Incidental Mutation 'IGL01147:Sh3gl2'
| ID |
50987 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sh3gl2
|
| Ensembl Gene |
ENSMUSG00000028488 |
| Gene Name |
SH3-domain GRB2-like 2 |
| Synonyms |
Sh3d2a, EEN1, 9530001L19Rik, endophilin I, EEN-B1, B930049H17Rik, endophilin A1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01147
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
85123663-85307617 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 85265433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030212]
[ENSMUST00000107184]
[ENSMUST00000107188]
[ENSMUST00000107189]
|
| AlphaFold |
Q62420 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030212
|
| SMART Domains |
Protein: ENSMUSP00000030212
Gene: ENSMUSG00000028488
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
5 |
242 |
2.13e-94 |
SMART |
|
SH3
|
293 |
348 |
3.19e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107184
|
| SMART Domains |
Protein: ENSMUSP00000102802
Gene: ENSMUSG00000028488
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
5 |
177 |
1.24e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107188
|
| SMART Domains |
Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
5 |
242 |
2.13e-94 |
SMART |
|
SH3
|
293 |
351 |
4.78e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107189
|
| SMART Domains |
Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
5 |
242 |
2.13e-94 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are normal and fertile. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmission and abnormal synaptic vesicle recycling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,234,611 (GRCm39) |
|
probably benign |
Het |
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Cdh1 |
C |
A |
8: 107,387,516 (GRCm39) |
T472K |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
| Cfp |
G |
A |
X: 20,794,981 (GRCm39) |
R155C |
probably damaging |
Het |
| Chst7 |
T |
C |
X: 19,926,991 (GRCm39) |
I346T |
probably damaging |
Het |
| Crybg2 |
G |
A |
4: 133,816,575 (GRCm39) |
|
probably null |
Het |
| Ctsc |
T |
A |
7: 87,951,479 (GRCm39) |
V242D |
possibly damaging |
Het |
| Cyp27b1 |
C |
T |
10: 126,886,255 (GRCm39) |
T312I |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,921,815 (GRCm39) |
D80G |
possibly damaging |
Het |
| Enpp3 |
G |
T |
10: 24,650,805 (GRCm39) |
T777K |
probably damaging |
Het |
| H2-M1 |
T |
A |
17: 36,982,199 (GRCm39) |
H134L |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,452,793 (GRCm39) |
S2105P |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,806,697 (GRCm39) |
S2388P |
probably benign |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,922 (GRCm39) |
|
probably benign |
Het |
| Il1rapl2 |
C |
T |
X: 137,121,325 (GRCm39) |
|
probably benign |
Het |
| Itpka |
T |
C |
2: 119,573,254 (GRCm39) |
L132P |
probably benign |
Het |
| Jak3 |
T |
C |
8: 72,136,047 (GRCm39) |
S616P |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,193 (GRCm39) |
K377E |
probably benign |
Het |
| Map4k3 |
A |
T |
17: 80,944,147 (GRCm39) |
|
probably null |
Het |
| Parp1 |
T |
C |
1: 180,417,145 (GRCm39) |
I643T |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,843,250 (GRCm39) |
D1903G |
probably damaging |
Het |
| Picalm |
G |
T |
7: 89,826,800 (GRCm39) |
S416I |
probably benign |
Het |
| Pkn2 |
T |
C |
3: 142,534,770 (GRCm39) |
N285S |
probably benign |
Het |
| Smpd1 |
C |
A |
7: 105,204,943 (GRCm39) |
T274K |
probably damaging |
Het |
| Snap91 |
G |
A |
9: 86,680,611 (GRCm39) |
T424M |
probably benign |
Het |
| Sox13 |
T |
A |
1: 133,320,873 (GRCm39) |
T46S |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,002,691 (GRCm39) |
Q8075* |
probably null |
Het |
| Trio |
T |
C |
15: 27,881,406 (GRCm39) |
E555G |
probably damaging |
Het |
| Upf3b |
T |
C |
X: 36,360,586 (GRCm39) |
E298G |
probably damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,490,204 (GRCm39) |
S2P |
probably benign |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,626 (GRCm39) |
L74H |
probably damaging |
Het |
| Vwa2 |
T |
C |
19: 56,890,066 (GRCm39) |
S224P |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,632,808 (GRCm39) |
V36E |
probably damaging |
Het |
| Zfp367 |
A |
G |
13: 64,283,253 (GRCm39) |
S300P |
probably damaging |
Het |
|
| Other mutations in Sh3gl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4362001:Sh3gl2
|
UTSW |
4 |
85,295,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0699:Sh3gl2
|
UTSW |
4 |
85,265,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0960:Sh3gl2
|
UTSW |
4 |
85,295,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Sh3gl2
|
UTSW |
4 |
85,304,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3877:Sh3gl2
|
UTSW |
4 |
85,297,618 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4466:Sh3gl2
|
UTSW |
4 |
85,299,688 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4630:Sh3gl2
|
UTSW |
4 |
85,297,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4811:Sh3gl2
|
UTSW |
4 |
85,316,403 (GRCm39) |
intron |
probably benign |
|
|
R4888:Sh3gl2
|
UTSW |
4 |
85,297,494 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5018:Sh3gl2
|
UTSW |
4 |
85,309,291 (GRCm39) |
unclassified |
probably benign |
|
|
R5121:Sh3gl2
|
UTSW |
4 |
85,297,494 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5285:Sh3gl2
|
UTSW |
4 |
85,294,686 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5484:Sh3gl2
|
UTSW |
4 |
85,317,160 (GRCm39) |
intron |
probably benign |
|
|
R5611:Sh3gl2
|
UTSW |
4 |
85,273,568 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6029:Sh3gl2
|
UTSW |
4 |
85,299,651 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7048:Sh3gl2
|
UTSW |
4 |
85,295,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7715:Sh3gl2
|
UTSW |
4 |
85,317,077 (GRCm39) |
splice site |
probably null |
|
|
R7919:Sh3gl2
|
UTSW |
4 |
85,273,595 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8298:Sh3gl2
|
UTSW |
4 |
85,297,647 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8871:Sh3gl2
|
UTSW |
4 |
85,305,817 (GRCm39) |
missense |
|
|
|
R8897:Sh3gl2
|
UTSW |
4 |
85,273,597 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9476:Sh3gl2
|
UTSW |
4 |
85,304,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9510:Sh3gl2
|
UTSW |
4 |
85,304,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Sh3gl2
|
UTSW |
4 |
85,295,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9785:Sh3gl2
|
UTSW |
4 |
85,273,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9796:Sh3gl2
|
UTSW |
4 |
85,295,765 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
| Posted On |
2013-06-21 |
Incidental Mutation