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

YANK3, Pkek

MMRRC Submission

041655-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4290 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

139103638-139213307 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 139120788 bp (GRCm38)

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: 142,594,012	N1545S	probably benign	Het
Arid1b	C	A	17: 5,040,663	S546R	probably damaging	Het
Arid3b	A	T	9: 57,790,430		probably benign	Het
Atf6b	T	A	17: 34,652,674	M428K	probably benign	Het
Atpaf1	A	T	4: 115,788,359	M142L	probably benign	Het
Auts2	A	G	5: 131,474,971	S225P	probably damaging	Het
Bclaf1	A	G	10: 20,323,778	Q20R	probably damaging	Het
Bivm	A	T	1: 44,138,633	R364S	probably damaging	Het
Brwd1	G	A	16: 96,017,604	P1343S	probably damaging	Het
Cckar	A	G	5: 53,706,497	S41P	probably benign	Het
Cfap221	A	G	1: 119,930,920	S728P	probably benign	Het
Chrna9	A	G	5: 65,977,138	K444R	probably benign	Het
Cox10	A	T	11: 63,964,255	V400E	probably benign	Het
Dact2	C	T	17: 14,196,571	E456K	probably benign	Het
Ddr2	A	G	1: 169,990,609	V443A	probably benign	Het
Dlg3	A	T	X: 100,796,682		probably benign	Het
En1	C	A	1: 120,603,757	A242E	unknown	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Gm6124	A	T	7: 39,222,771		noncoding transcript	Het
Gucy1a1	A	T	3: 82,094,759	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,314,587	M48L	possibly damaging	Het
Hepacam2	T	A	6: 3,487,237	Y40F	probably benign	Het
Ift80	A	G	3: 68,963,690	I191T	probably damaging	Het
Il19	T	A	1: 130,935,013	T58S	possibly damaging	Het
Itga2	G	A	13: 114,866,173	R594C	probably damaging	Het
Itga5	C	T	15: 103,352,257		probably null	Het
Kcna1	T	C	6: 126,641,875	D494G	probably damaging	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Kmt2b	A	T	7: 30,581,836		probably null	Het
Kmt5b	T	C	19: 3,802,193	Y125H	possibly damaging	Het
Lbr	C	T	1: 181,820,702	C398Y	probably damaging	Het
Lmf1	T	C	17: 25,654,481	L320P	probably damaging	Het
Man1c1	T	A	4: 134,563,785	D600V	probably damaging	Het
Mapkapk3	T	C	9: 107,258,932		probably benign	Het
Mccc1	A	G	3: 35,990,068	V203A	probably damaging	Het
Mettl5	T	C	2: 69,880,832	N114S	probably benign	Het
Mindy2	T	A	9: 70,631,094	R320W	probably damaging	Het
Nrip1	A	G	16: 76,291,988	S894P	probably benign	Het
Nup210l	A	T	3: 90,207,326	H1736L	probably benign	Het
Olfr1396	T	A	11: 49,113,427	I100L	probably benign	Het
Olfr1508	T	C	14: 52,463,985	N8S	probably damaging	Het
Olfr169	A	T	16: 19,566,244	M213K	possibly damaging	Het
Olfr310	A	T	7: 86,269,760	F10I	probably damaging	Het
Olfr373	A	G	8: 72,099,768	T3A	probably benign	Het
Olfr711	A	C	7: 106,971,711	L211R	probably damaging	Het
Olfr926	A	G	9: 38,877,313	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,322,681	S705T	possibly damaging	Het
Phf14	C	T	6: 11,987,097	P559S	probably damaging	Het
Plpp4	A	G	7: 129,307,632	E22G	probably damaging	Het
Ppp4c	A	G	7: 126,792,059		probably null	Het
Rps15a-ps1	A	G	10: 106,192,635		noncoding transcript	Het
Rps27a	A	G	11: 29,545,933	Y140H	probably benign	Het
Sash1	A	G	10: 8,730,242	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,969,503	D34G	probably damaging	Het
Srsf6	T	C	2: 162,934,716		probably benign	Het
Tmem237	A	G	1: 59,119,836		probably benign	Het
Ttc19	A	G	11: 62,285,927		probably null	Het
Ttf2	T	C	3: 100,962,761	D332G	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vcan	A	G	13: 89,725,486	V83A	probably damaging	Het
Vmn1r192	T	A	13: 22,187,295	I252F	probably damaging	Het
Vmn2r101	A	T	17: 19,612,041	R766S	probably damaging	Het
Xndc1	T	A	7: 102,081,487	L288M	possibly damaging	Het
Zfa-ps	A	T	10: 52,543,711		noncoding transcript	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
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
R9481:Stk32c	UTSW	7	139188257	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