Incidental Mutation 'IGL02277:Akr1c20'
| ID |
287362 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c20
|
| Ensembl Gene |
ENSMUSG00000054757 |
| Gene Name |
aldo-keto reductase family 1, member C20 |
| Synonyms |
2610528B18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02277
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4536848-4573344 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4564404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 36
(E36D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078239]
[ENSMUST00000080361]
|
| AlphaFold |
Q8VC77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078239
AA Change: E36D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000077363
Gene: ENSMUSG00000054757
AA Change: E36D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
98 |
4.7e-12 |
PFAM |
|
Pfam:Aldo_ket_red
|
87 |
260 |
6e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080361
AA Change: E36D
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000079232
Gene: ENSMUSG00000054757
AA Change: E36D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.8e-55 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221564
AA Change: E35D
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
T |
9: 57,165,708 (GRCm39) |
G222D |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,650,485 (GRCm39) |
D625G |
probably benign |
Het |
| Akr1c12 |
C |
T |
13: 4,322,268 (GRCm39) |
R258Q |
probably damaging |
Het |
| Csn2 |
A |
G |
5: 87,845,881 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,497,176 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,609,082 (GRCm39) |
I259V |
probably damaging |
Het |
| Dpysl5 |
A |
G |
5: 30,946,125 (GRCm39) |
I344V |
probably damaging |
Het |
| Fcrl6 |
A |
G |
1: 172,426,686 (GRCm39) |
C87R |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,735,977 (GRCm39) |
E524G |
probably benign |
Het |
| Gabpb2 |
A |
G |
3: 95,096,595 (GRCm39) |
V270A |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,218,462 (GRCm39) |
I804F |
possibly damaging |
Het |
| Gm5591 |
T |
C |
7: 38,219,856 (GRCm39) |
D339G |
probably damaging |
Het |
| Ighv2-5 |
T |
A |
12: 113,649,127 (GRCm39) |
T109S |
possibly damaging |
Het |
| Ints4 |
T |
A |
7: 97,136,665 (GRCm39) |
L119Q |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,388,028 (GRCm39) |
D386E |
possibly damaging |
Het |
| Kdm3b |
A |
T |
18: 34,956,717 (GRCm39) |
H1224L |
probably damaging |
Het |
| Macf1 |
C |
A |
4: 123,380,497 (GRCm39) |
R1523L |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,798,835 (GRCm39) |
|
probably null |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Or1q1 |
G |
A |
2: 36,887,196 (GRCm39) |
|
probably null |
Het |
| Or2y8 |
T |
A |
11: 52,036,189 (GRCm39) |
H56L |
probably damaging |
Het |
| Or4f56 |
T |
A |
2: 111,703,925 (GRCm39) |
I92F |
possibly damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,941,201 (GRCm39) |
L1660Q |
probably damaging |
Het |
| Ppp1r17 |
A |
G |
6: 56,003,123 (GRCm39) |
D71G |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,389,301 (GRCm39) |
Q1264R |
probably damaging |
Het |
| Rgl3 |
C |
T |
9: 21,885,405 (GRCm39) |
V642M |
probably damaging |
Het |
| Slc26a2 |
T |
C |
18: 61,332,052 (GRCm39) |
T460A |
probably damaging |
Het |
| Smtnl2 |
T |
A |
11: 72,282,199 (GRCm39) |
M395L |
probably damaging |
Het |
| St3gal5 |
A |
T |
6: 72,119,184 (GRCm39) |
T99S |
possibly damaging |
Het |
| Unc5b |
T |
C |
10: 60,610,521 (GRCm39) |
N421S |
probably benign |
Het |
| Zcchc17 |
G |
A |
4: 130,221,014 (GRCm39) |
T179M |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,432,746 (GRCm39) |
S79P |
probably damaging |
Het |
|
| Other mutations in Akr1c20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00834:Akr1c20
|
APN |
13 |
4,562,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01799:Akr1c20
|
APN |
13 |
4,564,257 (GRCm39) |
splice site |
probably null |
|
|
IGL01930:Akr1c20
|
APN |
13 |
4,557,647 (GRCm39) |
intron |
probably benign |
|
|
IGL02811:Akr1c20
|
APN |
13 |
4,562,682 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03349:Akr1c20
|
APN |
13 |
4,558,249 (GRCm39) |
nonsense |
probably null |
|
|
R0165:Akr1c20
|
UTSW |
13 |
4,573,295 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0193:Akr1c20
|
UTSW |
13 |
4,561,292 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Akr1c20
|
UTSW |
13 |
4,537,207 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1248:Akr1c20
|
UTSW |
13 |
4,564,399 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1396:Akr1c20
|
UTSW |
13 |
4,557,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1735:Akr1c20
|
UTSW |
13 |
4,537,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2325:Akr1c20
|
UTSW |
13 |
4,573,295 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2359:Akr1c20
|
UTSW |
13 |
4,573,276 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2878:Akr1c20
|
UTSW |
13 |
4,557,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3712:Akr1c20
|
UTSW |
13 |
4,560,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4512:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4514:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4544:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4545:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Akr1c20
|
UTSW |
13 |
4,558,174 (GRCm39) |
nonsense |
probably null |
|
|
R5301:Akr1c20
|
UTSW |
13 |
4,573,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5826:Akr1c20
|
UTSW |
13 |
4,560,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7122:Akr1c20
|
UTSW |
13 |
4,561,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7661:Akr1c20
|
UTSW |
13 |
4,558,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7832:Akr1c20
|
UTSW |
13 |
4,562,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8914:Akr1c20
|
UTSW |
13 |
4,561,215 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9764:Akr1c20
|
UTSW |
13 |
4,564,388 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1177:Akr1c20
|
UTSW |
13 |
4,573,243 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation