Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Stk32c'

692593

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 #

R9117 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

139103638-139213307 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139188225 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 47 (D47N)

Ref Sequence

ENSEMBL: ENSMUSP00000016125 (fasta)

Gene Model

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

AlphaFold

Q8QZV4

Predicted Effect

unknown
Transcript: ENSMUST00000016125
AA Change: D47N

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: D47N

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

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 35,893,071	S185T	probably benign	Het
Agfg1	T	G	1: 82,894,495	F516L	possibly damaging	Het
Akap5	T	A	12: 76,327,818	M8K	possibly damaging	Het
Aldh1l2	C	T	10: 83,506,681	V535I	probably benign	Het
Atg3	T	C	16: 45,186,201	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,746,614	P168L	probably damaging	Het
Ccdc173	G	T	2: 69,781,759	S175*	probably null	Het
Ccr7	A	G	11: 99,145,260	Y279H	probably damaging	Het
Clint1	A	G	11: 45,890,735	T211A	probably damaging	Het
Dchs2	T	G	3: 83,269,355	D873E	probably benign	Het
Dhx30	A	G	9: 110,097,096	L149P	probably damaging	Het
Dnah1	T	C	14: 31,311,624		probably benign	Het
Dtx1	A	G	5: 120,710,291	V8A	probably benign	Het
Enpp3	T	A	10: 24,826,180	K91N	possibly damaging	Het
Fcho1	C	T	8: 71,712,068	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,819,191	E308G	probably damaging	Het
Foxb2	T	C	19: 16,873,394	K83E	unknown	Het
Git2	A	G	5: 114,749,560		probably null	Het
Gm10024	T	C	10: 77,711,505	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,668	D33E	probably damaging	Het
Herc4	C	A	10: 63,290,521	L551I	probably benign	Het
Igfn1	T	A	1: 135,974,790	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,964,469	H90L	probably benign	Het
Jag2	G	T	12: 112,913,659	Y697*	probably null	Het
Kif1c	T	C	11: 70,704,972	V168A	probably damaging	Het
Lipn	T	C	19: 34,068,641	W5R	probably damaging	Het
Mavs	G	A	2: 131,245,325	A248T	probably benign	Het
Megf10	G	A	18: 57,259,701	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023	H653R	probably benign	Het
Mrps9	T	G	1: 42,903,377	S332A	probably benign	Het
Muc5b	T	C	7: 141,869,333	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,887,917	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,347,807	T1002M	probably benign	Het
Nav3	T	A	10: 109,684,239	M2328L	probably benign	Het
Olfr186	T	C	16: 59,027,290	I206V	probably benign	Het
Olfr917	T	A	9: 38,665,810	E11D	probably benign	Het
Pawr	T	C	10: 108,333,279	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,475,037	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,578,131	D1250G	probably benign	Het
Ptprs	T	A	17: 56,435,853	M430L	possibly damaging	Het
Raly	T	A	2: 154,861,865	S119T	probably damaging	Het
Serpinb6a	A	T	13: 33,925,429	S128T	probably benign	Het
Sirt3	C	T	7: 140,869,449		probably benign	Het
Slc22a7	A	G	17: 46,437,103	F210L	probably damaging	Het
Speg	G	T	1: 75,387,800	S275I	probably damaging	Het
Stra6	T	G	9: 58,152,539	S594R	probably benign	Het
Sun2	T	C	15: 79,730,316	H295R	probably benign	Het
Syne1	T	C	10: 5,103,667	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,983,818	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943		probably benign	Het
Trim50	A	G	5: 135,353,683	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,965,320	V189A	probably benign	Het
Zfat	C	A	15: 68,187,069	A206S	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
R9004:Stk32c	UTSW	7	139122943	missense	probably damaging	1.00
R9481:Stk32c	UTSW	7	139188257	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCCCAACGCAGAGAAATGC -3'
(R):5'- AACTAGACCCTTTTCCGCGG -3'

Sequencing Primer
(F):5'- TCTCCAGAGGCCCGGGTAC -3'
(R):5'- TGCTGCGCACGGAATCTAATAC -3'

Posted On

2021-12-30