Mutagenetix > Incidental Mutation

Incidental Mutation 'R1333:Sh3bgrl2'

156781

Institutional Source

Beutler Lab

Gene Symbol

Sh3bgrl2

Ensembl Gene

ENSMUSG00000032261

Gene Name

SH3 domain binding glutamic acid-rich protein like 2

Synonyms

A930014C21Rik

MMRRC Submission

039398-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83430391-83482345 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 83459684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113215] [ENSMUST00000188030] [ENSMUST00000188241]

AlphaFold

Q8BG73

Predicted Effect

probably benign
Transcript: ENSMUST00000113215

SMART Domains

Protein: ENSMUSP00000108841
Gene: ENSMUSG00000032261

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	1.3e-50	PFAM
Pfam:Glutaredoxin	21	76	1.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185664

SMART Domains

Protein: ENSMUSP00000140380
Gene: ENSMUSG00000032261

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	58	1.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188030

SMART Domains

Protein: ENSMUSP00000140348
Gene: ENSMUSG00000032261

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	85	8.2e-36	PFAM
Pfam:Glutaredoxin	21	76	5.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188241

SMART Domains

Protein: ENSMUSP00000140951
Gene: ENSMUSG00000032261

Domain	Start	End	E-Value	Type
Pfam:SH3BGR	1	98	2.1e-47	PFAM
Pfam:Glutaredoxin	21	76	1.1e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213703

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 90.3%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	G	8: 114,431,805 (GRCm39)		probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Amt	A	G	9: 108,178,296 (GRCm39)	D301G	probably benign	Het
Arhgef26	T	C	3: 62,247,744 (GRCm39)	V276A	probably benign	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Ccdc63	T	C	5: 122,246,224 (GRCm39)	T566A	probably benign	Het
Cdk5rap1	A	G	2: 154,202,574 (GRCm39)	S219P	probably damaging	Het
Col1a2	T	A	6: 4,515,684 (GRCm39)		probably null	Het
Ctns	G	A	11: 73,075,823 (GRCm39)	T342I	probably benign	Het
Dst	G	A	1: 34,267,428 (GRCm39)	E4957K	probably damaging	Het
Elp1	C	T	4: 56,770,969 (GRCm39)		probably benign	Het
Fam163b	A	G	2: 27,003,659 (GRCm39)		probably benign	Het
Frem2	T	C	3: 53,457,152 (GRCm39)	T2067A	probably benign	Het
Gm7353	C	T	7: 3,159,066 (GRCm39)		noncoding transcript	Het
Gm9791	T	C	3: 34,059,225 (GRCm39)		noncoding transcript	Het
Grik2	G	T	10: 49,404,087 (GRCm39)	T258N	probably damaging	Het
Herc3	T	C	6: 58,864,478 (GRCm39)	L704P	probably damaging	Het
Hjurp	A	C	1: 88,193,768 (GRCm39)	V380G	probably damaging	Het
Lrrc56	A	G	7: 140,778,177 (GRCm39)		probably benign	Het
Mast3	G	A	8: 71,233,938 (GRCm39)	P187S	probably damaging	Het
Mier2	A	G	10: 79,380,991 (GRCm39)	V231A	probably benign	Het
Muc5b	A	G	7: 141,422,144 (GRCm39)	T4427A	possibly damaging	Het
Nox4	A	G	7: 86,896,072 (GRCm39)	S7G	possibly damaging	Het
Obscn	G	C	11: 58,971,143 (GRCm39)	Q2457E	probably damaging	Het
Slc1a1	A	G	19: 28,812,611 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stat6	G	C	10: 127,487,094 (GRCm39)	R200S	possibly damaging	Het
Stxbp5l	C	A	16: 37,068,231 (GRCm39)		probably null	Het
Tanc1	A	G	2: 59,673,835 (GRCm39)	S1647G	probably benign	Het
Tmem132d	T	A	5: 127,861,923 (GRCm39)	M733L	probably benign	Het
Unc13d	A	G	11: 115,964,381 (GRCm39)		probably benign	Het
Usp24	T	C	4: 106,199,550 (GRCm39)	S165P	possibly damaging	Het
Vmn1r9	T	C	6: 57,048,615 (GRCm39)	I230T	probably damaging	Het
Zscan20	T	C	4: 128,481,889 (GRCm39)	D591G	possibly damaging	Het

Other mutations in Sh3bgrl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Sh3bgrl2	APN	9	83,459,607 (GRCm39)	missense	probably benign	0.01
IGL00950:Sh3bgrl2	APN	9	83,459,543 (GRCm39)	missense	probably damaging	1.00
R0119:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R0299:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R0499:Sh3bgrl2	UTSW	9	83,459,612 (GRCm39)	missense	probably damaging	0.99
R1004:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1006:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1331:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1556:Sh3bgrl2	UTSW	9	83,476,751 (GRCm39)	missense	probably damaging	1.00
R5029:Sh3bgrl2	UTSW	9	83,430,542 (GRCm39)	missense	possibly damaging	0.94
R5328:Sh3bgrl2	UTSW	9	83,459,509 (GRCm39)	missense	probably benign	0.36
R7327:Sh3bgrl2	UTSW	9	83,430,542 (GRCm39)	missense	possibly damaging	0.94
R7651:Sh3bgrl2	UTSW	9	83,430,525 (GRCm39)	missense	possibly damaging	0.52
R9715:Sh3bgrl2	UTSW	9	83,430,513 (GRCm39)	start codon destroyed	probably null	0.92

Predicted Primers

PCR Primer
(F):5'- TGGTTCTGTCCTGGCCTAGACAATG -3'
(R):5'- CCGTCTGTGCTGCTGAATTTGC -3'

Sequencing Primer
(F):5'- CAGGCTAATCTGCAAATGTGTG -3'
(R):5'- GAAGGCACTGCCTTTACTGT -3'

Posted On

2014-02-11