Incidental Mutation 'IGL00504:Sh3bgrl2'
ID6147
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sh3bgrl2
Ensembl Gene ENSMUSG00000032261
Gene NameSH3 domain binding glutamic acid-rich protein like 2
SynonymsA930014C21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL00504
Quality Score
Status
Chromosome9
Chromosomal Location83548327-83638801 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 83577554 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 55 (P55L)
Ref Sequence ENSEMBL: ENSMUSP00000140348 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113215] [ENSMUST00000188030] [ENSMUST00000188241]
Predicted Effect probably benign
Transcript: ENSMUST00000113215
AA Change: P55L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108841
Gene: ENSMUSG00000032261
AA Change: P55L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:SH3BGR 1 58 1.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188030
AA Change: P55L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000140348
Gene: ENSMUSG00000032261
AA Change: P55L

DomainStartEndE-ValueType
Pfam:SH3BGR 1 85 8.2e-36 PFAM
Pfam:Glutaredoxin 21 76 5.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188241
AA Change: P55L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140951
Gene: ENSMUSG00000032261
AA Change: P55L

DomainStartEndE-ValueType
Pfam:SH3BGR 1 98 2.1e-47 PFAM
Pfam:Glutaredoxin 21 76 1.1e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213703
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atpaf2 T C 11: 60,405,803 D168G probably damaging Het
Bcorl1 T G X: 48,406,042 V1730G probably damaging Het
Cela3b A T 4: 137,423,281 V202E probably damaging Het
Col3a1 A G 1: 45,347,135 D145G probably damaging Het
Cpsf6 A T 10: 117,366,129 probably benign Het
Dock5 A G 14: 67,786,889 probably benign Het
Folh1 T G 7: 86,734,143 R465S probably damaging Het
Garem1 T A 18: 21,148,657 Q214L probably damaging Het
Ldb2 T A 5: 44,541,684 probably null Het
Lmln A G 16: 33,083,065 N283S probably benign Het
Micalcl A G 7: 112,382,145 N508S possibly damaging Het
Obsl1 C A 1: 75,490,874 G1419C probably benign Het
Pafah1b3 T A 7: 25,296,189 T115S probably benign Het
Pcdhb5 C A 18: 37,322,109 A514E probably damaging Het
Prl8a8 G T 13: 27,509,610 T144K probably damaging Het
Rasgrp1 T A 2: 117,305,791 K105* probably null Het
Rin1 T C 19: 5,052,410 S316P probably benign Het
Serpinb3b A T 1: 107,157,681 F110Y probably benign Het
Slc10a2 T A 8: 5,091,668 S239C probably damaging Het
Slc10a2 C A 8: 5,091,667 S239I probably benign Het
Slc6a15 T C 10: 103,389,141 V30A probably benign Het
Sncaip T G 18: 52,884,963 probably null Het
Tcerg1l T C 7: 138,209,804 R554G probably damaging Het
Tfap2b A G 1: 19,214,026 S35G possibly damaging Het
Tor1a A G 2: 30,967,190 I116T probably damaging Het
Tprgl A G 4: 154,158,433 S188P probably damaging Het
Vcan A T 13: 89,691,275 V2050E possibly damaging Het
Zcchc11 G A 4: 108,550,728 R1398H probably damaging Het
Zfp280d T C 9: 72,322,571 C362R probably damaging Het
Other mutations in Sh3bgrl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1004:Sh3bgrl2 UTSW 9 83577631 splice site probably benign
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
Posted On2012-04-20