Mutagenetix > Incidental Mutation

Incidental Mutation 'R0106:Srek1'

17422

Institutional Source

Beutler Lab

Gene Symbol

Srek1

Ensembl Gene

ENSMUSG00000032621

Gene Name

splicing regulatory glutamine/lysine-rich protein 1

Synonyms

SRrp508, Sfrs12, SRrp86

MMRRC Submission

038392-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R0106 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

103739348-103774608 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103743623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 476 (H476Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147737 (fasta)

Gene Model

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

AlphaFold

Q8BZX4

Predicted Effect

unknown
Transcript: ENSMUST00000074616
AA Change: H592Y

SMART Domains

Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: H592Y

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: H476Y

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211491

Meta Mutation Damage Score

0.1745

Coding Region Coverage

1x: 87.6%
3x: 83.1%
10x: 68.0%
20x: 43.0%

Validation Efficiency

97% (89/92)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	A	T	11: 43,587,373		probably benign	Het
A730018C14Rik	A	T	12: 112,415,194		noncoding transcript	Het
Abca5	A	T	11: 110,319,825	L176Q	probably damaging	Het
Aspm	C	A	1: 139,476,876	Q1315K	probably benign	Het
BC055324	T	C	1: 163,982,811		probably benign	Het
Bpifb4	A	G	2: 153,940,968	D31G	probably benign	Het
Brf1	A	G	12: 112,973,463		probably benign	Het
Card19	A	C	13: 49,208,145	D3E	probably benign	Het
Chd6	A	G	2: 160,967,902	F1480L	probably damaging	Het
Cldn25-ps	A	G	9: 49,047,633		noncoding transcript	Het
Col11a2	A	G	17: 34,057,275	N799D	probably damaging	Het
Cpb1	T	C	3: 20,266,533		probably null	Het
Cyp2g1	T	A	7: 26,814,182	I182N	probably damaging	Het
Dntt	A	T	19: 41,055,746		probably benign	Het
Dscc1	C	A	15: 55,083,570	C253F	probably benign	Het
Dysf	C	A	6: 84,113,336	F956L	probably benign	Het
Ephb6	T	C	6: 41,619,594		probably benign	Het
Fkbp6	C	T	5: 135,340,004	R234Q	probably benign	Het
Gda	T	C	19: 21,397,556	D332G	probably benign	Het
Ggt7	C	T	2: 155,494,893	A560T	possibly damaging	Het
Glis3	A	T	19: 28,531,868	S239T	possibly damaging	Het
Glyctk	G	A	9: 106,155,969	P124L	probably benign	Het
Gm10845	T	A	14: 79,863,204		noncoding transcript	Het
H13	A	G	2: 152,686,256	K175R	probably benign	Het
Igsf6	T	A	7: 121,074,454	I18F	probably benign	Het
Immt	A	G	6: 71,851,844	S128G	probably benign	Het
Isy1	G	A	6: 87,819,185	R257W	probably damaging	Het
Kif13a	G	T	13: 46,825,347		probably benign	Het
L2hgdh	A	T	12: 69,705,789	Y239*	probably null	Het
Lamp1	A	G	8: 13,174,550	T405A	probably damaging	Het
Lpin1	A	T	12: 16,540,979	N817K	possibly damaging	Het
Macf1	G	A	4: 123,408,564	T715I	probably benign	Het
Mapk12	T	C	15: 89,132,984		probably benign	Het
Mdga2	A	T	12: 66,716,706	N205K	probably damaging	Het
Nat10	A	G	2: 103,757,205	V55A	probably damaging	Het
Nlrp10	T	C	7: 108,925,322	E317G	possibly damaging	Het
Nolc1	T	A	19: 46,080,089		probably benign	Het
Nomo1	T	C	7: 46,037,632	I72T	probably damaging	Het
Olfr1450	A	G	19: 12,954,356	I256V	probably benign	Het
Pappa2	C	T	1: 158,714,977	C1780Y	probably damaging	Het
Pgm2l1	A	G	7: 100,250,373	M65V	probably benign	Het
Pnisr	T	C	4: 21,874,617		probably benign	Het
Prss34	A	T	17: 25,298,726	D25V	probably damaging	Het
Ptpn1	T	C	2: 167,976,418		probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pygb	A	G	2: 150,806,203	D119G	probably benign	Het
Racgap1	T	C	15: 99,642,958	T4A	possibly damaging	Het
Rap1gap2	A	G	11: 74,435,744	C166R	probably benign	Het
Rbm28	C	A	6: 29,127,803	V705L	probably benign	Het
Rgs1	C	T	1: 144,248,549	V50M	probably benign	Het
Rgs12	C	T	5: 34,966,664	T597I	probably benign	Het
Ros1	T	C	10: 52,142,267	N765S	possibly damaging	Het
Ruvbl1	A	G	6: 88,473,200	R58G	probably damaging	Het
Slc6a7	A	G	18: 61,002,223	V411A	probably benign	Het
Slco1a6	A	T	6: 142,157,390		probably benign	Het
Smc1b	A	T	15: 85,070,819	D1077E	probably damaging	Het
Strn3	A	G	12: 51,621,788	V673A	probably benign	Het
Tepsin	T	C	11: 120,091,811		probably null	Het
Tmem131l	C	T	3: 83,934,815		probably benign	Het
Tmem132c	T	C	5: 127,554,669	V664A	possibly damaging	Het
Tmprss15	T	C	16: 79,003,389	D602G	probably damaging	Het
Trbv15	T	C	6: 41,141,265		probably benign	Het
Trpm4	A	G	7: 45,319,240		probably null	Het
Wdr70	A	T	15: 8,019,587		probably null	Het

Other mutations in Srek1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01756:Srek1	APN	13	103760582	missense	probably damaging	1.00
IGL01834:Srek1	APN	13	103748785	unclassified	probably benign
IGL03029:Srek1	APN	13	103763960	utr 5 prime	probably benign
IGL03198:Srek1	APN	13	103744935	splice site	probably null
IGL03284:Srek1	APN	13	103760537	missense	probably damaging	0.96
inscruitable	UTSW	13	103774386	missense	probably damaging	1.00
PIT4453001:Srek1	UTSW	13	103744783	critical splice donor site	probably null
R0080:Srek1	UTSW	13	103743686	missense	unknown
R0082:Srek1	UTSW	13	103743686	missense	unknown
R0106:Srek1	UTSW	13	103743623	missense	unknown
R0506:Srek1	UTSW	13	103760590	missense	probably damaging	0.99
R0569:Srek1	UTSW	13	103748862	unclassified	probably benign
R0969:Srek1	UTSW	13	103752503	unclassified	probably benign
R1617:Srek1	UTSW	13	103743604	missense	unknown
R2098:Srek1	UTSW	13	103744855	missense	unknown
R2423:Srek1	UTSW	13	103753028	nonsense	probably null
R3950:Srek1	UTSW	13	103744895	missense	unknown
R4347:Srek1	UTSW	13	103748759	missense	probably null
R4676:Srek1	UTSW	13	103758187	splice site	probably benign
R4915:Srek1	UTSW	13	103752563	unclassified	probably benign
R4915:Srek1	UTSW	13	103752686	utr 3 prime	probably benign
R5119:Srek1	UTSW	13	103752556	unclassified	probably benign
R5677:Srek1	UTSW	13	103759244	missense	probably damaging	0.98
R6135:Srek1	UTSW	13	103774386	missense	probably damaging	1.00
R6458:Srek1	UTSW	13	103743568	missense	probably benign	0.01
R7406:Srek1	UTSW	13	103769382	missense	probably damaging	1.00
R8537:Srek1	UTSW	13	103752449	unclassified	probably benign
R9269:Srek1	UTSW	13	103753146	critical splice acceptor site	probably null

Posted On

2013-01-31