Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Stk32c'

487767

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

YANK3, Pkek

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139103638-139213307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139120775 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 297 (D297E)

Ref Sequence

ENSEMBL: ENSMUSP00000016125 (fasta)

Gene Model

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

AlphaFold

Q8QZV4

Predicted Effect

probably benign
Transcript: ENSMUST00000016125
AA Change: D297E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: D297E

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 benign
Transcript: ENSMUST00000165870
AA Change: D179E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: D179E

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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
Akna	T	C	4: 63,377,732	Q966R	probably benign	Het
Amn	A	G	12: 111,274,156	D74G	possibly damaging	Het
Ank2	T	A	3: 126,945,471	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,754,459	C788Y	probably benign	Het
Apaf1	A	G	10: 91,059,571		probably null	Het
Asl	T	A	5: 130,018,879	H82L	probably benign	Het
Atrn	A	G	2: 130,946,091	E271G	probably benign	Het
B4galnt3	A	G	6: 120,224,164	F184S	probably damaging	Het
C1s2	T	A	6: 124,625,809	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,919	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,709,113	H755L	probably benign	Het
Ccdc65	A	G	15: 98,708,552		probably null	Het
Celsr3	A	T	9: 108,828,355	Y679F	probably damaging	Het
Cep135	A	T	5: 76,624,643	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,550,916	S58P	probably damaging	Het
Clip4	T	A	17: 71,806,633	C259*	probably null	Het
Cyp2j12	T	A	4: 96,140,837	Q69L	probably damaging	Het
Dirc2	C	T	16: 35,704,797	M426I	probably benign	Het
Dock3	G	A	9: 106,912,948	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,716,760		probably benign	Het
Fam43b	T	C	4: 138,395,211	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,500,500	I618F	possibly damaging	Het
Gm10229	T	A	16: 89,015,400	Y24*	probably null	Het
Gm11639	A	T	11: 104,792,557	I1604F	probably benign	Het
Gm13212	T	A	4: 145,624,058	C688*	probably null	Het
Gne	C	T	4: 44,053,019		probably benign	Het
Gnpat	T	A	8: 124,878,854	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,487,524	A200V	unknown	Het
Grid1	C	A	14: 35,562,547	A749E	probably benign	Het
Grip2	C	T	6: 91,779,851	V540I	probably benign	Het
Ice2	C	T	9: 69,417,072	T759M	probably damaging	Het
Jrk	G	T	15: 74,706,340	N365K	possibly damaging	Het
Kank4	A	G	4: 98,765,554	I879T	probably damaging	Het
Lao1	T	A	4: 118,962,000	M1K	probably null	Het
Mlf1	A	G	3: 67,384,594	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,440,148		probably benign	Het
Nusap1	A	G	2: 119,630,421	R132G	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1153	G	A	2: 87,896,936	V254I	probably benign	Het
Olfr738	A	G	14: 50,414,390	Y282C	probably damaging	Het
Olfr926	A	C	9: 38,877,377	D67A	probably damaging	Het
Paqr9	G	T	9: 95,560,775	V273L	possibly damaging	Het
Pcdha9	A	T	18: 36,998,931	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,664,229	D762G	probably benign	Het
Pde3a	T	A	6: 141,498,889	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,671,785		probably null	Het
Phldb3	C	A	7: 24,626,702	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,621,797	E264A	probably damaging	Het
Slit1	T	C	19: 41,637,595	K576R	probably damaging	Het
Sox21	T	C	14: 118,235,628	K3R	possibly damaging	Het
Suclg1	T	C	6: 73,275,343	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,668,888	C513G	probably damaging	Het
Tbc1d23	A	G	16: 57,171,789	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,952,796	V642A	probably damaging	Het
Tle2	A	T	10: 81,587,334	D486V	probably damaging	Het
Tmem232	A	G	17: 65,485,872	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,693,101	Y106H	probably damaging	Het
Trpm4	T	G	7: 45,326,676	N229T	probably damaging	Het
Tspo	A	G	15: 83,573,806	T120A	probably benign	Het
Ttc28	G	A	5: 111,223,985	A767T	probably damaging	Het
Usp53	G	A	3: 122,934,003	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,076,358	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,086,000	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,615,981	L558P	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
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'- GTCTGAGCCCATGGAAAGATG -3'
(R):5'- CCCTTGACAGATGAGCTTCTGG -3'

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

Posted On

2017-10-10