Incidental Mutation 'IGL01132:Aldh1a7'
ID |
53285 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Aldh1a7
|
Ensembl Gene |
ENSMUSG00000024747 |
Gene Name |
aldehyde dehydrogenase family 1, subfamily A7 |
Synonyms |
Aldh-pb, Ahd2-like |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
IGL01132
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
20670318-20704920 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20704404 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 30
(H30R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025656]
|
AlphaFold |
O35945 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025656
AA Change: H30R
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000025656 Gene: ENSMUSG00000024747 AA Change: H30R
Domain | Start | End | E-Value | Type |
Pfam:Aldedh
|
29 |
492 |
2.5e-185 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,495,732 (GRCm39) |
N619S |
probably benign |
Het |
Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,910,055 (GRCm39) |
S1483P |
probably damaging |
Het |
Cd209e |
T |
C |
8: 3,901,274 (GRCm39) |
T127A |
probably benign |
Het |
Clmn |
T |
A |
12: 104,740,810 (GRCm39) |
|
probably null |
Het |
Dcc |
A |
T |
18: 71,815,245 (GRCm39) |
Y376* |
probably null |
Het |
Dennd2b |
A |
G |
7: 109,169,212 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
C |
T |
9: 45,663,626 (GRCm39) |
R1950* |
probably null |
Het |
Eml2 |
A |
T |
7: 18,934,464 (GRCm39) |
S388C |
probably damaging |
Het |
Ext2 |
C |
T |
2: 93,621,418 (GRCm39) |
M370I |
probably benign |
Het |
Foxo1 |
C |
T |
3: 52,252,580 (GRCm39) |
R248W |
probably damaging |
Het |
Gan |
T |
A |
8: 117,923,183 (GRCm39) |
|
probably benign |
Het |
Klra1 |
A |
T |
6: 130,341,237 (GRCm39) |
C245* |
probably null |
Het |
Myh10 |
A |
T |
11: 68,659,094 (GRCm39) |
M491L |
possibly damaging |
Het |
Myrf |
A |
G |
19: 10,200,569 (GRCm39) |
Y343H |
probably damaging |
Het |
Oplah |
C |
T |
15: 76,185,157 (GRCm39) |
S852N |
probably benign |
Het |
Or6c75 |
T |
C |
10: 129,337,515 (GRCm39) |
V254A |
probably damaging |
Het |
Or7e168 |
G |
A |
9: 19,719,950 (GRCm39) |
S112N |
probably damaging |
Het |
Or8k37 |
A |
T |
2: 86,469,510 (GRCm39) |
C181S |
probably benign |
Het |
Prag1 |
T |
C |
8: 36,613,511 (GRCm39) |
V1021A |
probably damaging |
Het |
Rassf4 |
C |
T |
6: 116,636,568 (GRCm39) |
|
probably benign |
Het |
Sf3b3 |
T |
C |
8: 111,569,413 (GRCm39) |
I102V |
probably benign |
Het |
Slc27a4 |
T |
C |
2: 29,694,314 (GRCm39) |
I46T |
probably benign |
Het |
Slc5a12 |
T |
C |
2: 110,428,167 (GRCm39) |
V74A |
probably damaging |
Het |
Tas2r134 |
G |
T |
2: 51,517,671 (GRCm39) |
C50F |
probably damaging |
Het |
Tcte1 |
G |
T |
17: 45,850,788 (GRCm39) |
A355S |
possibly damaging |
Het |
|
Other mutations in Aldh1a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00693:Aldh1a7
|
APN |
19 |
20,677,410 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01630:Aldh1a7
|
APN |
19 |
20,673,693 (GRCm39) |
splice site |
probably benign |
|
IGL01901:Aldh1a7
|
APN |
19 |
20,695,103 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02324:Aldh1a7
|
APN |
19 |
20,704,368 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02822:Aldh1a7
|
APN |
19 |
20,679,630 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03162:Aldh1a7
|
APN |
19 |
20,685,645 (GRCm39) |
missense |
probably benign |
0.21 |
PIT4514001:Aldh1a7
|
UTSW |
19 |
20,679,604 (GRCm39) |
missense |
probably benign |
0.07 |
R0125:Aldh1a7
|
UTSW |
19 |
20,704,430 (GRCm39) |
splice site |
probably benign |
|
R0268:Aldh1a7
|
UTSW |
19 |
20,686,866 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0833:Aldh1a7
|
UTSW |
19 |
20,679,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Aldh1a7
|
UTSW |
19 |
20,704,825 (GRCm39) |
missense |
probably benign |
|
R1709:Aldh1a7
|
UTSW |
19 |
20,693,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R1772:Aldh1a7
|
UTSW |
19 |
20,693,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Aldh1a7
|
UTSW |
19 |
20,704,819 (GRCm39) |
missense |
probably benign |
|
R2570:Aldh1a7
|
UTSW |
19 |
20,677,320 (GRCm39) |
missense |
probably benign |
0.35 |
R3778:Aldh1a7
|
UTSW |
19 |
20,696,675 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3832:Aldh1a7
|
UTSW |
19 |
20,685,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R3894:Aldh1a7
|
UTSW |
19 |
20,673,762 (GRCm39) |
nonsense |
probably null |
|
R4601:Aldh1a7
|
UTSW |
19 |
20,693,343 (GRCm39) |
missense |
probably damaging |
0.98 |
R4948:Aldh1a7
|
UTSW |
19 |
20,704,374 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5562:Aldh1a7
|
UTSW |
19 |
20,679,628 (GRCm39) |
nonsense |
probably null |
|
R5606:Aldh1a7
|
UTSW |
19 |
20,699,731 (GRCm39) |
missense |
probably damaging |
1.00 |
R5641:Aldh1a7
|
UTSW |
19 |
20,693,293 (GRCm39) |
missense |
probably benign |
0.00 |
R5808:Aldh1a7
|
UTSW |
19 |
20,685,561 (GRCm39) |
missense |
possibly damaging |
0.79 |
R6646:Aldh1a7
|
UTSW |
19 |
20,677,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6759:Aldh1a7
|
UTSW |
19 |
20,677,320 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7034:Aldh1a7
|
UTSW |
19 |
20,685,542 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7036:Aldh1a7
|
UTSW |
19 |
20,685,542 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7150:Aldh1a7
|
UTSW |
19 |
20,693,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R7255:Aldh1a7
|
UTSW |
19 |
20,692,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R7875:Aldh1a7
|
UTSW |
19 |
20,693,343 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7964:Aldh1a7
|
UTSW |
19 |
20,693,406 (GRCm39) |
missense |
probably benign |
0.05 |
R7964:Aldh1a7
|
UTSW |
19 |
20,677,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R7984:Aldh1a7
|
UTSW |
19 |
20,686,764 (GRCm39) |
missense |
probably damaging |
0.98 |
R8547:Aldh1a7
|
UTSW |
19 |
20,692,067 (GRCm39) |
missense |
possibly damaging |
0.93 |
X0022:Aldh1a7
|
UTSW |
19 |
20,696,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2013-06-21 |