Mutagenetix > Incidental Mutation

Incidental Mutation 'R6115:Stk32c'

485079

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

YANK3, Pkek

MMRRC Submission

044264-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6115 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139103638-139213307 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 139120712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 200 (Y200*)

Ref Sequence

ENSEMBL: ENSMUSP00000126638 (fasta)

Gene Model

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

AlphaFold

Q8QZV4

Predicted Effect

probably null
Transcript: ENSMUST00000016125
AA Change: Y318*

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: Y318*

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
AA Change: Y200*

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: Y200*

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

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (51/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	G	5: 63,897,974	Q18E	probably damaging	Het
Acsf3	T	A	8: 122,790,672	H402Q	probably damaging	Het
Adam34	T	G	8: 43,652,061	Q182H	probably benign	Het
Alx1	G	A	10: 103,028,443	P55L	possibly damaging	Het
Arhgef38	A	T	3: 133,132,613		probably null	Het
Ccdc102a	T	C	8: 94,903,371	N514S	probably benign	Het
Corin	T	A	5: 72,360,729	T317S	probably damaging	Het
Ctnna2	A	G	6: 77,636,839	V256A	probably benign	Het
Dhx29	A	T	13: 112,952,801		probably null	Het
Dnah2	C	A	11: 69,446,649	D3209Y	probably damaging	Het
Dnhd1	A	G	7: 105,713,987	T3919A	probably benign	Het
F7	T	A	8: 13,033,958	N214K	probably benign	Het
Fam3b	T	G	16: 97,475,368	Q177H	possibly damaging	Het
Fign	T	C	2: 63,979,310	I539V	probably benign	Het
Hc	T	G	2: 35,013,038	D1067A	probably damaging	Het
Herc6	A	G	6: 57,583,206	D77G	probably benign	Het
Hmg20a	A	T	9: 56,489,832	E305D	possibly damaging	Het
Il16	G	A	7: 83,652,567	Q116*	probably null	Het
Kif13a	T	A	13: 46,801,313	I648F	probably damaging	Het
Lactb	G	T	9: 66,967,687	N374K	possibly damaging	Het
Lmx1b	T	C	2: 33,569,106	D145G	probably damaging	Het
Lrfn4	T	C	19: 4,613,909	D199G	probably damaging	Het
Lrrc49	A	T	9: 60,615,161	V307E	possibly damaging	Het
Magi1	A	C	6: 93,708,070	S776A	possibly damaging	Het
Mthfsl	T	A	9: 88,688,754	*147L	probably null	Het
Nsmce4a	G	T	7: 130,546,992	Q95K	probably benign	Het
Olfr1281	A	G	2: 111,329,213	T265A	probably benign	Het
Olfr1299	A	T	2: 111,664,642	K139*	probably null	Het
Olfr1449	T	C	19: 12,935,584	V282A	possibly damaging	Het
Olfr344	A	T	2: 36,568,951	M118L	probably damaging	Het
Pcdha7	A	G	18: 36,974,735	E271G	probably damaging	Het
Pcdhga8	T	A	18: 37,727,543	F551I	possibly damaging	Het
Prpf31	T	C	7: 3,639,706		probably null	Het
Qrfpr	C	T	3: 36,182,593	V220I	possibly damaging	Het
Rnf170	T	C	8: 26,125,966	F95S	possibly damaging	Het
Scn9a	T	A	2: 66,563,629	Y200F	possibly damaging	Het
Sfpq	A	T	4: 127,021,348		probably null	Het
Slc9c1	A	T	16: 45,555,769	Y406F	probably damaging	Het
Svil	A	G	18: 5,108,675	R1938G	probably damaging	Het
Sycp2	G	C	2: 178,348,245	R1403G	probably benign	Het
Tm9sf4	T	C	2: 153,182,489		probably null	Het
Tmc3	A	T	7: 83,614,962	M633L	possibly damaging	Het
Tmem163	T	C	1: 127,677,448	D61G	possibly damaging	Het
Unc5b	C	A	10: 60,777,546	A304S	probably benign	Het
Vmn2r106	G	A	17: 20,268,376	P587L	probably benign	Het
Vmn2r18	A	T	5: 151,584,997	S221T	possibly damaging	Het
Vmn2r85	T	G	10: 130,422,803	Y461S	probably damaging	Het
Yod1	T	C	1: 130,719,063	F226L	possibly damaging	Het
Zbtb4	T	C	11: 69,776,322	I151T	probably damaging	Het
Zfp110	A	T	7: 12,849,774	Q783L	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
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'- GTAGCAGATTCCTTCTCTCTGAGG -3'
(R):5'- ATCAGGTGGCTGCTGTTCTC -3'

Sequencing Primer
(F):5'- CACACAGGGTCTCAGAGTAGTTGC -3'
(R):5'- CTGCTGTTCTCAGAGCCTGG -3'

Posted On

2017-08-16