Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:Srek1'

574762

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

045487-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.950) question?

Stock #

R7406 (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 103905890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 77 (V77E)

Ref Sequence

ENSEMBL: ENSMUSP00000074196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074616] [ENSMUST00000210489] [ENSMUST00000210836] [ENSMUST00000211322]

AlphaFold

Q8BZX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000074616
AA Change: V77E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: V77E

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

probably benign
Transcript: ENSMUST00000210489

Predicted Effect

probably benign
Transcript: ENSMUST00000210836

Predicted Effect

probably benign
Transcript: ENSMUST00000211322

Meta Mutation Damage Score

0.8332

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,974,231 (GRCm39)	S183P	possibly damaging	Het
2900092C05Rik	A	G	7: 12,249,391 (GRCm39)	T75A	possibly damaging	Het
Abhd8	A	G	8: 71,914,406 (GRCm39)	V74A	probably benign	Het
Agrn	A	C	4: 156,256,758 (GRCm39)	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,462,380 (GRCm39)	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,869,576 (GRCm39)	Y497C	probably damaging	Het
Bpifa2	T	G	2: 153,851,739 (GRCm39)	S58R	probably benign	Het
Cacna1h	C	T	17: 25,604,600 (GRCm39)	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,340,523 (GRCm39)	L112*	probably null	Het
Cd300e	A	T	11: 114,946,128 (GRCm39)	I111N	probably damaging	Het
Cdkl3	A	T	11: 51,924,369 (GRCm39)	E552D	probably benign	Het
Chst5	A	G	8: 112,617,245 (GRCm39)	V125A	probably benign	Het
Clock	A	T	5: 76,414,692 (GRCm39)	M1K	probably null	Het
Cops7b	T	A	1: 86,528,852 (GRCm39)	L193Q	probably benign	Het
Csmd1	T	C	8: 16,338,707 (GRCm39)	T467A	probably damaging	Het
Ctr9	A	G	7: 110,652,615 (GRCm39)	E971G	unknown	Het
Dcp2	A	G	18: 44,543,254 (GRCm39)	T271A	probably benign	Het
Dsp	A	G	13: 38,381,172 (GRCm39)	N2639S	possibly damaging	Het
Fhip1a	T	C	3: 85,637,784 (GRCm39)	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912 (GRCm39)	C212W	probably benign	Het
Gpr179	G	T	11: 97,242,420 (GRCm39)	D141E	probably damaging	Het
H2bc4	A	G	13: 23,868,342 (GRCm39)	Y43C	probably damaging	Het
Hdhd2	C	T	18: 77,031,811 (GRCm39)	T89M	probably benign	Het
Krt6b	T	G	15: 101,587,513 (GRCm39)	T194P	probably benign	Het
Lrp1b	T	C	2: 41,266,030 (GRCm39)		probably null	Het
Maneal	A	T	4: 124,754,161 (GRCm39)	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 122,317,355 (GRCm39)	C11S	unknown	Het
Mapt	G	A	11: 104,213,350 (GRCm39)	G296E	possibly damaging	Het
Mgam	A	G	6: 40,640,459 (GRCm39)	N509S	probably benign	Het
Mrgprx1	T	A	7: 47,671,733 (GRCm39)	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,659,583 (GRCm39)	D416G	probably benign	Het
Ncan	T	G	8: 70,562,749 (GRCm39)	D503A	probably benign	Het
Nedd1	A	T	10: 92,547,185 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,298,351 (GRCm39)	T641A	probably benign	Het
Or2b6	T	C	13: 21,823,316 (GRCm39)	I126V	probably benign	Het
Or4k2	T	A	14: 50,424,015 (GRCm39)	I221F	probably damaging	Het
Or6c219	A	T	10: 129,781,435 (GRCm39)	D50E	probably benign	Het
Or8b1b	T	A	9: 38,375,439 (GRCm39)	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,859,238 (GRCm39)	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 115,953,242 (GRCm39)	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,483,387 (GRCm39)	S229T	possibly damaging	Het
Prss43	T	G	9: 110,657,764 (GRCm39)	I221S	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,518,543 (GRCm39)	E348*	probably null	Het
Sfxn5	A	G	6: 85,244,889 (GRCm39)	Y169H	probably damaging	Het
Skint9	T	C	4: 112,246,428 (GRCm39)	N228S	probably benign	Het
Slx4ip	A	T	2: 136,842,162 (GRCm39)	D29V	probably damaging	Het
Snx29	G	T	16: 11,573,180 (GRCm39)	G474V	probably damaging	Het
Spata6	T	A	4: 111,638,017 (GRCm39)	D282E	possibly damaging	Het
Timd6	A	G	11: 46,468,285 (GRCm39)	T120A	possibly damaging	Het
Tmt1a3	T	C	15: 100,233,289 (GRCm39)	V160A	probably benign	Het
Tnfrsf22	T	C	7: 143,194,564 (GRCm39)	D121G	probably damaging	Het
Ucma	G	A	2: 4,990,170 (GRCm39)	W122*	probably null	Het
Vmn2r124	T	C	17: 18,282,306 (GRCm39)	M113T	unknown	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Vmn2r8	A	G	5: 108,948,442 (GRCm39)	L482S	probably benign	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr26	A	T	1: 181,015,240 (GRCm39)	S390R	probably damaging	Het
Zbtb40	A	T	4: 136,728,205 (GRCm39)	S471T	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
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
R6458:Srek1	UTSW	13	103,880,076 (GRCm39)	missense	probably benign	0.01
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'- CTCACACATAGAGTACTGGCC -3'
(R):5'- TGATTTGTTGGCACCCCTAG -3'

Sequencing Primer
(F):5'- TGGCCAATTTCCAGGAAAGC -3'
(R):5'- ATTTGTTGGCACCCCTAGAGTGAC -3'

Posted On

2019-10-07