Incidental Mutation 'IGL02224:Akr1c12'
| ID |
285254 |
| 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 # |
IGL02224
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4318171-4329398 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4329289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 23
(T23S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021632]
|
| AlphaFold |
Q9JLI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021632
AA Change: T23S
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021632
Gene: ENSMUSG00000021211
AA Change: T23S
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
G |
A |
7: 80,726,616 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,361,810 (GRCm39) |
|
probably benign |
Het |
| Atr |
C |
T |
9: 95,760,682 (GRCm39) |
R1051C |
probably damaging |
Het |
| B4galt2 |
T |
C |
4: 117,734,110 (GRCm39) |
D309G |
probably benign |
Het |
| C130026L21Rik |
A |
G |
5: 111,730,291 (GRCm39) |
|
noncoding transcript |
Het |
| Cadm3 |
A |
G |
1: 173,165,628 (GRCm39) |
I344T |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,924,318 (GRCm39) |
T370A |
probably benign |
Het |
| Col6a5 |
A |
T |
9: 105,741,534 (GRCm39) |
S2462T |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,937,332 (GRCm39) |
N739Y |
probably benign |
Het |
| Ensa |
T |
C |
3: 95,535,990 (GRCm39) |
S108P |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,545,281 (GRCm39) |
|
probably null |
Het |
| Fbp1 |
T |
A |
13: 63,035,821 (GRCm39) |
T13S |
probably damaging |
Het |
| Flrt2 |
C |
A |
12: 95,746,802 (GRCm39) |
T380K |
possibly damaging |
Het |
| Gpatch11 |
T |
C |
17: 79,148,522 (GRCm39) |
|
probably benign |
Het |
| Hagh |
A |
G |
17: 25,071,861 (GRCm39) |
D29G |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,600,831 (GRCm39) |
Q513R |
unknown |
Het |
| Hoxb8 |
T |
C |
11: 96,173,981 (GRCm39) |
S65P |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,169,271 (GRCm39) |
|
probably benign |
Het |
| Lbp |
A |
G |
2: 158,148,669 (GRCm39) |
N27S |
probably damaging |
Het |
| Msh4 |
G |
A |
3: 153,595,822 (GRCm39) |
T76I |
possibly damaging |
Het |
| Nfat5 |
T |
C |
8: 108,071,447 (GRCm39) |
V281A |
probably benign |
Het |
| Or10ag53 |
C |
T |
2: 87,082,821 (GRCm39) |
S180F |
probably benign |
Het |
| Or13c25 |
A |
T |
4: 52,911,392 (GRCm39) |
V134D |
probably damaging |
Het |
| Or4p20 |
C |
T |
2: 88,254,052 (GRCm39) |
|
probably null |
Het |
| Or5b106 |
T |
A |
19: 13,123,120 (GRCm39) |
K301M |
probably damaging |
Het |
| Or5w16 |
T |
A |
2: 87,576,757 (GRCm39) |
C72* |
probably null |
Het |
| Phf11b |
A |
T |
14: 59,563,515 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
G |
7: 115,962,575 (GRCm39) |
|
probably benign |
Het |
| Prdx1 |
T |
A |
4: 116,549,064 (GRCm39) |
F66L |
probably damaging |
Het |
| Prss39 |
A |
G |
1: 34,538,459 (GRCm39) |
H108R |
probably damaging |
Het |
| Spta1 |
C |
A |
1: 174,045,255 (GRCm39) |
|
probably benign |
Het |
| Tmem87b |
A |
G |
2: 128,676,127 (GRCm39) |
I297V |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,068 (GRCm39) |
R229G |
probably damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,174,960 (GRCm39) |
R524* |
probably null |
Het |
| Washc2 |
T |
A |
6: 116,197,530 (GRCm39) |
D254E |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp773 |
T |
C |
7: 7,135,975 (GRCm39) |
H207R |
probably benign |
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 |
|
IGL02277:Akr1c12
|
APN |
13 |
4,322,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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