Incidental Mutation 'R6692:Aldh1b1'
| ID |
527906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh1b1
|
| Ensembl Gene |
ENSMUSG00000035561 |
| Gene Name |
aldehyde dehydrogenase 1 family, member B1 |
| Synonyms |
2700007F14Rik |
| MMRRC Submission |
044810-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6692 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45799022-45804604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45803427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 322
(C322R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041260
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044384]
[ENSMUST00000172750]
|
| AlphaFold |
Q9CZS1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044384
AA Change: C322R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041260
Gene: ENSMUSG00000035561
AA Change: C322R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
47 |
510 |
1.5e-185 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172750
|
| SMART Domains |
Protein: ENSMUSP00000134082
Gene: ENSMUSG00000035561
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
47 |
132 |
1.4e-23 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased fasting circulating glucose levels and decreased blood acetaldehyde clearance. Mice homozygous for a different knock-out allele display defects in beta cell development and functionality, and develop glucose intolerance, age-dependent hyperglycemia, and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl1 |
C |
T |
3: 107,582,401 (GRCm39) |
G54D |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,363,377 (GRCm39) |
I258V |
probably damaging |
Het |
| Cenph |
T |
C |
13: 100,909,243 (GRCm39) |
I55V |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,405,006 (GRCm39) |
|
probably null |
Het |
| Ces2b |
A |
G |
8: 105,563,919 (GRCm39) |
Y431C |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Cyp4f40 |
C |
G |
17: 32,894,716 (GRCm39) |
T427S |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,119,490 (GRCm39) |
I137T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| G3bp1 |
T |
A |
11: 55,384,335 (GRCm39) |
D168E |
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,072,696 (GRCm39) |
L376H |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,361 (GRCm39) |
M499K |
probably benign |
Het |
| Lonp1 |
C |
T |
17: 56,926,230 (GRCm39) |
V426M |
probably damaging |
Het |
| Lypla2 |
C |
A |
4: 135,698,173 (GRCm39) |
A26S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,723,987 (GRCm39) |
V323A |
possibly damaging |
Het |
| Mdfic2 |
T |
G |
6: 98,225,169 (GRCm39) |
H38P |
possibly damaging |
Het |
| Mov10 |
A |
G |
3: 104,725,360 (GRCm39) |
L83P |
probably damaging |
Het |
| Mphosph9 |
G |
T |
5: 124,398,179 (GRCm39) |
A1039D |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or10ag55-ps1 |
A |
G |
2: 87,139,336 (GRCm39) |
T68A |
possibly damaging |
Het |
| Pde3a |
T |
A |
6: 141,425,072 (GRCm39) |
S623T |
probably damaging |
Het |
| Pld1 |
T |
A |
3: 28,095,348 (GRCm39) |
M227K |
probably benign |
Het |
| Rell1 |
T |
G |
5: 64,095,210 (GRCm39) |
K85N |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,165,652 (GRCm39) |
T93A |
probably damaging |
Het |
| Sccpdh |
T |
A |
1: 179,511,792 (GRCm39) |
M88K |
possibly damaging |
Het |
| Siae |
T |
G |
9: 37,554,095 (GRCm39) |
|
probably null |
Het |
| Slc22a16 |
G |
A |
10: 40,479,901 (GRCm39) |
E637K |
unknown |
Het |
| Stk19 |
C |
T |
17: 35,043,770 (GRCm39) |
G95S |
probably benign |
Het |
| Stpg2 |
G |
A |
3: 139,228,738 (GRCm39) |
|
probably null |
Het |
| Sult2a5 |
T |
A |
7: 13,358,057 (GRCm39) |
F30I |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,082,853 (GRCm39) |
E748G |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,869,126 (GRCm39) |
H306Q |
probably benign |
Het |
| Try10 |
G |
A |
6: 41,334,755 (GRCm39) |
G227D |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,726,713 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,749,436 (GRCm39) |
H3871L |
probably benign |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,745 (GRCm39) |
I57V |
possibly damaging |
Het |
| Vpreb1a |
A |
G |
16: 16,686,666 (GRCm39) |
S75P |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,157,894 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Aldh1b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01731:Aldh1b1
|
APN |
4 |
45,803,472 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0557:Aldh1b1
|
UTSW |
4 |
45,802,647 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1203:Aldh1b1
|
UTSW |
4 |
45,803,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Aldh1b1
|
UTSW |
4 |
45,802,873 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1939:Aldh1b1
|
UTSW |
4 |
45,802,755 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4722:Aldh1b1
|
UTSW |
4 |
45,803,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Aldh1b1
|
UTSW |
4 |
45,802,625 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4871:Aldh1b1
|
UTSW |
4 |
45,803,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4931:Aldh1b1
|
UTSW |
4 |
45,803,661 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4994:Aldh1b1
|
UTSW |
4 |
45,803,128 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5071:Aldh1b1
|
UTSW |
4 |
45,803,383 (GRCm39) |
splice site |
probably null |
|
|
R5216:Aldh1b1
|
UTSW |
4 |
45,803,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Aldh1b1
|
UTSW |
4 |
45,802,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6077:Aldh1b1
|
UTSW |
4 |
45,802,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6640:Aldh1b1
|
UTSW |
4 |
45,803,868 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7055:Aldh1b1
|
UTSW |
4 |
45,802,909 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7935:Aldh1b1
|
UTSW |
4 |
45,802,968 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7949:Aldh1b1
|
UTSW |
4 |
45,802,807 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7976:Aldh1b1
|
UTSW |
4 |
45,803,092 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8441:Aldh1b1
|
UTSW |
4 |
45,802,465 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8515:Aldh1b1
|
UTSW |
4 |
45,803,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Aldh1b1
|
UTSW |
4 |
45,802,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Aldh1b1
|
UTSW |
4 |
45,803,413 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9303:Aldh1b1
|
UTSW |
4 |
45,803,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9305:Aldh1b1
|
UTSW |
4 |
45,803,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9504:Aldh1b1
|
UTSW |
4 |
45,802,905 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1088:Aldh1b1
|
UTSW |
4 |
45,802,540 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1088:Aldh1b1
|
UTSW |
4 |
45,802,539 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Aldh1b1
|
UTSW |
4 |
45,802,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGATGTGGATAAAGTCGC -3'
(R):5'- AGAGAAGCTTTGCCCCTTCC -3'
Sequencing Primer
(F):5'- TGGATAAAGTCGCCTTCACG -3'
(R):5'- CTTCTGTCCCAGCCGGATGTAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation