Mutagenetix > Incidental Mutation

Incidental Mutation 'R1617:Srek1'

174387

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

039654-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R1617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103875856-103911116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103880112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 482 (P482Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147737 (fasta)

Gene Model

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

AlphaFold

Q8BZX4

Predicted Effect

unknown
Transcript: ENSMUST00000074616
AA Change: P598Q

SMART Domains

Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: P598Q

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

unknown
Transcript: ENSMUST00000210489
AA Change: P482Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211491

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

98% (83/85)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,473 (GRCm39)	I91K	probably damaging	Het
AAdacl4fm3	T	G	4: 144,441,961 (GRCm39)	T97P	probably damaging	Het
Adamts16	T	A	13: 70,946,154 (GRCm39)	M254L	probably benign	Het
Adgre5	T	C	8: 84,456,806 (GRCm39)	I192V	possibly damaging	Het
Akr1c21	G	A	13: 4,626,351 (GRCm39)		probably null	Het
Amz2	A	G	11: 109,324,850 (GRCm39)	T245A	probably benign	Het
Aqp7	A	C	4: 41,036,109 (GRCm39)	M43R	probably null	Het
Arid3c	G	A	4: 41,725,103 (GRCm39)	P315S	probably damaging	Het
Birc2	A	T	9: 7,826,952 (GRCm39)	Y345N	possibly damaging	Het
Blnk	T	C	19: 40,950,807 (GRCm39)	T115A	probably benign	Het
Col5a1	T	C	2: 27,842,393 (GRCm39)	S423P	unknown	Het
Corin	A	T	5: 72,661,295 (GRCm39)	F66Y	possibly damaging	Het
Cpd	A	T	11: 76,737,495 (GRCm39)	W100R	probably damaging	Het
Cpsf1	A	T	15: 76,486,570 (GRCm39)	Y296*	probably null	Het
Cyp2d34	T	C	15: 82,505,046 (GRCm39)	T5A	probably benign	Het
Dhrs7c	G	T	11: 67,705,903 (GRCm39)	V219L	possibly damaging	Het
Dnah3	T	C	7: 119,689,169 (GRCm39)	M82V	probably benign	Het
Dnah9	A	G	11: 65,786,747 (GRCm39)	S3629P	probably damaging	Het
Fbrs	T	C	7: 127,086,883 (GRCm39)	L33P	probably damaging	Het
Fhip1b	A	G	7: 105,034,269 (GRCm39)	L454P	probably damaging	Het
Galnt11	T	A	5: 25,463,891 (GRCm39)	S388T	probably damaging	Het
Glmp	A	G	3: 88,235,426 (GRCm39)		probably benign	Het
Gm9894	A	G	13: 67,920,845 (GRCm39)		noncoding transcript	Het
Grik3	A	G	4: 125,584,985 (GRCm39)	M618V	probably benign	Het
Hmcn1	T	C	1: 150,620,778 (GRCm39)	D1144G	probably damaging	Het
Hnrnpa2b1	T	C	6: 51,443,378 (GRCm39)	K161R	possibly damaging	Het
Kmt2c	T	C	5: 25,580,925 (GRCm39)	I523V	probably benign	Het
Lmln	C	T	16: 32,937,500 (GRCm39)	P622S	probably damaging	Het
Lmtk2	A	G	5: 144,110,680 (GRCm39)	T467A	probably damaging	Het
Map1s	T	A	8: 71,366,095 (GRCm39)	N333K	probably damaging	Het
Mgat4d	C	A	8: 84,092,340 (GRCm39)	A242D	probably damaging	Het
Muc5b	T	A	7: 141,417,261 (GRCm39)	Y3402*	probably null	Het
Myo3b	G	T	2: 70,111,562 (GRCm39)	A922S	probably benign	Het
Nphs1	T	C	7: 30,181,956 (GRCm39)	V1183A	probably benign	Het
Nup160	T	A	2: 90,509,843 (GRCm39)	C31S	probably benign	Het
Or4c58	T	C	2: 89,674,598 (GRCm39)	T240A	probably benign	Het
Or8k25	A	T	2: 86,244,035 (GRCm39)	Y120*	probably null	Het
Pcdhb5	T	G	18: 37,454,455 (GRCm39)	Y278*	probably null	Het
Pkhd1	T	A	1: 20,268,274 (GRCm39)	E3368V	possibly damaging	Het
Pla2g6	A	G	15: 79,173,341 (GRCm39)	M676T	probably benign	Het
Plcb1	A	T	2: 135,179,361 (GRCm39)	N590Y	probably damaging	Het
Prr12	G	A	7: 44,699,018 (GRCm39)		probably benign	Het
Psat1	A	G	19: 15,901,666 (GRCm39)		probably null	Het
Ptpn9	T	G	9: 56,934,692 (GRCm39)	I152S	possibly damaging	Het
Ric8b	T	A	10: 84,783,475 (GRCm39)	F111Y	probably damaging	Het
Slc44a3	G	A	3: 121,254,914 (GRCm39)	A568V	probably benign	Het
Smarcd3	T	G	5: 24,800,192 (GRCm39)	R213S	probably damaging	Het
Snx13	T	C	12: 35,136,895 (GRCm39)	Y119H	probably damaging	Het
Socs2	C	A	10: 95,248,943 (GRCm39)	E57*	probably null	Het
Spred1	C	T	2: 117,005,828 (GRCm39)	P197S	probably benign	Het
Tapbp	A	G	17: 34,139,405 (GRCm39)	T134A	probably benign	Het
Tarbp1	T	C	8: 127,171,007 (GRCm39)	I998V	possibly damaging	Het
Tbcel	G	T	9: 42,372,589 (GRCm39)		probably benign	Het
Tec	A	G	5: 72,939,448 (GRCm39)	F189S	probably damaging	Het
Tmprss11g	A	T	5: 86,647,422 (GRCm39)	Y39N	probably damaging	Het
Tmtc1	A	G	6: 148,256,902 (GRCm39)		probably benign	Het
Trpa1	A	G	1: 14,943,899 (GRCm39)	I1070T	probably damaging	Het
Trpm2	T	A	10: 77,771,709 (GRCm39)		probably null	Het
Ttc21b	G	T	2: 66,056,379 (GRCm39)	T669K	probably benign	Het
Ttll4	G	A	1: 74,718,560 (GRCm39)	R137H	probably benign	Het
Ubqln3	G	T	7: 103,792,067 (GRCm39)	L8I	possibly damaging	Het
Ung	C	A	5: 114,269,415 (GRCm39)	N42K	probably benign	Het
Upp1	T	C	11: 9,084,865 (GRCm39)	S195P	probably damaging	Het
Urb1	T	C	16: 90,557,340 (GRCm39)	E1762G	possibly damaging	Het
Utp11	T	C	4: 124,579,904 (GRCm39)	K35E	probably damaging	Het
Vav3	A	T	3: 109,418,294 (GRCm39)	K305I	probably damaging	Het
Vmn1r197	A	G	13: 22,512,498 (GRCm39)	I140V	possibly damaging	Het
Vmn2r-ps158	A	G	7: 42,673,503 (GRCm39)	E187G	probably benign	Het
Zfc3h1	A	G	10: 115,226,827 (GRCm39)	T295A	probably benign	Het
Zfp268	A	T	4: 145,350,877 (GRCm39)		probably benign	Het
Zfp46	T	C	4: 136,017,823 (GRCm39)	L219P	probably damaging	Het
Zfp493	G	A	13: 67,931,999 (GRCm39)	V33M	probably damaging	Het
Zfp92	T	C	X: 72,463,466 (GRCm39)		probably benign	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
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
R6458:Srek1	UTSW	13	103,880,076 (GRCm39)	missense	probably benign	0.01
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'- GTCCACAATGTCACCTCATAGCTGG -3'
(R):5'- GGGCAGAATTTGGACTGCTTTTCAC -3'

Sequencing Primer
(F):5'- TGTCACCTCATAGCTGGAAAAG -3'
(R):5'- tcagaaatccgcctgcc -3'

Posted On

2014-04-24