Incidental Mutation 'R8801:Aldh16a1'
| ID |
671497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
2410004H02Rik |
| MMRRC Submission |
068611-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44791438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 779
(V779A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148069
(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 |
probably benign
Transcript: ENSMUST00000209963
AA Change: V779A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211169
AA Change: V89A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
G |
A |
6: 92,808,972 (GRCm39) |
V100I |
unknown |
Het |
| Acta2 |
G |
T |
19: 34,229,207 (GRCm39) |
Q61K |
probably damaging |
Het |
| Adamts20 |
T |
G |
15: 94,258,490 (GRCm39) |
D357A |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,009,452 (GRCm39) |
F798S |
probably benign |
Het |
| Arid1b |
C |
A |
17: 5,387,103 (GRCm39) |
P1466T |
probably benign |
Het |
| B3gnt2 |
T |
C |
11: 22,787,002 (GRCm39) |
E62G |
probably damaging |
Het |
| Bcan |
A |
C |
3: 87,904,582 (GRCm39) |
V58G |
probably damaging |
Het |
| Bhlhe41 |
T |
C |
6: 145,810,339 (GRCm39) |
Q66R |
probably damaging |
Het |
| Cdh6 |
G |
A |
15: 13,044,847 (GRCm39) |
T425I |
probably damaging |
Het |
| Ciao2b |
C |
T |
8: 105,367,599 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
G |
4: 128,457,195 (GRCm39) |
Y3554C |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 48,321,024 (GRCm39) |
H262L |
possibly damaging |
Het |
| Dgcr8 |
A |
G |
16: 18,098,500 (GRCm39) |
F334S |
probably damaging |
Het |
| Dipk1c |
T |
C |
18: 84,757,617 (GRCm39) |
S234P |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,410,022 (GRCm39) |
T497A |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,381,502 (GRCm39) |
V2749A |
possibly damaging |
Het |
| Esr1 |
A |
G |
10: 4,916,270 (GRCm39) |
N486D |
unknown |
Het |
| Fbn2 |
T |
C |
18: 58,287,021 (GRCm39) |
T213A |
probably damaging |
Het |
| Fbxo41 |
T |
A |
6: 85,461,663 (GRCm39) |
E15V |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,938,188 (GRCm39) |
A188T |
possibly damaging |
Het |
| Frk |
C |
T |
10: 34,423,402 (GRCm39) |
S160F |
possibly damaging |
Het |
| Gm4559 |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT |
7: 141,827,553 (GRCm39) |
|
probably benign |
Het |
| Gss |
T |
C |
2: 155,406,686 (GRCm39) |
Y432C |
probably damaging |
Het |
| Ifi27l2b |
A |
T |
12: 103,423,298 (GRCm39) |
F5I |
unknown |
Het |
| Insm1 |
T |
A |
2: 146,065,346 (GRCm39) |
Y387* |
probably null |
Het |
| Klf12 |
T |
G |
14: 100,260,172 (GRCm39) |
I186L |
probably benign |
Het |
| Klrg1 |
C |
T |
6: 122,248,342 (GRCm39) |
V186I |
probably benign |
Het |
| Loxl3 |
G |
T |
6: 83,025,629 (GRCm39) |
W329L |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,835,595 (GRCm39) |
V1759E |
probably benign |
Het |
| Mlph |
G |
A |
1: 90,870,609 (GRCm39) |
V507I |
probably benign |
Het |
| Mroh8 |
G |
A |
2: 157,075,086 (GRCm39) |
T470M |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,888,373 (GRCm39) |
Y175H |
possibly damaging |
Het |
| Nedd4l |
A |
G |
18: 65,288,346 (GRCm39) |
E2G |
probably damaging |
Het |
| Nrxn1 |
A |
G |
17: 91,009,393 (GRCm39) |
|
probably benign |
Het |
| Optc |
A |
G |
1: 133,832,819 (GRCm39) |
S94P |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,383,727 (GRCm39) |
V247A |
probably benign |
Het |
| Oxtr |
T |
A |
6: 112,466,873 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,758,305 (GRCm39) |
R1463G |
probably benign |
Het |
| Pramel30 |
A |
G |
4: 144,059,438 (GRCm39) |
Y383C |
probably benign |
Het |
| Psmc3ip |
T |
C |
11: 100,984,617 (GRCm39) |
N76S |
probably benign |
Het |
| Reln |
T |
A |
5: 22,155,854 (GRCm39) |
M2213L |
possibly damaging |
Het |
| Rock1 |
T |
C |
18: 10,070,260 (GRCm39) |
D1271G |
probably damaging |
Het |
| Rprd1a |
T |
G |
18: 24,641,280 (GRCm39) |
E112A |
probably benign |
Het |
| Sacm1l |
A |
T |
9: 123,411,384 (GRCm39) |
D391V |
probably damaging |
Het |
| Serpina3f |
A |
T |
12: 104,185,737 (GRCm39) |
H314L |
probably benign |
Het |
| Setd5 |
T |
A |
6: 113,127,853 (GRCm39) |
S1269T |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,308,335 (GRCm39) |
E740G |
probably damaging |
Het |
| Tcaf1 |
T |
A |
6: 42,663,742 (GRCm39) |
Q46L |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,173,618 (GRCm39) |
A21T |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
T |
2: 35,792,985 (GRCm39) |
L286H |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,822,848 (GRCm39) |
T721A |
probably benign |
Het |
| Vps41 |
T |
C |
13: 18,998,403 (GRCm39) |
S241P |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCCACTGTTCCCACATC -3'
(R):5'- AGCCTTGTCAGGTCTCTAGG -3'
Sequencing Primer
(F):5'- AATGCACAGTTAAAGTCACTCAG -3'
(R):5'- CAGGTCTCTAGGGCTTTTACAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation