Incidental Mutation 'IGL00693:Aldh1a7'
ID |
8759 |
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 # |
IGL00693
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
20670318-20704920 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 20677410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 404
(P404S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025656]
|
AlphaFold |
O35945 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025656
AA Change: P404S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025656 Gene: ENSMUSG00000024747 AA Change: P404S
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bltp1 |
A |
G |
3: 37,106,696 (GRCm39) |
|
probably benign |
Het |
Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
Col4a3 |
T |
C |
1: 82,675,475 (GRCm39) |
Y1176H |
unknown |
Het |
Dyrk3 |
T |
C |
1: 131,064,074 (GRCm39) |
I3V |
possibly damaging |
Het |
Gpsm3 |
A |
G |
17: 34,810,247 (GRCm39) |
E149G |
probably damaging |
Het |
Hsd3b6 |
A |
C |
3: 98,713,594 (GRCm39) |
L235R |
probably damaging |
Het |
Ipo11 |
A |
T |
13: 107,033,768 (GRCm39) |
F238Y |
probably damaging |
Het |
Kcnh7 |
C |
T |
2: 62,564,598 (GRCm39) |
R887K |
probably benign |
Het |
Lrrc8a |
T |
C |
2: 30,145,327 (GRCm39) |
V47A |
probably benign |
Het |
Lsm14b |
A |
G |
2: 179,674,419 (GRCm39) |
N241D |
probably damaging |
Het |
Mtss1 |
T |
A |
15: 58,815,973 (GRCm39) |
D529V |
probably damaging |
Het |
Nup58 |
A |
T |
14: 60,475,969 (GRCm39) |
S283T |
probably benign |
Het |
Odad2 |
C |
T |
18: 7,211,504 (GRCm39) |
G790D |
probably damaging |
Het |
Pno1 |
A |
G |
11: 17,161,317 (GRCm39) |
L64P |
probably benign |
Het |
Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
Proc |
A |
G |
18: 32,256,566 (GRCm39) |
V367A |
probably benign |
Het |
Sez6l |
A |
T |
5: 112,569,879 (GRCm39) |
I964N |
probably damaging |
Het |
Speer2 |
A |
T |
16: 69,657,406 (GRCm39) |
M79K |
probably benign |
Het |
Tef |
T |
C |
15: 81,699,384 (GRCm39) |
S131P |
probably benign |
Het |
Ubr2 |
T |
C |
17: 47,283,907 (GRCm39) |
T581A |
probably benign |
Het |
Unc13c |
A |
T |
9: 73,665,884 (GRCm39) |
D1045E |
probably benign |
Het |
Vsig8 |
T |
C |
1: 172,389,156 (GRCm39) |
V136A |
probably damaging |
Het |
Wee1 |
A |
T |
7: 109,734,060 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Aldh1a7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |