Mutagenetix > Incidental Mutation

Incidental Mutation 'R8440:Stk19'

660406

Institutional Source

Beutler Lab

Gene Symbol

Stk19

Ensembl Gene

ENSMUSG00000061207

Gene Name

serine/threonine kinase 19

Synonyms

RP1, G11

MMRRC Submission

067884-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.398) question?

Stock #

R8440 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35042969-35055879 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35055456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 60 (S60G)

Ref Sequence

ENSEMBL: ENSMUSP00000124667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046022] [ENSMUST00000046244] [ENSMUST00000077477] [ENSMUST00000159333] [ENSMUST00000161885] [ENSMUST00000172612] [ENSMUST00000173063] [ENSMUST00000173415] [ENSMUST00000173874] [ENSMUST00000173995] [ENSMUST00000174092] [ENSMUST00000180043]

AlphaFold

Q9JHN8

Predicted Effect

probably benign
Transcript: ENSMUST00000046022

SMART Domains

Protein: ENSMUSP00000036265
Gene: ENSMUSG00000040356

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
low complexity region	171	176	N/A	INTRINSIC
low complexity region	208	237	N/A	INTRINSIC
low complexity region	269	279	N/A	INTRINSIC
DEXDc	304	487	3.61e-28	SMART
low complexity region	583	592	N/A	INTRINSIC
HELICc	619	705	8.63e-17	SMART
Pfam:rRNA_proc-arch	760	1044	9.7e-39	PFAM
DSHCT	1067	1243	7.67e-77	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046244

SMART Domains

Protein: ENSMUSP00000047018
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	303	2e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077477
AA Change: S63G

PolyPhen 2 Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000076686
Gene: ENSMUSG00000061207
AA Change: S63G

Domain	Start	End	E-Value	Type
Pfam:Stk19	37	251	1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159333

SMART Domains

Protein: ENSMUSP00000125311
Gene: ENSMUSG00000061207

Domain	Start	End	E-Value	Type
Pfam:Stk19	1	129	3.2e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161885
AA Change: S60G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000162055

Predicted Effect

probably benign
Transcript: ENSMUST00000172612

SMART Domains

Protein: ENSMUSP00000133376
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	5	73	1.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173063

Predicted Effect

probably benign
Transcript: ENSMUST00000173415

SMART Domains

Protein: ENSMUSP00000134209
Gene: ENSMUSG00000040356

Domain	Start	End	E-Value	Type
PDB:4A4Z\|A	10	81	8e-14	PDB
Blast:DEXDc	19	76	2e-29	BLAST
Blast:DEXDc	136	242	9e-28	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000173874

SMART Domains

Protein: ENSMUSP00000134332
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	303	4.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173995

SMART Domains

Protein: ENSMUSP00000134583
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
PDB:3FQJ\|A	1	144	5e-99	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000174092

SMART Domains

Protein: ENSMUSP00000133587
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	110	151	5.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174569

SMART Domains

Protein: ENSMUSP00000133448
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
Pfam:RAI1	15	65	1.3e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174684

SMART Domains

Protein: ENSMUSP00000134653
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
PDB:3FQJ\|A	2	48	1e-11	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000180043

SMART Domains

Protein: ENSMUSP00000137234
Gene: ENSMUSG00000040482

Domain	Start	End	E-Value	Type
low complexity region	168	184	N/A	INTRINSIC
Pfam:RAI1	235	302	2e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (38/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine kinase which localizes predominantly to the nucleus. Its specific function is unknown; it is possible that phosphorylation of this protein is involved in transcriptional regulation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6 and expresses two transcript variants. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak5	G	C	3: 152,209,680 (GRCm39)		probably null	Het
Bbs9	T	A	9: 22,479,046 (GRCm39)	V163E	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cbr3	T	C	16: 93,480,421 (GRCm39)	I70T	probably damaging	Het
Chka	T	C	19: 3,943,375 (GRCm39)	Y426H	probably damaging	Het
Cpq	T	A	15: 33,213,341 (GRCm39)	M120K	possibly damaging	Het
Dcaf1	T	A	9: 106,725,073 (GRCm39)	C520S	possibly damaging	Het
Egfr	T	C	11: 16,859,831 (GRCm39)	Y1018H	probably damaging	Het
Eif3l	T	C	15: 78,961,120 (GRCm39)	Y58H	possibly damaging	Het
Frmd8	T	C	19: 5,915,202 (GRCm39)	Y234C	possibly damaging	Het
Fus	T	C	7: 127,568,998 (GRCm39)	Y50H	unknown	Het
Hmcn1	T	A	1: 150,570,671 (GRCm39)	Q2164L	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hsd11b1	T	C	1: 192,904,420 (GRCm39)	K260E	probably benign	Het
Igkv4-91	C	T	6: 68,745,556 (GRCm39)	G114D	probably benign	Het
Inpp4b	G	A	8: 82,768,524 (GRCm39)	E678K	probably damaging	Het
Kifc3	G	T	8: 95,836,422 (GRCm39)	P113Q	possibly damaging	Het
Lgi4	T	A	7: 30,760,049 (GRCm39)		probably null	Het
Map1s	A	G	8: 71,365,163 (GRCm39)	N107D	probably damaging	Het
Meiob	G	T	17: 25,037,302 (GRCm39)	C60F	probably benign	Het
Nedd4l	G	T	18: 65,022,126 (GRCm39)		probably null	Het
Omp	A	G	7: 97,794,253 (GRCm39)	F125L	probably damaging	Het
Or1ad6	T	C	11: 50,860,024 (GRCm39)	Y60H	probably damaging	Het
Or51h1	G	A	7: 102,308,275 (GRCm39)	M82I	probably damaging	Het
Or5a1	C	T	19: 12,097,308 (GRCm39)	C244Y	probably damaging	Het
Pcdha3	T	C	18: 37,080,914 (GRCm39)	V552A	probably damaging	Het
Plek	T	C	11: 16,945,276 (GRCm39)	D18G	possibly damaging	Het
Ppip5k2	T	C	1: 97,675,276 (GRCm39)	T376A	probably damaging	Het
Prkdc	CAAA	CAAAA	16: 15,653,022 (GRCm39)	3833	probably null	Het
Rabgap1	T	C	2: 37,432,692 (GRCm39)		probably null	Het
Rtn1	T	A	12: 72,270,173 (GRCm39)	I113F	probably damaging	Het
Ssu2	T	A	6: 112,364,950 (GRCm39)	D4V	probably benign	Het
St6galnac2	T	C	11: 116,568,374 (GRCm39)	H363R	probably damaging	Het
Suco	G	A	1: 161,679,907 (GRCm39)	T332I	probably damaging	Het
Trbv20	T	A	6: 41,165,892 (GRCm39)	Y106N	probably damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn1r128	G	A	7: 21,083,745 (GRCm39)	V150I	probably benign	Het
Vmn2r54	A	T	7: 12,350,013 (GRCm39)	V523E	possibly damaging	Het
Vmn2r61	A	T	7: 41,916,080 (GRCm39)	E231V	probably benign	Het
Xkr9	A	G	1: 13,771,603 (GRCm39)	D373G	probably benign	Het
Zfp592	G	C	7: 80,691,271 (GRCm39)	S1150T	possibly damaging	Het

Other mutations in Stk19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02192:Stk19	APN	17	35,051,134 (GRCm39)	unclassified	probably benign
R0087:Stk19	UTSW	17	35,055,851 (GRCm39)	start codon destroyed	probably null	0.53
R1613:Stk19	UTSW	17	35,043,574 (GRCm39)	missense	probably damaging	0.99
R2166:Stk19	UTSW	17	35,051,486 (GRCm39)	missense	possibly damaging	0.77
R3946:Stk19	UTSW	17	35,043,723 (GRCm39)	splice site	probably benign
R4510:Stk19	UTSW	17	35,051,504 (GRCm39)	missense	probably damaging	0.97
R4511:Stk19	UTSW	17	35,051,504 (GRCm39)	missense	probably damaging	0.97
R4721:Stk19	UTSW	17	35,042,120 (GRCm39)	splice site	probably null
R4798:Stk19	UTSW	17	35,041,485 (GRCm39)	unclassified	probably benign
R5225:Stk19	UTSW	17	35,040,400 (GRCm39)	unclassified	probably benign
R5244:Stk19	UTSW	17	35,051,046 (GRCm39)	missense	probably damaging	1.00
R5594:Stk19	UTSW	17	35,039,538 (GRCm39)	unclassified	probably benign
R6332:Stk19	UTSW	17	35,043,574 (GRCm39)	missense	probably damaging	0.99
R6692:Stk19	UTSW	17	35,043,770 (GRCm39)	missense	probably benign	0.00
R7529:Stk19	UTSW	17	35,043,632 (GRCm39)	missense	probably benign	0.03
R9261:Stk19	UTSW	17	35,051,432 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- AACCCCTGGGATTTGCTCTG -3'
(R):5'- GTAGTAACCATGGCAACCCAGG -3'

Sequencing Primer
(F):5'- GCATTTGCCTTGGCCTAACG -3'
(R):5'- TGGGCAGCGACTCTGAG -3'

Posted On

2021-01-18