Mutagenetix > Incidental Mutations

Incidental Mutation 'R6745:Stk32c'

530531

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

YANK3, Pkek

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6745 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139103638-139213307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139122893 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 195 (R195W)

Ref Sequence

ENSEMBL: ENSMUSP00000016125 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000016125
AA Change: R195W

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: R195W

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

possibly damaging
Transcript: ENSMUST00000165870
AA Change: R77W

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: R77W

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

Meta Mutation Damage Score

0.1837

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (43/43)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	G	T	10: 10,390,197	T1040K	probably damaging	Het
Adgrf3	A	G	5: 30,203,603	V59A	probably benign	Het
Ankk1	G	T	9: 49,416,180	H566Q	probably benign	Het
Avil	A	C	10: 127,014,119	D613A	probably benign	Het
Bbs9	A	G	9: 22,670,836	N613S	probably benign	Het
Chd1	A	G	17: 17,387,167	T326A	probably benign	Het
Clasp2	A	T	9: 113,875,270	R558*	probably null	Het
Cmbl	A	G	15: 31,589,787	D221G	possibly damaging	Het
Col3a1	G	T	1: 45,338,622		probably benign	Het
Creb5	A	T	6: 53,604,532	M172L	probably benign	Het
Crybg3	A	G	16: 59,552,244	V2291A	possibly damaging	Het
Cyp2g1	T	G	7: 26,814,179	V181G	probably damaging	Het
D430042O09Rik	T	C	7: 125,770,650	S137P	probably benign	Het
Dclk1	T	A	3: 55,477,808	S40T	probably damaging	Het
Dnah10	G	T	5: 124,808,812	M3053I	probably damaging	Het
Dnah12	T	A	14: 26,707,228	I268K	probably damaging	Het
Dock2	C	G	11: 34,705,842	D396H	probably damaging	Het
Dock2	T	A	11: 34,705,843	K395N	probably damaging	Het
Gpbp1	G	A	13: 111,453,385	R59C	probably benign	Het
Ifi47	T	G	11: 49,095,502	I32S	probably benign	Het
Ighg3	A	G	12: 113,360,270	V166A	unknown	Het
Kdm5d	T	A	Y: 927,112	C617S	probably benign	Homo
Kif20b	T	G	19: 34,928,876	S55A	possibly damaging	Het
Klhl1	C	T	14: 96,280,002		probably null	Het
Kndc1	C	T	7: 139,920,976	T727I	probably benign	Het
Lrrk1	A	T	7: 66,273,001	I298N	probably damaging	Het
Ly75	C	A	2: 60,308,179	R1448L	probably damaging	Het
Mup4	C	T	4: 59,960,091	V58M	possibly damaging	Het
Nr2c1	T	C	10: 94,190,664	F467S	probably damaging	Het
Olfr112	T	A	17: 37,563,579	H244L	probably damaging	Het
Pla2g4a	G	T	1: 149,886,230	Q151K	probably benign	Het
Pom121l2	A	T	13: 21,983,698	Q713L	probably benign	Het
Pomgnt1	T	A	4: 116,153,883	S210T	probably damaging	Het
Prb1	T	C	6: 132,209,420		probably null	Het
Pyroxd2	T	C	19: 42,747,360	D101G	probably damaging	Het
Ranbp3	A	G	17: 56,709,308	D359G	probably benign	Het
Rgsl1	T	A	1: 153,822,317	I531F	probably benign	Het
Serpina1b	T	C	12: 103,730,355	N265S	possibly damaging	Het
Slc51b	T	C	9: 65,412,930	E85G	possibly damaging	Het
Uggt2	T	C	14: 119,042,610	T819A	possibly damaging	Het
Ugt1a9	A	T	1: 88,071,176	E116V	probably benign	Het
Zswim5	C	G	4: 116,975,204	P543A	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
R7177:Stk32c	UTSW	7	139104302	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CGTCCATCCTCAAAGTGGGTAG -3'
(R):5'- GCAGGATGGTGATCAGACTG -3'

Sequencing Primer
(F):5'- CATCCTCAAAGTGGGTAGTTTGGAC -3'
(R):5'- CAGGATGGTGATCAGACTGGAAGG -3'

Posted On

2018-08-01