Mutagenetix > Incidental Mutations

Incidental Mutation 'R3950:Srek1'

307894

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

040930-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103739348-103774608 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103744895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 408 (R408W)

Ref Sequence

ENSEMBL: ENSMUSP00000147737 (fasta)

Gene Model

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

AlphaFold

Q8BZX4

Predicted Effect

unknown
Transcript: ENSMUST00000074616
AA Change: R524W

SMART Domains

Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: R524W

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: R408W

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211491

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,664,403		probably null	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Appbp2	A	G	11: 85,194,706	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,185,144	Y291C	probably damaging	Het
Ate1	T	C	7: 130,467,292	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,768,022	A72S	probably benign	Het
C3	T	C	17: 57,225,286	R178G	probably benign	Het
Cdh23	T	C	10: 60,657,326	Y3C	probably benign	Het
Col11a1	T	C	3: 114,121,445		probably null	Het
Col22a1	A	G	15: 71,977,358	F294L	possibly damaging	Het
Dera	A	G	6: 137,837,120	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061	Y276*	probably null	Het
Eea1	A	T	10: 96,042,134	N1389I	probably damaging	Het
Epha4	A	T	1: 77,399,716	Y509N	probably damaging	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,420	K219*	probably null	Het
Fsd1	G	A	17: 55,995,517		probably null	Het
Haspin	A	G	11: 73,136,395	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,856,138	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,385,227	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,343,232	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,405,615	P609T	probably damaging	Het
Klhl18	T	A	9: 110,428,902	Y490F	probably damaging	Het
Ky	C	T	9: 102,542,428	Q545*	probably null	Het
L1td1	T	C	4: 98,737,353	L595P	probably benign	Het
Map3k20	T	G	2: 72,438,300	I550M	probably damaging	Het
Mug1	T	A	6: 121,878,530	V941E	probably damaging	Het
Ndst1	T	C	18: 60,697,139	N633S	probably benign	Het
Ninl	A	T	2: 150,952,488	I740K	possibly damaging	Het
Npepl1	A	G	2: 174,121,113	N431D	probably damaging	Het
Olfr1128	T	C	2: 87,545,065	T160A	probably damaging	Het
Pacs2	T	C	12: 113,061,113	S408P	probably damaging	Het
Pard6b	C	T	2: 168,099,194	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,716,515	E525G	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pcx	C	T	19: 4,617,967	H506Y	probably benign	Het
Pdhx	A	G	2: 103,035,241	S199P	probably damaging	Het
Pdia2	C	A	17: 26,197,616		probably null	Het
Pif1	C	A	9: 65,591,834	N445K	probably damaging	Het
Prickle4	T	C	17: 47,688,582	K349E	probably benign	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,589,194	M173K	probably damaging	Het
Rb1	A	G	14: 73,262,662	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,700,051	K154E	probably damaging	Het
Ros1	C	T	10: 52,066,388	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,909,897		probably null	Het
Sema5a	T	C	15: 32,689,338	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,664,269	V318I	probably benign	Het
Synrg	C	T	11: 83,989,815	T444I	probably damaging	Het
Ticrr	T	C	7: 79,682,069	L776S	probably damaging	Het
Tmem127	T	C	2: 127,248,657	L31P	probably damaging	Het
Tmprss15	T	A	16: 79,073,186	T190S	probably benign	Het
Trip10	T	A	17: 57,253,411		probably null	Het
Ttc6	A	G	12: 57,649,506	Y31C	probably damaging	Het
Unc80	A	T	1: 66,622,570	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,687,546	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,296,019	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,846,346	S337P	probably damaging	Het
Zswim9	T	A	7: 13,261,577	T218S	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTTCTCATCTCTTCAAAGGC -3'
(R):5'- GGCTGGCTACTGCTGAAATC -3'

Sequencing Primer
(F):5'- CATCTCTTCAAAGGCAGTAAGAGTG -3'
(R):5'- TCACTTTAACCCTGAGTGAAGC -3'

Posted On

2015-04-17