Incidental Mutation 'IGL01822:Fabp12'
| ID |
154567 |
| 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 # |
IGL01822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
10309269-10366243 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 10311082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 127
(R127*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029043]
[ENSMUST00000117917]
[ENSMUST00000119761]
[ENSMUST00000172126]
|
| AlphaFold |
Q9DAK4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029043
AA Change: R127*
|
| SMART Domains |
Protein: ENSMUSP00000029043
Gene: ENSMUSG00000027530
AA Change: R127*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
6 |
132 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000117917
AA Change: R127*
|
| SMART Domains |
Protein: ENSMUSP00000112464
Gene: ENSMUSG00000027530
AA Change: R127*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
6 |
132 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000119761
AA Change: R127*
|
| SMART Domains |
Protein: ENSMUSP00000112958
Gene: ENSMUSG00000027530
AA Change: R127*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin
|
6 |
132 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000172126
AA Change: R127*
|
| SMART Domains |
Protein: ENSMUSP00000131101
Gene: ENSMUSG00000027530
AA Change: R127*
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cald1 |
A |
T |
6: 34,730,507 (GRCm39) |
T269S |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,362,700 (GRCm39) |
I351N |
probably damaging |
Het |
| Dhcr7 |
T |
A |
7: 143,399,236 (GRCm39) |
I296N |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,972,819 (GRCm39) |
F2038S |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,789,626 (GRCm39) |
L303P |
probably damaging |
Het |
| Fgf12 |
A |
T |
16: 28,008,351 (GRCm39) |
S150T |
possibly damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,270,741 (GRCm39) |
M32T |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,787,311 (GRCm39) |
T13I |
probably benign |
Het |
| Mmgt2 |
T |
C |
11: 62,555,832 (GRCm39) |
V60A |
possibly damaging |
Het |
| Neb |
G |
T |
2: 52,148,758 (GRCm39) |
S2596R |
possibly damaging |
Het |
| Nfkbib |
T |
C |
7: 28,461,134 (GRCm39) |
D171G |
probably benign |
Het |
| Oas1a |
T |
C |
5: 121,037,277 (GRCm39) |
E250G |
probably benign |
Het |
| Or2n1 |
C |
A |
17: 38,486,339 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4a27 |
A |
T |
2: 88,559,136 (GRCm39) |
I269N |
probably benign |
Het |
| Rnf182 |
T |
C |
13: 43,821,508 (GRCm39) |
C20R |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,325,608 (GRCm39) |
K970E |
probably damaging |
Het |
| Slc30a2 |
T |
A |
4: 134,075,948 (GRCm39) |
Y192N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,100 (GRCm39) |
C10S |
probably null |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,130 (GRCm39) |
H850L |
probably benign |
Het |
| Vmn2r87 |
T |
C |
10: 130,307,991 (GRCm39) |
Y749C |
probably damaging |
Het |
| Wnt5b |
A |
T |
6: 119,410,433 (GRCm39) |
C336S |
probably damaging |
Het |
| Zfp398 |
G |
A |
6: 47,843,205 (GRCm39) |
R287Q |
probably damaging |
Het |
|
| Other mutations in Fabp12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Fabp12
|
APN |
3 |
10,311,115 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation