Incidental Mutation 'R0742:Aldh3b2'
| ID |
70745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aldh3b2
|
| Ensembl Gene |
ENSMUSG00000075296 |
| Gene Name |
aldehyde dehydrogenase 3 family, member B2 |
| Synonyms |
C130048D07Rik |
| MMRRC Submission |
038923-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
4022328-4031646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4031034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 428
(G428S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115356
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000143380]
|
| AlphaFold |
E9Q3E1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143380
AA Change: G428S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115356
Gene: ENSMUSG00000075296
AA Change: G428S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldedh
|
6 |
441 |
1.2e-87 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,655,311 (GRCm39) |
D415E |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,666,189 (GRCm39) |
W12R |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,264,156 (GRCm39) |
L736P |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 127,949,535 (GRCm39) |
E374* |
probably null |
Het |
| Casd1 |
T |
C |
6: 4,635,888 (GRCm39) |
|
probably null |
Het |
| Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,605 (GRCm39) |
|
probably null |
Het |
| Copg2 |
T |
C |
6: 30,840,548 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
C |
T |
9: 109,384,624 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,718 (GRCm39) |
I533N |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
| Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,327 (GRCm39) |
L912Q |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,881,359 (GRCm39) |
D264G |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,532,725 (GRCm39) |
I995K |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,769,011 (GRCm39) |
I48T |
possibly damaging |
Het |
| Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
| Thoc2l |
G |
A |
5: 104,670,020 (GRCm39) |
S1514N |
probably benign |
Het |
| Tmprss13 |
T |
C |
9: 45,243,765 (GRCm39) |
F167S |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,260,739 (GRCm39) |
C1408Y |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,483,411 (GRCm39) |
M99T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,281 (GRCm39) |
T644S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,507 (GRCm39) |
S2306G |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
probably benign |
Het |
|
| Other mutations in Aldh3b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02888:Aldh3b2
|
APN |
19 |
4,030,083 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0242:Aldh3b2
|
UTSW |
19 |
4,029,414 (GRCm39) |
nonsense |
probably null |
|
|
R0242:Aldh3b2
|
UTSW |
19 |
4,029,414 (GRCm39) |
nonsense |
probably null |
|
|
R0924:Aldh3b2
|
UTSW |
19 |
4,029,350 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1531:Aldh3b2
|
UTSW |
19 |
4,027,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Aldh3b2
|
UTSW |
19 |
4,027,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1899:Aldh3b2
|
UTSW |
19 |
4,028,662 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1968:Aldh3b2
|
UTSW |
19 |
4,030,705 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2228:Aldh3b2
|
UTSW |
19 |
4,031,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4282:Aldh3b2
|
UTSW |
19 |
4,027,636 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4403:Aldh3b2
|
UTSW |
19 |
4,030,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Aldh3b2
|
UTSW |
19 |
4,031,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Aldh3b2
|
UTSW |
19 |
4,028,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Aldh3b2
|
UTSW |
19 |
4,029,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Aldh3b2
|
UTSW |
19 |
4,028,142 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7223:Aldh3b2
|
UTSW |
19 |
4,029,592 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8076:Aldh3b2
|
UTSW |
19 |
4,028,859 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8101:Aldh3b2
|
UTSW |
19 |
4,028,134 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8394:Aldh3b2
|
UTSW |
19 |
4,029,461 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8701:Aldh3b2
|
UTSW |
19 |
4,028,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9622:Aldh3b2
|
UTSW |
19 |
4,029,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGAATCAGATGTTGGAACGCAC -3'
(R):5'- ACTTGGAAGCCGCTGAAAGCTC -3'
Sequencing Primer
(F):5'- AGGCAACGATGGCTTCCTC -3'
(R):5'- CCGCTGAAAGCTCAGGTAG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation