Mutagenetix > Incidental Mutation

Incidental Mutation 'R1004:Sh3bgrl2'

97972

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

039114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1004 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83548327-83638801 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 83577631 bp (GRCm38)

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,151,954	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,803,451	E453V	probably damaging	Het
Agxt	A	G	1: 93,135,699	M108V	possibly damaging	Het
Akap13	T	C	7: 75,687,286	I831T	probably damaging	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arid1a	A	G	4: 133,687,275	M1215T	unknown	Het
Cd163	G	T	6: 124,325,347	D957Y	probably damaging	Het
Ces2e	A	G	8: 104,929,738	D200G	probably damaging	Het
Cfap54	T	C	10: 93,066,696		probably benign	Het
Col11a1	A	G	3: 114,095,022		probably benign	Het
Dlx6	C	T	6: 6,863,665	Q96*	probably null	Het
Dpp4	T	A	2: 62,332,640	Q754L	probably benign	Het
Ece1	A	G	4: 137,926,239	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544	V779M	possibly damaging	Het
Gatm	C	T	2: 122,609,660		probably benign	Het
Gm20767	T	A	13: 120,155,022	D132E	probably benign	Het
Gpc2	A	G	5: 138,278,225	L213P	probably damaging	Het
Hook1	A	C	4: 96,022,287	N713H	probably benign	Het
Kdm5b	T	A	1: 134,588,904	I178K	possibly damaging	Het
Mettl9	G	A	7: 121,076,237	V287I	probably benign	Het
Mroh2a	C	A	1: 88,242,420	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,140,917	T3774I	probably benign	Het
Nupl1	C	A	14: 60,247,481		probably benign	Het
Nxf1	A	T	19: 8,764,317	T119S	probably benign	Het
Oaz3	T	A	3: 94,435,043	H102L	probably damaging	Het
Olfr971	T	C	9: 39,839,980	F182S	probably benign	Het
Pfpl	A	T	19: 12,430,425	Q680L	probably benign	Het
Poli	T	A	18: 70,525,438	Q75L	probably benign	Het
Ppp2r3a	C	T	9: 101,198,630		probably null	Het
Prr30	A	G	14: 101,199,093	L11P	probably damaging	Het
Ptchd4	A	T	17: 42,377,602	Y345F	probably benign	Het
Ric1	A	G	19: 29,602,357	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,334,242		probably benign	Het
Skp1a	G	C	11: 52,237,380		probably benign	Het
Slc12a9	T	C	5: 137,322,524	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,618,399	N35S	probably damaging	Het
Xrcc5	A	G	1: 72,383,778		probably benign	Het
Zfp235	T	A	7: 24,140,744	L266Q	probably damaging	Het
Zfp600	T	A	4: 146,196,533		probably benign	Het

Other mutations in Sh3bgrl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Sh3bgrl2	APN	9	83577554	missense	probably benign	0.01
IGL00950:Sh3bgrl2	APN	9	83577490	missense	probably damaging	1.00
R0119:Sh3bgrl2	UTSW	9	83577559	missense	probably damaging	0.99
R0299:Sh3bgrl2	UTSW	9	83577559	missense	probably damaging	0.99
R0499:Sh3bgrl2	UTSW	9	83577559	missense	probably damaging	0.99
R1006:Sh3bgrl2	UTSW	9	83577631	splice site	probably benign
R1331:Sh3bgrl2	UTSW	9	83577631	splice site	probably benign
R1333:Sh3bgrl2	UTSW	9	83577631	splice site	probably benign
R1556:Sh3bgrl2	UTSW	9	83594698	missense	probably damaging	1.00
R5029:Sh3bgrl2	UTSW	9	83548489	missense	possibly damaging	0.94
R5328:Sh3bgrl2	UTSW	9	83577456	missense	probably benign	0.36
R7327:Sh3bgrl2	UTSW	9	83548489	missense	possibly damaging	0.94
R7651:Sh3bgrl2	UTSW	9	83548472	missense	possibly damaging	0.52
R9715:Sh3bgrl2	UTSW	9	83548460	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