Mutagenetix > Incidental Mutation

Incidental Mutation 'R0622:Stk32c'

58732

Institutional Source

Beutler Lab

Gene Symbol

Stk32c

Ensembl Gene

ENSMUSG00000015981

Gene Name

serine/threonine kinase 32C

Synonyms

Pkek, YANK3

MMRRC Submission

038811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0622 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

138683554-138793223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138768026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 85 (D85G)

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: D85G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: D85G

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: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

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
Agtr1a	T	A	13: 30,565,664 (GRCm39)	M243K	probably benign	Het
Ap1b1	A	G	11: 4,987,707 (GRCm39)	M744V	probably damaging	Het
Ccdc152	T	C	15: 3,327,660 (GRCm39)	N39S	probably damaging	Het
Cd163	G	A	6: 124,294,311 (GRCm39)	V490M	probably damaging	Het
Col6a5	G	T	9: 105,803,051 (GRCm39)	H1305N	unknown	Het
Cpb1	C	A	3: 20,303,982 (GRCm39)	D361Y	probably damaging	Het
Dchs1	T	A	7: 105,412,656 (GRCm39)	Y1248F	probably damaging	Het
Dhdds	G	C	4: 133,721,547 (GRCm39)	F83L	probably damaging	Het
Dsg4	T	A	18: 20,582,845 (GRCm39)	V161E	possibly damaging	Het
Exosc4	A	G	15: 76,211,736 (GRCm39)	D15G	probably damaging	Het
F3	A	T	3: 121,518,668 (GRCm39)	D44V	probably damaging	Het
Fat2	A	T	11: 55,173,954 (GRCm39)	F2253Y	probably damaging	Het
Fbn1	T	C	2: 125,220,944 (GRCm39)	D650G	possibly damaging	Het
Gramd4	T	A	15: 85,975,590 (GRCm39)	F36I	probably damaging	Het
Grm7	G	A	6: 111,335,457 (GRCm39)	A623T	probably damaging	Het
Gys1	A	T	7: 45,089,419 (GRCm39)	T193S	probably damaging	Het
Hectd4	A	G	5: 121,486,688 (GRCm39)	T3228A	possibly damaging	Het
Itpk1	G	T	12: 102,540,239 (GRCm39)	D281E	probably damaging	Het
Kcnh7	A	C	2: 62,667,633 (GRCm39)		probably null	Het
Klhl29	A	G	12: 5,131,224 (GRCm39)	L852P	probably damaging	Het
Lrch1	T	C	14: 75,033,491 (GRCm39)	Y509C	probably benign	Het
Lrp1b	A	G	2: 41,618,563 (GRCm39)		probably null	Het
Mcpt4	C	A	14: 56,298,119 (GRCm39)	R144L	probably benign	Het
Mia2	C	T	12: 59,178,364 (GRCm39)	R12W	probably damaging	Het
Mrps5	A	G	2: 127,436,451 (GRCm39)	K116R	probably benign	Het
Myrf	G	A	19: 10,200,816 (GRCm39)	P286S	probably damaging	Het
Nanp	A	G	2: 150,881,164 (GRCm39)	M28T	probably benign	Het
Neb	T	C	2: 52,102,963 (GRCm39)	I4472V	probably benign	Het
Nfix	A	C	8: 85,453,111 (GRCm39)	N314K	probably damaging	Het
Nlrc3	C	T	16: 3,771,832 (GRCm39)	R849Q	probably benign	Het
Nup210l	G	A	3: 90,075,047 (GRCm39)	V786M	probably damaging	Het
Or2t44	T	C	11: 58,677,167 (GRCm39)	S36P	probably damaging	Het
Or52ad1	A	G	7: 102,996,064 (GRCm39)	S24P	probably damaging	Het
Or6z5	T	C	7: 6,477,598 (GRCm39)	I163T	possibly damaging	Het
Or8c20	A	G	9: 38,260,667 (GRCm39)	N96S	possibly damaging	Het
Pdia4	A	T	6: 47,783,452 (GRCm39)	F197Y	probably damaging	Het
Phldb1	T	C	9: 44,627,149 (GRCm39)	D432G	probably damaging	Het
Pik3ca	A	G	3: 32,490,701 (GRCm39)	E116G	probably damaging	Het
Polq	T	C	16: 36,881,355 (GRCm39)	V1173A	probably benign	Het
Pou2f3	C	T	9: 43,036,414 (GRCm39)	R423H	probably damaging	Het
Pramel29	T	C	4: 143,939,583 (GRCm39)		probably benign	Het
Prkag2	T	C	5: 25,074,247 (GRCm39)	N246S	probably damaging	Het
Proser1	A	G	3: 53,385,281 (GRCm39)	S388G	probably benign	Het
Ralgps1	G	A	2: 33,064,459 (GRCm39)	R238*	probably null	Het
Rfx2	T	C	17: 57,084,071 (GRCm39)	D657G	probably damaging	Het
Ryr3	A	G	2: 112,492,900 (GRCm39)	F3724S	probably damaging	Het
Sh2d5	T	C	4: 137,986,539 (GRCm39)	S421P	probably damaging	Het
Slc34a1	C	A	13: 23,996,594 (GRCm39)	T33K	probably damaging	Het
St8sia5	A	G	18: 77,333,809 (GRCm39)	T156A	probably damaging	Het
Tnks	A	G	8: 35,407,976 (GRCm39)	S251P	probably damaging	Het
Tnxb	T	A	17: 34,937,703 (GRCm39)	L3864Q	probably damaging	Het
Trim9	A	G	12: 70,393,378 (GRCm39)	Y189H	probably damaging	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Wasf3	A	G	5: 146,403,602 (GRCm39)		probably null	Het
Wdr90	C	T	17: 26,074,632 (GRCm39)	C603Y	probably damaging	Het
Zdhhc25	T	C	15: 88,485,310 (GRCm39)	L215P	probably damaging	Het
Zeb1	C	T	18: 5,759,123 (GRCm39)	Q140*	probably null	Het
Zfp677	C	T	17: 21,617,962 (GRCm39)	L340F	probably benign	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
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
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'- AGACTCCCCAAGAAGTGGTCCC -3'
(R):5'- CCGCGAACTAGACCCTTTTCCG -3'

Sequencing Primer
(F):5'- AGAAGTGGTCCCACCCAG -3'
(R):5'- tccaccctgagtccacc -3'

Posted On

2013-07-11