	Het
Nsmaf	T	C	4: 6,414,976	K630R	probably benign	Het
Olfr1138	A	T	2: 87,738,232	F31I	probably benign	Het
Olfr31	C	T	14: 14,328,756	S215L	probably benign	Het
Olfr885	G	T	9: 38,061,411	L30F	probably benign	Het
Olfr943	T	C	9: 39,184,876	S230P	possibly damaging	Het
Pafah1b2	G	A	9: 45,972,986	Q123*	probably null	Het
Ptprb	T	A	10: 116,319,448	N415K	probably benign	Het
Rev3l	T	A	10: 39,825,037	D1843E	probably benign	Het
Rps6ka4	T	A	19: 6,832,004	R427S	possibly damaging	Het
Scgb2b24	A	T	7: 33,737,370	L106I	probably benign	Het
Skint9	A	T	4: 112,391,718	M171K	probably benign	Het
Spata17	A	G	1: 187,112,559	V281A	possibly damaging	Het
Spef1	A	T	2: 131,172,705	V99E	probably damaging	Het
Srpr	C	T	9: 35,214,719	T431I	probably damaging	Het
Taar7d	T	C	10: 24,027,841	I207T	probably benign	Het
Tle1	G	A	4: 72,126,267	T501I	probably damaging	Het
Tmem88b	A	T	4: 155,784,276	W172R	probably damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vcl	G	T	14: 21,020,658	V771L	probably benign	Het
Vmn1r200	T	A	13: 22,395,741	M238K	probably damaging	Het
Vmn2r96	A	G	17: 18,573,359		probably benign	Het
Vsig10l	G	T	7: 43,463,371	E18*	probably null	Het
Wdfy3	A	G	5: 101,852,612	L2964P	probably benign	Het
Zfp334	G	A	2: 165,380,351	R591W	probably damaging	Het

Other mutations in Stk32c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02003:Stk32c	APN	7	139188153	missense	possibly damaging	0.47
IGL02559:Stk32c	APN	7	139120690	missense	probably benign	0.00
IGL02805:Stk32c	APN	7	139121846	missense	probably damaging	1.00
R0531:Stk32c	UTSW	7	139120720	missense	probably damaging	0.97
R0622:Stk32c	UTSW	7	139188110	missense	probably benign	0.00
R1140:Stk32c	UTSW	7	139125179	missense	probably damaging	0.99
R1473:Stk32c	UTSW	7	139125179	missense	probably damaging	0.99
R1589:Stk32c	UTSW	7	139119015	critical splice donor site	probably null
R1697:Stk32c	UTSW	7	139121824	missense	probably benign	0.25
R1855:Stk32c	UTSW	7	139121447	missense	probably damaging	0.97
R4290:Stk32c	UTSW	7	139120788	critical splice acceptor site	probably null
R4293:Stk32c	UTSW	7	139120788	critical splice acceptor site	probably null
R4295:Stk32c	UTSW	7	139120788	critical splice acceptor site	probably null
R5323:Stk32c	UTSW	7	139119360	missense	probably benign	0.07
R5854:Stk32c	UTSW	7	139188279	intron	probably benign
R5907:Stk32c	UTSW	7	139120674	missense	probably benign	0.32
R6115:Stk32c	UTSW	7	139120712	nonsense	probably null
R6117:Stk32c	UTSW	7	139122923	nonsense	probably null
R6176:Stk32c	UTSW	7	139120775	missense	probably benign	0.02
R6460:Stk32c	UTSW	7	139105274	missense	probably damaging	1.00
R6695:Stk32c	UTSW	7	139122964	missense	probably damaging	1.00
R6745:Stk32c	UTSW	7	139122893	missense	probably damaging	0.99
R7177:Stk32c	UTSW	7	139104302	missense	possibly damaging	0.62
R7676:Stk32c	UTSW	7	139105304	missense	possibly damaging	0.87
R7721:Stk32c	UTSW	7	139188153	missense	possibly damaging	0.47
R8977:Stk32c	UTSW	7	139125245	missense	possibly damaging	0.69
R9004:Stk32c	UTSW	7	139122943	missense	probably damaging	1.00
R9117:Stk32c	UTSW	7	139188225	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCCCAACGCAGAGAAATGC -3'
(R):5'- AACTAGACCCTTTTCCGCG -3'

Sequencing Primer
(F):5'- TCTCCAGAGGCCCGGGTAC -3'
(R):5'- TGCTGCGCACGGAATCTAATAC -3'

Posted On

2022-07-18