Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01756:Srek1'

153448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srek1

Ensembl Gene

ENSMUSG00000032621

Gene Name

splicing regulatory glutamine/lysine-rich protein 1

Synonyms

SRrp86, Sfrs12, AL118220, SRrp508

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL01756

Quality Score

Status

Chromosome

Chromosomal Location

103875856-103911116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103897090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 84 (D84N)

Ref Sequence

ENSEMBL: ENSMUSP00000147737 (fasta)

Gene Model

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

AlphaFold

Q8BZX4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074616
AA Change: D200N

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074196
Gene: ENSMUSG00000032621
AA Change: D200N

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: ENSMUST00000209961

Predicted Effect

probably damaging
Transcript: ENSMUST00000210489
AA Change: D84N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210643

Predicted Effect

probably damaging
Transcript: ENSMUST00000210836
AA Change: D84N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211322
AA Change: D84N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211491

Coding Region Coverage

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atrnl1	A	G	19: 57,641,380 (GRCm39)	N343D	probably benign	Het
Birc6	T	C	17: 74,947,203 (GRCm39)	V2974A	probably benign	Het
Cngb3	A	C	4: 19,367,850 (GRCm39)	D253A	probably damaging	Het
Cog4	A	T	8: 111,580,391 (GRCm39)	K154*	probably null	Het
Col6a3	T	A	1: 90,706,884 (GRCm39)	E2076D	unknown	Het
Cox7a2	T	G	9: 79,665,837 (GRCm39)	T15P	probably benign	Het
Cyp4f39	T	A	17: 32,702,415 (GRCm39)	L304*	probably null	Het
Gucy2e	A	T	11: 69,123,678 (GRCm39)	L407Q	probably damaging	Het
Hectd4	T	C	5: 121,482,887 (GRCm39)	I3146T	probably benign	Het
Hipk4	T	A	7: 27,227,968 (GRCm39)	L238*	probably null	Het
Igf2r	C	T	17: 12,902,709 (GRCm39)	R2447Q	probably benign	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klkb1	T	A	8: 45,725,361 (GRCm39)	K526M	probably damaging	Het
Ninl	T	C	2: 150,821,436 (GRCm39)	E66G	probably damaging	Het
Pde8b	A	G	13: 95,182,895 (GRCm39)	S288P	probably damaging	Het
Rigi	A	T	4: 40,209,934 (GRCm39)	N666K	probably damaging	Het
Sar1a	T	A	10: 61,522,235 (GRCm39)	M109K	probably benign	Het
Snx18	T	A	13: 113,754,052 (GRCm39)	T294S	probably benign	Het
Trem1	G	A	17: 48,544,141 (GRCm39)	W55*	probably null	Het
Tsnaxip1	A	T	8: 106,569,420 (GRCm39)		probably benign	Het
Vmn2r43	A	G	7: 8,258,583 (GRCm39)	L210S	probably benign	Het

Other mutations in Srek1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-02-04