Incidental Mutation 'IGL02118:Aldh16a1'
| ID |
280486 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
2410004H02Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02118
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44795459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 400
(P400L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107815]
[ENSMUST00000209957]
[ENSMUST00000209963]
[ENSMUST00000210125]
[ENSMUST00000211169]
[ENSMUST00000211362]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107815
AA Change: P400L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: P400L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
48 |
488 |
3.8e-87 |
PFAM |
|
Pfam:Aldedh
|
536 |
753 |
2.7e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209963
AA Change: P400L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the aldehyde dehydrogenase superfamily. The family members act on aldehyde substrates and use nicotinamide adenine dinucleotide phosphate (NADP) as a cofactor. This gene is conserved in chimpanzee, dog, cow, mouse, rat, and zebrafish. The protein encoded by this gene interacts with maspardin, a protein that when truncated is responsible for Mast syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,758,865 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Actn2 |
A |
G |
13: 12,291,433 (GRCm39) |
|
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,704,728 (GRCm39) |
|
probably null |
Het |
| Aldob |
T |
A |
4: 49,538,790 (GRCm39) |
K243* |
probably null |
Het |
| Arfgap1 |
T |
C |
2: 180,622,237 (GRCm39) |
F274S |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cask |
T |
C |
X: 13,425,634 (GRCm39) |
I471V |
probably damaging |
Het |
| Cdc42ep4 |
C |
T |
11: 113,619,942 (GRCm39) |
G150S |
probably benign |
Het |
| Cpne1 |
T |
G |
2: 155,919,563 (GRCm39) |
D278A |
possibly damaging |
Het |
| Gcn1 |
A |
G |
5: 115,748,938 (GRCm39) |
E1856G |
probably damaging |
Het |
| Gm8362 |
A |
T |
14: 18,149,595 (GRCm39) |
V159E |
probably damaging |
Het |
| Golga5 |
A |
G |
12: 102,462,011 (GRCm39) |
I700V |
possibly damaging |
Het |
| Ifi206 |
T |
C |
1: 173,309,334 (GRCm39) |
T221A |
probably benign |
Het |
| Ighv2-6-8 |
T |
C |
12: 113,760,037 (GRCm39) |
K24R |
possibly damaging |
Het |
| Morc1 |
T |
C |
16: 48,407,467 (GRCm39) |
L661P |
probably benign |
Het |
| Per2 |
G |
A |
1: 91,352,031 (GRCm39) |
T825I |
probably damaging |
Het |
| Plscr1l1 |
A |
T |
9: 92,233,011 (GRCm39) |
K45* |
probably null |
Het |
| Pramel20 |
A |
T |
4: 143,297,726 (GRCm39) |
T49S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,963 (GRCm39) |
V19A |
probably damaging |
Het |
| Psmb8 |
T |
A |
17: 34,420,198 (GRCm39) |
D263E |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,779,117 (GRCm39) |
I563T |
probably benign |
Het |
| Retreg1 |
T |
G |
15: 25,966,709 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
A |
G |
9: 72,524,486 (GRCm39) |
T559A |
probably benign |
Het |
| Rnf31 |
T |
G |
14: 55,836,569 (GRCm39) |
I801S |
probably damaging |
Het |
| Rom1 |
G |
T |
19: 8,906,386 (GRCm39) |
T51N |
possibly damaging |
Het |
| Sema6b |
G |
T |
17: 56,439,821 (GRCm39) |
P7T |
probably benign |
Het |
| Stpg1 |
A |
G |
4: 135,235,375 (GRCm39) |
|
probably benign |
Het |
| Sugct |
A |
T |
13: 17,627,105 (GRCm39) |
Y249* |
probably null |
Het |
| Tbc1d21 |
C |
T |
9: 58,267,746 (GRCm39) |
V317M |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,327,628 (GRCm39) |
I125V |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,216,186 (GRCm39) |
D19V |
probably damaging |
Het |
| Tti2 |
T |
A |
8: 31,645,537 (GRCm39) |
|
probably null |
Het |
| Usp32 |
A |
T |
11: 84,923,003 (GRCm39) |
Y142* |
probably null |
Het |
| Vill |
A |
G |
9: 118,889,466 (GRCm39) |
Y134C |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,835,879 (GRCm39) |
D14G |
probably damaging |
Het |
| Zfp598 |
T |
C |
17: 24,896,591 (GRCm39) |
Y223H |
probably damaging |
Het |
| Znhit6 |
G |
T |
3: 145,283,859 (GRCm39) |
C43F |
probably damaging |
Het |
|
| Other mutations in Aldh16a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Aldh16a1
|
APN |
7 |
44,794,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01449:Aldh16a1
|
APN |
7 |
44,791,391 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01599:Aldh16a1
|
APN |
7 |
44,791,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02120:Aldh16a1
|
APN |
7 |
44,795,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Aldh16a1
|
APN |
7 |
44,795,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Aldh16a1
|
APN |
7 |
44,795,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02126:Aldh16a1
|
APN |
7 |
44,795,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02794:Aldh16a1
|
APN |
7 |
44,795,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03348:Aldh16a1
|
APN |
7 |
44,791,399 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
G1Funyon:Aldh16a1
|
UTSW |
7 |
44,791,406 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0242:Aldh16a1
|
UTSW |
7 |
44,794,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Aldh16a1
|
UTSW |
7 |
44,794,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0305:Aldh16a1
|
UTSW |
7 |
44,797,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Aldh16a1
|
UTSW |
7 |
44,792,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0550:Aldh16a1
|
UTSW |
7 |
44,795,653 (GRCm39) |
splice site |
probably null |
|
|
R0707:Aldh16a1
|
UTSW |
7 |
44,793,931 (GRCm39) |
unclassified |
probably benign |
|
|
R0801:Aldh16a1
|
UTSW |
7 |
44,796,900 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1224:Aldh16a1
|
UTSW |
7 |
44,791,471 (GRCm39) |
splice site |
probably null |
|
|
R1371:Aldh16a1
|
UTSW |
7 |
44,796,674 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1778:Aldh16a1
|
UTSW |
7 |
44,796,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2064:Aldh16a1
|
UTSW |
7 |
44,796,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4616:Aldh16a1
|
UTSW |
7 |
44,798,212 (GRCm39) |
intron |
probably benign |
|
|
R4859:Aldh16a1
|
UTSW |
7 |
44,796,731 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4928:Aldh16a1
|
UTSW |
7 |
44,791,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Aldh16a1
|
UTSW |
7 |
44,791,493 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5591:Aldh16a1
|
UTSW |
7 |
44,794,076 (GRCm39) |
missense |
probably null |
0.82 |
|
R5647:Aldh16a1
|
UTSW |
7 |
44,803,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5692:Aldh16a1
|
UTSW |
7 |
44,797,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Aldh16a1
|
UTSW |
7 |
44,803,831 (GRCm39) |
unclassified |
probably benign |
|
|
R5879:Aldh16a1
|
UTSW |
7 |
44,796,930 (GRCm39) |
nonsense |
probably null |
|
|
R5890:Aldh16a1
|
UTSW |
7 |
44,793,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6321:Aldh16a1
|
UTSW |
7 |
44,799,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Aldh16a1
|
UTSW |
7 |
44,791,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6373:Aldh16a1
|
UTSW |
7 |
44,795,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6497:Aldh16a1
|
UTSW |
7 |
44,794,361 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6566:Aldh16a1
|
UTSW |
7 |
44,792,651 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7248:Aldh16a1
|
UTSW |
7 |
44,795,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7303:Aldh16a1
|
UTSW |
7 |
44,797,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Aldh16a1
|
UTSW |
7 |
44,795,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7636:Aldh16a1
|
UTSW |
7 |
44,796,955 (GRCm39) |
missense |
unknown |
|
|
R7830:Aldh16a1
|
UTSW |
7 |
44,795,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8301:Aldh16a1
|
UTSW |
7 |
44,791,406 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8444:Aldh16a1
|
UTSW |
7 |
44,799,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8801:Aldh16a1
|
UTSW |
7 |
44,791,438 (GRCm39) |
missense |
probably benign |
|
|
R9011:Aldh16a1
|
UTSW |
7 |
44,794,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9187:Aldh16a1
|
UTSW |
7 |
44,791,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9620:Aldh16a1
|
UTSW |
7 |
44,797,413 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Aldh16a1
|
UTSW |
7 |
44,795,327 (GRCm39) |
missense |
probably null |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation