Mutagenetix > Incidental Mutation

Incidental Mutation 'R6460:Stk32c'

517568

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

Pkek, YANK3

MMRRC Submission

044595-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6460 (G1)

Quality Score

147.008

Status

Not validated

Chromosome

Chromosomal Location

138683554-138793223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138685190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 320 (N320I)

Ref Sequence

ENSEMBL: ENSMUSP00000126638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016125] [ENSMUST00000026551] [ENSMUST00000121184] [ENSMUST00000165870]

AlphaFold

Q8QZV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000016125
AA Change: N438I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: N438I

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: ENSMUST00000026551

SMART Domains

Protein: ENSMUSP00000026551
Gene: ENSMUSG00000025478

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	64	453	4.5e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121184

SMART Domains

Protein: ENSMUSP00000112896
Gene: ENSMUSG00000025478

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	85	474	1.1e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154273

Predicted Effect

probably damaging
Transcript: ENSMUST00000165870
AA Change: N320I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: N320I

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,844,862 (GRCm39)	H1528L	probably benign	Het
Ablim1	A	G	19: 57,068,271 (GRCm39)	S263P	possibly damaging	Het
Ahnak2	T	C	12: 112,750,610 (GRCm39)	E104G	probably null	Het
Apof	T	A	10: 128,105,086 (GRCm39)	M80K	probably damaging	Het
Arfgef1	C	T	1: 10,283,285 (GRCm39)	R208H	probably damaging	Het
Arhgef33	A	G	17: 80,657,018 (GRCm39)		probably null	Het
Atxn2l	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	7: 126,093,420 (GRCm39)		probably benign	Het
Cabcoco1	T	C	10: 68,352,211 (GRCm39)	K34E	probably damaging	Het
Col4a4	C	A	1: 82,444,253 (GRCm39)	G1338V	unknown	Het
Coq9	T	A	8: 95,579,814 (GRCm39)	D256E	probably damaging	Het
Dnajc18	A	T	18: 35,833,963 (GRCm39)	C41S	probably benign	Het
Dnajc6	A	G	4: 101,472,795 (GRCm39)	I307M	probably damaging	Het
Emg1	A	G	6: 124,688,870 (GRCm39)	V46A	probably damaging	Het
Eya3	A	G	4: 132,408,174 (GRCm39)	S157G	probably damaging	Het
Eya4	T	C	10: 23,027,910 (GRCm39)	N274S	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	A	G	9: 15,878,296 (GRCm39)	V3395A	probably damaging	Het
Fchsd1	A	T	18: 38,092,897 (GRCm39)		probably null	Het
Gm4846	A	G	1: 166,325,082 (GRCm39)	V3A	probably benign	Het
Hecw2	T	A	1: 53,907,992 (GRCm39)		probably null	Het
Herc3	T	A	6: 58,867,108 (GRCm39)	I10N	probably damaging	Het
Hhatl	C	T	9: 121,618,588 (GRCm39)	R138H	probably benign	Het
Hspa9	A	T	18: 35,085,765 (GRCm39)	H35Q	probably benign	Het
Irgq	T	A	7: 24,233,115 (GRCm39)	S319T	probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Ksr2	T	A	5: 117,894,449 (GRCm39)		probably null	Het
Lrriq1	T	C	10: 103,036,559 (GRCm39)	I865V	probably damaging	Het
Map2k1	A	G	9: 64,094,577 (GRCm39)	L355P	probably damaging	Het
Muc16	A	G	9: 18,551,812 (GRCm39)	I4827T	probably benign	Het
Myh1	T	C	11: 67,112,202 (GRCm39)	V1752A	probably benign	Het
Nfatc2ip	A	G	7: 125,986,909 (GRCm39)	V282A	probably damaging	Het
Nrg1	T	A	8: 32,308,561 (GRCm39)	E485V	probably damaging	Het
Ofcc1	T	C	13: 40,441,455 (GRCm39)	D2G	probably damaging	Het
Or10d3	CAGAG	CAG	9: 39,462,088 (GRCm39)		probably null	Het
Pclo	T	C	5: 14,729,146 (GRCm39)		probably benign	Het
Pom121	T	C	5: 135,420,537 (GRCm39)	K295E	unknown	Het
Rb1	A	C	14: 73,515,894 (GRCm39)	I294R	probably benign	Het
Schip1	C	A	3: 68,402,227 (GRCm39)	S101R	probably benign	Het
Sec24c	T	A	14: 20,740,868 (GRCm39)	Y629N	probably damaging	Het
Shkbp1	T	A	7: 27,049,963 (GRCm39)	H305L	probably benign	Het
Spag9	T	C	11: 93,959,801 (GRCm39)	I187T	probably damaging	Het
Srp72	C	A	5: 77,135,838 (GRCm39)	T256K	probably damaging	Het
Stxbp4	A	T	11: 90,497,811 (GRCm39)	S163T	probably benign	Het
Sycp1	T	G	3: 102,832,569 (GRCm39)	Y199S	probably damaging	Het
Tpk1	T	C	6: 43,445,961 (GRCm39)	D159G	probably benign	Het
Trav21-dv12	C	T	14: 54,114,191 (GRCm39)	H104Y	probably benign	Het
Trip4	A	T	9: 65,788,302 (GRCm39)	Y48N	probably damaging	Het
Trmt10b	A	G	4: 45,314,322 (GRCm39)	T255A	possibly damaging	Het
Ttn	G	A	2: 76,747,232 (GRCm39)	Q4606*	probably null	Het
Vcan	T	A	13: 89,838,806 (GRCm39)	K2246M	possibly damaging	Het
Zfp438	C	A	18: 5,213,603 (GRCm39)	G452C	probably damaging	Het
Zfp54	T	A	17: 21,654,004 (GRCm39)	I166N	probably benign	Het
Zfp735	T	C	11: 73,602,478 (GRCm39)	V474A	probably benign	Het
Zfp831	G	T	2: 174,488,360 (GRCm39)	G1012W	possibly 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
R5323:Stk32c	UTSW	7	138,699,276 (GRCm39)	missense	probably benign	0.07
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
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'- CTAAGTCCGCCTAGAAGGTTCC -3'
(R):5'- TCTGCTCTCAGCTTTTGGAG -3'

Sequencing Primer
(F):5'- TAGAAGGTTCCCAGAGGCCTG -3'
(R):5'- CAGCTTTTGGAGATGATAGACTTC -3'

Posted On

2018-05-21