Incidental Mutation 'R4298:Sh3gl1'
| ID |
368400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3gl1
|
| Ensembl Gene |
ENSMUSG00000003200 |
| Gene Name |
SH3-domain GRB2-like 1 |
| Synonyms |
endophilin A2, EEN, endophilin II, Sh3d2b, SH3P8 |
| MMRRC Submission |
041086-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56323750-56343635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56326173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 111
(G111D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003268
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003268]
[ENSMUST00000149441]
[ENSMUST00000159996]
[ENSMUST00000162883]
|
| AlphaFold |
Q62419 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003268
AA Change: G111D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003268
Gene: ENSMUSG00000003200
AA Change: G111D
| 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 |
|
| Meta Mutation Damage Score |
0.9270 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| 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 |
|---|
| Abcc12 |
T |
C |
8: 87,258,154 (GRCm39) |
|
probably null |
Het |
| Ccser2 |
T |
A |
14: 36,612,337 (GRCm39) |
Q158L |
possibly damaging |
Het |
| Cct7 |
T |
A |
6: 85,445,155 (GRCm39) |
C469S |
probably damaging |
Het |
| Chmp7 |
A |
T |
14: 69,956,650 (GRCm39) |
|
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,299,737 (GRCm39) |
D31N |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,493,172 (GRCm39) |
V441E |
probably benign |
Het |
| Cyp4a10 |
T |
C |
4: 115,389,889 (GRCm39) |
L498P |
probably damaging |
Het |
| Dsc3 |
A |
T |
18: 20,113,811 (GRCm39) |
N370K |
possibly damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Ebf3 |
C |
T |
7: 136,826,958 (GRCm39) |
R318Q |
possibly damaging |
Het |
| Epcam |
T |
C |
17: 87,947,962 (GRCm39) |
|
probably null |
Het |
| Erich6 |
G |
T |
3: 58,531,712 (GRCm39) |
A428D |
probably benign |
Het |
| Ext1 |
A |
T |
15: 53,208,521 (GRCm39) |
I80N |
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,084,969 (GRCm39) |
E667G |
probably damaging |
Het |
| F2 |
T |
G |
2: 91,459,665 (GRCm39) |
|
probably null |
Het |
| Fbxw16 |
T |
C |
9: 109,275,625 (GRCm39) |
I135V |
probably benign |
Het |
| Glipr1l1 |
A |
T |
10: 111,898,252 (GRCm39) |
D119V |
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,583,437 (GRCm39) |
A144V |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,165,882 (GRCm39) |
R252H |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,809,472 (GRCm39) |
T381A |
probably damaging |
Het |
| Mcpt4 |
A |
T |
14: 56,298,444 (GRCm39) |
V97D |
possibly damaging |
Het |
| Nefh |
A |
G |
11: 4,890,066 (GRCm39) |
I851T |
probably benign |
Het |
| Nf1 |
A |
T |
11: 79,275,070 (GRCm39) |
I44F |
probably damaging |
Het |
| Nyap2 |
A |
T |
1: 81,218,811 (GRCm39) |
I278F |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,993 (GRCm39) |
T240S |
probably benign |
Het |
| Or4f7d-ps1 |
G |
T |
2: 111,674,789 (GRCm39) |
|
noncoding transcript |
Het |
| Pdcd4 |
C |
A |
19: 53,908,092 (GRCm39) |
P201Q |
probably damaging |
Het |
| Pramel16 |
A |
T |
4: 143,675,713 (GRCm39) |
L371* |
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,823,728 (GRCm39) |
T179A |
probably benign |
Het |
| Qrfpr |
T |
A |
3: 36,243,703 (GRCm39) |
I133F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,453 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
C |
5: 22,125,485 (GRCm39) |
C2733G |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sag |
G |
C |
1: 87,772,737 (GRCm39) |
D402H |
probably benign |
Het |
| Sbk3 |
T |
A |
7: 4,972,979 (GRCm39) |
T64S |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Spata20 |
G |
A |
11: 94,373,914 (GRCm39) |
R379W |
probably damaging |
Het |
| St3gal2 |
T |
C |
8: 111,688,991 (GRCm39) |
M177T |
probably benign |
Het |
| Stk39 |
C |
T |
2: 68,221,284 (GRCm39) |
G213D |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,222,603 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,939 (GRCm39) |
S63P |
probably damaging |
Het |
| Tnfrsf13b |
C |
G |
11: 61,031,643 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,554,394 (GRCm39) |
A30807D |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,238,948 (GRCm39) |
N158S |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,801 (GRCm39) |
I845N |
possibly damaging |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,830 (GRCm39) |
M244I |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,309,997 (GRCm39) |
V87A |
probably damaging |
Het |
| Zwilch |
A |
G |
9: 64,062,444 (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 |
|
IGL02721:Sh3gl1
|
APN |
17 |
56,324,577 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATTTCTTCAGGTGGTGC -3'
(R):5'- CCATGGCAAGGAACTAGGTG -3'
Sequencing Primer
(F):5'- TACAGCTGCGTAAGGGCAC -3'
(R):5'- GGAGAGTCCAACTTCGGTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation