Incidental Mutation 'IGL03176:Akr1a1'
| ID |
412009 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1a1
|
| Ensembl Gene |
ENSMUSG00000028692 |
| Gene Name |
aldo-keto reductase family 1, member A1 |
| Synonyms |
Akr1a4, 2610201A18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.471)
|
| Stock # |
IGL03176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116493707-116508871 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116496272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 213
(L213S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030455
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030455]
[ENSMUST00000128059]
|
| AlphaFold |
Q9JII6 |
| PDB Structure |
High resolution structure of mouse aldehyde reductase (AKR1a4) in its apo-form [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030455
AA Change: L213S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030455
Gene: ENSMUSG00000028692
AA Change: L213S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
16 |
294 |
1.4e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126146
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128010
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128059
|
| SMART Domains |
Protein: ENSMUSP00000114861
Gene: ENSMUSG00000028692
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
16 |
204 |
3.7e-43 |
PFAM |
|
| Coding Region Coverage |
|
| 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 aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member, also known as aldehyde reductase, is involved in the reduction of biogenic and xenobiotic aldehydes and is present in virtually every tissue. Multiple alternatively spliced transcript variants of this gene exist, all encoding the same protein. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased osteoporosis in response to pregnancy or castration in the absence of dietary ascorbate. Mice homozygous for a knock-out allele exhibit reduced asorbic acid levels and DL-glyceraldehyde, glucuronolactone and glucuronate reductase activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
C |
A |
1: 63,602,575 (GRCm39) |
P579Q |
probably damaging |
Het |
| Adam6a |
A |
G |
12: 113,509,822 (GRCm39) |
T732A |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,985,530 (GRCm39) |
N2271K |
possibly damaging |
Het |
| Ahnak |
T |
C |
19: 8,979,813 (GRCm39) |
S366P |
probably damaging |
Het |
| Ammecr1l |
T |
A |
18: 31,905,102 (GRCm39) |
D114E |
possibly damaging |
Het |
| Casq2 |
G |
T |
3: 102,033,970 (GRCm39) |
V167L |
possibly damaging |
Het |
| Cd164l2 |
T |
C |
4: 132,951,565 (GRCm39) |
I172T |
possibly damaging |
Het |
| Clec4g |
C |
T |
8: 3,768,441 (GRCm39) |
V97M |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,913,011 (GRCm39) |
N1068K |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,485,562 (GRCm39) |
M1V |
probably null |
Het |
| Eya3 |
A |
G |
4: 132,439,233 (GRCm39) |
E437G |
possibly damaging |
Het |
| Fbln1 |
C |
T |
15: 85,128,507 (GRCm39) |
T568I |
possibly damaging |
Het |
| Fcrl1 |
A |
T |
3: 87,298,564 (GRCm39) |
N353I |
probably damaging |
Het |
| Gm10272 |
A |
T |
10: 77,542,467 (GRCm39) |
H3L |
probably null |
Het |
| Gm15130 |
A |
G |
2: 110,978,846 (GRCm39) |
S32P |
unknown |
Het |
| Gm20379 |
C |
A |
13: 92,442,529 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,935,559 (GRCm39) |
Y644N |
probably damaging |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,106 (GRCm39) |
|
probably benign |
Het |
| Man2c1 |
A |
G |
9: 57,048,030 (GRCm39) |
N739D |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,836,481 (GRCm39) |
T49M |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,562,520 (GRCm39) |
|
probably null |
Het |
| Ptgr2 |
C |
T |
12: 84,354,668 (GRCm39) |
T283I |
probably damaging |
Het |
| Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
| Rnd1 |
A |
T |
15: 98,568,569 (GRCm39) |
L203H |
probably damaging |
Het |
| Rnf186 |
A |
G |
4: 138,695,231 (GRCm39) |
N257S |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,328,357 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,756,909 (GRCm39) |
Q1582* |
probably null |
Het |
| Sntg2 |
G |
A |
12: 30,317,022 (GRCm39) |
|
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,825 (GRCm39) |
D789G |
probably benign |
Het |
| Strc |
A |
C |
2: 121,202,661 (GRCm39) |
L1168R |
probably damaging |
Het |
| Tmtc3 |
A |
T |
10: 100,301,993 (GRCm39) |
S319T |
possibly damaging |
Het |
| Vmn1r88 |
A |
T |
7: 12,911,779 (GRCm39) |
D45V |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,801,533 (GRCm39) |
F3531I |
probably benign |
Het |
|
| Other mutations in Akr1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02927:Akr1a1
|
APN |
4 |
116,495,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Akr1a1
|
APN |
4 |
116,495,014 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0480:Akr1a1
|
UTSW |
4 |
116,497,044 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0972:Akr1a1
|
UTSW |
4 |
116,497,204 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1649:Akr1a1
|
UTSW |
4 |
116,495,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1711:Akr1a1
|
UTSW |
4 |
116,495,171 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1727:Akr1a1
|
UTSW |
4 |
116,498,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Akr1a1
|
UTSW |
4 |
116,493,850 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4653:Akr1a1
|
UTSW |
4 |
116,495,156 (GRCm39) |
unclassified |
probably benign |
|
|
R5377:Akr1a1
|
UTSW |
4 |
116,497,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7386:Akr1a1
|
UTSW |
4 |
116,498,251 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7458:Akr1a1
|
UTSW |
4 |
116,495,014 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8253:Akr1a1
|
UTSW |
4 |
116,493,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8888:Akr1a1
|
UTSW |
4 |
116,498,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Akr1a1
|
UTSW |
4 |
116,498,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation