Incidental Mutation 'IGL02989:Sh3gl3'
ID |
406841 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sh3gl3
|
Ensembl Gene |
ENSMUSG00000030638 |
Gene Name |
SH3-domain GRB2-like 3 |
Synonyms |
Sh3d2c2, endophilin A3, EEN-B2, endophilin III, SH3P13, Sh3d2c |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02989
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
81824581-81956618 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 81923087 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 117
(V117A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032874
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032874]
[ENSMUST00000177883]
[ENSMUST00000177895]
[ENSMUST00000178526]
[ENSMUST00000179318]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032874
AA Change: V117A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000032874 Gene: ENSMUSG00000030638 AA Change: V117A
Domain | Start | End | E-Value | Type |
BAR
|
5 |
242 |
2.43e-89 |
SMART |
SH3
|
288 |
343 |
5.77e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177883
|
SMART Domains |
Protein: ENSMUSP00000137207 Gene: ENSMUSG00000030638
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
6 |
65 |
2.6e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177895
|
SMART Domains |
Protein: ENSMUSP00000137570 Gene: ENSMUSG00000030638
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
6 |
65 |
8.5e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178526
AA Change: V17A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000137482 Gene: ENSMUSG00000030638 AA Change: V17A
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
1 |
116 |
5.9e-37 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179318
AA Change: V82A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000137621 Gene: ENSMUSG00000030638 AA Change: V82A
Domain | Start | End | E-Value | Type |
BAR
|
1 |
207 |
1.23e-58 |
SMART |
SH3
|
253 |
308 |
5.77e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179800
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180183
|
SMART Domains |
Protein: ENSMUSP00000136482 Gene: ENSMUSG00000030638
Domain | Start | End | E-Value | Type |
Pfam:BAR
|
1 |
153 |
3.8e-47 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180243
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
T |
A |
19: 20,617,422 (GRCm39) |
|
probably benign |
Het |
Arhgap15 |
A |
G |
2: 43,670,748 (GRCm39) |
D44G |
probably damaging |
Het |
Arhgap35 |
A |
T |
7: 16,231,580 (GRCm39) |
*1500R |
probably null |
Het |
Arid1b |
A |
G |
17: 5,385,322 (GRCm39) |
Y1413C |
probably damaging |
Het |
Atf6 |
A |
G |
1: 170,616,252 (GRCm39) |
|
probably benign |
Het |
Cant1 |
T |
C |
11: 118,302,038 (GRCm39) |
Y93C |
probably damaging |
Het |
Cat |
A |
G |
2: 103,303,318 (GRCm39) |
F153S |
probably damaging |
Het |
Ccdc187 |
G |
A |
2: 26,166,443 (GRCm39) |
R712W |
possibly damaging |
Het |
Clpb |
T |
C |
7: 101,428,427 (GRCm39) |
S396P |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 116,339,813 (GRCm39) |
|
probably benign |
Het |
Dap3 |
G |
A |
3: 88,837,878 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,046,403 (GRCm39) |
D3195V |
probably damaging |
Het |
Eprs1 |
T |
G |
1: 185,150,563 (GRCm39) |
F1355C |
probably benign |
Het |
Faim2 |
A |
G |
15: 99,418,243 (GRCm39) |
|
probably benign |
Het |
Fancg |
A |
G |
4: 43,007,121 (GRCm39) |
|
probably benign |
Het |
Fbxo42 |
T |
A |
4: 140,926,845 (GRCm39) |
I375N |
probably damaging |
Het |
Gabrr3 |
A |
T |
16: 59,268,371 (GRCm39) |
D328V |
probably damaging |
Het |
Gm5849 |
T |
A |
3: 90,685,107 (GRCm39) |
D26V |
probably damaging |
Het |
Gm6563 |
T |
C |
19: 23,653,234 (GRCm39) |
L8P |
possibly damaging |
Het |
Gpld1 |
A |
G |
13: 25,174,019 (GRCm39) |
N815D |
possibly damaging |
Het |
Hrob |
A |
G |
11: 102,146,125 (GRCm39) |
I134V |
probably benign |
Het |
Idh2 |
T |
A |
7: 79,748,856 (GRCm39) |
I142F |
probably damaging |
Het |
Kcnh7 |
A |
C |
2: 62,552,269 (GRCm39) |
N907K |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,306,894 (GRCm39) |
T336A |
possibly damaging |
Het |
Or4c15 |
A |
T |
2: 88,760,048 (GRCm39) |
S204T |
possibly damaging |
Het |
Or52i2 |
T |
C |
7: 102,319,651 (GRCm39) |
S175P |
possibly damaging |
Het |
Or5b3 |
C |
A |
19: 13,388,850 (GRCm39) |
Q306K |
probably benign |
Het |
Pilrb1 |
C |
A |
5: 137,855,492 (GRCm39) |
R133L |
possibly damaging |
Het |
Pitpnm3 |
C |
A |
11: 72,011,012 (GRCm39) |
|
probably benign |
Het |
Prkdc |
C |
T |
16: 15,617,880 (GRCm39) |
T3237I |
possibly damaging |
Het |
Pspc1 |
A |
G |
14: 57,009,153 (GRCm39) |
|
probably benign |
Het |
Rasgrp4 |
G |
A |
7: 28,847,831 (GRCm39) |
E414K |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,122,463 (GRCm39) |
L82Q |
probably damaging |
Het |
Shisa5 |
G |
A |
9: 108,885,062 (GRCm39) |
A112T |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,634,820 (GRCm39) |
H662Q |
probably benign |
Het |
Tedc1 |
A |
G |
12: 113,126,941 (GRCm39) |
E401G |
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,656,341 (GRCm39) |
M940T |
probably benign |
Het |
Vmn1r129 |
A |
T |
7: 21,094,663 (GRCm39) |
V185E |
probably damaging |
Het |
Zfp982 |
C |
A |
4: 147,597,052 (GRCm39) |
D136E |
possibly damaging |
Het |
|
Other mutations in Sh3gl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02616:Sh3gl3
|
APN |
7 |
81,934,226 (GRCm39) |
splice site |
probably benign |
|
R1228:Sh3gl3
|
UTSW |
7 |
81,824,723 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
R1801:Sh3gl3
|
UTSW |
7 |
81,933,327 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2109:Sh3gl3
|
UTSW |
7 |
81,920,008 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5752:Sh3gl3
|
UTSW |
7 |
81,824,696 (GRCm39) |
intron |
probably benign |
|
R6881:Sh3gl3
|
UTSW |
7 |
81,956,178 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7162:Sh3gl3
|
UTSW |
7 |
81,933,350 (GRCm39) |
missense |
probably benign |
|
R7570:Sh3gl3
|
UTSW |
7 |
81,934,285 (GRCm39) |
missense |
probably benign |
|
R7710:Sh3gl3
|
UTSW |
7 |
81,933,294 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8029:Sh3gl3
|
UTSW |
7 |
81,920,091 (GRCm39) |
missense |
probably benign |
0.02 |
R8834:Sh3gl3
|
UTSW |
7 |
81,955,999 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9641:Sh3gl3
|
UTSW |
7 |
81,909,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R9733:Sh3gl3
|
UTSW |
7 |
81,917,562 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2016-08-02 |