Incidental Mutation 'R0305:Aldh16a1'
ID |
24897 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aldh16a1
|
Ensembl Gene |
ENSMUSG00000007833 |
Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
Synonyms |
2410004H02Rik |
MMRRC Submission |
038516-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0305 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44797403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 135
(R135Q)
|
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: ENSMUST00000007977
AA Change: R135Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000007977 Gene: ENSMUSG00000007833 AA Change: R135Q
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 damaging
Transcript: ENSMUST00000107815
AA Change: R135Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103445 Gene: ENSMUSG00000007833 AA Change: R135Q
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: R135Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210539
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211169
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210725
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210352
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
Meta Mutation Damage Score |
0.2041 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 91.2%
|
Validation Efficiency |
100% (59/59) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
G |
A |
7: 27,274,061 (GRCm39) |
R183Q |
probably damaging |
Het |
Abca5 |
A |
G |
11: 110,164,137 (GRCm39) |
|
probably benign |
Het |
Ada |
T |
C |
2: 163,570,077 (GRCm39) |
K312R |
probably benign |
Het |
Adam21 |
C |
A |
12: 81,607,059 (GRCm39) |
K234N |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,108,776 (GRCm39) |
|
probably null |
Het |
Aimp1 |
T |
G |
3: 132,379,747 (GRCm39) |
K132Q |
possibly damaging |
Het |
Alox12b |
A |
T |
11: 69,058,205 (GRCm39) |
Y519F |
probably benign |
Het |
Alppl2 |
T |
C |
1: 87,017,324 (GRCm39) |
E25G |
probably benign |
Het |
Apob |
A |
T |
12: 8,062,210 (GRCm39) |
N3531I |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,391,935 (GRCm39) |
L321P |
probably damaging |
Het |
Cab39l |
C |
T |
14: 59,757,028 (GRCm39) |
Q137* |
probably null |
Het |
Cenpo |
A |
T |
12: 4,266,660 (GRCm39) |
H149Q |
possibly damaging |
Het |
Cpt1a |
A |
G |
19: 3,428,455 (GRCm39) |
T610A |
probably benign |
Het |
Dcbld2 |
A |
G |
16: 58,269,302 (GRCm39) |
T271A |
probably damaging |
Het |
Dcps |
A |
G |
9: 35,087,065 (GRCm39) |
|
probably null |
Het |
Dnai2 |
A |
G |
11: 114,643,720 (GRCm39) |
D462G |
probably benign |
Het |
Dsg2 |
T |
A |
18: 20,715,752 (GRCm39) |
|
probably benign |
Het |
Eomes |
A |
T |
9: 118,313,825 (GRCm39) |
E623D |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,744,747 (GRCm39) |
H594L |
probably benign |
Het |
Gad1-ps |
T |
G |
10: 99,280,665 (GRCm39) |
|
noncoding transcript |
Het |
Galk2 |
A |
G |
2: 125,729,808 (GRCm39) |
Y63C |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,430,260 (GRCm39) |
L227P |
probably damaging |
Het |
Itgb4 |
T |
G |
11: 115,870,238 (GRCm39) |
C73G |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,212,601 (GRCm39) |
H1472R |
possibly damaging |
Het |
Kcnh5 |
C |
T |
12: 75,161,171 (GRCm39) |
A246T |
probably benign |
Het |
Kpna6 |
G |
T |
4: 129,543,042 (GRCm39) |
R458S |
probably benign |
Het |
Lifr |
A |
G |
15: 7,206,982 (GRCm39) |
T498A |
probably damaging |
Het |
Lrrd1 |
T |
G |
5: 3,915,707 (GRCm39) |
I768S |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,452,253 (GRCm39) |
V223A |
probably benign |
Het |
Nod2 |
G |
A |
8: 89,391,951 (GRCm39) |
A731T |
probably damaging |
Het |
Nrxn2 |
G |
A |
19: 6,569,313 (GRCm39) |
C1403Y |
probably damaging |
Het |
Nxph1 |
A |
T |
6: 9,247,754 (GRCm39) |
I242F |
probably damaging |
Het |
Or5p79 |
G |
A |
7: 108,221,792 (GRCm39) |
V258I |
probably benign |
Het |
Pgr |
A |
G |
9: 8,902,088 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
A |
G |
9: 98,946,129 (GRCm39) |
S566P |
possibly damaging |
Het |
Sema4d |
T |
C |
13: 51,866,764 (GRCm39) |
Y242C |
probably damaging |
Het |
Sftpc |
T |
A |
14: 70,761,518 (GRCm39) |
|
probably benign |
Het |
Sh3tc1 |
T |
G |
5: 35,881,343 (GRCm39) |
E33D |
probably benign |
Het |
Slc17a5 |
A |
G |
9: 78,464,819 (GRCm39) |
L344P |
probably benign |
Het |
Slc39a5 |
T |
A |
10: 128,234,265 (GRCm39) |
|
probably benign |
Het |
Slc7a13 |
C |
A |
4: 19,839,401 (GRCm39) |
H335N |
probably benign |
Het |
Slco1a4 |
A |
C |
6: 141,763,479 (GRCm39) |
N412K |
possibly damaging |
Het |
Sox1 |
A |
T |
8: 12,446,736 (GRCm39) |
T126S |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,081,663 (GRCm39) |
V353E |
probably damaging |
Het |
Stat5b |
T |
C |
11: 100,693,329 (GRCm39) |
E104G |
probably benign |
Het |
Sult4a1 |
A |
G |
15: 83,970,868 (GRCm39) |
V179A |
probably damaging |
Het |
Tafa5 |
T |
A |
15: 87,604,709 (GRCm39) |
I83N |
probably damaging |
Het |
Tbl3 |
G |
A |
17: 24,924,435 (GRCm39) |
R134C |
probably damaging |
Het |
Tmem256 |
T |
A |
11: 69,729,737 (GRCm39) |
|
probably benign |
Het |
Tmigd1 |
A |
G |
11: 76,797,960 (GRCm39) |
T101A |
probably damaging |
Het |
Unc5b |
C |
A |
10: 60,615,437 (GRCm39) |
|
probably benign |
Het |
Unc79 |
T |
A |
12: 103,079,459 (GRCm39) |
S1679T |
probably benign |
Het |
Vmn2r1 |
T |
G |
3: 63,997,087 (GRCm39) |
C248G |
probably damaging |
Het |
Vmn2r57 |
T |
C |
7: 41,076,967 (GRCm39) |
I400V |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,246,713 (GRCm39) |
L685H |
probably damaging |
Het |
Yeats4 |
A |
G |
10: 117,051,741 (GRCm39) |
F172S |
probably damaging |
Het |
Zfpm2 |
T |
G |
15: 40,637,431 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCATAATGAGCGCATGGACGG -3'
(R):5'- GGTAATCAGTGACCAGGAGCATCG -3'
Sequencing Primer
(F):5'- CATGGACGGGTTGGTTTTC -3'
(R):5'- ACAGAGTCTGACACTCTCTTGTAG -3'
|
Posted On |
2013-04-16 |