Incidental Mutation 'R1224:Aldh16a1'
| ID |
152833 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
2410004H02Rik |
| MMRRC Submission |
039293-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1224 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
splice site (398 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 44791471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107815]
[ENSMUST00000209963]
[ENSMUST00000211169]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007977
AA Change: N768S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000007977
Gene: ENSMUSG00000007833
AA Change: N768S
| 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 null
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 |
probably benign
Transcript: ENSMUST00000209963
AA Change: N768S
PolyPhen 2
Score 0.289 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210725
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211169
AA Change: N78S
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,931,408 (GRCm39) |
E1248D |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,180,227 (GRCm39) |
I107N |
probably damaging |
Het |
| Atp6ap1l |
G |
A |
13: 91,034,675 (GRCm39) |
Q236* |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,744,706 (GRCm39) |
I344K |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,778,141 (GRCm39) |
D204V |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,434,878 (GRCm39) |
S346G |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,207,869 (GRCm39) |
C207S |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,710,548 (GRCm39) |
D1190G |
possibly damaging |
Het |
| Gimap8 |
G |
A |
6: 48,627,629 (GRCm39) |
S201N |
probably benign |
Het |
| Gm10153 |
A |
G |
7: 141,744,072 (GRCm39) |
S19P |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,938,824 (GRCm39) |
L75P |
probably damaging |
Het |
| Krt31 |
C |
T |
11: 99,940,690 (GRCm39) |
|
probably null |
Het |
| Ly6a |
A |
G |
15: 74,868,327 (GRCm39) |
V54A |
possibly damaging |
Het |
| Map3k7cl |
T |
A |
16: 87,352,891 (GRCm39) |
D21E |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,873,543 (GRCm39) |
L230P |
probably damaging |
Het |
| Rhog |
C |
A |
7: 101,888,959 (GRCm39) |
V165F |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,844 (GRCm39) |
V313A |
probably benign |
Het |
| Sox14 |
G |
C |
9: 99,757,168 (GRCm39) |
H190Q |
probably damaging |
Het |
| Sval2 |
G |
A |
6: 41,841,188 (GRCm39) |
D103N |
probably benign |
Het |
| Tm9sf3 |
A |
T |
19: 41,211,634 (GRCm39) |
V403D |
probably damaging |
Het |
| Tmem269 |
T |
C |
4: 119,074,323 (GRCm39) |
K18R |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,139 (GRCm39) |
F49S |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,809,311 (GRCm39) |
T299S |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,775,324 (GRCm39) |
V6A |
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 |
|
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'- TGAAGAAGCCACTGTTCCCACATC -3'
(R):5'- CCTGTTGGCAAGAGCCTTGAACTG -3'
Sequencing Primer
(F):5'- TCCTCAAATGCACAGTTAAAGTC -3'
(R):5'- GCCTTGAACTGGGCAAGATG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation