Incidental Mutation 'IGL02277:Akr1c12'
| ID |
287371 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c12
|
| Ensembl Gene |
ENSMUSG00000021211 |
| Gene Name |
aldo-keto reductase family 1, member C12 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02277
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4318171-4329398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4322268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 258
(R258Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021632]
|
| AlphaFold |
Q9JLI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021632
AA Change: R258Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: R258Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
1.1e-63 |
PFAM |
|
| 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 |
| Akr1c20 |
T |
A |
13: 4,564,404 (GRCm39) |
E36D |
probably benign |
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 Akr1c12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01479:Akr1c12
|
APN |
13 |
4,322,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01603:Akr1c12
|
APN |
13 |
4,322,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01935:Akr1c12
|
APN |
13 |
4,322,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02066:Akr1c12
|
APN |
13 |
4,326,236 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02224:Akr1c12
|
APN |
13 |
4,329,289 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02425:Akr1c12
|
APN |
13 |
4,323,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Akr1c12
|
APN |
13 |
4,322,211 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL02959:Akr1c12
|
APN |
13 |
4,329,331 (GRCm39) |
missense |
probably benign |
|
|
IGL03075:Akr1c12
|
APN |
13 |
4,322,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1216:Akr1c12
|
UTSW |
13 |
4,326,322 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1302:Akr1c12
|
UTSW |
13 |
4,322,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1520:Akr1c12
|
UTSW |
13 |
4,326,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Akr1c12
|
UTSW |
13 |
4,326,247 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3944:Akr1c12
|
UTSW |
13 |
4,329,339 (GRCm39) |
missense |
probably benign |
|
|
R4671:Akr1c12
|
UTSW |
13 |
4,323,816 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6237:Akr1c12
|
UTSW |
13 |
4,325,767 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6266:Akr1c12
|
UTSW |
13 |
4,320,206 (GRCm39) |
missense |
probably benign |
|
|
R6467:Akr1c12
|
UTSW |
13 |
4,325,772 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6826:Akr1c12
|
UTSW |
13 |
4,325,733 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6865:Akr1c12
|
UTSW |
13 |
4,320,212 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6874:Akr1c12
|
UTSW |
13 |
4,322,959 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7574:Akr1c12
|
UTSW |
13 |
4,329,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Akr1c12
|
UTSW |
13 |
4,322,244 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8242:Akr1c12
|
UTSW |
13 |
4,322,269 (GRCm39) |
nonsense |
probably null |
|
|
R8295:Akr1c12
|
UTSW |
13 |
4,322,355 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8530:Akr1c12
|
UTSW |
13 |
4,320,160 (GRCm39) |
missense |
probably benign |
|
|
R8749:Akr1c12
|
UTSW |
13 |
4,320,155 (GRCm39) |
splice site |
probably benign |
|
|
R9420:Akr1c12
|
UTSW |
13 |
4,325,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Akr1c12
|
UTSW |
13 |
4,322,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation