Incidental Mutation 'IGL02822:Aldh1a7'
ID |
361046 |
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 # |
IGL02822
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
20670318-20704920 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20679630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 382
(V382A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025656]
|
AlphaFold |
O35945 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025656
AA Change: V382A
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000025656 Gene: ENSMUSG00000024747 AA Change: V382A
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110057P08Rik |
T |
C |
16: 88,971,683 (GRCm39) |
C2R |
unknown |
Het |
Asap2 |
T |
C |
12: 21,315,911 (GRCm39) |
V943A |
probably damaging |
Het |
Bod1l |
C |
T |
5: 41,951,688 (GRCm39) |
V2908M |
possibly damaging |
Het |
Casd1 |
C |
T |
6: 4,630,017 (GRCm39) |
T471I |
probably damaging |
Het |
Cd200l1 |
T |
C |
16: 45,262,968 (GRCm39) |
Y57C |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,638,600 (GRCm39) |
Y405H |
probably damaging |
Het |
Elp1 |
A |
G |
4: 56,774,520 (GRCm39) |
|
probably null |
Het |
Evi5l |
T |
C |
8: 4,237,248 (GRCm39) |
I117T |
probably damaging |
Het |
Fbxw5 |
A |
G |
2: 25,393,022 (GRCm39) |
N164S |
probably benign |
Het |
Fga |
A |
G |
3: 82,938,789 (GRCm39) |
E388G |
probably damaging |
Het |
Fgfr1 |
A |
G |
8: 26,047,818 (GRCm39) |
T55A |
probably benign |
Het |
Gdpd4 |
T |
C |
7: 97,621,131 (GRCm39) |
V148A |
possibly damaging |
Het |
Gsap |
T |
A |
5: 21,422,442 (GRCm39) |
V137D |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,601,379 (GRCm39) |
H117R |
possibly damaging |
Het |
Htr4 |
T |
A |
18: 62,561,255 (GRCm39) |
|
probably benign |
Het |
Ifitm1 |
T |
C |
7: 140,548,191 (GRCm39) |
V8A |
possibly damaging |
Het |
Kdelr1 |
A |
G |
7: 45,523,288 (GRCm39) |
|
probably benign |
Het |
Klra6 |
G |
T |
6: 129,993,673 (GRCm39) |
Y199* |
probably null |
Het |
Matcap1 |
T |
C |
8: 106,011,330 (GRCm39) |
Y268C |
probably damaging |
Het |
Mmp21 |
C |
T |
7: 133,277,828 (GRCm39) |
D333N |
possibly damaging |
Het |
Mocs1 |
T |
C |
17: 49,746,597 (GRCm39) |
F189S |
probably damaging |
Het |
Myo18b |
C |
T |
5: 112,923,211 (GRCm39) |
A1849T |
probably damaging |
Het |
Naca |
C |
A |
10: 127,875,214 (GRCm39) |
|
probably benign |
Het |
Nbea |
A |
T |
3: 55,926,868 (GRCm39) |
H778Q |
possibly damaging |
Het |
Nlrp4c |
C |
T |
7: 6,068,726 (GRCm39) |
P209L |
probably damaging |
Het |
Or10q1b |
A |
G |
19: 13,683,019 (GRCm39) |
D276G |
probably benign |
Het |
Or14j1 |
T |
C |
17: 38,146,534 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or4a81 |
A |
G |
2: 89,619,444 (GRCm39) |
L84P |
possibly damaging |
Het |
Osbpl9 |
A |
G |
4: 108,930,118 (GRCm39) |
S258P |
probably damaging |
Het |
Pclaf |
A |
G |
9: 65,808,875 (GRCm39) |
E108G |
possibly damaging |
Het |
Pira13 |
T |
A |
7: 3,819,917 (GRCm39) |
T549S |
possibly damaging |
Het |
Pla2r1 |
C |
A |
2: 60,285,517 (GRCm39) |
C699F |
probably damaging |
Het |
Pnkp |
A |
G |
7: 44,511,848 (GRCm39) |
Y120C |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,798,204 (GRCm39) |
|
probably benign |
Het |
Rad54l2 |
A |
G |
9: 106,587,606 (GRCm39) |
S720P |
probably damaging |
Het |
Rasa1 |
T |
C |
13: 85,400,633 (GRCm39) |
H301R |
probably damaging |
Het |
Spg11 |
C |
A |
2: 121,905,015 (GRCm39) |
W1316L |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,901,688 (GRCm39) |
|
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,463,882 (GRCm39) |
I803F |
probably benign |
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 |
IGL01132:Aldh1a7
|
APN |
19 |
20,704,404 (GRCm39) |
missense |
possibly damaging |
0.76 |
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 |
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 |
2015-12-18 |