Incidental Mutation 'IGL01449:Aldh16a1'
| ID |
84563 |
| 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 # |
IGL01449
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44791391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 105
(A105S)
|
| 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: ENSMUST00000007977
AA Change: A795S
PolyPhen 2
Score 0.020 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: A795S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
48 |
488 |
1.1e-84 |
PFAM |
|
Pfam:Aldedh
|
537 |
774 |
4.7e-31 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000209963
AA Change: A795S
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210725
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211169
AA Change: A105S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
T |
8: 73,198,693 (GRCm39) |
L33F |
probably benign |
Het |
| Actr8 |
T |
C |
14: 29,712,927 (GRCm39) |
|
probably null |
Het |
| Angpt2 |
T |
C |
8: 18,760,641 (GRCm39) |
T154A |
probably benign |
Het |
| BC051665 |
A |
G |
13: 60,930,518 (GRCm39) |
V278A |
probably damaging |
Het |
| Cap1 |
T |
C |
4: 122,753,980 (GRCm39) |
T458A |
probably damaging |
Het |
| Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,632,978 (GRCm39) |
D408G |
probably benign |
Het |
| Fam217b |
T |
A |
2: 178,062,943 (GRCm39) |
S302R |
probably damaging |
Het |
| Fcho2 |
A |
T |
13: 98,926,315 (GRCm39) |
D89E |
probably benign |
Het |
| Fnip1 |
C |
T |
11: 54,390,334 (GRCm39) |
R434C |
probably damaging |
Het |
| Gga3 |
G |
A |
11: 115,479,928 (GRCm39) |
T261M |
probably damaging |
Het |
| Gm21985 |
T |
C |
2: 112,169,741 (GRCm39) |
F292L |
probably damaging |
Het |
| Gm43638 |
A |
T |
5: 87,634,074 (GRCm39) |
S178T |
possibly damaging |
Het |
| Igkv10-95 |
G |
A |
6: 68,657,748 (GRCm39) |
G68E |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,469,857 (GRCm39) |
V1442D |
probably damaging |
Het |
| Lpcat2 |
G |
A |
8: 93,597,775 (GRCm39) |
R180Q |
possibly damaging |
Het |
| Muc6 |
C |
T |
7: 141,218,527 (GRCm39) |
A1984T |
possibly damaging |
Het |
| Npy4r |
T |
A |
14: 33,868,322 (GRCm39) |
Y322F |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,962,937 (GRCm39) |
H840Q |
probably damaging |
Het |
| Or7g26 |
G |
A |
9: 19,230,529 (GRCm39) |
G233D |
probably damaging |
Het |
| Osbpl2 |
G |
T |
2: 179,786,987 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
A |
5: 14,728,530 (GRCm39) |
|
probably benign |
Het |
| Pold4 |
T |
C |
19: 4,282,921 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16a |
A |
G |
15: 76,578,494 (GRCm39) |
|
probably benign |
Het |
| Pprc1 |
C |
T |
19: 46,053,671 (GRCm39) |
|
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,368,135 (GRCm39) |
D343G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,317,007 (GRCm39) |
S852R |
probably benign |
Het |
| Slc31a2 |
C |
T |
4: 62,210,933 (GRCm39) |
T22I |
probably damaging |
Het |
| Sox30 |
T |
A |
11: 45,872,169 (GRCm39) |
D341E |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,442,704 (GRCm39) |
S339P |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,558,673 (GRCm39) |
Y78N |
probably damaging |
Het |
| Ttc1 |
T |
A |
11: 43,629,630 (GRCm39) |
S179C |
probably damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,129 (GRCm39) |
S142T |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,140,047 (GRCm39) |
A1210E |
probably damaging |
Het |
| Uroc1 |
C |
A |
6: 90,315,635 (GRCm39) |
P172Q |
probably damaging |
Het |
| Usp12 |
T |
C |
5: 146,691,250 (GRCm39) |
D168G |
probably benign |
Het |
| Vmn1r32 |
T |
A |
6: 66,529,916 (GRCm39) |
M287L |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,420,428 (GRCm39) |
Q1710* |
probably null |
Het |
| Wdfy4 |
T |
A |
14: 32,825,994 (GRCm39) |
Q1219L |
probably damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,190,616 (GRCm39) |
T145A |
probably benign |
Het |
| Zfp697 |
T |
C |
3: 98,334,846 (GRCm39) |
C204R |
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 |
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation