Mutagenetix > Incidental Mutation

Incidental Mutation 'R9004:Stk32c'

685143

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

YANK3, Pkek

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9004 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139103638-139213307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139122943 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 178 (D178G)

Ref Sequence

ENSEMBL: ENSMUSP00000016125 (fasta)

Gene Model

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

AlphaFold

Q8QZV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000016125
AA Change: D178G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: D178G

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 damaging
Transcript: ENSMUST00000165870
AA Change: D60G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: D60G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,618,335		probably benign	Het
2310057N15Rik	C	A	16: 88,774,098	C18F	probably damaging	Het
Abca7	T	A	10: 80,005,649	M941K	probably damaging	Het
Abcd2	A	G	15: 91,190,848	I254T	probably benign	Het
Abcg8	C	A	17: 84,697,362	T519K	probably benign	Het
Adcy9	A	G	16: 4,288,514	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,225,691	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,552,610	D529G	probably damaging	Het
Ascc3	T	A	10: 50,842,180	C1990S	probably benign	Het
BC034090	T	A	1: 155,226,392	N42I	possibly damaging	Het
Bptf	G	A	11: 107,054,887	P2509S	probably damaging	Het
Carmil1	T	A	13: 24,041,679	D1042V	probably damaging	Het
Ccny	A	G	18: 9,332,883	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,958,499	N268D	probably benign	Het
Cep152	T	C	2: 125,611,100	S351G	probably benign	Het
Chrm1	T	C	19: 8,678,545	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,572,231	D454E	probably benign	Het
Dmbt1	T	C	7: 131,112,069	L1622P	unknown	Het
Eif2s2	A	G	2: 154,878,484	Y172H	probably benign	Het
Ell	T	A	8: 70,578,954	S101T	probably damaging	Het
Faf1	A	G	4: 109,841,353	T337A	probably benign	Het
Fhad1	A	T	4: 141,922,424		probably benign	Het
Gen1	T	C	12: 11,255,021		probably benign	Het
Gfap	A	G	11: 102,891,442	I414T	probably benign	Het
Ginm1	A	C	10: 7,775,255	V129G	probably damaging	Het
Helq	C	T	5: 100,778,732		probably benign	Het
Hoxb3	A	G	11: 96,346,311	D405G	possibly damaging	Het
Hsp90aa1	A	G	12: 110,692,611	V584A	probably damaging	Het
Iglc2	T	C	16: 19,198,675	K59R	probably benign	Het
Inhba	T	C	13: 16,026,941	S363P	probably benign	Het
Kif1c	A	G	11: 70,725,132	K656E	probably benign	Het
Mroh4	G	T	15: 74,614,322	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Naaladl1	C	A	19: 6,105,935	D46E	probably damaging	Het
Nbea	C	T	3: 56,002,938	V1279I	probably benign	Het
Nceh1	T	A	3: 27,239,577	D161E	possibly damaging	Het
Nck2	A	T	1: 43,554,350	N239I		Het
Nlrx1	C	T	9: 44,256,347	R751H	probably benign	Het
Olfr1116	T	A	2: 87,269,351	F190Y	possibly damaging	Het
Olfr146	C	A	9: 39,019,284	V86L	probably benign	Het
Olfr910	A	G	9: 38,539,234	Y113C	probably benign	Het
Oscar	A	T	7: 3,616,041	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,936,409	I511F	probably damaging	Het
Pappa2	T	C	1: 158,936,948	D331G	possibly damaging	Het
Pde4c	C	T	8: 70,746,866	S265L	possibly damaging	Het
Pex1	A	G	5: 3,612,914	S502G	probably benign	Het
Pigl	A	G	11: 62,512,953	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,580,447	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,543,372	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,031,528	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,551,023	Y11H	probably damaging	Het
Prss54	C	A	8: 95,565,509	K147N	possibly damaging	Het
Ptchd3	T	A	11: 121,841,861	F526I	possibly damaging	Het
Ptprt	T	C	2: 161,766,394	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,821,775		probably benign	Het
Sdad1	T	C	5: 92,291,961	T402A	probably benign	Het
Tas2r119	T	C	15: 32,177,963	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,796,711	E105V	probably benign	Het
Tlk1	A	G	2: 70,721,946	I520T	probably damaging	Het
Tmf1	A	G	6: 97,175,777	V445A	probably benign	Het
Tomm6	T	C	17: 47,687,908	D40G	possibly damaging	Het
Traf6	C	A	2: 101,690,098	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,779,458	H150R		Het
Ube2g2	A	T	10: 77,643,600	M126L	probably benign	Het
Unc45b	A	G	11: 82,928,689	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,846,913	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,413,167	L112F		Het
Wwc2	A	C	8: 47,920,697	L45V	probably damaging	Het
Zfp459	A	C	13: 67,408,595	I123R	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
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
R9117:Stk32c	UTSW	7	139188225	missense	unknown
R9481:Stk32c	UTSW	7	139188257	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTATTCCCAACCGTTCAGC -3'
(R):5'- CCAAACCGCTCTCATGGACATG -3'

Sequencing Primer
(F):5'- TTCAGCCCAGGAAGATGCCTC -3'
(R):5'- TCTTGGCACAGCTCTGAGCAG -3'

Posted On

2021-10-11