Incidental Mutation 'R0707:Aldh16a1'
| ID |
218354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
2410004H02Rik |
| MMRRC Submission |
038890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0707 (G1)
|
| Quality Score |
60 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 44793931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147810
(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: ENSMUST00000007977
|
| SMART Domains |
Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
| 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 |
noncoding transcript
Transcript: ENSMUST00000209755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209957
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209963
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (74/74) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,617,329 (GRCm39) |
F259S |
probably damaging |
Het |
| Ankrd24 |
A |
T |
10: 81,478,547 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
C |
12: 52,564,951 (GRCm39) |
S641P |
probably damaging |
Het |
| Arpp21 |
A |
C |
9: 111,986,824 (GRCm39) |
S242R |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Bud31 |
A |
G |
5: 145,083,265 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ccdc65 |
G |
A |
15: 98,607,095 (GRCm39) |
V101I |
possibly damaging |
Het |
| Ccr7 |
T |
A |
11: 99,036,809 (GRCm39) |
T38S |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,087,362 (GRCm39) |
|
probably benign |
Het |
| Ces2f |
C |
T |
8: 105,677,618 (GRCm39) |
H208Y |
possibly damaging |
Het |
| Chst1 |
C |
A |
2: 92,443,964 (GRCm39) |
N145K |
possibly damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cog6 |
C |
T |
3: 52,921,283 (GRCm39) |
V108I |
possibly damaging |
Het |
| Cplane1 |
T |
A |
15: 8,287,805 (GRCm39) |
N2881K |
unknown |
Het |
| Crtc2 |
T |
A |
3: 90,170,804 (GRCm39) |
F626I |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,673,144 (GRCm39) |
F792I |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,049,781 (GRCm39) |
K1780R |
probably benign |
Het |
| Dph5 |
A |
C |
3: 115,708,782 (GRCm39) |
N155H |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,626,982 (GRCm39) |
|
probably null |
Het |
| Etl4 |
C |
A |
2: 20,810,382 (GRCm39) |
|
probably benign |
Het |
| Flt3l |
T |
C |
7: 44,785,450 (GRCm39) |
S9G |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 52,944,498 (GRCm39) |
E159G |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gatad2b |
T |
A |
3: 90,263,489 (GRCm39) |
S529T |
probably benign |
Het |
| Herc6 |
G |
A |
6: 57,639,347 (GRCm39) |
G905E |
possibly damaging |
Het |
| Hhip |
T |
A |
8: 80,724,884 (GRCm39) |
N296I |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,787,151 (GRCm39) |
|
probably benign |
Het |
| Kalrn |
T |
G |
16: 33,830,951 (GRCm39) |
N723H |
possibly damaging |
Het |
| Mroh5 |
T |
A |
15: 73,662,588 (GRCm39) |
Y242F |
possibly damaging |
Het |
| Msh3 |
T |
A |
13: 92,483,848 (GRCm39) |
K258* |
probably null |
Het |
| Myo1a |
T |
C |
10: 127,555,732 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
C |
T |
13: 65,342,317 (GRCm39) |
E443K |
probably benign |
Het |
| Nupr2 |
A |
G |
5: 129,937,533 (GRCm39) |
Y34C |
probably damaging |
Het |
| Ociad1 |
T |
C |
5: 73,452,255 (GRCm39) |
|
probably benign |
Het |
| Or1af1 |
A |
T |
2: 37,110,208 (GRCm39) |
K236* |
probably null |
Het |
| Or5af2 |
T |
A |
11: 58,708,577 (GRCm39) |
L248M |
probably damaging |
Het |
| Or5b3 |
A |
T |
19: 13,388,784 (GRCm39) |
M284L |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,331 (GRCm39) |
D182G |
probably damaging |
Het |
| Or6ae1 |
T |
C |
7: 139,742,002 (GRCm39) |
N287S |
probably damaging |
Het |
| P2ry12 |
C |
A |
3: 59,124,908 (GRCm39) |
V256F |
probably damaging |
Het |
| Pcdhb22 |
T |
A |
18: 37,651,904 (GRCm39) |
I124N |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,256,375 (GRCm39) |
F622L |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,888,863 (GRCm39) |
N361K |
probably benign |
Het |
| Plod2 |
T |
G |
9: 92,487,480 (GRCm39) |
L600V |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,446,854 (GRCm39) |
Y631H |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,386,197 (GRCm39) |
L693P |
probably damaging |
Het |
| Ptprd |
A |
G |
4: 75,875,476 (GRCm39) |
Y1195H |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,459,091 (GRCm39) |
|
probably null |
Het |
| Ric8a |
A |
G |
7: 140,437,886 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scfd1 |
A |
T |
12: 51,459,360 (GRCm39) |
K307M |
probably damaging |
Het |
| Sh2b2 |
A |
G |
5: 136,261,117 (GRCm39) |
F33S |
probably damaging |
Het |
| Smg7 |
T |
G |
1: 152,746,508 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Strn3 |
G |
A |
12: 51,657,187 (GRCm39) |
T642I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,028,837 (GRCm39) |
|
probably null |
Het |
| Syne3 |
A |
G |
12: 104,935,619 (GRCm39) |
L53P |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,950,569 (GRCm39) |
|
probably benign |
Het |
| Tmem30b |
T |
C |
12: 73,592,942 (GRCm39) |
N58D |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,991,954 (GRCm39) |
Y641H |
probably damaging |
Het |
| Trim25 |
A |
T |
11: 88,890,564 (GRCm39) |
T84S |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,746,286 (GRCm39) |
F537I |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,755,900 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
T |
A |
5: 87,040,758 (GRCm39) |
Y388F |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,268,640 (GRCm39) |
V281A |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,502 (GRCm39) |
D1030E |
probably damaging |
Het |
| Vps8 |
C |
A |
16: 21,261,107 (GRCm39) |
F82L |
probably damaging |
Het |
| Zfp296 |
A |
G |
7: 19,313,661 (GRCm39) |
D172G |
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,229,958 (GRCm39) |
C189F |
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 |
|
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 |
|
|
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'- AGCCTGCTTTCCTGTAAGCACTG -3'
(R):5'- AGAAGTACACTTGGGACTGGAGCC -3'
Sequencing Primer
(F):5'- CCTGTAAGCACTGTACCCC -3'
(R):5'- GCCATCTGGGACTAGCTAAG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation