Incidental Mutation 'R9011:Aldh16a1'
| ID |
685636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh16a1
|
| Ensembl Gene |
ENSMUSG00000007833 |
| Gene Name |
aldehyde dehydrogenase 16 family, member A1 |
| Synonyms |
2410004H02Rik |
| MMRRC Submission |
068841-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9011 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44791257-44804008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44794951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 506
(F506S)
|
| 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: F506S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103445
Gene: ENSMUSG00000007833
AA Change: F506S
| 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: F506S
PolyPhen 2
Score 0.983 (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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
A |
G |
12: 70,999,734 (GRCm39) |
T177A |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 129,916,111 (GRCm39) |
D1468N |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,417,444 (GRCm39) |
M56K |
probably benign |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,756 (GRCm39) |
S97G |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,306,663 (GRCm39) |
G1905D |
probably benign |
Het |
| Ccdc192 |
A |
T |
18: 57,800,376 (GRCm39) |
I176F |
possibly damaging |
Het |
| Ccne1 |
A |
T |
7: 37,806,085 (GRCm39) |
M13K |
probably benign |
Het |
| Chil3 |
A |
T |
3: 106,057,031 (GRCm39) |
Y304* |
probably null |
Het |
| Chst15 |
A |
G |
7: 131,872,246 (GRCm39) |
F12L |
probably benign |
Het |
| Cldn23 |
T |
A |
8: 36,292,826 (GRCm39) |
I221F |
probably damaging |
Het |
| Col16a1 |
T |
C |
4: 129,946,652 (GRCm39) |
F92L |
unknown |
Het |
| Col6a3 |
A |
T |
1: 90,710,057 (GRCm39) |
|
probably benign |
Het |
| Cyp2w1 |
T |
A |
5: 139,340,314 (GRCm39) |
V199E |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,997,240 (GRCm39) |
Y512C |
probably damaging |
Het |
| Dop1a |
A |
T |
9: 86,397,396 (GRCm39) |
H900L |
probably damaging |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Eif3l |
T |
G |
15: 78,973,725 (GRCm39) |
M380R |
possibly damaging |
Het |
| Fer1l5 |
A |
T |
1: 36,441,601 (GRCm39) |
K605N |
probably damaging |
Het |
| Fgfbp1 |
T |
G |
5: 44,136,627 (GRCm39) |
N222H |
probably benign |
Het |
| Flcn |
A |
G |
11: 59,690,233 (GRCm39) |
L273P |
possibly damaging |
Het |
| Fzd10 |
C |
G |
5: 128,679,369 (GRCm39) |
P363R |
probably damaging |
Het |
| Gabpa |
A |
G |
16: 84,638,209 (GRCm39) |
|
probably benign |
Het |
| Garin4 |
A |
C |
1: 190,895,258 (GRCm39) |
S462A |
probably benign |
Het |
| Gfi1 |
A |
G |
5: 107,873,425 (GRCm39) |
|
probably null |
Het |
| Ift57 |
A |
G |
16: 49,579,777 (GRCm39) |
Q316R |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,662,909 (GRCm39) |
F542L |
probably benign |
Het |
| Kif28 |
G |
C |
1: 179,529,984 (GRCm39) |
L726V |
possibly damaging |
Het |
| Krt90 |
A |
G |
15: 101,471,235 (GRCm39) |
I9T |
probably benign |
Het |
| Lefty1 |
A |
T |
1: 180,765,241 (GRCm39) |
M270L |
probably benign |
Het |
| Mipol1 |
A |
T |
12: 57,503,865 (GRCm39) |
E344D |
probably benign |
Het |
| Mon2 |
A |
T |
10: 122,862,213 (GRCm39) |
M737K |
possibly damaging |
Het |
| Mrpl14 |
A |
G |
17: 46,009,330 (GRCm39) |
N143S |
probably benign |
Het |
| Nelfcd |
T |
A |
2: 174,268,717 (GRCm39) |
H589Q |
probably benign |
Het |
| Npepps |
T |
C |
11: 97,131,757 (GRCm39) |
M366V |
probably damaging |
Het |
| Or5b12 |
A |
T |
19: 12,897,479 (GRCm39) |
S65T |
probably damaging |
Het |
| Platr25 |
T |
A |
13: 62,848,280 (GRCm39) |
H194L |
probably damaging |
Het |
| Plekhg4 |
T |
C |
8: 106,102,284 (GRCm39) |
I127T |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,652,314 (GRCm39) |
|
probably benign |
Het |
| Rarb |
A |
G |
14: 16,435,140 (GRCm38) |
V302A |
probably damaging |
Het |
| Rc3h1 |
A |
C |
1: 160,792,673 (GRCm39) |
T1037P |
probably damaging |
Het |
| Rnaset2a |
G |
A |
17: 8,356,760 (GRCm39) |
P102S |
probably damaging |
Het |
| Scn10a |
A |
C |
9: 119,459,160 (GRCm39) |
S1166R |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,352,170 (GRCm39) |
M380T |
possibly damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,923,519 (GRCm39) |
I75V |
probably benign |
Het |
| Slc35f5 |
G |
A |
1: 125,490,050 (GRCm39) |
A27T |
probably benign |
Het |
| Slc45a3 |
G |
A |
1: 131,905,714 (GRCm39) |
V246I |
probably benign |
Het |
| Slc7a14 |
G |
A |
3: 31,278,345 (GRCm39) |
T420I |
probably damaging |
Het |
| Slc9a9 |
A |
G |
9: 94,818,493 (GRCm39) |
T296A |
probably benign |
Het |
| Smyd2 |
G |
A |
1: 189,628,833 (GRCm39) |
H157Y |
probably damaging |
Het |
| Spata32 |
T |
A |
11: 103,100,677 (GRCm39) |
H30L |
probably benign |
Het |
| Srarp |
T |
C |
4: 141,160,344 (GRCm39) |
E163G |
possibly damaging |
Het |
| Tcstv2a |
A |
G |
13: 120,725,746 (GRCm39) |
T137A |
probably damaging |
Het |
| Tmed8 |
A |
G |
12: 87,220,938 (GRCm39) |
I216T |
probably damaging |
Het |
| Tnni3k |
A |
T |
3: 154,562,186 (GRCm39) |
L697Q |
probably damaging |
Het |
| Tra2b |
G |
A |
16: 22,065,940 (GRCm39) |
R286C |
unknown |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,506 (GRCm39) |
D34160G |
possibly damaging |
Het |
| Umad1 |
T |
A |
6: 8,373,931 (GRCm39) |
C36* |
probably null |
Het |
| Ush2a |
A |
T |
1: 188,638,676 (GRCm39) |
T4029S |
probably damaging |
Het |
| Usp9y |
C |
T |
Y: 1,316,978 (GRCm39) |
S1857N |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,154,767 (GRCm39) |
N517S |
probably damaging |
Het |
| Zfp583 |
G |
A |
7: 6,319,627 (GRCm39) |
P462S |
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 |
|
|
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 |
|
|
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'- CTTGGAGTTAGTACCCAGAAAGG -3'
(R):5'- ATCAATGCTCATGGCCTCCG -3'
Sequencing Primer
(F):5'- GGTACACTAAGAACTGGAGACCC -3'
(R):5'- CTGCAAGGAGAGTGGGTCTTCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation