Incidental Mutation 'IGL01638:Sh3glb2'
| ID |
93149 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3glb2
|
| Ensembl Gene |
ENSMUSG00000026860 |
| Gene Name |
SH3-domain GRB2-like endophilin B2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.219)
|
| Stock # |
IGL01638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30234821-30249349 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30235862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 310
(V310A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028214
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028214]
[ENSMUST00000064447]
[ENSMUST00000100215]
[ENSMUST00000113620]
[ENSMUST00000113621]
[ENSMUST00000163668]
|
| AlphaFold |
Q8R3V5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028214
AA Change: V310A
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: V310A
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
280 |
8.25e-92 |
SMART |
|
low complexity region
|
288 |
334 |
N/A |
INTRINSIC |
|
SH3
|
338 |
395 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064447
|
| SMART Domains |
Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup188
|
31 |
941 |
9.3e-213 |
PFAM |
|
low complexity region
|
1020 |
1035 |
N/A |
INTRINSIC |
|
low complexity region
|
1307 |
1320 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1360 |
N/A |
INTRINSIC |
|
low complexity region
|
1696 |
1709 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100215
AA Change: V315A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: V315A
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
280 |
4.42e-92 |
SMART |
|
low complexity region
|
293 |
339 |
N/A |
INTRINSIC |
|
SH3
|
343 |
400 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113620
AA Change: V289A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: V289A
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
259 |
3.85e-92 |
SMART |
|
low complexity region
|
267 |
313 |
N/A |
INTRINSIC |
|
SH3
|
317 |
374 |
2.16e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113621
AA Change: V319A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: V319A
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
284 |
5.36e-91 |
SMART |
|
low complexity region
|
297 |
343 |
N/A |
INTRINSIC |
|
SH3
|
347 |
404 |
2.16e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133421
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163668
AA Change: V294A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: V294A
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
7 |
259 |
2.06e-92 |
SMART |
|
low complexity region
|
272 |
318 |
N/A |
INTRINSIC |
|
SH3
|
322 |
379 |
2.16e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151145
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140801
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146400
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151354
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142720
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142689
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140899
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
| Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
| Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
| Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
| Or8d6 |
T |
C |
9: 39,853,816 (GRCm39) |
S87P |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
| Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
| Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
| S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
| Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
| Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
Het |
|
| Other mutations in Sh3glb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02189:Sh3glb2
|
APN |
2 |
30,235,351 (GRCm39) |
splice site |
probably null |
|
|
IGL02724:Sh3glb2
|
APN |
2 |
30,236,368 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03352:Sh3glb2
|
APN |
2 |
30,235,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Sh3glb2
|
UTSW |
2 |
30,240,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1517:Sh3glb2
|
UTSW |
2 |
30,244,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1725:Sh3glb2
|
UTSW |
2 |
30,240,679 (GRCm39) |
nonsense |
probably null |
|
|
R3894:Sh3glb2
|
UTSW |
2 |
30,245,300 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4523:Sh3glb2
|
UTSW |
2 |
30,240,711 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5587:Sh3glb2
|
UTSW |
2 |
30,244,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5933:Sh3glb2
|
UTSW |
2 |
30,240,401 (GRCm39) |
splice site |
probably null |
|
|
R6215:Sh3glb2
|
UTSW |
2 |
30,235,805 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6679:Sh3glb2
|
UTSW |
2 |
30,240,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Sh3glb2
|
UTSW |
2 |
30,245,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8499:Sh3glb2
|
UTSW |
2 |
30,249,216 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8500:Sh3glb2
|
UTSW |
2 |
30,249,216 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9380:Sh3glb2
|
UTSW |
2 |
30,238,625 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9594:Sh3glb2
|
UTSW |
2 |
30,236,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9595:Sh3glb2
|
UTSW |
2 |
30,236,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation