Incidental Mutation 'IGL02324:Aldh1a7'
ID |
288379 |
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 # |
IGL02324
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
20670318-20704920 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 20704368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 42
(N42S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025656]
|
AlphaFold |
O35945 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025656
AA Change: N42S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025656 Gene: ENSMUSG00000024747 AA Change: N42S
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
T |
A |
3: 151,203,511 (GRCm39) |
C124S |
probably damaging |
Het |
Arhgef1 |
T |
C |
7: 24,623,240 (GRCm39) |
L667P |
probably damaging |
Het |
C1qb |
C |
A |
4: 136,607,811 (GRCm39) |
R184L |
possibly damaging |
Het |
Cacna1s |
A |
G |
1: 136,002,914 (GRCm39) |
|
probably benign |
Het |
Cdk20 |
A |
G |
13: 64,585,734 (GRCm39) |
E244G |
probably benign |
Het |
Copg2 |
C |
A |
6: 30,840,469 (GRCm39) |
|
probably null |
Het |
Cyp2d40 |
A |
T |
15: 82,645,149 (GRCm39) |
|
probably benign |
Het |
Cyp2j6 |
A |
G |
4: 96,414,170 (GRCm39) |
I365T |
probably damaging |
Het |
Dhx29 |
A |
G |
13: 113,064,342 (GRCm39) |
K6E |
probably damaging |
Het |
Dpp10 |
T |
A |
1: 123,295,531 (GRCm39) |
T539S |
probably benign |
Het |
Ehbp1 |
A |
T |
11: 22,046,048 (GRCm39) |
I542K |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,493,593 (GRCm39) |
Y3913C |
probably damaging |
Het |
Flt4 |
C |
T |
11: 49,536,822 (GRCm39) |
T1264I |
probably benign |
Het |
Fmnl1 |
A |
G |
11: 103,070,364 (GRCm39) |
D51G |
probably damaging |
Het |
Gm17093 |
A |
G |
14: 44,755,807 (GRCm39) |
T25A |
unknown |
Het |
Gpatch2 |
A |
G |
1: 186,957,936 (GRCm39) |
E97G |
probably damaging |
Het |
Hcn1 |
T |
C |
13: 118,039,422 (GRCm39) |
L446P |
unknown |
Het |
Hpse2 |
A |
T |
19: 42,920,038 (GRCm39) |
L354I |
probably damaging |
Het |
Hspa4 |
A |
G |
11: 53,190,885 (GRCm39) |
|
probably null |
Het |
Krtap16-1 |
C |
T |
11: 99,877,129 (GRCm39) |
V92M |
probably damaging |
Het |
Med23 |
A |
T |
10: 24,773,239 (GRCm39) |
Q281L |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,039,873 (GRCm39) |
S963P |
probably benign |
Het |
Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,479,643 (GRCm39) |
S1217P |
probably damaging |
Het |
Myocd |
C |
A |
11: 65,069,484 (GRCm39) |
L785F |
probably benign |
Het |
Nell2 |
T |
C |
15: 95,126,982 (GRCm39) |
T798A |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,092,808 (GRCm39) |
|
probably benign |
Het |
Olfm5 |
T |
C |
7: 103,803,302 (GRCm39) |
|
probably null |
Het |
Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
P2ry1 |
A |
T |
3: 60,911,199 (GRCm39) |
N113Y |
possibly damaging |
Het |
Pan3 |
A |
G |
5: 147,466,933 (GRCm39) |
|
probably null |
Het |
Pappa |
A |
G |
4: 65,115,045 (GRCm39) |
R714G |
probably damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,710 (GRCm39) |
F579L |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
Slc27a5 |
T |
A |
7: 12,731,487 (GRCm39) |
Q168L |
probably benign |
Het |
Spag8 |
T |
C |
4: 43,651,781 (GRCm39) |
E395G |
probably damaging |
Het |
Stfa2l1 |
T |
C |
16: 35,982,138 (GRCm39) |
Y70H |
probably damaging |
Het |
Taf2 |
T |
C |
15: 54,891,772 (GRCm39) |
N1017S |
probably benign |
Het |
Tnfrsf25 |
C |
A |
4: 152,203,779 (GRCm39) |
Q296K |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,676,143 (GRCm39) |
I103N |
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 |
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 |
2015-04-16 |