Incidental Mutation 'R2300:Aldh6a1'
| ID |
245308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh6a1
|
| Ensembl Gene |
ENSMUSG00000021238 |
| Gene Name |
aldehyde dehydrogenase family 6, subfamily A1 |
| Synonyms |
Mmsdh, 1110038I05Rik |
| MMRRC Submission |
040299-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R2300 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84477491-84497778 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 84486303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 205
(T205N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082288
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085192]
[ENSMUST00000220491]
|
| AlphaFold |
Q9EQ20 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085192
AA Change: T205N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: T205N
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221969
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222641
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222656
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,656,746 (GRCm39) |
E355* |
probably null |
Het |
| Arhgap24 |
A |
G |
5: 103,008,291 (GRCm39) |
I71V |
probably damaging |
Het |
| Arid2 |
A |
T |
15: 96,299,887 (GRCm39) |
E1800V |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,572 (GRCm39) |
T154A |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,855,241 (GRCm39) |
A2157T |
probably benign |
Het |
| Clca4b |
A |
T |
3: 144,622,432 (GRCm39) |
N544K |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,017,525 (GRCm39) |
E444G |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,152,449 (GRCm39) |
K130E |
probably benign |
Het |
| H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,938,235 (GRCm39) |
Y255C |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,987 (GRCm39) |
T825A |
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,963,316 (GRCm39) |
M1296K |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,392,784 (GRCm39) |
C2760* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
CAG |
CAGAAG |
19: 46,069,798 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
CAG |
CAGTAG |
19: 46,069,807 (GRCm39) |
|
probably benign |
Het |
| Nop16 |
A |
G |
13: 54,733,679 (GRCm39) |
|
probably null |
Het |
| Or2n1 |
T |
A |
17: 38,486,441 (GRCm39) |
Y155* |
probably null |
Het |
| Or5ak22 |
T |
C |
2: 85,230,476 (GRCm39) |
I134V |
probably benign |
Het |
| Ostf1 |
T |
C |
19: 18,558,644 (GRCm39) |
D213G |
probably damaging |
Het |
| Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
| St18 |
A |
G |
1: 6,925,626 (GRCm39) |
D928G |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,594,553 (GRCm39) |
V31A |
possibly damaging |
Het |
| Tcl1b1 |
G |
A |
12: 105,130,783 (GRCm39) |
A89T |
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,712,904 (GRCm39) |
S464C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,737,792 (GRCm39) |
F4249S |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,198,260 (GRCm39) |
F1209S |
probably damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,107,093 (GRCm39) |
|
probably null |
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 |
|
R4351:Aldh6a1
|
UTSW |
12 |
84,490,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AGACATGTGACCTTCAAACGTG -3'
(R):5'- CTGTAGTGTGACATCCCTCATG -3'
Sequencing Primer
(F):5'- CCAGAGGGTATGAATTCAGTTCCC -3'
(R):5'- CTCATGCTGGGAGAGACCATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation