Incidental Mutation 'IGL03223:Aldh3b1'
| ID |
413702 |
| 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 # |
IGL03223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
3963491-3979808 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3965329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 394
(H394L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051803]
[ENSMUST00000075092]
|
| AlphaFold |
Q80VQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051803
AA Change: H394L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056276
Gene: ENSMUSG00000024885
AA Change: H394L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
2 |
428 |
7.4e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075092
|
| SMART Domains |
Protein: ENSMUSP00000074600
Gene: ENSMUSG00000059734
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fer4_10
|
108 |
163 |
2.4e-9 |
PFAM |
|
Pfam:Fer4
|
109 |
129 |
1.1e-6 |
PFAM |
|
Pfam:Fer4_4
|
110 |
126 |
2e-5 |
PFAM |
|
Pfam:Fer4_7
|
112 |
166 |
1e-13 |
PFAM |
|
Pfam:Fer4_9
|
112 |
167 |
8.8e-10 |
PFAM |
|
Pfam:Fer4
|
145 |
168 |
5.3e-10 |
PFAM |
|
Pfam:Fer4_4
|
149 |
173 |
3.1e-3 |
PFAM |
|
low complexity region
|
181 |
193 |
N/A |
INTRINSIC |
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B430306N03Rik |
G |
A |
17: 48,623,896 (GRCm39) |
V66I |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,931,877 (GRCm39) |
N175S |
probably damaging |
Het |
| Dock4 |
C |
A |
12: 40,867,593 (GRCm39) |
Q1390K |
probably damaging |
Het |
| Eea1 |
A |
C |
10: 95,875,473 (GRCm39) |
E1248A |
probably damaging |
Het |
| Farp2 |
T |
A |
1: 93,545,324 (GRCm39) |
Y827* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,134,556 (GRCm39) |
Y1510C |
probably damaging |
Het |
| Igfbp7 |
A |
C |
5: 77,497,318 (GRCm39) |
|
probably benign |
Het |
| Il1rapl1 |
A |
C |
X: 86,344,341 (GRCm39) |
C185G |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,784,680 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
| Lrrc4 |
A |
T |
6: 28,831,469 (GRCm39) |
C49S |
probably damaging |
Het |
| Lrrc49 |
T |
A |
9: 60,595,128 (GRCm39) |
K5N |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,241,068 (GRCm39) |
I815T |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,801,297 (GRCm39) |
T948A |
possibly damaging |
Het |
| Nhs |
T |
A |
X: 160,624,902 (GRCm39) |
I837F |
probably damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,645 (GRCm39) |
V218L |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,268 (GRCm39) |
V105A |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,438 (GRCm39) |
Q563L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,255,170 (GRCm39) |
M809T |
possibly damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,038,648 (GRCm39) |
I311N |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,591,322 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,813 (GRCm39) |
T431M |
probably damaging |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,653 (GRCm39) |
G189D |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,858 (GRCm39) |
Y376H |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,248 (GRCm39) |
C108R |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,216,735 (GRCm39) |
E35G |
possibly 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 |
|
IGL01784:Aldh3b1
|
APN |
19 |
3,971,217 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02608:Aldh3b1
|
APN |
19 |
3,964,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation