Incidental Mutation 'IGL00551:Fabp12'
| ID |
6930 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fabp12
|
| Ensembl Gene |
ENSMUSG00000027530 |
| Gene Name |
fatty acid binding protein 12 |
| Synonyms |
1700008G05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
IGL00551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
10309269-10366243 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 10311115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029043]
[ENSMUST00000117917]
[ENSMUST00000119761]
[ENSMUST00000172126]
|
| AlphaFold |
Q9DAK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029043
|
| SMART Domains |
Protein: ENSMUSP00000029043
Gene: ENSMUSG00000027530
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
6 |
132 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117917
|
| SMART Domains |
Protein: ENSMUSP00000112464
Gene: ENSMUSG00000027530
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
6 |
132 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119761
|
| SMART Domains |
Protein: ENSMUSP00000112958
Gene: ENSMUSG00000027530
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
6 |
132 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172126
|
| SMART Domains |
Protein: ENSMUSP00000131101
Gene: ENSMUSG00000027530
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
6 |
132 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194040
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Art2b |
C |
T |
7: 101,229,776 (GRCm39) |
C41Y |
probably damaging |
Het |
| Btk |
A |
G |
X: 133,474,683 (GRCm39) |
Y42H |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,625 (GRCm39) |
I76T |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,237,455 (GRCm39) |
V1913A |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,358,122 (GRCm39) |
Y526H |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,882,452 (GRCm39) |
K675* |
probably null |
Het |
| Eif2b1 |
A |
G |
5: 124,714,932 (GRCm39) |
F115L |
probably damaging |
Het |
| Erlin1 |
T |
C |
19: 44,047,585 (GRCm39) |
D112G |
probably damaging |
Het |
| Fam47c |
A |
G |
X: 77,782,060 (GRCm39) |
E214G |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,620,020 (GRCm39) |
|
probably benign |
Het |
| H1f2 |
C |
A |
13: 23,922,828 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
G |
T |
12: 25,088,559 (GRCm39) |
|
probably benign |
Het |
| Limd2 |
T |
C |
11: 106,050,031 (GRCm39) |
E15G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,750,295 (GRCm39) |
C696S |
possibly damaging |
Het |
| Naa16 |
A |
G |
14: 79,593,169 (GRCm39) |
F468L |
probably damaging |
Het |
| Ndufaf1 |
A |
G |
2: 119,490,950 (GRCm39) |
S37P |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,790 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,819 (GRCm39) |
T228A |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,453,352 (GRCm39) |
F265L |
probably benign |
Het |
| Selenos |
A |
G |
7: 65,736,942 (GRCm39) |
E137G |
probably benign |
Het |
| Tars1 |
T |
C |
15: 11,388,307 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
G |
5: 120,698,390 (GRCm39) |
I44T |
probably benign |
Het |
| Usp26 |
A |
G |
X: 50,846,182 (GRCm39) |
V31A |
probably benign |
Het |
|
| Other mutations in Fabp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Fabp12
|
APN |
3 |
10,315,273 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01774:Fabp12
|
APN |
3 |
10,312,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01822:Fabp12
|
APN |
3 |
10,311,082 (GRCm39) |
nonsense |
probably null |
|
|
IGL02047:Fabp12
|
APN |
3 |
10,312,778 (GRCm39) |
splice site |
probably benign |
|
|
IGL02164:Fabp12
|
APN |
3 |
10,311,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03108:Fabp12
|
APN |
3 |
10,315,114 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0501:Fabp12
|
UTSW |
3 |
10,315,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0647:Fabp12
|
UTSW |
3 |
10,311,096 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1134:Fabp12
|
UTSW |
3 |
10,312,731 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2020:Fabp12
|
UTSW |
3 |
10,315,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5269:Fabp12
|
UTSW |
3 |
10,315,167 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7434:Fabp12
|
UTSW |
3 |
10,312,738 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9022:Fabp12
|
UTSW |
3 |
10,317,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation