Incidental Mutation 'R7830:Aldh16a1'
| ID |
602374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
2410004H02Rik |
| MMRRC Submission |
045884-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7830 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44795649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 388
(L388Q)
|
| 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: ENSMUST00000107815
AA Change: L388Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: L388Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
48 |
488 |
3.8e-87 |
PFAM |
|
Pfam:Aldedh
|
536 |
753 |
2.7e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209963
AA Change: L388Q
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210125
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211362
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
T |
C |
10: 80,442,654 (GRCm39) |
L164P |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,539,664 (GRCm39) |
N65S |
probably damaging |
Het |
| Ankrd54 |
G |
A |
15: 78,938,250 (GRCm39) |
T287I |
probably damaging |
Het |
| Bltp1 |
CCAGATTCATGTAGCA |
CCA |
3: 37,019,081 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
T |
A |
19: 40,753,801 (GRCm39) |
V108E |
possibly damaging |
Het |
| Cd200l1 |
A |
T |
16: 45,262,917 (GRCm39) |
I187N |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,469,245 (GRCm39) |
D609V |
probably damaging |
Het |
| Col6a4 |
G |
T |
9: 105,952,589 (GRCm39) |
D436E |
probably damaging |
Het |
| Cul9 |
A |
T |
17: 46,851,237 (GRCm39) |
D394E |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,523,210 (GRCm39) |
E75G |
probably damaging |
Het |
| Efr3a |
G |
A |
15: 65,701,679 (GRCm39) |
V198I |
probably benign |
Het |
| Eif2ak2 |
C |
T |
17: 79,173,832 (GRCm39) |
G249S |
probably damaging |
Het |
| Erich4 |
A |
T |
7: 25,315,149 (GRCm39) |
M42K |
probably benign |
Het |
| Fig4 |
A |
C |
10: 41,132,462 (GRCm39) |
V448G |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,848 (GRCm39) |
D303G |
probably damaging |
Het |
| Golgb1 |
T |
G |
16: 36,719,083 (GRCm39) |
Y330D |
possibly damaging |
Het |
| Gpr146 |
C |
T |
5: 139,378,357 (GRCm39) |
A53V |
probably benign |
Het |
| Klk1b27 |
A |
C |
7: 43,705,150 (GRCm39) |
M106L |
probably benign |
Het |
| Lipc |
T |
C |
9: 70,720,183 (GRCm39) |
T190A |
probably damaging |
Het |
| Lrrc4b |
A |
G |
7: 44,111,231 (GRCm39) |
I368V |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,284 (GRCm39) |
Q368L |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,738,057 (GRCm39) |
Y501* |
probably null |
Het |
| Neb |
T |
A |
2: 52,055,201 (GRCm39) |
H6445L |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,648,492 (GRCm39) |
M741K |
probably benign |
Het |
| Nxn |
T |
A |
11: 76,164,819 (GRCm39) |
I231F |
probably damaging |
Het |
| Or1j13 |
A |
G |
2: 36,369,392 (GRCm39) |
L250P |
probably damaging |
Het |
| Or5b116 |
T |
C |
19: 13,422,985 (GRCm39) |
L203S |
probably benign |
Het |
| Osbp2 |
A |
G |
11: 3,813,414 (GRCm39) |
S152P |
probably benign |
Het |
| P3h4 |
T |
C |
11: 100,304,869 (GRCm39) |
T173A |
probably damaging |
Het |
| Pcdh15 |
C |
A |
10: 74,221,733 (GRCm39) |
R678S |
probably damaging |
Het |
| Pcdhb6 |
C |
A |
18: 37,469,365 (GRCm39) |
T762K |
probably benign |
Het |
| Pnrc1 |
G |
A |
4: 33,248,057 (GRCm39) |
P114L |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,574,481 (GRCm39) |
S126R |
probably damaging |
Het |
| Prl3d2 |
C |
T |
13: 27,310,000 (GRCm39) |
T155I |
probably benign |
Het |
| Prune2 |
C |
A |
19: 17,100,038 (GRCm39) |
N1847K |
probably benign |
Het |
| Psg21 |
A |
T |
7: 18,381,223 (GRCm39) |
V440E |
probably damaging |
Het |
| Rag1 |
A |
G |
2: 101,472,404 (GRCm39) |
S913P |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,301,928 (GRCm39) |
N24S |
probably benign |
Het |
| Ros1 |
T |
A |
10: 52,031,030 (GRCm39) |
H525L |
probably damaging |
Het |
| Scarb1 |
T |
C |
5: 125,364,447 (GRCm39) |
Y94C |
probably damaging |
Het |
| Serpinb6a |
T |
G |
13: 34,114,030 (GRCm39) |
D120A |
probably benign |
Het |
| Sik3 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
9: 46,123,355 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,566 (GRCm39) |
D299G |
probably benign |
Het |
| Sox1 |
G |
A |
8: 12,446,955 (GRCm39) |
A199T |
probably damaging |
Het |
| Strc |
T |
A |
2: 121,205,530 (GRCm39) |
I867F |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,437,985 (GRCm39) |
K346R |
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,040,142 (GRCm39) |
Q1541* |
probably null |
Het |
| Wrn |
G |
A |
8: 33,759,082 (GRCm39) |
L716F |
probably damaging |
Het |
| Zfp141 |
G |
A |
7: 42,124,612 (GRCm39) |
T620I |
probably benign |
Het |
| Zfp354b |
A |
T |
11: 50,814,136 (GRCm39) |
I263K |
probably benign |
Het |
| Zfp804b |
T |
A |
5: 6,821,124 (GRCm39) |
E646D |
probably benign |
Het |
| Zfp970 |
G |
T |
2: 177,167,338 (GRCm39) |
C304F |
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 |
|
|
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 |
|
|
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'- TCCTTGACTGTGCGGAAAGG -3'
(R):5'- GGAGCTAGAACCTCAATACCTAG -3'
Sequencing Primer
(F):5'- CCACGGTACCTAAAAGGGGTGAC -3'
(R):5'- GCTAGAACCTCAATACCTAGATCTAG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation