Incidental Mutation 'R1323:Akr1e1'
| ID |
500211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akr1e1
|
| Ensembl Gene |
ENSMUSG00000045410 |
| Gene Name |
aldo-keto reductase family 1, member E1 |
| Synonyms |
1810061I10Rik |
| MMRRC Submission |
039389-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R1323 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
4641122-4659163 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4657547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 17
(G17E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091848]
[ENSMUST00000110691]
|
| AlphaFold |
Q9DCT1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091848
AA Change: G17E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089459
Gene: ENSMUSG00000045410
AA Change: G17E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
6 |
279 |
1.4e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110691
|
| SMART Domains |
Protein: ENSMUSP00000106319
Gene: ENSMUSG00000045410
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
9 |
223 |
5.8e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220540
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222043
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 96.6%
- 10x: 89.2%
- 20x: 70.7%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
| Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
| Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
| Frzb |
G |
A |
2: 80,243,720 (GRCm39) |
P320S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,437,278 (GRCm39) |
P10L |
possibly damaging |
Het |
| Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
| H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
A |
G |
9: 15,774,432 (GRCm39) |
F209S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,868,810 (GRCm39) |
|
probably null |
Het |
| S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Zfp600 |
A |
G |
4: 146,133,261 (GRCm39) |
Y643C |
probably damaging |
Het |
|
| Other mutations in Akr1e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02667:Akr1e1
|
APN |
13 |
4,645,666 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCCTGCGGAAGTGGAGAAG -3'
(R):5'- TGTAATCGGGAAGCACAACACAGC -3'
Sequencing Primer
(F):5'- GTGGAGAAGCCTTACCTTACTGAC -3'
(R):5'- GCACCCTGTTTCCAGAATGAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation