Incidental Mutation 'IGL01784:Aldh3b1'
| ID |
154246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh3b1
|
| Ensembl Gene |
ENSMUSG00000024885 |
| Gene Name |
aldehyde dehydrogenase 3 family, member B1 |
| Synonyms |
1700001N19Rik, ALDH4, ALDH7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
IGL01784
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3963491-3979808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3971217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 149
(I149T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051803]
|
| AlphaFold |
Q80VQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051803
AA Change: I149T
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000056276
Gene: ENSMUSG00000024885
AA Change: I149T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
2 |
428 |
7.4e-88 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
C |
T |
11: 58,771,445 (GRCm39) |
P309L |
possibly damaging |
Het |
| Abca4 |
A |
T |
3: 121,932,154 (GRCm39) |
K269N |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,854,399 (GRCm39) |
T839A |
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,040,751 (GRCm39) |
D30G |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,630,247 (GRCm39) |
D199G |
probably damaging |
Het |
| Cplx3 |
T |
C |
9: 57,527,847 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ddo |
A |
G |
10: 40,507,784 (GRCm39) |
|
probably benign |
Het |
| Ensa |
T |
A |
3: 95,535,844 (GRCm39) |
|
probably benign |
Het |
| Etnppl |
A |
G |
3: 130,425,427 (GRCm39) |
I405V |
possibly damaging |
Het |
| Fam171b |
T |
A |
2: 83,710,031 (GRCm39) |
L568M |
possibly damaging |
Het |
| Fmn2 |
A |
G |
1: 174,329,994 (GRCm39) |
D128G |
unknown |
Het |
| Fra10ac1 |
T |
A |
19: 38,208,125 (GRCm39) |
H43L |
probably benign |
Het |
| Gm7589 |
T |
C |
9: 59,053,310 (GRCm39) |
|
noncoding transcript |
Het |
| Gsx1 |
A |
G |
5: 147,126,939 (GRCm39) |
D254G |
probably benign |
Het |
| Hoxb6 |
A |
G |
11: 96,191,639 (GRCm39) |
E187G |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,518,524 (GRCm39) |
I2385N |
probably damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
| Mccc1 |
T |
G |
3: 36,030,897 (GRCm39) |
N390H |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,403,373 (GRCm39) |
|
probably benign |
Het |
| Nfic |
T |
C |
10: 81,241,982 (GRCm39) |
D364G |
possibly damaging |
Het |
| Niban1 |
T |
A |
1: 151,525,116 (GRCm39) |
Y174N |
probably damaging |
Het |
| Npy |
A |
G |
6: 49,806,314 (GRCm39) |
|
probably benign |
Het |
| Or6c8 |
C |
T |
10: 128,915,224 (GRCm39) |
V203M |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,321,902 (GRCm39) |
S75P |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,105,589 (GRCm39) |
A685S |
probably damaging |
Het |
| Pramel51 |
A |
G |
12: 88,143,085 (GRCm39) |
Y178H |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,485,724 (GRCm39) |
T539A |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,622,632 (GRCm39) |
S537T |
possibly damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,997,089 (GRCm39) |
T597I |
possibly damaging |
Het |
| Rtn4 |
C |
A |
11: 29,657,291 (GRCm39) |
Q482K |
probably damaging |
Het |
| Sema3g |
T |
C |
14: 30,944,924 (GRCm39) |
I349T |
probably damaging |
Het |
| Sh3gl1 |
A |
C |
17: 56,326,325 (GRCm39) |
S108A |
possibly damaging |
Het |
| Tmc7 |
A |
T |
7: 118,146,538 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
G |
A |
1: 36,854,564 (GRCm39) |
T131I |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,397,800 (GRCm39) |
L505P |
probably benign |
Het |
| Wasf2 |
A |
G |
4: 132,919,439 (GRCm39) |
Q231R |
unknown |
Het |
| Wnt7a |
A |
G |
6: 91,342,839 (GRCm39) |
C348R |
probably damaging |
Het |
| Zkscan6 |
T |
A |
11: 65,705,547 (GRCm39) |
L86Q |
probably damaging |
Het |
|
| Other mutations in Aldh3b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Aldh3b1
|
APN |
19 |
3,968,104 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01402:Aldh3b1
|
APN |
19 |
3,971,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01404:Aldh3b1
|
APN |
19 |
3,971,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02608:Aldh3b1
|
APN |
19 |
3,964,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03223:Aldh3b1
|
APN |
19 |
3,965,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0320:Aldh3b1
|
UTSW |
19 |
3,968,999 (GRCm39) |
splice site |
probably benign |
|
|
R0472:Aldh3b1
|
UTSW |
19 |
3,964,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Aldh3b1
|
UTSW |
19 |
3,964,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1272:Aldh3b1
|
UTSW |
19 |
3,971,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Aldh3b1
|
UTSW |
19 |
3,971,271 (GRCm39) |
splice site |
probably benign |
|
|
R1769:Aldh3b1
|
UTSW |
19 |
3,968,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1868:Aldh3b1
|
UTSW |
19 |
3,971,271 (GRCm39) |
splice site |
probably benign |
|
|
R1911:Aldh3b1
|
UTSW |
19 |
3,971,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1912:Aldh3b1
|
UTSW |
19 |
3,971,187 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2067:Aldh3b1
|
UTSW |
19 |
3,971,755 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2913:Aldh3b1
|
UTSW |
19 |
3,971,275 (GRCm39) |
splice site |
probably benign |
|
|
R4133:Aldh3b1
|
UTSW |
19 |
3,970,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Aldh3b1
|
UTSW |
19 |
3,965,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7764:Aldh3b1
|
UTSW |
19 |
3,971,563 (GRCm39) |
nonsense |
probably null |
|
|
R8832:Aldh3b1
|
UTSW |
19 |
3,964,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Aldh3b1
|
UTSW |
19 |
3,971,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Aldh3b1
|
UTSW |
19 |
3,968,803 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9024:Aldh3b1
|
UTSW |
19 |
3,968,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Aldh3b1
|
UTSW |
19 |
3,971,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Aldh3b1
|
UTSW |
19 |
3,965,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation