Mutagenetix > Incidental Mutation

Incidental Mutation 'R4293:Stk32c'

323167

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

Pkek, YANK3

MMRRC Submission

041082-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4293 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138683554-138793223 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 138700704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126638 (fasta)

Gene Model

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

AlphaFold

Q8QZV4

Predicted Effect

probably null
Transcript: ENSMUST00000016125

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981

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 null
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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (60/61)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	T	C	19: 4,915,468 (GRCm39)	E428G	probably benign	Het
Arfgef2	T	C	2: 166,732,211 (GRCm39)	I1600T	probably benign	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		probably benign	Het
Asgr2	C	A	11: 69,989,057 (GRCm39)	T167K	probably benign	Het
Atf6b	T	A	17: 34,871,648 (GRCm39)	M428K	probably benign	Het
Atpaf1	A	T	4: 115,645,556 (GRCm39)	M142L	probably benign	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Bms1	T	C	6: 118,382,308 (GRCm39)		probably null	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cdca2	T	C	14: 67,952,299 (GRCm39)	D24G	probably benign	Het
Celsr2	T	C	3: 108,300,993 (GRCm39)	R2767G	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Cyp2c55	A	T	19: 39,000,235 (GRCm39)	I145F	probably damaging	Het
Ddx18	T	C	1: 121,489,121 (GRCm39)	T309A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,039,720 (GRCm39)	L713P	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fnbp1	A	G	2: 30,995,362 (GRCm39)	F24S	probably damaging	Het
Gm16686	A	T	4: 88,673,710 (GRCm39)		probably benign	Het
Gmps	A	G	3: 63,898,040 (GRCm39)	M275V	probably damaging	Het
Igdcc4	A	G	9: 65,031,892 (GRCm39)		probably null	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,873,455 (GRCm39)	L320P	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,824,171 (GRCm39)	D164G	probably damaging	Het
Myo5a	A	T	9: 75,051,453 (GRCm39)	T349S	probably benign	Het
Or1ad6	T	C	11: 50,860,253 (GRCm39)	M136T	probably damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pik3c3	G	A	18: 30,477,043 (GRCm39)	A855T	probably damaging	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Rev1	A	T	1: 38,147,500 (GRCm39)	D13E	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc4a5	C	T	6: 83,237,511 (GRCm39)	R165C	probably damaging	Het
Slfn10-ps	T	C	11: 82,926,260 (GRCm39)		noncoding transcript	Het
Slfn9	T	C	11: 82,873,334 (GRCm39)	N523S	probably benign	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Tenm3	T	C	8: 48,848,693 (GRCm39)	T49A	probably damaging	Het
Tep1	T	C	14: 51,084,318 (GRCm39)	I954V	probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	Het
Xpr1	A	G	1: 155,188,542 (GRCm39)	F366S	possibly damaging	Het
Zfp317	A	G	9: 19,557,990 (GRCm39)		probably null	Het

Other mutations in Stk32c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02003:Stk32c	APN	7	138,768,069 (GRCm39)	missense	possibly damaging	0.47
IGL02559:Stk32c	APN	7	138,700,606 (GRCm39)	missense	probably benign	0.00
IGL02805:Stk32c	APN	7	138,701,762 (GRCm39)	missense	probably damaging	1.00
R0531:Stk32c	UTSW	7	138,700,636 (GRCm39)	missense	probably damaging	0.97
R0622:Stk32c	UTSW	7	138,768,026 (GRCm39)	missense	probably benign	0.00
R1140:Stk32c	UTSW	7	138,705,095 (GRCm39)	missense	probably damaging	0.99
R1473:Stk32c	UTSW	7	138,705,095 (GRCm39)	missense	probably damaging	0.99
R1589:Stk32c	UTSW	7	138,698,931 (GRCm39)	critical splice donor site	probably null
R1697:Stk32c	UTSW	7	138,701,740 (GRCm39)	missense	probably benign	0.25
R1855:Stk32c	UTSW	7	138,701,363 (GRCm39)	missense	probably damaging	0.97
R4290:Stk32c	UTSW	7	138,700,704 (GRCm39)	critical splice acceptor site	probably null
R4295:Stk32c	UTSW	7	138,700,704 (GRCm39)	critical splice acceptor site	probably null
R5323:Stk32c	UTSW	7	138,699,276 (GRCm39)	missense	probably benign	0.07
R5854:Stk32c	UTSW	7	138,768,195 (GRCm39)	intron	probably benign
R5907:Stk32c	UTSW	7	138,700,590 (GRCm39)	missense	probably benign	0.32
R6115:Stk32c	UTSW	7	138,700,628 (GRCm39)	nonsense	probably null
R6117:Stk32c	UTSW	7	138,702,839 (GRCm39)	nonsense	probably null
R6176:Stk32c	UTSW	7	138,700,691 (GRCm39)	missense	probably benign	0.02
R6460:Stk32c	UTSW	7	138,685,190 (GRCm39)	missense	probably damaging	1.00
R6695:Stk32c	UTSW	7	138,702,880 (GRCm39)	missense	probably damaging	1.00
R6745:Stk32c	UTSW	7	138,702,809 (GRCm39)	missense	probably damaging	0.99
R7177:Stk32c	UTSW	7	138,684,218 (GRCm39)	missense	possibly damaging	0.62
R7676:Stk32c	UTSW	7	138,685,220 (GRCm39)	missense	possibly damaging	0.87
R7721:Stk32c	UTSW	7	138,768,069 (GRCm39)	missense	possibly damaging	0.47
R8977:Stk32c	UTSW	7	138,705,161 (GRCm39)	missense	possibly damaging	0.69
R9004:Stk32c	UTSW	7	138,702,859 (GRCm39)	missense	probably damaging	1.00
R9117:Stk32c	UTSW	7	138,768,141 (GRCm39)	missense	unknown
R9481:Stk32c	UTSW	7	138,768,173 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTAGTGAAGGAGTCTGAGC -3'
(R):5'- AGCTTCTGGCCTCTGATACC -3'

Sequencing Primer
(F):5'- CCATGGAAAGATGGGGTGTCTCC -3'
(R):5'- TCTGATACCCAGTTCAGTCGGG -3'

Posted On

2015-06-20