Incidental Mutation 'R4447:Aldh6a1'
| ID |
328810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh6a1
|
| Ensembl Gene |
ENSMUSG00000021238 |
| Gene Name |
aldehyde dehydrogenase family 6, subfamily A1 |
| Synonyms |
Mmsdh, 1110038I05Rik |
| MMRRC Submission |
041708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
R4447 (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 84486483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 120
(V120A)
|
| 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: V145A
PolyPhen 2
Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000082288
Gene: ENSMUSG00000021238
AA Change: V145A
| 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 |
possibly damaging
Transcript: ENSMUST00000220491
AA Change: V120A
PolyPhen 2
Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)
|
| 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 |
0.1341 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| 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 |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,460,185 (GRCm39) |
P389Q |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,726,948 (GRCm39) |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,591,923 (GRCm39) |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,447,014 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,061,998 (GRCm39) |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,412 (GRCm39) |
I90V |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,941 (GRCm39) |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,837,997 (GRCm39) |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,118,662 (GRCm39) |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,399,534 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,512,153 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
T |
A |
8: 85,957,995 (GRCm39) |
Y290* |
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,120 (GRCm39) |
V161L |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,559,434 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,693 (GRCm39) |
D197G |
probably damaging |
Het |
| Spata31d1e |
T |
C |
13: 59,890,012 (GRCm39) |
T603A |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,324,634 (GRCm39) |
T1479I |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,792,021 (GRCm39) |
R23Q |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,369 (GRCm39) |
I50V |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,159,277 (GRCm39) |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,580,819 (GRCm39) |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,895,529 (GRCm39) |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,000,367 (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 |
|
R2300:Aldh6a1
|
UTSW |
12 |
84,486,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4351:Aldh6a1
|
UTSW |
12 |
84,490,535 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCGCTCTGATGGTTTCATTAGGAAAG -3'
(R):5'- GCAATATTGGTCAGGTACTTTTGAGAC -3'
Sequencing Primer
(F):5'- GTATTTCCACAAACCATAGCCATG -3'
(R):5'- AGGACAAATCGCTGTCAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation