Incidental Mutation 'R1323:Akr1e1'
ID |
172463 |
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: 0.099)
|
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: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.7%
|
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: 23 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 |
Ankrd44 |
A |
G |
1: 54,805,609 (GRCm39) |
|
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 |
Emsy |
T |
C |
7: 98,259,864 (GRCm39) |
|
probably benign |
Het |
Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
Firrm |
C |
A |
1: 163,783,030 (GRCm39) |
|
probably benign |
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 |
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 |
2014-04-24 |