Incidental Mutation 'R6373:Aldh16a1'
ID |
513627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh16a1
|
Ensembl Gene |
ENSMUSG00000007833 |
Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
Synonyms |
2410004H02Rik |
MMRRC Submission |
044523-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6373 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 44795695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 373
(V373L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148069
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107815]
[ENSMUST00000209957]
[ENSMUST00000209963]
[ENSMUST00000211169]
[ENSMUST00000210125]
[ENSMUST00000211362]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107815
AA Change: V373L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103445 Gene: ENSMUSG00000007833 AA Change: V373L
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 benign
Transcript: ENSMUST00000209963
AA Change: V373L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210725
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210539
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
95% (37/39) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
C |
8: 10,038,240 (GRCm39) |
L279P |
probably damaging |
Het |
Btn2a2 |
T |
C |
13: 23,665,999 (GRCm39) |
K278E |
probably benign |
Het |
Carns1 |
G |
T |
19: 4,216,515 (GRCm39) |
Q556K |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,958,898 (GRCm39) |
E650V |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,203,118 (GRCm39) |
S1195P |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,472,638 (GRCm39) |
H464R |
probably damaging |
Het |
Eva1a |
T |
C |
6: 82,068,847 (GRCm39) |
L58S |
probably damaging |
Het |
Fign |
A |
C |
2: 63,809,989 (GRCm39) |
M427R |
probably benign |
Het |
Gm6309 |
A |
T |
5: 146,107,085 (GRCm39) |
I87N |
probably damaging |
Het |
H2ac7 |
A |
G |
13: 23,759,027 (GRCm39) |
K128R |
probably benign |
Het |
Helz |
A |
G |
11: 107,486,010 (GRCm39) |
T140A |
probably benign |
Het |
Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,541,618 (GRCm39) |
H1227Q |
possibly damaging |
Het |
Mab21l1 |
A |
T |
3: 55,690,505 (GRCm39) |
I31F |
possibly damaging |
Het |
Mex3c |
T |
C |
18: 73,723,065 (GRCm39) |
M386T |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,022,994 (GRCm39) |
I1644F |
possibly damaging |
Het |
Nav2 |
C |
T |
7: 49,102,923 (GRCm39) |
P513S |
probably damaging |
Het |
Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
Nmt2 |
A |
G |
2: 3,325,988 (GRCm39) |
T462A |
probably benign |
Het |
Nrxn2 |
T |
C |
19: 6,559,860 (GRCm39) |
I163T |
probably damaging |
Het |
Nrxn3 |
G |
C |
12: 89,943,237 (GRCm39) |
G122R |
probably damaging |
Het |
Or1e26 |
A |
G |
11: 73,479,724 (GRCm39) |
V280A |
probably benign |
Het |
Or5d20-ps1 |
T |
C |
2: 87,932,189 (GRCm39) |
I47M |
possibly damaging |
Het |
Parg |
T |
G |
14: 31,931,454 (GRCm39) |
|
probably null |
Het |
Pcdhb7 |
T |
A |
18: 37,475,264 (GRCm39) |
C133* |
probably null |
Het |
Ppihl |
A |
G |
5: 44,070,893 (GRCm39) |
T127A |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,216,487 (GRCm39) |
Y504H |
possibly damaging |
Het |
Rpe |
T |
C |
1: 66,755,139 (GRCm39) |
F174L |
probably benign |
Het |
Rxrb |
A |
G |
17: 34,252,533 (GRCm39) |
N40S |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,486,889 (GRCm39) |
G3840W |
probably damaging |
Het |
Smurf2 |
A |
G |
11: 106,724,595 (GRCm39) |
L529P |
probably damaging |
Het |
Sntg2 |
C |
T |
12: 30,308,040 (GRCm39) |
R215H |
probably benign |
Het |
Spata20 |
A |
G |
11: 94,374,226 (GRCm39) |
V348A |
probably benign |
Het |
Spink5 |
A |
G |
18: 44,123,739 (GRCm39) |
E342G |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Syce1l |
T |
A |
8: 114,376,143 (GRCm39) |
M31K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,618,960 (GRCm39) |
V14394I |
probably damaging |
Het |
Twnk |
G |
A |
19: 44,997,820 (GRCm39) |
V450M |
probably damaging |
Het |
Vangl1 |
T |
C |
3: 102,065,764 (GRCm39) |
K407R |
probably benign |
Het |
Vmn1r19 |
T |
C |
6: 57,382,317 (GRCm39) |
I290T |
unknown |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGTTAGTCGGAGAGCAAAC -3'
(R):5'- CTGGACTTAAGTGTCTAAGGGAGG -3'
Sequencing Primer
(F):5'- AGCAAACTCTCCTGTCAATACTTTAC -3'
(R):5'- TGTCTAAGGGAGGAGGGCTC -3'
|
Posted On |
2018-04-27 |