Incidental Mutation 'R4351:Aldh6a1'
| ID |
328517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh6a1
|
| Ensembl Gene |
ENSMUSG00000021238 |
| Gene Name |
aldehyde dehydrogenase family 6, subfamily A1 |
| Synonyms |
Mmsdh, 1110038I05Rik |
| MMRRC Submission |
041106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R4351 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84477491-84497778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84490535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 27
(Y27H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152269
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085192]
[ENSMUST00000220491]
|
| AlphaFold |
Q9EQ20 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085192
AA Change: Y27H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: Y27H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
36 |
N/A |
INTRINSIC |
|
Pfam:Aldedh
|
48 |
512 |
1.9e-139 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220491
AA Change: Y27H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222656
|
| Meta Mutation Damage Score |
0.0752 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (42/43) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded enzyme is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This enzyme catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Mutations in the human gene result in Methylmalonate Semialdehyde Dehydrogenase Deficiency, characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,912,519 (GRCm39) |
|
probably null |
Het |
| Abtb2 |
T |
A |
2: 103,513,738 (GRCm39) |
D382E |
possibly damaging |
Het |
| Adamts1 |
T |
A |
16: 85,599,234 (GRCm39) |
D122V |
probably benign |
Het |
| Adcy6 |
A |
T |
15: 98,502,041 (GRCm39) |
V191E |
probably benign |
Het |
| Adh1 |
A |
G |
3: 137,986,258 (GRCm39) |
T82A |
probably benign |
Het |
| Ak6 |
C |
T |
13: 100,792,111 (GRCm39) |
Q185* |
probably null |
Het |
| Apob |
A |
G |
12: 8,043,054 (GRCm39) |
M812V |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 15,041,145 (GRCm39) |
S748* |
probably null |
Het |
| Brd3 |
A |
T |
2: 27,347,028 (GRCm39) |
Y369N |
probably damaging |
Het |
| Cracdl |
A |
G |
1: 37,663,993 (GRCm39) |
F635S |
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,099 (GRCm39) |
|
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,881,542 (GRCm39) |
V200A |
probably benign |
Het |
| Dvl3 |
T |
C |
16: 20,344,394 (GRCm39) |
Y257H |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Evx1 |
A |
G |
6: 52,290,846 (GRCm39) |
D6G |
probably damaging |
Het |
| Garin1b |
C |
G |
6: 29,320,800 (GRCm39) |
I141M |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,827,040 (GRCm39) |
E352G |
probably benign |
Het |
| Hars2 |
A |
G |
18: 36,919,231 (GRCm39) |
E123G |
probably damaging |
Het |
| Hsd17b4 |
A |
T |
18: 50,275,701 (GRCm39) |
D115V |
probably damaging |
Het |
| Lyn |
G |
A |
4: 3,789,796 (GRCm39) |
R443H |
probably damaging |
Het |
| Mecom |
C |
A |
3: 30,020,887 (GRCm39) |
V452L |
possibly damaging |
Het |
| Nckap1l |
A |
G |
15: 103,395,246 (GRCm39) |
T909A |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,301,644 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or2v2 |
A |
G |
11: 49,004,530 (GRCm39) |
S8P |
probably damaging |
Het |
| Or8g52 |
T |
A |
9: 39,630,865 (GRCm39) |
M114K |
probably damaging |
Het |
| Prb1b |
T |
G |
6: 132,290,624 (GRCm39) |
Y25S |
unknown |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,373,794 (GRCm39) |
T269A |
probably benign |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
T |
C |
2: 119,913,680 (GRCm39) |
|
noncoding transcript |
Het |
| Sst |
A |
G |
16: 23,708,565 (GRCm39) |
S89P |
probably damaging |
Het |
| Tm2d3 |
A |
G |
7: 65,344,939 (GRCm39) |
Y49C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Wdr81 |
A |
G |
11: 75,332,638 (GRCm39) |
L1921P |
probably damaging |
Het |
|
| Other mutations in Aldh6a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01700:Aldh6a1
|
APN |
12 |
84,486,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02213:Aldh6a1
|
APN |
12 |
84,479,326 (GRCm39) |
intron |
probably benign |
|
|
IGL02489:Aldh6a1
|
APN |
12 |
84,480,746 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02806:Aldh6a1
|
APN |
12 |
84,486,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Aldh6a1
|
APN |
12 |
84,480,756 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03183:Aldh6a1
|
APN |
12 |
84,483,214 (GRCm39) |
splice site |
probably null |
|
|
PIT4378001:Aldh6a1
|
UTSW |
12 |
84,488,646 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0015:Aldh6a1
|
UTSW |
12 |
84,488,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0506:Aldh6a1
|
UTSW |
12 |
84,480,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Aldh6a1
|
UTSW |
12 |
84,486,437 (GRCm39) |
missense |
probably null |
0.01 |
|
R1468:Aldh6a1
|
UTSW |
12 |
84,488,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1468:Aldh6a1
|
UTSW |
12 |
84,488,544 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1579:Aldh6a1
|
UTSW |
12 |
84,488,622 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2300:Aldh6a1
|
UTSW |
12 |
84,486,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4447:Aldh6a1
|
UTSW |
12 |
84,486,483 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5205:Aldh6a1
|
UTSW |
12 |
84,486,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5242:Aldh6a1
|
UTSW |
12 |
84,483,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5443:Aldh6a1
|
UTSW |
12 |
84,484,745 (GRCm39) |
splice site |
probably null |
|
|
R6849:Aldh6a1
|
UTSW |
12 |
84,490,561 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7001:Aldh6a1
|
UTSW |
12 |
84,488,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7182:Aldh6a1
|
UTSW |
12 |
84,488,605 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7417:Aldh6a1
|
UTSW |
12 |
84,488,556 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7492:Aldh6a1
|
UTSW |
12 |
84,483,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Aldh6a1
|
UTSW |
12 |
84,488,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8511:Aldh6a1
|
UTSW |
12 |
84,480,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9572:Aldh6a1
|
UTSW |
12 |
84,487,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGGCTGGAGAGATGTCT -3'
(R):5'- TGCCCTCTTTTGTTATATCTGAAGAC -3'
Sequencing Primer
(F):5'- TTCCAGAGGACCCAGGTTCAATTC -3'
(R):5'- TCTGAAGACAGCTACAATGTACTCG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation