Incidental Mutation 'IGL00505:Gm3404'
| ID |
332519 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm3404
|
| Ensembl Gene |
ENSMUSG00000079091 |
| Gene Name |
predicted gene 3404 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.177)
|
| Stock # |
IGL00505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
146462611-146465363 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 146465095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 278
(D278E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106226
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110596]
|
| AlphaFold |
Q9D506 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110596
AA Change: D278E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106226
Gene: ENSMUSG00000079091
AA Change: D278E
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
66 |
181 |
2.8e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,968,459 (GRCm39) |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 52,933,885 (GRCm39) |
H459R |
possibly damaging |
Het |
| Anxa5 |
A |
G |
3: 36,511,646 (GRCm39) |
S144P |
possibly damaging |
Het |
| Cacna1h |
T |
G |
17: 25,600,482 (GRCm39) |
T1620P |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,412,258 (GRCm39) |
T444P |
probably benign |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,519,012 (GRCm39) |
N421K |
probably damaging |
Het |
| Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
| Dnai4 |
G |
T |
4: 102,960,439 (GRCm39) |
S70R |
possibly damaging |
Het |
| Gabrq |
T |
C |
X: 71,881,971 (GRCm39) |
S601P |
probably damaging |
Het |
| Gpr61 |
A |
G |
3: 108,058,514 (GRCm39) |
M49T |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,219,827 (GRCm39) |
F253S |
probably damaging |
Het |
| Ndst3 |
G |
A |
3: 123,421,599 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
C |
T |
1: 191,812,271 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
C |
A |
16: 36,574,137 (GRCm39) |
C572F |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,029,077 (GRCm39) |
I132T |
probably damaging |
Het |
| Spag6 |
C |
A |
2: 18,738,995 (GRCm39) |
N308K |
probably benign |
Het |
| Stac |
C |
T |
9: 111,464,107 (GRCm39) |
R53Q |
probably damaging |
Het |
| Tekt3 |
A |
G |
11: 62,961,064 (GRCm39) |
S78G |
probably benign |
Het |
| Vdac3 |
C |
T |
8: 23,070,393 (GRCm39) |
G172S |
possibly damaging |
Het |
| Wdr87-ps |
A |
C |
7: 29,233,608 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Gm3404 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01611:Gm3404
|
APN |
5 |
146,465,157 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02721:Gm3404
|
APN |
5 |
146,463,738 (GRCm39) |
nonsense |
probably null |
|
|
IGL03134:Gm3404
|
UTSW |
5 |
146,463,706 (GRCm39) |
missense |
probably benign |
|
|
R1758:Gm3404
|
UTSW |
5 |
146,463,036 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6324:Gm3404
|
UTSW |
5 |
146,464,917 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6641:Gm3404
|
UTSW |
5 |
146,464,518 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6671:Gm3404
|
UTSW |
5 |
146,464,487 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7042:Gm3404
|
UTSW |
5 |
146,462,969 (GRCm39) |
missense |
probably benign |
|
|
R8331:Gm3404
|
UTSW |
5 |
146,462,759 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8395:Gm3404
|
UTSW |
5 |
146,462,724 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8547:Gm3404
|
UTSW |
5 |
146,465,108 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8874:Gm3404
|
UTSW |
5 |
146,464,953 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9280:Gm3404
|
UTSW |
5 |
146,462,756 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9671:Gm3404
|
UTSW |
5 |
146,463,031 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Gm3404
|
UTSW |
5 |
146,463,026 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation