Mutagenetix > Incidental Mutation

Incidental Mutation 'R8941:Snrk'

680995

Institutional Source

Beutler Lab

Gene Symbol

Snrk

Ensembl Gene

ENSMUSG00000038145

Gene Name

SNF related kinase

Synonyms

SNRK, 2010012F07Rik

MMRRC Submission

068781-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.733) question?

Stock #

R8941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121946332-121998768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121989597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 314 (V314I)

Ref Sequence

ENSEMBL: ENSMUSP00000119878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118886] [ENSMUST00000119215] [ENSMUST00000120173] [ENSMUST00000134949]

AlphaFold

Q8VDU5

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114132
Gene: ENSMUSG00000038145
AA Change: V314I

Domain	Start	End	E-Value	Type
S_TKc	16	269	6.85e-104	SMART
Blast:S_TKc	361	671	6e-91	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000119215

SMART Domains

Protein: ENSMUSP00000113906
Gene: ENSMUSG00000038145

Domain	Start	End	E-Value	Type
S_TKc	16	219	8.7e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120173
AA Change: V314I

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

SMART Domains

Protein: ENSMUSP00000112919
Gene: ENSMUSG00000038145
AA Change: V314I

Domain	Start	End	E-Value	Type
S_TKc	16	269	6.85e-104	SMART
Blast:S_TKc	361	671	6e-91	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000134949
AA Change: V314I

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

SMART Domains

Protein: ENSMUSP00000119878
Gene: ENSMUSG00000038145
AA Change: V314I

Domain	Start	End	E-Value	Type
S_TKc	16	269	6.85e-104	SMART
Blast:S_TKc	361	409	1e-17	BLAST

Meta Mutation Damage Score

0.0701

Coding Region Coverage

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

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SNRK is a member of the sucrose nonfermenting (SNF)-related kinase family of serine/threonine kinases (Kertesz et al., 2002 [PubMed 12234663]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality with enlarged left ventricle and altered lipid levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,679 (GRCm39)	T103S	probably benign	Het
Aadacl2fm3	A	G	3: 59,784,400 (GRCm39)	Y291C	probably damaging	Het
Aass	A	T	6: 23,075,261 (GRCm39)		probably benign	Het
Adgrb3	A	T	1: 25,133,235 (GRCm39)	C1284S	probably damaging	Het
Adora2a	G	A	10: 75,169,559 (GRCm39)	W341*	probably null	Het
Afg2a	T	A	3: 37,486,142 (GRCm39)	L288H	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Asic5	A	T	3: 81,913,915 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,195,270 (GRCm39)	D266G	possibly damaging	Het
Cfap57	A	T	4: 118,426,799 (GRCm39)	Y1080N	probably damaging	Het
Chat	C	T	14: 32,130,963 (GRCm39)	M559I	probably benign	Het
Chd5	G	A	4: 152,463,305 (GRCm39)	S1425N	possibly damaging	Het
Cog8	T	C	8: 107,783,202 (GRCm39)	D29G	probably damaging	Het
Cox15	A	G	19: 43,732,172 (GRCm39)	S215P	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Dbt	T	C	3: 116,339,698 (GRCm39)	V362A	probably damaging	Het
Dio1	C	A	4: 107,164,147 (GRCm39)	A57S	probably benign	Het
F5	C	A	1: 164,026,440 (GRCm39)	H1671N	probably benign	Het
Gm6309	A	G	5: 146,107,155 (GRCm39)	Y64H	probably damaging	Het
Hipk1	A	G	3: 103,660,743 (GRCm39)	C731R	probably damaging	Het
Hmgcl	G	A	4: 135,683,015 (GRCm39)	A156T	probably damaging	Het
Il15ra	A	T	2: 11,737,995 (GRCm39)	T210S	possibly damaging	Het
Kat8	T	C	7: 127,524,400 (GRCm39)	L426P	probably damaging	Het
Lrrc39	G	T	3: 116,359,496 (GRCm39)	V14L	probably damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mdm4	T	C	1: 132,919,671 (GRCm39)	H398R	probably benign	Het
Mroh2b	A	T	15: 4,991,606 (GRCm39)	Q1568L	possibly damaging	Het
Myo18b	G	A	5: 113,022,795 (GRCm39)		probably benign	Het
Nr4a3	C	A	4: 48,051,756 (GRCm39)	P170Q	possibly damaging	Het
Ntrk2	A	G	13: 59,208,109 (GRCm39)	M652V	probably damaging	Het
Or10n7-ps1	A	T	9: 39,597,812 (GRCm39)	*143K	probably null	Het
Or5b95	G	A	19: 12,657,471 (GRCm39)		probably benign	Het
Paxbp1	T	C	16: 90,832,815 (GRCm39)	I325V	possibly damaging	Het
Pcare	T	C	17: 72,059,137 (GRCm39)	H180R	probably benign	Het
Pi4ka	G	T	16: 17,114,807 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,825,380 (GRCm39)	S421P	probably damaging	Het
Pou6f1	T	A	15: 100,489,742 (GRCm39)	D74V	probably damaging	Het
Prpsap2	C	A	11: 61,627,870 (GRCm39)	R202L	probably damaging	Het
Ptprn	A	T	1: 75,228,407 (GRCm39)	L890Q	probably damaging	Het
Ramp1	C	G	1: 91,134,137 (GRCm39)	P97A	probably benign	Het
Rapgefl1	A	G	11: 98,731,101 (GRCm39)	D179G	probably damaging	Het
Rbp3	T	A	14: 33,678,486 (GRCm39)	F811L	possibly damaging	Het
Rnf213	C	A	11: 119,305,250 (GRCm39)	L494M	probably damaging	Het
Rpl4	A	G	9: 64,082,245 (GRCm39)	N48S	probably benign	Het
Rsbn1l	A	G	5: 21,110,841 (GRCm39)	V499A	probably damaging	Het
Sacs	A	G	14: 61,430,022 (GRCm39)	T691A	probably benign	Het
Sass6	T	C	3: 116,407,709 (GRCm39)	V275A	probably benign	Het
Sdcbp	T	C	4: 6,393,661 (GRCm39)	S259P	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Slc12a4	C	T	8: 106,673,322 (GRCm39)		probably null	Het
Tas1r3	C	T	4: 155,947,600 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,320,195 (GRCm39)	V560E	probably damaging	Het
Trdmt1	A	G	2: 13,526,918 (GRCm39)	Y144H	probably benign	Het
Trim42	T	C	9: 97,245,100 (GRCm39)	T567A	probably benign	Het
Tsbp1	A	C	17: 34,678,973 (GRCm39)	R228S	possibly damaging	Het
Tuba4a	T	C	1: 75,193,945 (GRCm39)	D74G	probably benign	Het
Ube3c	G	A	5: 29,842,769 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,375,311 (GRCm39)	D375G	probably benign	Het
Zfp729b	A	G	13: 67,741,218 (GRCm39)	M349T	possibly damaging	Het

Other mutations in Snrk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02252:Snrk	APN	9	121,986,326 (GRCm39)	missense	probably damaging	1.00
saadat	UTSW	9	121,995,610 (GRCm39)	missense	possibly damaging	0.95
R0017:Snrk	UTSW	9	121,995,306 (GRCm39)	missense	probably damaging	1.00
R0564:Snrk	UTSW	9	121,995,610 (GRCm39)	missense	possibly damaging	0.95
R1282:Snrk	UTSW	9	121,989,586 (GRCm39)	missense	possibly damaging	0.77
R3835:Snrk	UTSW	9	121,966,069 (GRCm39)	start gained	probably benign
R5116:Snrk	UTSW	9	121,989,396 (GRCm39)	missense	probably benign	0.01
R5722:Snrk	UTSW	9	121,993,072 (GRCm39)	missense	probably benign	0.00
R5995:Snrk	UTSW	9	121,986,288 (GRCm39)	missense	probably damaging	1.00
R6437:Snrk	UTSW	9	121,995,879 (GRCm39)	missense	probably damaging	0.99
R6828:Snrk	UTSW	9	121,966,632 (GRCm39)	missense	probably damaging	1.00
R7432:Snrk	UTSW	9	121,986,276 (GRCm39)	missense	probably damaging	1.00
R7476:Snrk	UTSW	9	121,986,288 (GRCm39)	missense	probably damaging	1.00
R8284:Snrk	UTSW	9	121,989,538 (GRCm39)	missense	probably damaging	1.00
R8779:Snrk	UTSW	9	121,995,688 (GRCm39)	missense	probably damaging	0.99
R9385:Snrk	UTSW	9	121,995,463 (GRCm39)	missense	probably benign	0.27
R9426:Snrk	UTSW	9	121,986,326 (GRCm39)	missense	probably damaging	1.00
R9627:Snrk	UTSW	9	121,966,427 (GRCm39)	nonsense	probably null
R9695:Snrk	UTSW	9	121,995,640 (GRCm39)	missense	probably benign	0.43

Predicted Primers

PCR Primer
(F):5'- CCAAAAGGAGAGCCTCTCTG -3'
(R):5'- GGGACCATTCATTCCATCCTG -3'

Sequencing Primer
(F):5'- TCTGGAAGAGATTGAAAGCCACCC -3'
(R):5'- TTCCATCCTGGTAAGTACAGAGCAG -3'

Posted On

2021-08-31