Mutagenetix > Incidental Mutation

Incidental Mutation 'R5323:Stk32c'

404967

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

Pkek, YANK3

MMRRC Submission

042906-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138683554-138793223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138699276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 335 (T335S)

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: T335S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: T335S

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: T217S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: T217S

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: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	A	7: 82,206,269 (GRCm39)	C784S	probably damaging	Het
Ahnak2	A	T	12: 112,745,989 (GRCm39)		probably benign	Het
Apon	A	G	10: 128,090,907 (GRCm39)	E195G	probably damaging	Het
Atxn10	A	G	15: 85,275,944 (GRCm39)	I334V	probably benign	Het
Camsap1	G	T	2: 25,855,823 (GRCm39)	A145E	probably damaging	Het
Capns1	G	T	7: 29,887,147 (GRCm39)	F243L	possibly damaging	Het
Catsper2	A	T	2: 121,237,216 (GRCm39)	I228N	probably damaging	Het
Ceacam14	A	T	7: 17,549,402 (GRCm39)	*264C	probably null	Het
Cel	A	C	2: 28,450,530 (GRCm39)	V165G	probably damaging	Het
Cldnd1	T	A	16: 58,550,016 (GRCm39)	D66E	possibly damaging	Het
Cntnap5b	T	A	1: 100,311,275 (GRCm39)	C589*	probably null	Het
Dnah3	T	A	7: 119,620,234 (GRCm39)	H1554L	probably damaging	Het
Fbxw25	T	A	9: 109,492,573 (GRCm39)	M55L	probably benign	Het
Fn1	T	C	1: 71,636,591 (GRCm39)	H2187R	probably benign	Het
Fsip2	A	G	2: 82,818,489 (GRCm39)	T4741A	possibly damaging	Het
Gabpa	T	A	16: 84,653,934 (GRCm39)	I272N	possibly damaging	Het
Ganab	T	C	19: 8,886,049 (GRCm39)	S212P	probably benign	Het
Ggt1	A	G	10: 75,421,495 (GRCm39)		probably null	Het
Hpgds	T	C	6: 65,109,169 (GRCm39)	T81A	probably benign	Het
Insr	G	A	8: 3,252,902 (GRCm39)	T419I	probably benign	Het
Itgb7	A	G	15: 102,140,059 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,799,289 (GRCm39)	I951V	possibly damaging	Het
Lrrc4c	T	A	2: 97,460,498 (GRCm39)	C375S	probably damaging	Het
Muc17	G	T	5: 137,175,537 (GRCm39)	C44*	probably null	Het
Mycbpap	A	T	11: 94,394,330 (GRCm39)	D313E	probably benign	Het
Neo1	A	G	9: 58,813,931 (GRCm39)		probably null	Het
Ntsr2	C	T	12: 16,709,934 (GRCm39)	S405F	probably benign	Het
Nup153	G	A	13: 46,870,682 (GRCm39)	P21S	probably benign	Het
Obscn	T	A	11: 58,887,703 (GRCm39)	E7705D	probably benign	Het
Ogn	A	G	13: 49,762,817 (GRCm39)	D53G	probably benign	Het
Or10d5j	A	T	9: 39,868,125 (GRCm39)	Y35*	probably null	Het
Or14j10	A	T	17: 37,935,046 (GRCm39)	I160K	probably benign	Het
Or5k8	G	A	16: 58,645,066 (GRCm39)	T2I	probably benign	Het
Or5p5	T	C	7: 107,413,883 (GRCm39)	F33L	possibly damaging	Het
Or9i1b	A	T	19: 13,896,980 (GRCm39)	I199F	possibly damaging	Het
Pde6a	G	A	18: 61,365,983 (GRCm39)	R236H	possibly damaging	Het
Pigk	T	A	3: 152,443,837 (GRCm39)	M85K	probably damaging	Het
Pirb	A	C	7: 3,719,598 (GRCm39)	I516S	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Pum2	T	A	12: 8,794,706 (GRCm39)	I737N	probably damaging	Het
Recql5	A	T	11: 115,818,215 (GRCm39)	C159S	probably damaging	Het
Rxrg	A	G	1: 167,452,573 (GRCm39)	N125S	probably benign	Het
Sgip1	C	A	4: 102,823,477 (GRCm39)	N699K	probably damaging	Het
Shprh	G	A	10: 11,046,041 (GRCm39)		probably null	Het
Smcp	C	T	3: 92,491,454 (GRCm39)	G131D	unknown	Het
St8sia6	A	G	2: 13,798,188 (GRCm39)	L23P	possibly damaging	Het
Stox1	G	A	10: 62,499,812 (GRCm39)	A916V	possibly damaging	Het
Syk	A	T	13: 52,785,753 (GRCm39)	T297S	probably benign	Het
Tert	G	T	13: 73,796,490 (GRCm39)	A1074S	probably benign	Het
Tex9	A	T	9: 72,385,187 (GRCm39)	D135E	probably damaging	Het
Tmem132a	G	A	19: 10,841,371 (GRCm39)	H318Y	possibly damaging	Het
Ttn	A	G	2: 76,738,249 (GRCm39)	S4097P	probably benign	Het
Ush2a	A	T	1: 188,553,874 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vsig8	A	G	1: 172,388,244 (GRCm39)	S71G	probably benign	Het
Zfp318	G	A	17: 46,697,662 (GRCm39)	D173N	probably damaging	Het
Zfp638	T	A	6: 83,939,076 (GRCm39)	S936T	probably damaging	Het
Zic2	A	G	14: 122,713,728 (GRCm39)	Y214C	probably damaging	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
R4290:Stk32c	UTSW	7	138,700,704 (GRCm39)	critical splice acceptor site	probably null
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
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'- TTTCTGTGGAGAGACAGGGTAC -3'
(R):5'- TCCTTGGATATGGGGCACTG -3'

Sequencing Primer
(F):5'- TACTGAGCCCAGCCTGC -3'
(R):5'- CACTGGGATCAAAGAGTCCCTAG -3'

Posted On

2016-07-22