Mutagenetix > Incidental Mutation

Incidental Mutation 'R1006:Sh3bgrl2'

95764

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

039116-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1006 (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: 99.3%
3x: 97.8%
10x: 93.4%
20x: 82.9%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	A	T	8: 71,911,085 (GRCm39)	I282N	probably benign	Het
Akr1c18	T	C	13: 4,186,654 (GRCm39)	I265V	probably benign	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Arfgef1	T	C	1: 10,210,706 (GRCm39)	I1788V	probably benign	Het
Cacng7	T	A	7: 3,415,445 (GRCm39)	I270N	possibly damaging	Het
Ccdc81	C	T	7: 89,515,769 (GRCm39)	E637K	probably benign	Het
Cnbd2	A	G	2: 156,170,328 (GRCm39)	I138V	possibly damaging	Het
Cntnap5b	A	G	1: 100,311,342 (GRCm39)	K983E	probably benign	Het
Col14a1	T	C	15: 55,383,331 (GRCm39)	S1770P	probably benign	Het
Cpsf6	A	T	10: 117,201,973 (GRCm39)		probably benign	Het
Ctsc	G	A	7: 87,959,037 (GRCm39)	R439H	probably damaging	Het
Dcun1d1	A	G	3: 35,951,930 (GRCm39)		probably benign	Het
Flg2	A	G	3: 93,108,514 (GRCm39)	I181V	probably benign	Het
Gbp2	A	T	3: 142,343,183 (GRCm39)	S567C	probably damaging	Het
Gm5114	A	G	7: 39,058,510 (GRCm39)	S370P	probably damaging	Het
Kcnh7	A	G	2: 62,546,527 (GRCm39)	V1018A	probably benign	Het
Kmt2a	G	A	9: 44,758,993 (GRCm39)	A952V	probably damaging	Het
Krt1	C	T	15: 101,756,326 (GRCm39)	E340K	possibly damaging	Het
Lim2	T	A	7: 43,084,826 (GRCm39)	I141N	probably damaging	Het
Nlrp4a	T	C	7: 26,152,892 (GRCm39)	V654A	probably benign	Het
Or5b24	T	A	19: 12,912,638 (GRCm39)	C179S	probably damaging	Het
Prr14l	T	C	5: 32,986,826 (GRCm39)	S890G	probably benign	Het
Psmd14	T	A	2: 61,627,726 (GRCm39)		probably null	Het
Ptpn13	A	G	5: 103,734,655 (GRCm39)	D2129G	probably benign	Het
Pum1	C	T	4: 130,499,199 (GRCm39)	T760M	probably damaging	Het
Rif1	A	G	2: 51,975,041 (GRCm39)	I317V	probably damaging	Het
Slfn8	A	T	11: 82,894,337 (GRCm39)	H767Q	possibly damaging	Het
Sned1	G	A	1: 93,184,114 (GRCm39)	G114D	probably damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tenm3	A	T	8: 48,681,577 (GRCm39)	D2684E	probably damaging	Het
Tet2	T	C	3: 133,182,362 (GRCm39)	T1201A	possibly damaging	Het
Vax2	T	C	6: 83,714,759 (GRCm39)	S225P	probably damaging	Het
Vcan	A	G	13: 89,833,196 (GRCm39)		probably null	Het
Washc5	T	A	15: 59,241,035 (GRCm39)	Q100L	probably benign	Het
Washc5	G	T	15: 59,241,036 (GRCm39)	Q100K	probably benign	Het
Zc3h13	A	G	14: 75,567,989 (GRCm39)	D1094G	probably damaging	Het
Zmiz1	A	G	14: 25,663,404 (GRCm39)	Y1051C	unknown	Het
Zswim2	G	A	2: 83,745,737 (GRCm39)	S567L	probably 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
R1331:Sh3bgrl2	UTSW	9	83,459,684 (GRCm39)	splice site	probably benign
R1333: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'- TCTGTCCTGGCCTAGACAATGAGAG -3'
(R):5'- CCGTCTGTGCTGCTGAATTTGC -3'

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

Posted On

2014-01-05