Mutagenetix > Incidental Mutation

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

SRrp86, Sfrs12, AL118220, SRrp508

MMRRC Submission

040930-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R3950 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103875856-103911116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103881403 bp (GRCm39)

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: 68,494,747 (GRCm39)		probably null	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Appbp2	A	G	11: 85,085,532 (GRCm39)	I458T	probably damaging	Het
Arhgef25	T	C	10: 127,021,013 (GRCm39)	Y291C	probably damaging	Het
Ate1	T	C	7: 130,069,022 (GRCm39)	Y415C	probably damaging	Het
B4galt4	G	T	16: 38,588,384 (GRCm39)	A72S	probably benign	Het
C3	T	C	17: 57,532,286 (GRCm39)	R178G	probably benign	Het
Cdh23	T	C	10: 60,493,105 (GRCm39)	Y3C	probably benign	Het
Col11a1	T	C	3: 113,915,094 (GRCm39)		probably null	Het
Col22a1	A	G	15: 71,849,207 (GRCm39)	F294L	possibly damaging	Het
Dera	A	G	6: 137,814,118 (GRCm39)	Y100C	probably damaging	Het
Dync2h1	A	T	9: 7,112,061 (GRCm39)	Y276*	probably null	Het
Eea1	A	T	10: 95,877,996 (GRCm39)	N1389I	probably damaging	Het
Epha4	A	T	1: 77,376,353 (GRCm39)	Y509N	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	A	6: 23,247,419 (GRCm39)	K219*	probably null	Het
Fsd1	G	A	17: 56,302,517 (GRCm39)		probably null	Het
Haspin	A	G	11: 73,027,221 (GRCm39)	Y623H	probably damaging	Het
Hsd3b1	C	T	3: 98,763,454 (GRCm39)	V56M	possibly damaging	Het
Hyou1	C	T	9: 44,296,524 (GRCm39)	T483I	probably damaging	Het
Kdm2a	A	G	19: 4,393,260 (GRCm39)	L365S	possibly damaging	Het
Kdm6b	G	T	11: 69,296,441 (GRCm39)	P609T	probably damaging	Het
Klhl18	T	A	9: 110,257,970 (GRCm39)	Y490F	probably damaging	Het
Ky	C	T	9: 102,419,627 (GRCm39)	Q545*	probably null	Het
L1td1	T	C	4: 98,625,590 (GRCm39)	L595P	probably benign	Het
Map3k20	T	G	2: 72,268,644 (GRCm39)	I550M	probably damaging	Het
Mug1	T	A	6: 121,855,489 (GRCm39)	V941E	probably damaging	Het
Ndst1	T	C	18: 60,830,211 (GRCm39)	N633S	probably benign	Het
Ninl	A	T	2: 150,794,408 (GRCm39)	I740K	possibly damaging	Het
Npepl1	A	G	2: 173,962,906 (GRCm39)	N431D	probably damaging	Het
Or5w10	T	C	2: 87,375,409 (GRCm39)	T160A	probably damaging	Het
Pacs2	T	C	12: 113,024,733 (GRCm39)	S408P	probably damaging	Het
Pard6b	C	T	2: 167,941,114 (GRCm39)	T367I	probably damaging	Het
Pcdhga7	A	G	18: 37,849,568 (GRCm39)	E525G	probably damaging	Het
Pctp	A	G	11: 89,878,144 (GRCm39)	I130T	probably benign	Het
Pcx	C	T	19: 4,667,995 (GRCm39)	H506Y	probably benign	Het
Pdhx	A	G	2: 102,865,586 (GRCm39)	S199P	probably damaging	Het
Pdia2	C	A	17: 26,416,590 (GRCm39)		probably null	Het
Pif1	C	A	9: 65,499,116 (GRCm39)	N445K	probably damaging	Het
Prickle4	T	C	17: 47,999,507 (GRCm39)	K349E	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpdc1	A	T	13: 48,742,670 (GRCm39)	M173K	probably damaging	Het
Rb1	A	G	14: 73,500,102 (GRCm39)	L515P	probably damaging	Het
Rcvrn	A	G	11: 67,590,877 (GRCm39)	K154E	probably damaging	Het
Ros1	C	T	10: 51,942,484 (GRCm39)	V2059I	probably damaging	Het
Rtn4ip1	T	A	10: 43,785,893 (GRCm39)		probably null	Het
Sema5a	T	C	15: 32,689,484 (GRCm39)	Y1050H	probably damaging	Het
Slc25a28	C	T	19: 43,652,708 (GRCm39)	V318I	probably benign	Het
Synrg	C	T	11: 83,880,641 (GRCm39)	T444I	probably damaging	Het
Ticrr	T	C	7: 79,331,817 (GRCm39)	L776S	probably damaging	Het
Tmem127	T	C	2: 127,090,577 (GRCm39)	L31P	probably damaging	Het
Tmprss15	T	A	16: 78,870,074 (GRCm39)	T190S	probably benign	Het
Trip10	T	A	17: 57,560,411 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,696,292 (GRCm39)	Y31C	probably damaging	Het
Unc80	A	T	1: 66,661,729 (GRCm39)	H1718L	possibly damaging	Het
Zbtb38	A	G	9: 96,569,599 (GRCm39)	F495S	probably damaging	Het
Zfp280d	G	T	9: 72,203,301 (GRCm39)	Q16H	possibly damaging	Het
Zfp521	A	G	18: 13,979,403 (GRCm39)	S337P	probably damaging	Het
Zswim9	T	A	7: 12,995,503 (GRCm39)	T218S	possibly 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
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'- TGGTTCTCATCTCTTCAAAGGC -3'
(R):5'- GGCTGGCTACTGCTGAAATC -3'

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

Posted On

2015-04-17