Incidental Mutation 'R5890:Aldh16a1'
| ID |
457092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
2410004H02Rik |
| MMRRC Submission |
044091-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5890 (G1)
|
| Quality Score |
175 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44793969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 636
(T636S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107815]
[ENSMUST00000209963]
[ENSMUST00000211169]
[ENSMUST00000211362]
[ENSMUST00000209957]
[ENSMUST00000210125]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007977
AA Change: T636S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: T636S
| 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
AA Change: T636S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: T636S
| 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: ENSMUST00000126618
AA Change: T772S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134655
AA Change: T49S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119021
Gene: ENSMUSG00000007833
AA Change: T49S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134925
AA Change: H60L
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209963
AA Change: T636S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211169
AA Change: T49S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210352
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209957
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210539
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,550,554 (GRCm39) |
|
probably null |
Het |
| Acsm3 |
C |
A |
7: 119,374,457 (GRCm39) |
T303N |
probably benign |
Het |
| Adamts13 |
A |
T |
2: 26,876,603 (GRCm39) |
R506W |
probably damaging |
Het |
| Adck5 |
C |
T |
15: 76,477,785 (GRCm39) |
T166M |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,687,266 (GRCm39) |
I413F |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,564,811 (GRCm39) |
D252E |
probably damaging |
Het |
| Ampd1 |
C |
A |
3: 102,997,391 (GRCm39) |
F264L |
probably damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,885,981 (GRCm39) |
|
probably benign |
Het |
| Babam2 |
A |
G |
5: 32,222,151 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,164,096 (GRCm39) |
Q40* |
probably null |
Het |
| Bod1l |
T |
A |
5: 41,977,921 (GRCm39) |
E1131V |
probably benign |
Het |
| Cbs |
C |
T |
17: 31,832,193 (GRCm39) |
V553M |
probably damaging |
Het |
| Cd72 |
T |
C |
4: 43,454,475 (GRCm39) |
K18R |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,128,587 (GRCm39) |
Y580C |
probably damaging |
Het |
| Chrnb1 |
T |
A |
11: 69,683,555 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cntf |
A |
G |
19: 12,741,357 (GRCm39) |
W168R |
probably damaging |
Het |
| Cxxc1 |
T |
A |
18: 74,354,237 (GRCm39) |
D648E |
possibly damaging |
Het |
| Cyp2c68 |
A |
T |
19: 39,700,936 (GRCm39) |
L294Q |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,605,414 (GRCm39) |
S532P |
probably damaging |
Het |
| Defb3 |
G |
A |
8: 19,345,200 (GRCm39) |
C52Y |
probably damaging |
Het |
| Dennd5a |
T |
G |
7: 109,533,428 (GRCm39) |
E114A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,428,039 (GRCm39) |
F222L |
probably benign |
Het |
| Dock9 |
A |
C |
14: 121,905,820 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
T |
5: 96,793,807 (GRCm39) |
H1043L |
probably benign |
Het |
| Gamt |
C |
A |
10: 80,095,741 (GRCm39) |
R63L |
possibly damaging |
Het |
| Gm1527 |
A |
G |
3: 28,969,544 (GRCm39) |
H298R |
probably benign |
Het |
| Gphb5 |
C |
T |
12: 75,462,596 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
T |
12: 16,783,422 (GRCm39) |
V104D |
possibly damaging |
Het |
| Hck |
A |
G |
2: 152,970,996 (GRCm39) |
D86G |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,833,958 (GRCm39) |
K321* |
probably null |
Het |
| Kcna5 |
C |
T |
6: 126,511,699 (GRCm39) |
R143H |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,680,264 (GRCm39) |
W867L |
possibly damaging |
Het |
| Map3k4 |
G |
A |
17: 12,490,303 (GRCm39) |
A376V |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,133,914 (GRCm39) |
M661K |
probably benign |
Het |
| Mecp2 |
C |
T |
X: 73,079,043 (GRCm39) |
V496M |
probably damaging |
Het |
| Mfsd2b |
A |
T |
12: 4,917,651 (GRCm39) |
C132S |
probably damaging |
Het |
| Mfsd4a |
T |
C |
1: 131,966,666 (GRCm39) |
Y356C |
probably damaging |
Het |
| Mif4gd |
G |
T |
11: 115,500,188 (GRCm39) |
A89E |
probably benign |
Het |
| Mkln1 |
A |
T |
6: 31,467,482 (GRCm39) |
E593D |
probably benign |
Het |
| Mlh1 |
G |
T |
9: 111,057,563 (GRCm39) |
N749K |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,201,707 (GRCm39) |
*339C |
probably null |
Het |
| Nphp4 |
T |
C |
4: 152,631,536 (GRCm39) |
V812A |
probably benign |
Het |
| Nrcam |
G |
T |
12: 44,623,554 (GRCm39) |
V1048L |
probably benign |
Het |
| Obsl1 |
G |
A |
1: 75,470,503 (GRCm39) |
A856V |
probably damaging |
Het |
| Osgepl1 |
T |
A |
1: 53,357,326 (GRCm39) |
F163I |
probably damaging |
Het |
| Pcdha6 |
C |
A |
18: 37,102,121 (GRCm39) |
T438K |
possibly damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,286 (GRCm39) |
M271L |
probably benign |
Het |
| Phip |
T |
C |
9: 82,789,005 (GRCm39) |
T770A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,217,734 (GRCm39) |
T166A |
probably damaging |
Het |
| Ptprf |
A |
T |
4: 118,081,932 (GRCm39) |
I1102K |
probably benign |
Het |
| Sbsn |
T |
C |
7: 30,452,692 (GRCm39) |
V569A |
possibly damaging |
Het |
| Skida1 |
T |
A |
2: 18,050,814 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,789,809 (GRCm39) |
|
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,386,535 (GRCm39) |
Y168H |
probably damaging |
Het |
| Sufu |
A |
T |
19: 46,443,172 (GRCm39) |
|
probably null |
Het |
| Tbc1d24 |
A |
T |
17: 24,404,500 (GRCm39) |
W215R |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,552,067 (GRCm39) |
L2502P |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,890,703 (GRCm39) |
E10V |
probably damaging |
Het |
| Trip11 |
T |
C |
12: 101,852,231 (GRCm39) |
E611G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,540,243 (GRCm39) |
A34248S |
possibly damaging |
Het |
| Ube3a |
T |
A |
7: 58,921,776 (GRCm39) |
N49K |
probably damaging |
Het |
| Ube3c |
A |
G |
5: 29,863,290 (GRCm39) |
D855G |
possibly damaging |
Het |
| Ugt8a |
A |
G |
3: 125,669,202 (GRCm39) |
S301P |
probably benign |
Het |
| Wdfy4 |
T |
A |
14: 32,824,534 (GRCm39) |
N1295I |
possibly damaging |
Het |
| Wdr47 |
G |
T |
3: 108,517,328 (GRCm39) |
G43C |
probably damaging |
Het |
| Wdtc1 |
A |
C |
4: 133,021,673 (GRCm39) |
L601W |
unknown |
Het |
| Zfp236 |
A |
G |
18: 82,658,276 (GRCm39) |
F614S |
possibly damaging |
Het |
| Zfp637 |
T |
A |
6: 117,822,047 (GRCm39) |
D58E |
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 |
|
|
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'- TCTCAGCCAAGCACTGTTC -3'
(R):5'- TAGCTAAGGCCAGGCTATACCC -3'
Sequencing Primer
(F):5'- AGCCAAGCACTGTTCCATCTC -3'
(R):5'- GGCCAGGCTATACCCTAACTTG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation