Incidental Mutation 'IGL01930:Akr1c20'
| ID |
180418 |
| 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 # |
IGL01930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4536848-4573344 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 4557647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078239]
[ENSMUST00000080361]
|
| AlphaFold |
Q8VC77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078239
|
| SMART Domains |
Protein: ENSMUSP00000077363
Gene: ENSMUSG00000054757
| 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
|
| SMART Domains |
Protein: ENSMUSP00000079232
Gene: ENSMUSG00000054757
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.8e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221564
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433N12Rik |
C |
T |
9: 3,134,875 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf3 |
A |
G |
8: 123,507,085 (GRCm39) |
Y126C |
probably benign |
Het |
| Cdan1 |
T |
C |
2: 120,557,063 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpg |
C |
T |
19: 6,361,398 (GRCm39) |
A308V |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,241,611 (GRCm39) |
I318V |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,940,645 (GRCm39) |
M422V |
possibly damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,189,583 (GRCm39) |
|
probably null |
Het |
| Erbin |
G |
A |
13: 103,977,680 (GRCm39) |
L626F |
probably damaging |
Het |
| Fa2h |
A |
T |
8: 112,075,936 (GRCm39) |
V229E |
possibly damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,036,397 (GRCm39) |
H193Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gpr162 |
A |
G |
6: 124,838,575 (GRCm39) |
L25P |
possibly damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,529,475 (GRCm39) |
T52A |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,034,286 (GRCm39) |
V668D |
probably damaging |
Het |
| Or10j2 |
T |
C |
1: 173,098,177 (GRCm39) |
V145A |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,516,751 (GRCm39) |
T1042A |
probably damaging |
Het |
| Rasgrf2 |
A |
G |
13: 92,130,857 (GRCm39) |
S735P |
probably damaging |
Het |
| Serpina3n |
T |
A |
12: 104,375,231 (GRCm39) |
L101H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,145,978 (GRCm39) |
D1674G |
probably damaging |
Het |
| Sval3 |
A |
G |
6: 41,949,455 (GRCm39) |
N98D |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,901 (GRCm39) |
R449C |
possibly damaging |
Het |
| Tm7sf3 |
A |
C |
6: 146,512,431 (GRCm39) |
I321S |
possibly damaging |
Het |
| Tmem273 |
G |
A |
14: 32,538,814 (GRCm39) |
E92K |
probably benign |
Het |
| Trappc13 |
A |
G |
13: 104,284,586 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr76 |
A |
G |
2: 121,341,303 (GRCm39) |
D116G |
possibly damaging |
Het |
| Zscan18 |
T |
C |
7: 12,509,275 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02277:Akr1c20
|
APN |
13 |
4,564,404 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2014-05-07 |
Incidental Mutation