Incidental Mutation 'IGL02721:Sh3gl1'
ID |
305017 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh3gl1
|
Ensembl Gene |
ENSMUSG00000003200 |
Gene Name |
SH3-domain GRB2-like 1 |
Synonyms |
endophilin A2, EEN, endophilin II, Sh3d2b, SH3P8 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02721
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
56323750-56343635 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56324577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 357
(L357P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003268
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003268]
[ENSMUST00000149441]
[ENSMUST00000159996]
[ENSMUST00000162883]
|
AlphaFold |
Q62419 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003268
AA Change: L357P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000003268 Gene: ENSMUSG00000003200 AA Change: L357P
Domain | Start | End | E-Value | Type |
BAR
|
5 |
242 |
1.05e-98 |
SMART |
low complexity region
|
250 |
264 |
N/A |
INTRINSIC |
SH3
|
309 |
364 |
7.62e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131218
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149441
|
SMART Domains |
Protein: ENSMUSP00000119745 Gene: ENSMUSG00000003199
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
low complexity region
|
32 |
71 |
N/A |
INTRINSIC |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
JAB_MPN
|
260 |
382 |
1.35e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153197
|
SMART Domains |
Protein: ENSMUSP00000125535 Gene: ENSMUSG00000003199
Domain | Start | End | E-Value | Type |
low complexity region
|
30 |
43 |
N/A |
INTRINSIC |
Pfam:JAB
|
112 |
243 |
6.1e-11 |
PFAM |
Pfam:Prok-JAB
|
125 |
258 |
1.2e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159340
|
SMART Domains |
Protein: ENSMUSP00000125555 Gene: ENSMUSG00000003199
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
27 |
N/A |
INTRINSIC |
low complexity region
|
29 |
68 |
N/A |
INTRINSIC |
low complexity region
|
169 |
182 |
N/A |
INTRINSIC |
Blast:JAB_MPN
|
257 |
350 |
3e-55 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159420
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159996
|
SMART Domains |
Protein: ENSMUSP00000124644 Gene: ENSMUSG00000003199
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
low complexity region
|
32 |
71 |
N/A |
INTRINSIC |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
JAB_MPN
|
260 |
382 |
1.35e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162883
|
SMART Domains |
Protein: ENSMUSP00000124128 Gene: ENSMUSG00000003199
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
30 |
N/A |
INTRINSIC |
low complexity region
|
32 |
71 |
N/A |
INTRINSIC |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
Pfam:Prok-JAB
|
230 |
340 |
1.6e-8 |
PFAM |
Pfam:JAB
|
236 |
311 |
1.7e-9 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal life span and no obvious phenotypic defects. Mice homozygous for knock-out alleles of Sh3gl1-3 exhibit neonatal lethality, respiratory distress, absence of gastric milk, abnormal synaptic transmissionand abnormal synaptic vesicle recycling. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
A |
9: 55,888,124 (GRCm39) |
I398L |
probably benign |
Het |
4931414P19Rik |
A |
G |
14: 54,823,202 (GRCm39) |
S332P |
probably damaging |
Het |
Abca7 |
T |
C |
10: 79,849,469 (GRCm39) |
S1877P |
possibly damaging |
Het |
Adora2b |
G |
T |
11: 62,155,931 (GRCm39) |
A127S |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,987,071 (GRCm39) |
K2785R |
probably benign |
Het |
Anapc2 |
G |
A |
2: 25,164,680 (GRCm39) |
W21* |
probably null |
Het |
Atp7b |
A |
G |
8: 22,512,493 (GRCm39) |
S457P |
probably benign |
Het |
Catsperb |
A |
G |
12: 101,591,556 (GRCm39) |
Q1046R |
probably null |
Het |
Comp |
A |
T |
8: 70,828,731 (GRCm39) |
N188Y |
probably damaging |
Het |
Crnkl1 |
A |
T |
2: 145,765,801 (GRCm39) |
I423K |
possibly damaging |
Het |
Crtap |
A |
T |
9: 114,210,707 (GRCm39) |
V289E |
probably damaging |
Het |
Ctnna2 |
T |
C |
6: 76,958,852 (GRCm39) |
N454S |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,234,389 (GRCm39) |
|
probably null |
Het |
Dstyk |
T |
G |
1: 132,377,054 (GRCm39) |
V220G |
probably benign |
Het |
E230025N22Rik |
C |
T |
18: 36,828,664 (GRCm39) |
V5M |
probably damaging |
Het |
Fam111a |
T |
G |
19: 12,564,336 (GRCm39) |
N28K |
probably benign |
Het |
Fbxo32 |
A |
G |
15: 58,046,358 (GRCm39) |
I284T |
possibly damaging |
Het |
Fgb |
A |
C |
3: 82,950,674 (GRCm39) |
V360G |
possibly damaging |
Het |
Gm3404 |
A |
T |
5: 146,463,738 (GRCm39) |
R128* |
probably null |
Het |
Hal |
G |
T |
10: 93,343,360 (GRCm39) |
G535* |
probably null |
Het |
Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
Igsf5 |
T |
A |
16: 96,192,222 (GRCm39) |
S274T |
probably damaging |
Het |
Kdm7a |
C |
T |
6: 39,150,371 (GRCm39) |
A134T |
possibly damaging |
Het |
Klhl25 |
G |
T |
7: 75,516,648 (GRCm39) |
W518L |
probably damaging |
Het |
Map1a |
A |
T |
2: 121,134,518 (GRCm39) |
D1778V |
probably benign |
Het |
Nif3l1 |
A |
G |
1: 58,497,008 (GRCm39) |
D311G |
probably damaging |
Het |
Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
Nup54 |
A |
T |
5: 92,565,716 (GRCm39) |
I406N |
possibly damaging |
Het |
Or10ab5 |
G |
T |
7: 108,245,582 (GRCm39) |
S67* |
probably null |
Het |
Or2y1d |
T |
A |
11: 49,321,468 (GRCm39) |
L55* |
probably null |
Het |
Or6c210 |
C |
T |
10: 129,495,824 (GRCm39) |
P50S |
probably benign |
Het |
Or6c211 |
A |
T |
10: 129,505,992 (GRCm39) |
I132N |
probably benign |
Het |
Pcdhb18 |
T |
A |
18: 37,623,084 (GRCm39) |
M138K |
probably benign |
Het |
Pik3c2g |
A |
G |
6: 139,682,699 (GRCm39) |
T27A |
probably benign |
Het |
Plekhb2 |
A |
G |
1: 34,908,445 (GRCm39) |
N163S |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,048,927 (GRCm39) |
|
probably benign |
Het |
Skint5 |
T |
A |
4: 113,799,746 (GRCm39) |
D141V |
probably damaging |
Het |
Slc10a5 |
A |
G |
3: 10,399,595 (GRCm39) |
V355A |
probably benign |
Het |
Speer1c |
T |
C |
5: 10,293,883 (GRCm39) |
K106E |
probably damaging |
Het |
Ssh2 |
G |
T |
11: 77,345,551 (GRCm39) |
G1179* |
probably null |
Het |
Syde2 |
A |
G |
3: 145,707,759 (GRCm39) |
N566S |
probably damaging |
Het |
Sytl1 |
T |
C |
4: 132,986,189 (GRCm39) |
R149G |
probably benign |
Het |
Tnpo2 |
A |
G |
8: 85,781,319 (GRCm39) |
|
probably null |
Het |
Top2b |
T |
C |
14: 16,409,236 (GRCm38) |
L793P |
probably damaging |
Het |
U2surp |
T |
A |
9: 95,356,488 (GRCm39) |
E789D |
probably benign |
Het |
Vps13c |
G |
A |
9: 67,871,431 (GRCm39) |
|
probably benign |
Het |
Zbtb34 |
C |
T |
2: 33,301,270 (GRCm39) |
G424R |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,308,367 (GRCm39) |
D531G |
possibly damaging |
Het |
Zfp787 |
C |
T |
7: 6,135,463 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Sh3gl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01784:Sh3gl1
|
APN |
17 |
56,326,325 (GRCm39) |
missense |
possibly damaging |
0.48 |
feroce
|
UTSW |
17 |
56,324,617 (GRCm39) |
missense |
possibly damaging |
0.84 |
sauvage
|
UTSW |
17 |
56,326,038 (GRCm39) |
critical splice donor site |
probably null |
|
R0092:Sh3gl1
|
UTSW |
17 |
56,325,088 (GRCm39) |
missense |
probably benign |
0.00 |
R0525:Sh3gl1
|
UTSW |
17 |
56,324,873 (GRCm39) |
missense |
probably benign |
0.00 |
R3684:Sh3gl1
|
UTSW |
17 |
56,325,953 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3792:Sh3gl1
|
UTSW |
17 |
56,325,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R4282:Sh3gl1
|
UTSW |
17 |
56,343,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R4298:Sh3gl1
|
UTSW |
17 |
56,326,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R5868:Sh3gl1
|
UTSW |
17 |
56,326,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R6304:Sh3gl1
|
UTSW |
17 |
56,343,431 (GRCm39) |
missense |
probably benign |
0.01 |
R6379:Sh3gl1
|
UTSW |
17 |
56,326,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6523:Sh3gl1
|
UTSW |
17 |
56,324,617 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7146:Sh3gl1
|
UTSW |
17 |
56,324,646 (GRCm39) |
missense |
probably damaging |
1.00 |
R7174:Sh3gl1
|
UTSW |
17 |
56,324,846 (GRCm39) |
missense |
probably benign |
0.01 |
R7922:Sh3gl1
|
UTSW |
17 |
56,326,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R8248:Sh3gl1
|
UTSW |
17 |
56,326,038 (GRCm39) |
critical splice donor site |
probably null |
|
R8429:Sh3gl1
|
UTSW |
17 |
56,325,821 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8460:Sh3gl1
|
UTSW |
17 |
56,326,321 (GRCm39) |
missense |
probably benign |
0.16 |
R9258:Sh3gl1
|
UTSW |
17 |
56,325,911 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2015-04-16 |