Mutagenetix > Incidental Mutation

Incidental Mutation 'B6584:Srek1ip1'

624

Institutional Source

Beutler Lab

Gene Symbol

Srek1ip1

Ensembl Gene

ENSMUSG00000021716

Gene Name

splicing regulatory glutamine/lysine-rich protein 1interacting protein 1

Synonyms

Sfrs12ip1, 3110031B13Rik, Srsf12ip1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

B6584 (G3) of strain supermodel

Quality Score

Status

Validated

Chromosome

Chromosomal Location

104953696-104975805 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 104953882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022228] [ENSMUST00000022230] [ENSMUST00000154165] [ENSMUST00000156105]

AlphaFold

Q4V9W2

Predicted Effect

probably benign
Transcript: ENSMUST00000022228

SMART Domains

Protein: ENSMUSP00000022228
Gene: ENSMUSG00000021715

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	166	3.4e-47	PFAM
low complexity region	176	197	N/A	INTRINSIC
low complexity region	209	217	N/A	INTRINSIC
coiled coil region	309	341	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022230

SMART Domains

Protein: ENSMUSP00000022230
Gene: ENSMUSG00000021716

Domain	Start	End	E-Value	Type
ZnF_C2HC	14	30	4.68e-2	SMART
low complexity region	45	58	N/A	INTRINSIC
low complexity region	67	93	N/A	INTRINSIC
low complexity region	105	141	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145661

Predicted Effect

probably benign
Transcript: ENSMUST00000154165

SMART Domains

Protein: ENSMUSP00000119076
Gene: ENSMUSG00000021715

Domain	Start	End	E-Value	Type
Pfam:Pro_isomerase	14	82	1.3e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156105

SMART Domains

Protein: ENSMUSP00000122592
Gene: ENSMUSG00000021716

Domain	Start	End	E-Value	Type
ZnF_C2HC	14	30	4.68e-2	SMART
low complexity region	45	58	N/A	INTRINSIC

Coding Region Coverage

1x: 85.5%
3x: 70.0%

Het Detection Efficiency

43.9%

Validation Efficiency

89% (133/150)

Allele List at MGI

All alleles(14) : Targeted, other(4) Gene trapped(10)

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102H20Rik	C	T	17: 3,609,853 (GRCm39)		probably benign	Homo
Acadl	T	A	1: 66,887,632 (GRCm39)		probably benign	Het
Astn2	C	T	4: 65,910,624 (GRCm39)	V403M	probably damaging	Het
Clcc1	C	T	3: 108,580,229 (GRCm39)	T302I	probably damaging	Homo
Hormad1	T	A	3: 95,478,007 (GRCm39)		probably benign	Homo
Resf1	C	T	6: 149,230,844 (GRCm39)	H1297Y	probably damaging	Het
Rnf213	C	T	11: 119,316,895 (GRCm39)	T1007I	probably damaging	Het
Rrh	T	C	3: 129,605,391 (GRCm39)	N239D	probably damaging	Homo
Samd4	A	C	14: 47,253,794 (GRCm39)	H86P	probably damaging	Homo
Slc27a2	T	C	2: 126,403,562 (GRCm39)	L195P	possibly damaging	Het
Tars2	T	C	3: 95,649,462 (GRCm39)		probably null	Homo
Zfp37	A	T	4: 62,109,615 (GRCm39)	V521E	probably damaging	Het

Other mutations in Srek1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02617:Srek1ip1	APN	13	104,973,984 (GRCm39)	missense	possibly damaging	0.53
R2890:Srek1ip1	UTSW	13	104,970,758 (GRCm39)	missense	probably benign	0.08
R6019:Srek1ip1	UTSW	13	104,970,830 (GRCm39)	critical splice donor site	probably null
R6438:Srek1ip1	UTSW	13	104,973,878 (GRCm39)	missense	probably benign	0.28
R7916:Srek1ip1	UTSW	13	104,973,981 (GRCm39)	missense	possibly damaging	0.53
R8332:Srek1ip1	UTSW	13	104,970,757 (GRCm39)	missense	possibly damaging	0.53
R8369:Srek1ip1	UTSW	13	104,970,798 (GRCm39)	missense	probably benign
R9099:Srek1ip1	UTSW	13	104,973,964 (GRCm39)	missense	possibly damaging	0.73

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to C transition at base pair 105607454 in the Genbank genomic region NC_000079 for the Srek1ip1 gene on chromosome 13 (GTGAAGGTCA ->GTGAAGGCCA). Multiple transcripts of the Srek1ip1 gene are displayed on Ensembl and Vega. The mutation is located within intron 1 from the ATG exon, four nucleotides from the previous exon. The Srek1ip1 gene contains 5 total exons using Genbank record NM_026075.2. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Srek1ip1 gene encodes a 153 amino acid possible splicing regulator involved in the control of cellular survival. The protein contains a CCHC-type zinc finger at residues 13-30 (Uniprot Q4V9W2).

Posted On

2011-04-13