Incidental Mutation 'R5018:Sh3gl2'
| ID |
389046 |
| 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 |
042609-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85123663-85307617 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 85309291 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030212]
[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 |
unknown
Transcript: ENSMUST00000107188
AA Change: E339G
|
| SMART Domains |
Protein: ENSMUSP00000102806
Gene: ENSMUSG00000028488
AA Change: E339G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133109
|
| SMART Domains |
Protein: ENSMUSP00000117573
Gene: ENSMUSG00000028488
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
1 |
180 |
3.83e-37 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
98% (49/50) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
T |
14: 68,809,228 (GRCm39) |
F245I |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Alx4 |
G |
T |
2: 93,507,764 (GRCm39) |
G353V |
probably damaging |
Het |
| Apol7b |
A |
G |
15: 77,308,916 (GRCm39) |
F61L |
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,928 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
C |
A |
2: 143,704,802 (GRCm39) |
R17L |
possibly damaging |
Het |
| Birc6 |
T |
A |
17: 74,947,054 (GRCm39) |
D2926E |
probably damaging |
Het |
| Dmwd |
A |
G |
7: 18,812,044 (GRCm39) |
D166G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,260 (GRCm39) |
S1233P |
possibly damaging |
Het |
| Dnah11 |
G |
T |
12: 118,094,463 (GRCm39) |
N868K |
probably benign |
Het |
| Eea1 |
T |
C |
10: 95,846,899 (GRCm39) |
V393A |
probably benign |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,730,109 (GRCm39) |
V67A |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,722,787 (GRCm39) |
|
probably null |
Het |
| Hal |
T |
C |
10: 93,343,413 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
T |
1: 192,277,346 (GRCm39) |
L371Q |
probably damaging |
Het |
| Hpse2 |
A |
G |
19: 43,373,263 (GRCm39) |
F122S |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,099,972 (GRCm39) |
I1509V |
probably benign |
Het |
| Klhl20 |
T |
C |
1: 160,929,156 (GRCm39) |
D334G |
probably damaging |
Het |
| Macf1 |
C |
T |
4: 123,279,392 (GRCm39) |
D3870N |
probably damaging |
Het |
| Nlrc5 |
C |
T |
8: 95,252,080 (GRCm39) |
A1867V |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,111 (GRCm39) |
L330P |
probably damaging |
Het |
| Or10g3b |
A |
C |
14: 52,586,736 (GRCm39) |
C256G |
possibly damaging |
Het |
| Pcdh15 |
T |
G |
10: 74,479,607 (GRCm39) |
S573A |
possibly damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Scd4 |
T |
A |
19: 44,326,048 (GRCm39) |
M134K |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,018,175 (GRCm39) |
S865T |
probably benign |
Het |
| Slitrk3 |
G |
A |
3: 72,957,845 (GRCm39) |
T309I |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,432,634 (GRCm39) |
E837K |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,833,672 (GRCm39) |
D1095G |
probably benign |
Het |
| Trat1 |
A |
T |
16: 48,555,168 (GRCm39) |
L188* |
probably null |
Het |
| Ubn1 |
A |
G |
16: 4,881,589 (GRCm39) |
D207G |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,281,052 (GRCm39) |
Y219H |
probably damaging |
Het |
| Ugt2b1 |
G |
T |
5: 87,073,821 (GRCm39) |
Y179* |
probably null |
Het |
| Vmn2r27 |
T |
A |
6: 124,201,141 (GRCm39) |
D272V |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,774 (GRCm39) |
E497G |
probably benign |
Het |
| Vmn2r91 |
G |
T |
17: 18,356,700 (GRCm39) |
C789F |
probably damaging |
Het |
| Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GTCCAAGTCAGTCTGTCAGTC -3'
(R):5'- AAGTCTGTGGTATCATTGCAGG -3'
Sequencing Primer
(F):5'- AGTAGGTGGTATCTCCCCTAACAG -3'
(R):5'- GAGGGTGGAAATACATTTGTAAAATC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation