Mutagenetix > Incidental Mutation

Incidental Mutation 'R8977:Stk32c'

683503

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

Pkek, YANK3

MMRRC Submission

068715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138683554-138793223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138705161 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 119 (M119K)

Ref Sequence

ENSEMBL: ENSMUSP00000016125 (fasta)

Gene Model

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

AlphaFold

Q8QZV4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000016125
AA Change: M119K

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: M119K

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 null
Transcript: ENSMUST00000165870
AA Change: M1K

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: M1K

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: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,184,710 (GRCm39)	E476G	unknown	Het
Aars1	G	A	8: 111,766,849 (GRCm39)	R77Q	probably damaging	Het
Abcc10	C	A	17: 46,624,593 (GRCm39)	V795L	probably benign	Het
Adam30	A	G	3: 98,069,378 (GRCm39)	K276E	probably damaging	Het
Adam6b	A	T	12: 113,453,996 (GRCm39)	N271I	probably benign	Het
Adgrl2	T	C	3: 148,660,223 (GRCm39)	I17V	probably null	Het
Anapc1	C	A	2: 128,483,322 (GRCm39)	G1258C	probably damaging	Het
Ank2	G	T	3: 126,738,575 (GRCm39)	H2436Q	unknown	Het
Ankrd13a	A	T	5: 114,933,806 (GRCm39)	K267*	probably null	Het
Apob	T	C	12: 8,065,990 (GRCm39)	Y4320H	probably damaging	Het
Atp2b2	T	C	6: 113,750,325 (GRCm39)	D678G	probably damaging	Het
Bhlhe41	C	A	6: 145,809,096 (GRCm39)	V239F	possibly damaging	Het
Cbfa2t2	T	G	2: 154,342,410 (GRCm39)	L42R	probably benign	Het
Ccer2	G	A	7: 28,456,113 (GRCm39)	V52M	probably damaging	Het
Ccnj	T	C	19: 40,833,383 (GRCm39)	F187S	probably damaging	Het
Cd109	G	A	9: 78,614,810 (GRCm39)	V1286I	probably benign	Het
Cfap210	T	C	2: 69,617,643 (GRCm39)	H46R	possibly damaging	Het
Cfap46	G	T	7: 139,259,849 (GRCm39)	T148N	probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Cuzd1	A	G	7: 130,923,754 (GRCm39)	F8S	probably benign	Het
Dnmbp	A	T	19: 43,840,751 (GRCm39)	D549E	probably damaging	Het
Dpp4	A	G	2: 62,204,747 (GRCm39)	L240P	probably benign	Het
Dst	A	T	1: 34,286,864 (GRCm39)	R3398S	probably damaging	Het
Eml6	A	G	11: 29,734,182 (GRCm39)	I1186T	possibly damaging	Het
Extl1	T	C	4: 134,086,435 (GRCm39)	E540G	possibly damaging	Het
Gdpd5	A	G	7: 99,103,057 (GRCm39)	I339V	probably benign	Het
Ggcx	T	C	6: 72,406,265 (GRCm39)		probably null	Het
Gm9195	A	G	14: 72,691,338 (GRCm39)	F1637L	unknown	Het
Igkv5-48	G	C	6: 69,703,616 (GRCm39)	N96K	possibly damaging	Het
Itga11	T	C	9: 62,662,922 (GRCm39)	I546T	probably damaging	Het
Map3k5	T	A	10: 19,955,000 (GRCm39)	F624L	possibly damaging	Het
Map7	T	A	10: 20,145,336 (GRCm39)		probably null	Het
Mdga2	A	T	12: 66,844,409 (GRCm39)	D196E	possibly damaging	Het
Mettl2	T	C	11: 105,019,791 (GRCm39)	C143R	probably benign	Het
Mmut	G	T	17: 41,249,481 (GRCm39)	R152L	probably benign	Het
Ncam1	G	T	9: 49,418,825 (GRCm39)	T825K	probably damaging	Het
Nucb2	C	A	7: 116,128,063 (GRCm39)	N257K	probably benign	Het
Or1e19	A	G	11: 73,316,651 (GRCm39)	S53P	probably benign	Het
Or1p1c	A	T	11: 74,160,304 (GRCm39)	I30F	probably benign	Het
Or2b7	T	A	13: 21,740,016 (GRCm39)	M59L	possibly damaging	Het
Or51i1	A	T	7: 103,670,762 (GRCm39)	Y254*	probably null	Het
Or52n1	A	T	7: 104,383,248 (GRCm39)	F108I	probably damaging	Het
Or8k38	C	T	2: 86,488,472 (GRCm39)	C110Y	probably benign	Het
Pamr1	T	A	2: 102,441,963 (GRCm39)	V184D	probably damaging	Het
Paqr9	A	T	9: 95,442,888 (GRCm39)	I293F	possibly damaging	Het
Pi15	G	T	1: 17,690,126 (GRCm39)		probably null	Het
Pkm	T	A	9: 59,578,923 (GRCm39)	I301N	probably damaging	Het
Pramel1	T	A	4: 143,123,961 (GRCm39)	I212N	probably benign	Het
Prdm6	A	T	18: 53,701,373 (GRCm39)	I549F	probably damaging	Het
Prpf8	A	G	11: 75,386,870 (GRCm39)	E1105G	probably benign	Het
Rad51b	T	A	12: 79,704,662 (GRCm39)	V274E	probably damaging	Het
Rd3l	T	A	12: 111,946,593 (GRCm39)	Y61F	probably damaging	Het
Resf1	T	A	6: 149,229,906 (GRCm39)	I984N	probably damaging	Het
Rgs11	T	C	17: 26,427,233 (GRCm39)	V388A	probably damaging	Het
Rictor	A	G	15: 6,812,566 (GRCm39)	I901V	probably benign	Het
Riox2	A	G	16: 59,312,195 (GRCm39)	D444G	probably benign	Het
Scn2a	T	A	2: 65,594,014 (GRCm39)	V1621E	probably damaging	Het
Sec11c	A	G	18: 65,945,818 (GRCm39)	I94V	possibly damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc34a1	T	C	13: 55,556,815 (GRCm39)	I337T	probably benign	Het
Slc6a19	T	C	13: 73,830,269 (GRCm39)	K516E	probably benign	Het
Slco1b2	A	T	6: 141,628,980 (GRCm39)	M596L	probably benign	Het
Smarce1	A	G	11: 99,110,511 (GRCm39)	I100T	possibly damaging	Het
Tekt2	T	C	4: 126,217,266 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,461,177 (GRCm39)	N908Y	probably damaging	Het
Tex38	A	G	4: 115,637,792 (GRCm39)	S4P	probably benign	Het
Top2b	T	A	14: 16,393,239 (GRCm38)	H299Q	probably benign	Het
Trim55	C	A	3: 19,713,341 (GRCm39)	R131S	probably benign	Het
Vmn2r109	A	T	17: 20,774,531 (GRCm39)	Y275N	possibly damaging	Het
Vmn2r116	C	T	17: 23,605,916 (GRCm39)	T276I	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
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
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'- GCATATGGGAAACATCCTAGGG -3'
(R):5'- TGCCAGTCTGTAGATGGTGC -3'

Sequencing Primer
(F):5'- AGAACAGCTAGGTCCCTTGTC -3'
(R):5'- ATGGTGCCTGTTCGAAGTCATCTC -3'

Posted On

2021-10-11