Incidental Mutation 'IGL03348:Aldh16a1'
| ID |
419583 |
| 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 # |
IGL03348
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44791399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 102
(R102Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148006
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107815]
[ENSMUST00000209963]
[ENSMUST00000211169]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107815
|
| SMART Domains |
Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
| 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 |
probably benign
Transcript: ENSMUST00000209963
AA Change: R792Q
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210725
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211169
AA Change: R102Q
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330008L17Rik |
A |
C |
8: 100,148,324 (GRCm39) |
|
noncoding transcript |
Het |
| Actmap |
T |
G |
7: 26,896,545 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,647,177 (GRCm39) |
N3121S |
possibly damaging |
Het |
| Atp9b |
A |
T |
18: 80,879,637 (GRCm39) |
I346K |
possibly damaging |
Het |
| Baiap2l1 |
T |
C |
5: 144,215,341 (GRCm39) |
K388R |
probably benign |
Het |
| Cfap65 |
A |
C |
1: 74,966,778 (GRCm39) |
I303S |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,461,142 (GRCm39) |
P1244L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,600,712 (GRCm39) |
S791P |
possibly damaging |
Het |
| Ctsz |
T |
A |
2: 174,270,490 (GRCm39) |
I231F |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,965,960 (GRCm39) |
T2431A |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 102,001,466 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
T |
C |
1: 77,483,809 (GRCm39) |
I67V |
possibly damaging |
Het |
| Exoc1 |
T |
A |
5: 76,683,440 (GRCm39) |
V55D |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,640,143 (GRCm39) |
D72E |
possibly damaging |
Het |
| F5 |
C |
T |
1: 164,021,721 (GRCm39) |
P1399S |
possibly damaging |
Het |
| Fmo1 |
T |
A |
1: 162,677,720 (GRCm39) |
N132I |
possibly damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,479 (GRCm39) |
H739L |
unknown |
Het |
| Glb1l2 |
T |
C |
9: 26,676,976 (GRCm39) |
D415G |
probably benign |
Het |
| Gphn |
T |
A |
12: 78,673,893 (GRCm39) |
H498Q |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,787,153 (GRCm39) |
N342S |
probably benign |
Het |
| Mbnl3 |
G |
A |
X: 50,253,425 (GRCm39) |
T16I |
probably damaging |
Het |
| Mrps5 |
T |
G |
2: 127,443,305 (GRCm39) |
H294Q |
probably damaging |
Het |
| Neu4 |
A |
G |
1: 93,952,696 (GRCm39) |
Y355C |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,941,188 (GRCm39) |
D5105E |
probably damaging |
Het |
| Or4ac1-ps1 |
T |
C |
2: 88,370,485 (GRCm39) |
|
noncoding transcript |
Het |
| Or4f56 |
C |
A |
2: 111,703,493 (GRCm39) |
A236S |
probably damaging |
Het |
| Or4k15b |
A |
G |
14: 50,272,212 (GRCm39) |
I216T |
probably benign |
Het |
| Or5p73 |
A |
G |
7: 108,064,615 (GRCm39) |
D28G |
probably benign |
Het |
| Parp1 |
T |
A |
1: 180,405,272 (GRCm39) |
|
probably benign |
Het |
| Plac1 |
A |
T |
X: 52,159,517 (GRCm39) |
N64K |
probably damaging |
Het |
| Plcd1 |
C |
A |
9: 118,901,558 (GRCm39) |
K655N |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,826,796 (GRCm39) |
S1772P |
probably damaging |
Het |
| Shcbp1 |
C |
T |
8: 4,815,089 (GRCm39) |
V130I |
probably benign |
Het |
| Slc25a11 |
T |
C |
11: 70,536,170 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,113,635 (GRCm39) |
G1004E |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,647,580 (GRCm39) |
|
probably null |
Het |
| Tbc1d12 |
C |
T |
19: 38,905,064 (GRCm39) |
T593I |
probably damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,815,100 (GRCm39) |
E526D |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,414,942 (GRCm39) |
V215M |
possibly damaging |
Het |
| Trappc8 |
T |
C |
18: 20,985,838 (GRCm39) |
D601G |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,281,313 (GRCm39) |
N971K |
probably damaging |
Het |
| Ube2g2 |
A |
T |
10: 77,466,711 (GRCm39) |
E36D |
probably benign |
Het |
| Uggt2 |
T |
A |
14: 119,308,300 (GRCm39) |
R360S |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,594,179 (GRCm39) |
V2182A |
probably benign |
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 |
|
IGL02118:Aldh16a1
|
APN |
7 |
44,795,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation