Incidental Mutation 'R7303:Aldh16a1'
| ID |
567102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
|
| MMRRC Submission |
045364-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45140684-45154584 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45147904 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 160
(L160Q)
|
| 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: L160Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: L160Q
| 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: L160Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432K21Rik |
G |
C |
8: 84,161,233 (GRCm38) |
G71A |
probably benign |
Het |
| Abca3 |
T |
G |
17: 24,398,521 (GRCm38) |
L1064R |
possibly damaging |
Het |
| Abca7 |
A |
T |
10: 80,014,988 (GRCm38) |
D2051V |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,911,560 (GRCm38) |
I626F |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,670,346 (GRCm38) |
S333P |
probably damaging |
Het |
| Abl2 |
T |
C |
1: 156,641,250 (GRCm38) |
S695P |
probably benign |
Het |
| Aen |
C |
T |
7: 78,902,456 (GRCm38) |
P55S |
possibly damaging |
Het |
| Afg3l1 |
G |
T |
8: 123,501,269 (GRCm38) |
A598S |
probably damaging |
Het |
| Ang |
A |
T |
14: 51,101,516 (GRCm38) |
H38L |
probably benign |
Het |
| Ankar |
A |
T |
1: 72,659,033 (GRCm38) |
I954N |
probably benign |
Het |
| Aox2 |
A |
T |
1: 58,334,765 (GRCm38) |
K862* |
probably null |
Het |
| Cad |
T |
C |
5: 31,060,213 (GRCm38) |
|
probably null |
Het |
| Cc2d2b |
A |
T |
19: 40,808,994 (GRCm38) |
Y740F |
unknown |
Het |
| Ccdc182 |
T |
C |
11: 88,294,216 (GRCm38) |
Y41H |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,051,904 (GRCm38) |
R2848G |
unknown |
Het |
| Chrna6 |
A |
T |
8: 27,406,991 (GRCm38) |
L286* |
probably null |
Het |
| Cracr2b |
A |
G |
7: 141,463,202 (GRCm38) |
|
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,542,226 (GRCm38) |
|
probably null |
Het |
| Fam208a |
A |
G |
14: 27,471,852 (GRCm38) |
E1003G |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,460,850 (GRCm38) |
S2647P |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,254,680 (GRCm38) |
D76G |
probably damaging |
Het |
| Fxyd1 |
T |
A |
7: 31,054,318 (GRCm38) |
M17L |
probably benign |
Het |
| Golim4 |
G |
A |
3: 75,878,053 (GRCm38) |
S677L |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,595,070 (GRCm38) |
V455A |
possibly damaging |
Het |
| H2-Q1 |
C |
A |
17: 35,321,336 (GRCm38) |
S132R |
probably benign |
Het |
| H2-Q7 |
A |
G |
17: 35,440,061 (GRCm38) |
I163V |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,450,816 (GRCm38) |
D2393V |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,512,728 (GRCm38) |
K44E |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 128,190,179 (GRCm38) |
D605G |
probably benign |
Het |
| Kbtbd12 |
G |
T |
6: 88,614,112 (GRCm38) |
F16L |
unknown |
Het |
| Klhl23 |
T |
C |
2: 69,824,701 (GRCm38) |
I305T |
probably benign |
Het |
| Lrguk |
A |
T |
6: 34,029,476 (GRCm38) |
N7I |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,591,774 (GRCm38) |
L1396P |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,540,574 (GRCm38) |
E13G |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,655,536 (GRCm38) |
V704A |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,308,311 (GRCm38) |
S1303P |
possibly damaging |
Het |
| Mcm2 |
T |
C |
6: 88,887,946 (GRCm38) |
D516G |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 123,038,459 (GRCm38) |
|
probably null |
Het |
| Mrc2 |
T |
A |
11: 105,325,803 (GRCm38) |
N139K |
probably damaging |
Het |
| Myh14 |
C |
T |
7: 44,611,701 (GRCm38) |
E1789K |
probably damaging |
Het |
| Myh7b |
T |
A |
2: 155,618,740 (GRCm38) |
L271Q |
probably damaging |
Het |
| Odf3l2 |
G |
A |
10: 79,642,691 (GRCm38) |
P80S |
probably benign |
Het |
| Olfr1087 |
A |
G |
2: 86,690,822 (GRCm38) |
V51A |
probably benign |
Het |
| Olfr61 |
T |
C |
7: 140,638,354 (GRCm38) |
S218P |
probably damaging |
Het |
| Oog2 |
A |
T |
4: 144,195,342 (GRCm38) |
H274L |
probably benign |
Het |
| Oosp1 |
A |
C |
19: 11,668,410 (GRCm38) |
S121R |
probably benign |
Het |
| Pepd |
T |
C |
7: 35,021,772 (GRCm38) |
|
probably null |
Het |
| Pik3c2a |
A |
C |
7: 116,405,943 (GRCm38) |
S363R |
probably benign |
Het |
| Polr2b |
T |
C |
5: 77,321,021 (GRCm38) |
Y215H |
probably benign |
Het |
| Ppcdc |
A |
T |
9: 57,414,675 (GRCm38) |
V194E |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,682,097 (GRCm38) |
I470S |
probably benign |
Het |
| Scgb1b3 |
G |
A |
7: 31,375,958 (GRCm38) |
A78T |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 105,356,713 (GRCm38) |
L368Q |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,647,490 (GRCm38) |
I944F |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,256,805 (GRCm38) |
H3461L |
probably benign |
Het |
| Tas2r134 |
A |
G |
2: 51,628,133 (GRCm38) |
Y208C |
probably benign |
Het |
| Tm9sf3 |
G |
A |
19: 41,238,759 (GRCm38) |
S291F |
probably damaging |
Het |
| Tra2a |
G |
A |
6: 49,250,987 (GRCm38) |
T69I |
unknown |
Het |
| Ube2q1 |
T |
A |
3: 89,776,591 (GRCm38) |
L171Q |
possibly damaging |
Het |
| Ufd1 |
A |
G |
16: 18,817,965 (GRCm38) |
T78A |
probably damaging |
Het |
| Vmn1r13 |
T |
C |
6: 57,210,602 (GRCm38) |
S249P |
probably damaging |
Het |
| Wdr91 |
G |
A |
6: 34,884,323 (GRCm38) |
S648L |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,463,796 (GRCm38) |
N224K |
probably benign |
Het |
|
| Other mutations in Aldh16a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Aldh16a1
|
APN |
7 |
45,145,513 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01449:Aldh16a1
|
APN |
7 |
45,141,967 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01599:Aldh16a1
|
APN |
7 |
45,142,093 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02118:Aldh16a1
|
APN |
7 |
45,146,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02120:Aldh16a1
|
APN |
7 |
45,146,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02123:Aldh16a1
|
APN |
7 |
45,146,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Aldh16a1
|
APN |
7 |
45,146,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02126:Aldh16a1
|
APN |
7 |
45,146,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02794:Aldh16a1
|
APN |
7 |
45,145,594 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03348:Aldh16a1
|
APN |
7 |
45,141,975 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
G1Funyon:Aldh16a1
|
UTSW |
7 |
45,141,982 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0242:Aldh16a1
|
UTSW |
7 |
45,144,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0242:Aldh16a1
|
UTSW |
7 |
45,144,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0305:Aldh16a1
|
UTSW |
7 |
45,147,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0532:Aldh16a1
|
UTSW |
7 |
45,142,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0550:Aldh16a1
|
UTSW |
7 |
45,146,229 (GRCm38) |
splice site |
probably null |
|
|
R0707:Aldh16a1
|
UTSW |
7 |
45,144,507 (GRCm38) |
unclassified |
probably benign |
|
|
R0801:Aldh16a1
|
UTSW |
7 |
45,147,476 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1224:Aldh16a1
|
UTSW |
7 |
45,142,047 (GRCm38) |
splice site |
probably null |
|
|
R1371:Aldh16a1
|
UTSW |
7 |
45,147,250 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1778:Aldh16a1
|
UTSW |
7 |
45,147,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2064:Aldh16a1
|
UTSW |
7 |
45,147,161 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4616:Aldh16a1
|
UTSW |
7 |
45,148,788 (GRCm38) |
intron |
probably benign |
|
|
R4859:Aldh16a1
|
UTSW |
7 |
45,147,307 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4928:Aldh16a1
|
UTSW |
7 |
45,141,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5476:Aldh16a1
|
UTSW |
7 |
45,142,069 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5591:Aldh16a1
|
UTSW |
7 |
45,144,652 (GRCm38) |
missense |
probably null |
0.82 |
|
R5647:Aldh16a1
|
UTSW |
7 |
45,154,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5692:Aldh16a1
|
UTSW |
7 |
45,147,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5698:Aldh16a1
|
UTSW |
7 |
45,154,407 (GRCm38) |
unclassified |
probably benign |
|
|
R5879:Aldh16a1
|
UTSW |
7 |
45,147,506 (GRCm38) |
nonsense |
probably null |
|
|
R5890:Aldh16a1
|
UTSW |
7 |
45,144,545 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6321:Aldh16a1
|
UTSW |
7 |
45,149,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6338:Aldh16a1
|
UTSW |
7 |
45,141,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6373:Aldh16a1
|
UTSW |
7 |
45,146,271 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6497:Aldh16a1
|
UTSW |
7 |
45,144,937 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6566:Aldh16a1
|
UTSW |
7 |
45,143,227 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7248:Aldh16a1
|
UTSW |
7 |
45,145,594 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7467:Aldh16a1
|
UTSW |
7 |
45,145,907 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7636:Aldh16a1
|
UTSW |
7 |
45,147,531 (GRCm38) |
missense |
unknown |
|
|
R7830:Aldh16a1
|
UTSW |
7 |
45,146,225 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8301:Aldh16a1
|
UTSW |
7 |
45,141,982 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8444:Aldh16a1
|
UTSW |
7 |
45,149,691 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8801:Aldh16a1
|
UTSW |
7 |
45,142,014 (GRCm38) |
missense |
probably benign |
|
|
R9011:Aldh16a1
|
UTSW |
7 |
45,145,527 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9187:Aldh16a1
|
UTSW |
7 |
45,142,017 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9620:Aldh16a1
|
UTSW |
7 |
45,147,989 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Aldh16a1
|
UTSW |
7 |
45,145,903 (GRCm38) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACCAGAGACTTTACCTAC -3'
(R):5'- ATAGTCCAGGCTGCTCTGAG -3'
Sequencing Primer
(F):5'- GAGACTTTACCTACCCATAGCCAAGG -3'
(R):5'- ACGACAACTCTGTGTTCTCTGAAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation