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 |
2410004H02Rik |
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 |
44791257-44804008 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44797328 bp (GRCm39)
|
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 |
Abca3 |
T |
G |
17: 24,617,495 (GRCm39) |
L1064R |
possibly damaging |
Het |
Abca7 |
A |
T |
10: 79,850,822 (GRCm39) |
D2051V |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,875,295 (GRCm39) |
I626F |
probably damaging |
Het |
Abcg5 |
A |
G |
17: 84,977,774 (GRCm39) |
S333P |
probably damaging |
Het |
Abl2 |
T |
C |
1: 156,468,820 (GRCm39) |
S695P |
probably benign |
Het |
Aen |
C |
T |
7: 78,552,204 (GRCm39) |
P55S |
possibly damaging |
Het |
Afg3l1 |
G |
T |
8: 124,228,008 (GRCm39) |
A598S |
probably damaging |
Het |
Ang |
A |
T |
14: 51,338,973 (GRCm39) |
H38L |
probably benign |
Het |
Ankar |
A |
T |
1: 72,698,192 (GRCm39) |
I954N |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,373,924 (GRCm39) |
K862* |
probably null |
Het |
Brme1 |
G |
C |
8: 84,887,862 (GRCm39) |
G71A |
probably benign |
Het |
Cad |
T |
C |
5: 31,217,557 (GRCm39) |
|
probably null |
Het |
Cc2d2b |
A |
T |
19: 40,797,438 (GRCm39) |
Y740F |
unknown |
Het |
Ccdc182 |
T |
C |
11: 88,185,042 (GRCm39) |
Y41H |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,778,532 (GRCm39) |
R2848G |
unknown |
Het |
Chrna6 |
A |
T |
8: 27,897,019 (GRCm39) |
L286* |
probably null |
Het |
Cimap1d |
G |
A |
10: 79,478,525 (GRCm39) |
P80S |
probably benign |
Het |
Cracr2b |
A |
G |
7: 141,043,115 (GRCm39) |
|
probably benign |
Het |
Fam184b |
C |
T |
5: 45,699,568 (GRCm39) |
|
probably null |
Het |
Flnc |
T |
C |
6: 29,460,849 (GRCm39) |
S2647P |
probably benign |
Het |
Ftsj3 |
T |
C |
11: 106,145,506 (GRCm39) |
D76G |
probably damaging |
Het |
Fxyd1 |
T |
A |
7: 30,753,743 (GRCm39) |
M17L |
probably benign |
Het |
Golim4 |
G |
A |
3: 75,785,360 (GRCm39) |
S677L |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,502,491 (GRCm39) |
V455A |
possibly damaging |
Het |
H2-Q1 |
C |
A |
17: 35,540,312 (GRCm39) |
S132R |
probably benign |
Het |
H2-Q7 |
A |
G |
17: 35,659,037 (GRCm39) |
I163V |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,358,098 (GRCm39) |
D2393V |
possibly damaging |
Het |
Hmgb2 |
A |
G |
8: 57,965,762 (GRCm39) |
K44E |
possibly damaging |
Het |
Itgad |
A |
G |
7: 127,789,351 (GRCm39) |
D605G |
probably benign |
Het |
Kbtbd12 |
G |
T |
6: 88,591,094 (GRCm39) |
F16L |
unknown |
Het |
Klhl23 |
T |
C |
2: 69,655,045 (GRCm39) |
I305T |
probably benign |
Het |
Lrguk |
A |
T |
6: 34,006,411 (GRCm39) |
N7I |
probably benign |
Het |
Lrp5 |
A |
G |
19: 3,641,774 (GRCm39) |
L1396P |
probably damaging |
Het |
Mapkapk5 |
T |
C |
5: 121,678,637 (GRCm39) |
E13G |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,621,970 (GRCm39) |
V704A |
probably damaging |
Het |
Mast2 |
A |
G |
4: 116,165,508 (GRCm39) |
S1303P |
possibly damaging |
Het |
Mcm2 |
T |
C |
6: 88,864,928 (GRCm39) |
D516G |
probably damaging |
Het |
Mon2 |
A |
T |
10: 122,874,364 (GRCm39) |
|
probably null |
Het |
Mrc2 |
T |
A |
11: 105,216,629 (GRCm39) |
N139K |
probably damaging |
Het |
Myh14 |
C |
T |
7: 44,261,125 (GRCm39) |
E1789K |
probably damaging |
Het |
Myh7b |
T |
A |
2: 155,460,660 (GRCm39) |
L271Q |
probably damaging |
Het |
Oog2 |
A |
T |
4: 143,921,912 (GRCm39) |
H274L |
probably benign |
Het |
Oosp1 |
A |
C |
19: 11,645,774 (GRCm39) |
S121R |
probably benign |
Het |
Or13a28 |
T |
C |
7: 140,218,267 (GRCm39) |
S218P |
probably damaging |
Het |
Or8k3b |
A |
G |
2: 86,521,166 (GRCm39) |
V51A |
probably benign |
Het |
Pepd |
T |
C |
7: 34,721,197 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
C |
7: 116,005,178 (GRCm39) |
S363R |
probably benign |
Het |
Polr2b |
T |
C |
5: 77,468,868 (GRCm39) |
Y215H |
probably benign |
Het |
Ppcdc |
A |
T |
9: 57,321,958 (GRCm39) |
V194E |
probably benign |
Het |
Rabgap1l |
A |
C |
1: 160,509,667 (GRCm39) |
I470S |
probably benign |
Het |
Scgb1b3 |
G |
A |
7: 31,075,383 (GRCm39) |
A78T |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,083,345 (GRCm39) |
L368Q |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,647,576 (GRCm39) |
I944F |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,206,805 (GRCm39) |
H3461L |
probably benign |
Het |
Tas2r134 |
A |
G |
2: 51,518,145 (GRCm39) |
Y208C |
probably benign |
Het |
Tasor |
A |
G |
14: 27,193,809 (GRCm39) |
E1003G |
probably damaging |
Het |
Tm9sf3 |
G |
A |
19: 41,227,198 (GRCm39) |
S291F |
probably damaging |
Het |
Tra2a |
G |
A |
6: 49,227,921 (GRCm39) |
T69I |
unknown |
Het |
Ube2q1 |
T |
A |
3: 89,683,898 (GRCm39) |
L171Q |
possibly damaging |
Het |
Ufd1 |
A |
G |
16: 18,636,715 (GRCm39) |
T78A |
probably damaging |
Het |
Vmn1r13 |
T |
C |
6: 57,187,587 (GRCm39) |
S249P |
probably damaging |
Het |
Wdr91 |
G |
A |
6: 34,861,258 (GRCm39) |
S648L |
probably benign |
Het |
Zfp51 |
T |
A |
17: 21,684,058 (GRCm39) |
N224K |
probably benign |
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 |
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'- GGCACCAGAGACTTTACCTAC -3'
(R):5'- ATAGTCCAGGCTGCTCTGAG -3'
Sequencing Primer
(F):5'- GAGACTTTACCTACCCATAGCCAAGG -3'
(R):5'- ACGACAACTCTGTGTTCTCTGAAGG -3'
|
Posted On |
2019-06-26 |