Mutagenetix > Incidental Mutation

Incidental Mutation 'R6458:Srek1'

517454

Institutional Source

Beutler Lab

Gene Symbol

Srek1

Ensembl Gene

ENSMUSG00000032621

Gene Name

splicing regulatory glutamine/lysine-rich protein 1

Synonyms

SRrp86, Sfrs12, AL118220, SRrp508

MMRRC Submission

044593-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R6458 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103875856-103911116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103880076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 494 (V494E)

Ref Sequence

ENSEMBL: ENSMUSP00000147737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074616] [ENSMUST00000210489]

AlphaFold

Q8BZX4

Predicted Effect

unknown
Transcript: ENSMUST00000074616
AA Change: V610E

SMART Domains

Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: V610E

Domain	Start	End	E-Value	Type
low complexity region	22	33	N/A	INTRINSIC
RRM	70	141	1.22e-18	SMART
coiled coil region	259	298	N/A	INTRINSIC
low complexity region	356	395	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	414	427	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210269

Predicted Effect

probably benign
Transcript: ENSMUST00000210489
AA Change: V494E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211491

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.3%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,655 (GRCm39)	V28A	possibly damaging	Het
Ak1	T	A	2: 32,520,385 (GRCm39)	M61K	probably damaging	Het
Akap12	T	C	10: 4,305,148 (GRCm39)	S653P	probably damaging	Het
Anapc4	G	A	5: 53,021,895 (GRCm39)	R659H	possibly damaging	Het
Arel1	T	C	12: 84,987,159 (GRCm39)	N86D	possibly damaging	Het
Bco1	A	G	8: 117,854,245 (GRCm39)	D390G	possibly damaging	Het
Ccr1l1	A	T	9: 123,778,203 (GRCm39)	D81E	probably damaging	Het
Chd1	A	T	17: 15,950,864 (GRCm39)	N185I	probably benign	Het
Clca4b	T	G	3: 144,617,088 (GRCm39)	N854T	possibly damaging	Het
Col4a4	T	C	1: 82,433,546 (GRCm39)	T1466A	unknown	Het
Cxcr4	T	C	1: 128,516,831 (GRCm39)	I277V	probably benign	Het
Dgkq	A	G	5: 108,802,242 (GRCm39)	V441A	possibly damaging	Het
Dnah10	G	T	5: 124,886,333 (GRCm39)	L3030F	probably damaging	Het
Epg5	T	A	18: 77,991,469 (GRCm39)	D55E	probably benign	Het
Ermap	A	T	4: 119,035,337 (GRCm39)	N550K	probably damaging	Het
Fnbp1l	A	T	3: 122,350,089 (GRCm39)	I374N	probably damaging	Het
Gadl1	T	A	9: 115,870,070 (GRCm39)	*479K	probably null	Het
Gm5591	T	A	7: 38,218,459 (GRCm39)	T805S	probably damaging	Het
H2-T3	A	T	17: 36,497,911 (GRCm39)	M334K	possibly damaging	Het
Ihh	C	T	1: 74,985,601 (GRCm39)	A295T	probably damaging	Het
Il18r1	T	A	1: 40,530,342 (GRCm39)	Y356*	probably null	Het
Lingo3	A	G	10: 80,671,150 (GRCm39)	V260A	probably damaging	Het
Lrp2	T	G	2: 69,335,500 (GRCm39)	M1408L	probably benign	Het
Mical1	C	A	10: 41,360,731 (GRCm39)	H657N	probably benign	Het
Mpp2	T	A	11: 101,971,595 (GRCm39)	M12L	probably benign	Het
Muc16	A	T	9: 18,553,017 (GRCm39)	D4425E	probably benign	Het
Muc4	T	A	16: 32,579,694 (GRCm39)		probably null	Het
Myt1l	T	A	12: 29,945,298 (GRCm39)	F1021Y	unknown	Het
Nbas	T	C	12: 13,338,750 (GRCm39)	S197P	probably damaging	Het
Nckap1	T	C	2: 80,342,893 (GRCm39)		probably null	Het
Nek1	T	G	8: 61,553,046 (GRCm39)	V903G	probably benign	Het
Or14c43	A	G	7: 86,114,888 (GRCm39)	I90V	probably damaging	Het
Or1e18-ps1	T	G	11: 73,279,517 (GRCm39)	S112R	probably damaging	Het
Or4p22	T	A	2: 88,317,562 (GRCm39)	I162N	possibly damaging	Het
Or8b40	T	C	9: 38,027,350 (GRCm39)	V91A	possibly damaging	Het
Ppm1j	T	C	3: 104,688,560 (GRCm39)	V53A	probably benign	Het
Ralgapb	T	A	2: 158,286,540 (GRCm39)	D328E	probably damaging	Het
Rgma	T	A	7: 73,059,442 (GRCm39)	V88E	probably damaging	Het
Slc30a6	A	G	17: 74,730,108 (GRCm39)	T333A	probably damaging	Het
Spr	T	C	6: 85,114,039 (GRCm39)		probably null	Het
Ston1	A	T	17: 88,942,731 (GRCm39)	T46S	probably benign	Het
Stox2	T	C	8: 47,645,079 (GRCm39)	K858E	possibly damaging	Het
Thoc1	G	A	18: 9,993,333 (GRCm39)	R564Q	probably benign	Het
Thoc2l	A	T	5: 104,670,169 (GRCm39)	I1564L	probably benign	Het
Tmc5	T	A	7: 118,244,539 (GRCm39)	N472K	probably damaging	Het
Ttc41	A	G	10: 86,594,134 (GRCm39)	T856A	possibly damaging	Het
Ttn	A	T	2: 76,608,854 (GRCm39)	W17721R	probably damaging	Het
Vmn1r69	A	G	7: 10,314,365 (GRCm39)	I43T	probably benign	Het
Vmn2r56	T	A	7: 12,427,984 (GRCm39)	I761F	probably damaging	Het
Zfp109	T	C	7: 23,927,870 (GRCm39)	D521G	probably benign	Het
Zfp516	A	G	18: 83,005,475 (GRCm39)	H793R	probably benign	Het
Zfp800	A	T	6: 28,244,215 (GRCm39)	I250N	probably damaging	Het
Zpbp	T	A	11: 11,358,538 (GRCm39)	Y243F	probably damaging	Het

Other mutations in Srek1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01756:Srek1	APN	13	103,897,090 (GRCm39)	missense	probably damaging	1.00
IGL01834:Srek1	APN	13	103,885,293 (GRCm39)	unclassified	probably benign
IGL03029:Srek1	APN	13	103,900,468 (GRCm39)	utr 5 prime	probably benign
IGL03198:Srek1	APN	13	103,881,443 (GRCm39)	splice site	probably null
IGL03284:Srek1	APN	13	103,897,045 (GRCm39)	missense	probably damaging	0.96
inscruitable	UTSW	13	103,910,894 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Srek1	UTSW	13	103,881,291 (GRCm39)	critical splice donor site	probably null
R0080:Srek1	UTSW	13	103,880,194 (GRCm39)	missense	unknown
R0082:Srek1	UTSW	13	103,880,194 (GRCm39)	missense	unknown
R0106:Srek1	UTSW	13	103,880,131 (GRCm39)	missense	unknown
R0106:Srek1	UTSW	13	103,880,131 (GRCm39)	missense	unknown
R0506:Srek1	UTSW	13	103,897,098 (GRCm39)	missense	probably damaging	0.99
R0569:Srek1	UTSW	13	103,885,370 (GRCm39)	unclassified	probably benign
R0969:Srek1	UTSW	13	103,889,011 (GRCm39)	unclassified	probably benign
R1617:Srek1	UTSW	13	103,880,112 (GRCm39)	missense	unknown
R2098:Srek1	UTSW	13	103,881,363 (GRCm39)	missense	unknown
R2423:Srek1	UTSW	13	103,889,536 (GRCm39)	nonsense	probably null
R3950:Srek1	UTSW	13	103,881,403 (GRCm39)	missense	unknown
R4347:Srek1	UTSW	13	103,885,267 (GRCm39)	missense	probably null
R4676:Srek1	UTSW	13	103,894,695 (GRCm39)	splice site	probably benign
R4915:Srek1	UTSW	13	103,889,194 (GRCm39)	utr 3 prime	probably benign
R4915:Srek1	UTSW	13	103,889,071 (GRCm39)	unclassified	probably benign
R5119:Srek1	UTSW	13	103,889,064 (GRCm39)	unclassified	probably benign
R5677:Srek1	UTSW	13	103,895,752 (GRCm39)	missense	probably damaging	0.98
R6135:Srek1	UTSW	13	103,910,894 (GRCm39)	missense	probably damaging	1.00
R7406:Srek1	UTSW	13	103,905,890 (GRCm39)	missense	probably damaging	1.00
R8537:Srek1	UTSW	13	103,888,957 (GRCm39)	unclassified	probably benign
R9269:Srek1	UTSW	13	103,889,654 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGACTTCAGAAGATGGTCAG -3'
(R):5'- GTCATACATAACCGTGCACG -3'

Sequencing Primer
(F):5'- CAGACTTCAGAAGATGGTCAGTTTGG -3'
(R):5'- CGATAGTAAGCATGCACTTGGTG -3'

Posted On

2018-05-21