Incidental Mutation 'IGL00504:Sh3bgrl2'
| ID |
6147 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3bgrl2
|
| Ensembl Gene |
ENSMUSG00000032261 |
| Gene Name |
SH3 domain binding glutamic acid-rich protein like 2 |
| Synonyms |
A930014C21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL00504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
83430391-83482345 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83459607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BG73 |
| 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
| 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
AA Change: P55L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140348
Gene: ENSMUSG00000032261
AA Change: P55L
| 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
AA Change: P55L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000140951
Gene: ENSMUSG00000032261
AA Change: P55L
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atpaf2 |
T |
C |
11: 60,296,629 (GRCm39) |
D168G |
probably damaging |
Het |
| Bcorl1 |
T |
G |
X: 47,494,919 (GRCm39) |
V1730G |
probably damaging |
Het |
| Cela3b |
A |
T |
4: 137,150,592 (GRCm39) |
V202E |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Cpsf6 |
A |
T |
10: 117,202,034 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,024,338 (GRCm39) |
|
probably benign |
Het |
| Folh1 |
T |
G |
7: 86,383,351 (GRCm39) |
R465S |
probably damaging |
Het |
| Garem1 |
T |
A |
18: 21,281,714 (GRCm39) |
Q214L |
probably damaging |
Het |
| Ldb2 |
T |
A |
5: 44,699,026 (GRCm39) |
|
probably null |
Het |
| Lmln |
A |
G |
16: 32,903,435 (GRCm39) |
N283S |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,981,352 (GRCm39) |
N508S |
possibly damaging |
Het |
| Obsl1 |
C |
A |
1: 75,467,518 (GRCm39) |
G1419C |
probably benign |
Het |
| Pafah1b3 |
T |
A |
7: 24,995,614 (GRCm39) |
T115S |
probably benign |
Het |
| Pcdhb5 |
C |
A |
18: 37,455,162 (GRCm39) |
A514E |
probably damaging |
Het |
| Prl8a8 |
G |
T |
13: 27,693,593 (GRCm39) |
T144K |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,136,272 (GRCm39) |
K105* |
probably null |
Het |
| Rin1 |
T |
C |
19: 5,102,438 (GRCm39) |
S316P |
probably benign |
Het |
| Serpinb3b |
A |
T |
1: 107,085,411 (GRCm39) |
F110Y |
probably benign |
Het |
| Slc10a2 |
T |
A |
8: 5,141,668 (GRCm39) |
S239C |
probably damaging |
Het |
| Slc10a2 |
C |
A |
8: 5,141,667 (GRCm39) |
S239I |
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,225,002 (GRCm39) |
V30A |
probably benign |
Het |
| Sncaip |
T |
G |
18: 53,018,035 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
T |
C |
7: 137,811,533 (GRCm39) |
R554G |
probably damaging |
Het |
| Tfap2b |
A |
G |
1: 19,284,250 (GRCm39) |
S35G |
possibly damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,202 (GRCm39) |
I116T |
probably damaging |
Het |
| Tprg1l |
A |
G |
4: 154,242,890 (GRCm39) |
S188P |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,407,925 (GRCm39) |
R1398H |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,839,394 (GRCm39) |
V2050E |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,229,853 (GRCm39) |
C362R |
probably damaging |
Het |
|
| Other mutations in Sh3bgrl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation