Mutagenetix > Incidental Mutation

Incidental Mutation 'R4290:Stk32c'

323008

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

Pkek, YANK3

MMRRC Submission

041655-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4290 (G1)

Quality Score

224

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: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (73/73)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,539,738 (GRCm39)	N1545S	probably benign	Het
Arid1b	C	A	17: 5,090,938 (GRCm39)	S546R	probably damaging	Het
Arid3b	A	T	9: 57,697,713 (GRCm39)		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
Auts2	A	G	5: 131,503,809 (GRCm39)	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cfap221	A	G	1: 119,858,650 (GRCm39)	S728P	probably benign	Het
Chrna9	A	G	5: 66,134,481 (GRCm39)	K444R	probably benign	Het
Cox10	A	T	11: 63,855,081 (GRCm39)	V400E	probably benign	Het
Dact2	C	T	17: 14,416,833 (GRCm39)	E456K	probably benign	Het
Ddr2	A	G	1: 169,818,178 (GRCm39)	V443A	probably benign	Het
Dlg3	A	T	X: 99,840,288 (GRCm39)		probably benign	Het
En1	C	A	1: 120,531,486 (GRCm39)	A242E	unknown	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm6124	A	T	7: 38,872,195 (GRCm39)		noncoding transcript	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237 (GRCm39)	Y40F	probably benign	Het
Ift80	A	G	3: 68,871,023 (GRCm39)	I191T	probably damaging	Het
Il19	T	A	1: 130,862,750 (GRCm39)	T58S	possibly damaging	Het
Itga2	G	A	13: 115,002,709 (GRCm39)	R594C	probably damaging	Het
Itga5	C	T	15: 103,260,684 (GRCm39)		probably null	Het
Kcna1	T	C	6: 126,618,838 (GRCm39)	D494G	probably damaging	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,281,261 (GRCm39)		probably null	Het
Kmt5b	T	C	19: 3,852,193 (GRCm39)	Y125H	possibly damaging	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
Man1c1	T	A	4: 134,291,096 (GRCm39)	D600V	probably damaging	Het
Mapkapk3	T	C	9: 107,136,131 (GRCm39)		probably benign	Het
Mccc1	A	G	3: 36,044,217 (GRCm39)	V203A	probably damaging	Het
Mettl5	T	C	2: 69,711,176 (GRCm39)	N114S	probably benign	Het
Mindy2	T	A	9: 70,538,376 (GRCm39)	R320W	probably damaging	Het
Nrip1	A	G	16: 76,088,876 (GRCm39)	S894P	probably benign	Het
Nup210l	A	T	3: 90,114,633 (GRCm39)	H1736L	probably benign	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2aj4	A	T	16: 19,384,994 (GRCm39)	M213K	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or2z9	A	G	8: 72,853,612 (GRCm39)	T3A	probably benign	Het
Or4e1	T	C	14: 52,701,442 (GRCm39)	N8S	probably damaging	Het
Or6b6	A	C	7: 106,570,918 (GRCm39)	L211R	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
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,391,231 (GRCm39)		probably null	Het
Rps15a-ps1	A	G	10: 106,028,496 (GRCm39)		noncoding transcript	Het
Rps27a	A	G	11: 29,495,933 (GRCm39)	Y140H	probably benign	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Tmem237	A	G	1: 59,158,995 (GRCm39)		probably benign	Het
Ttc19	A	G	11: 62,176,753 (GRCm39)		probably null	Het
Ttf2	T	C	3: 100,870,077 (GRCm39)	D332G	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,873,605 (GRCm39)	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,832,303 (GRCm39)	R766S	probably damaging	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,419,807 (GRCm39)		noncoding transcript	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
R4293: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'- CTGAGCCCATGGAAAGATGG -3'
(R):5'- ACCCTTGACAGATGAGCTTC -3'

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

Posted On

2015-06-20