Incidental Mutation 'IGL02297:Gm12888'
| ID |
290206 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gm12888
|
| Ensembl Gene |
ENSMUSG00000073764 |
| Gene Name |
predicted gene 12888 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
IGL02297
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
121173513-121182114 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121181996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 32
(E32G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097905]
|
| AlphaFold |
Q3UW77 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097905
AA Change: E32G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095515
Gene: ENSMUSG00000073764
AA Change: E32G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:Palm_thioest
|
32 |
119 |
2e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aifm2 |
C |
T |
10: 61,571,327 (GRCm39) |
A287V |
possibly damaging |
Het |
| Aqr |
A |
G |
2: 113,980,962 (GRCm39) |
I273T |
probably benign |
Het |
| Arid3c |
T |
C |
4: 41,730,021 (GRCm39) |
E58G |
possibly damaging |
Het |
| Col5a3 |
G |
T |
9: 20,683,450 (GRCm39) |
T1574K |
unknown |
Het |
| Dbh |
T |
C |
2: 27,067,748 (GRCm39) |
V457A |
probably benign |
Het |
| Gnaq |
A |
G |
19: 16,355,615 (GRCm39) |
D277G |
probably damaging |
Het |
| Il20 |
G |
A |
1: 130,836,145 (GRCm39) |
H133Y |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,316,478 (GRCm39) |
F58L |
possibly damaging |
Het |
| Lynx1 |
G |
T |
15: 74,623,491 (GRCm39) |
Q19K |
probably benign |
Het |
| Lyst |
G |
T |
13: 13,812,677 (GRCm39) |
E1030* |
probably null |
Het |
| Matn1 |
T |
A |
4: 130,679,575 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
A |
T |
7: 49,243,977 (GRCm39) |
N2068I |
probably damaging |
Het |
| Or5b3 |
C |
T |
19: 13,388,839 (GRCm39) |
T302I |
probably benign |
Het |
| Or8g30 |
T |
C |
9: 39,229,999 (GRCm39) |
I304V |
possibly damaging |
Het |
| Slc25a23 |
G |
T |
17: 57,360,324 (GRCm39) |
Q273K |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,106,282 (GRCm39) |
C155G |
probably benign |
Het |
| Txnip |
T |
C |
3: 96,465,673 (GRCm39) |
V41A |
probably damaging |
Het |
| Wnt16 |
C |
A |
6: 22,297,990 (GRCm39) |
Y285* |
probably null |
Het |
|
| Other mutations in Gm12888 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00588:Gm12888
|
APN |
4 |
121,176,642 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01113:Gm12888
|
APN |
4 |
121,175,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2064:Gm12888
|
UTSW |
4 |
121,182,069 (GRCm39) |
missense |
unknown |
|
|
R2096:Gm12888
|
UTSW |
4 |
121,176,655 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2447:Gm12888
|
UTSW |
4 |
121,175,547 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5800:Gm12888
|
UTSW |
4 |
121,176,625 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6406:Gm12888
|
UTSW |
4 |
121,176,654 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8255:Gm12888
|
UTSW |
4 |
121,181,994 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9159:Gm12888
|
UTSW |
4 |
121,176,600 (GRCm39) |
missense |
probably null |
|
|
R9299:Gm12888
|
UTSW |
4 |
121,182,044 (GRCm39) |
missense |
unknown |
|
|
R9738:Gm12888
|
UTSW |
4 |
121,175,520 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Gm12888
|
UTSW |
4 |
121,182,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation