Incidental Mutation 'R3877:Sh3gl2'
| ID |
276894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh3gl2
|
| Ensembl Gene |
ENSMUSG00000028488 |
| Gene Name |
SH3-domain GRB2-like 2 |
| Synonyms |
Sh3d2a, EEN1, 9530001L19Rik, endophilin I, EEN-B1, B930049H17Rik, endophilin A1 |
| MMRRC Submission |
040904-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85123663-85307617 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85297618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 199
(S199P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030212]
[ENSMUST00000107184]
[ENSMUST00000107188]
[ENSMUST00000107189]
|
| AlphaFold |
Q62420 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030212
AA Change: S199P
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030212
Gene: ENSMUSG00000028488
AA Change: S199P
| 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 |
possibly damaging
Transcript: ENSMUST00000107188
AA Change: S199P
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: S199P
| 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
AA Change: S199P
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102807
Gene: ENSMUSG00000028488
AA Change: S199P
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
5 |
242 |
2.13e-94 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000133109
AA Change: S136P
|
| SMART Domains |
Protein: ENSMUSP00000117573
Gene: ENSMUSG00000028488
AA Change: S136P
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
1 |
180 |
3.83e-37 |
SMART |
|
| Meta Mutation Damage Score |
0.0641 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
G |
A |
8: 41,249,671 (GRCm39) |
V594I |
possibly damaging |
Het |
| Adgb |
A |
T |
10: 10,318,227 (GRCm39) |
|
probably null |
Het |
| Adgrb3 |
A |
C |
1: 25,150,906 (GRCm39) |
L1109R |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgap21 |
A |
T |
2: 20,864,717 (GRCm39) |
M1197K |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,239,742 (GRCm39) |
T1319A |
probably damaging |
Het |
| C4bp |
A |
G |
1: 130,575,764 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
T |
C |
16: 44,610,374 (GRCm39) |
S161P |
possibly damaging |
Het |
| Ckap5 |
A |
G |
2: 91,445,495 (GRCm39) |
K1711E |
possibly damaging |
Het |
| Cldn19 |
T |
C |
4: 119,114,094 (GRCm39) |
S79P |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,251,427 (GRCm39) |
S1900P |
probably benign |
Het |
| Dnah17 |
T |
G |
11: 117,915,533 (GRCm39) |
N4334T |
probably damaging |
Het |
| Dpm2 |
G |
A |
2: 32,462,412 (GRCm39) |
|
probably null |
Het |
| Eef1a2 |
A |
T |
2: 180,794,626 (GRCm39) |
V191E |
probably damaging |
Het |
| Gmds |
G |
A |
13: 32,411,248 (GRCm39) |
T62I |
probably damaging |
Het |
| Hyal5 |
A |
T |
6: 24,876,630 (GRCm39) |
I168F |
probably damaging |
Het |
| Idh3a |
T |
C |
9: 54,499,679 (GRCm39) |
V31A |
probably benign |
Het |
| Inf2 |
C |
A |
12: 112,577,264 (GRCm39) |
A1036E |
unknown |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,051,564 (GRCm39) |
|
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,335,206 (GRCm39) |
C779R |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,289,816 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
A |
2: 69,379,391 (GRCm39) |
T107M |
probably damaging |
Het |
| Lrpap1 |
T |
C |
5: 35,255,547 (GRCm39) |
E184G |
probably benign |
Het |
| Mapre1 |
C |
T |
2: 153,588,201 (GRCm39) |
T8M |
possibly damaging |
Het |
| Mms19 |
G |
A |
19: 41,954,695 (GRCm39) |
Q75* |
probably null |
Het |
| Mtcl1 |
T |
C |
17: 66,649,949 (GRCm39) |
I1390V |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,411,289 (GRCm39) |
S1412G |
unknown |
Het |
| Myh4 |
A |
T |
11: 67,148,009 (GRCm39) |
Q1686L |
probably benign |
Het |
| Or1e25 |
A |
T |
11: 73,493,979 (GRCm39) |
D191V |
probably damaging |
Het |
| Or9s13 |
A |
T |
1: 92,547,805 (GRCm39) |
D59V |
probably damaging |
Het |
| Rcvrn |
A |
T |
11: 67,590,802 (GRCm39) |
I129F |
probably damaging |
Het |
| Reg3b |
T |
A |
6: 78,348,216 (GRCm39) |
M10K |
possibly damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,850,529 (GRCm39) |
E918V |
probably damaging |
Het |
| Rpl5 |
A |
G |
5: 108,051,667 (GRCm39) |
T154A |
probably benign |
Het |
| Sall4 |
A |
C |
2: 168,598,162 (GRCm39) |
L195R |
probably damaging |
Het |
| Shank1 |
G |
T |
7: 43,994,416 (GRCm39) |
R859L |
unknown |
Het |
| Thsd7b |
A |
G |
1: 130,117,919 (GRCm39) |
E1445G |
possibly damaging |
Het |
| Tnfaip6 |
A |
G |
2: 51,942,339 (GRCm39) |
E216G |
probably benign |
Het |
| Tram1 |
T |
C |
1: 13,639,827 (GRCm39) |
T307A |
probably benign |
Het |
| Trpv5 |
A |
G |
6: 41,637,277 (GRCm39) |
V354A |
probably benign |
Het |
| Tyro3 |
A |
G |
2: 119,643,774 (GRCm39) |
E745G |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,408 (GRCm39) |
I230N |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,491,357 (GRCm39) |
W297R |
probably damaging |
Het |
| Vrk3 |
A |
T |
7: 44,412,460 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
T |
C |
3: 5,465,845 (GRCm39) |
V2001A |
probably benign |
Het |
| Zfp512b |
AG |
AGG |
2: 181,230,556 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sh3gl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Sh3gl2
|
APN |
4 |
85,265,433 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCACATTTTGGAAGCTACTAGGAATG -3'
(R):5'- TCACTAAGATAAGTGGCCCCTG -3'
Sequencing Primer
(F):5'- TGAGGTACAAGAAGGTCTTTTCC -3'
(R):5'- AAGATAAGTGGCCCCTGTGTGTTC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation