Incidental Mutation 'IGL02667:Akr1e1'
| ID |
302765 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1e1
|
| Ensembl Gene |
ENSMUSG00000045410 |
| Gene Name |
aldo-keto reductase family 1, member E1 |
| Synonyms |
1810061I10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL02667
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4641122-4659163 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4645666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 174
(P174L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091848]
[ENSMUST00000110691]
|
| AlphaFold |
Q9DCT1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091848
AA Change: P230L
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000089459
Gene: ENSMUSG00000045410
AA Change: P230L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
6 |
279 |
1.4e-52 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110691
AA Change: P174L
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106319
Gene: ENSMUSG00000045410
AA Change: P174L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
9 |
223 |
5.8e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the aldo-keto reductase superfamily. Members in this family are characterized by their structure (evolutionarily highly conserved TIM barrel) and function (NAD(P)H-dependent oxido-reduction of carbonyl groups). Transcripts of this gene have been reported in specimens of human testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6530409C15Rik |
A |
G |
6: 28,217,670 (GRCm39) |
|
noncoding transcript |
Het |
| Arf5 |
C |
A |
6: 28,425,198 (GRCm39) |
N95K |
probably damaging |
Het |
| Atl3 |
T |
C |
19: 7,486,781 (GRCm39) |
F39L |
possibly damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Cyp2a12 |
T |
C |
7: 26,730,583 (GRCm39) |
S183P |
probably damaging |
Het |
| Dicer1 |
T |
A |
12: 104,681,165 (GRCm39) |
R449S |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,956,534 (GRCm39) |
I736T |
probably benign |
Het |
| Eny2 |
T |
A |
15: 44,292,984 (GRCm39) |
M12K |
possibly damaging |
Het |
| Fbxl21 |
C |
T |
13: 56,684,942 (GRCm39) |
R349C |
probably benign |
Het |
| Gstm2 |
A |
G |
3: 107,893,424 (GRCm39) |
L13P |
probably damaging |
Het |
| Gucy2g |
G |
A |
19: 55,194,609 (GRCm39) |
T936M |
possibly damaging |
Het |
| Mbp |
G |
T |
18: 82,572,740 (GRCm39) |
K12N |
probably damaging |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,748,678 (GRCm39) |
|
probably benign |
Het |
| Nr2f2 |
T |
C |
7: 70,007,733 (GRCm39) |
S117G |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,907,947 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,113,325 (GRCm39) |
F1504L |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,111 (GRCm39) |
W239R |
probably damaging |
Het |
| Setd1b |
T |
A |
5: 123,295,560 (GRCm39) |
S1043T |
unknown |
Het |
| Tgfbrap1 |
T |
C |
1: 43,106,780 (GRCm39) |
I298V |
probably benign |
Het |
| Tmem190 |
T |
A |
7: 4,786,157 (GRCm39) |
D20E |
probably benign |
Het |
| Tph2 |
A |
T |
10: 114,915,950 (GRCm39) |
C408S |
probably benign |
Het |
| Trmt44 |
A |
C |
5: 35,728,396 (GRCm39) |
Y295D |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,771,776 (GRCm39) |
R621H |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,415,905 (GRCm39) |
|
probably benign |
Het |
| Ubn1 |
A |
G |
16: 4,880,463 (GRCm39) |
E134G |
probably damaging |
Het |
|
| Other mutations in Akr1e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02862:Akr1e1
|
APN |
13 |
4,659,092 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02987:Akr1e1
|
APN |
13 |
4,643,591 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02995:Akr1e1
|
APN |
13 |
4,647,477 (GRCm39) |
splice site |
probably benign |
|
|
R0894:Akr1e1
|
UTSW |
13 |
4,645,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1323:Akr1e1
|
UTSW |
13 |
4,657,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1323:Akr1e1
|
UTSW |
13 |
4,657,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Akr1e1
|
UTSW |
13 |
4,645,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2002:Akr1e1
|
UTSW |
13 |
4,657,564 (GRCm39) |
intron |
probably benign |
|
|
R2872:Akr1e1
|
UTSW |
13 |
4,652,683 (GRCm39) |
synonymous |
silent |
|
|
R6170:Akr1e1
|
UTSW |
13 |
4,652,723 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6185:Akr1e1
|
UTSW |
13 |
4,651,252 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6930:Akr1e1
|
UTSW |
13 |
4,652,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Akr1e1
|
UTSW |
13 |
4,645,679 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8447:Akr1e1
|
UTSW |
13 |
4,648,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Akr1e1
|
UTSW |
13 |
4,652,678 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9540:Akr1e1
|
UTSW |
13 |
4,657,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Akr1e1
|
UTSW |
13 |
4,645,125 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2015-04-16 |
Incidental Mutation