Incidental Mutation 'IGL01093:Akr1c21'
| ID |
52559 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c21
|
| Ensembl Gene |
ENSMUSG00000021207 |
| Gene Name |
aldo-keto reductase family 1, member C21 |
| Synonyms |
9430025F20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01093
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4624074-4636540 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 4631139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021628]
[ENSMUST00000223285]
|
| AlphaFold |
Q91WR5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021628
|
| SMART Domains |
Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
2.2e-55 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223285
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
G |
18: 65,482,400 (GRCm39) |
L69P |
probably damaging |
Het |
| C3 |
G |
T |
17: 57,530,949 (GRCm39) |
P384Q |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,581 (GRCm39) |
E953G |
probably damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,619,156 (GRCm39) |
T281A |
probably benign |
Het |
| Dnmt1 |
C |
T |
9: 20,821,081 (GRCm39) |
E1269K |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,145,611 (GRCm39) |
R1012G |
probably benign |
Het |
| Fbxw24 |
T |
A |
9: 109,434,041 (GRCm39) |
Q423L |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,678 (GRCm39) |
S569P |
unknown |
Het |
| Ier5 |
A |
G |
1: 154,975,139 (GRCm39) |
I13T |
probably damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,337 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,729 (GRCm39) |
V139A |
probably benign |
Het |
| Naca |
A |
G |
10: 127,883,982 (GRCm39) |
S2138G |
probably damaging |
Het |
| Or1j15 |
T |
G |
2: 36,458,838 (GRCm39) |
V76G |
probably damaging |
Het |
| Or5p59 |
T |
A |
7: 107,702,851 (GRCm39) |
S112T |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,477 (GRCm39) |
M258L |
possibly damaging |
Het |
| Or6c66 |
A |
C |
10: 129,461,432 (GRCm39) |
F166C |
probably damaging |
Het |
| Or6c74 |
A |
G |
10: 129,869,761 (GRCm39) |
T89A |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,958,089 (GRCm39) |
T813A |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,345 (GRCm39) |
T696A |
probably benign |
Het |
| Rif1 |
T |
G |
2: 51,985,960 (GRCm39) |
H648Q |
probably damaging |
Het |
| Secisbp2l |
C |
A |
2: 125,582,245 (GRCm39) |
K1070N |
probably benign |
Het |
| Spock3 |
G |
A |
8: 63,801,993 (GRCm39) |
R327Q |
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,768,114 (GRCm39) |
I795T |
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,414,726 (GRCm39) |
I1128V |
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,723,081 (GRCm39) |
D174V |
probably damaging |
Het |
| Xpnpep3 |
T |
A |
15: 81,320,969 (GRCm39) |
Y283N |
possibly damaging |
Het |
| Zfp9 |
C |
T |
6: 118,442,800 (GRCm39) |
A99T |
probably benign |
Het |
| Zfp944 |
A |
G |
17: 22,562,615 (GRCm39) |
|
probably benign |
Het |
| Zscan4c |
G |
A |
7: 10,743,544 (GRCm39) |
C381Y |
probably benign |
Het |
|
| Other mutations in Akr1c21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00645:Akr1c21
|
APN |
13 |
4,626,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01408:Akr1c21
|
APN |
13 |
4,627,431 (GRCm39) |
missense |
probably benign |
|
|
IGL02470:Akr1c21
|
APN |
13 |
4,627,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02683:Akr1c21
|
APN |
13 |
4,626,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02738:Akr1c21
|
APN |
13 |
4,630,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03126:Akr1c21
|
APN |
13 |
4,627,457 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03365:Akr1c21
|
APN |
13 |
4,633,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0166:Akr1c21
|
UTSW |
13 |
4,631,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Akr1c21
|
UTSW |
13 |
4,631,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Akr1c21
|
UTSW |
13 |
4,626,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1069:Akr1c21
|
UTSW |
13 |
4,625,333 (GRCm39) |
splice site |
probably benign |
|
|
R1168:Akr1c21
|
UTSW |
13 |
4,633,836 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1617:Akr1c21
|
UTSW |
13 |
4,626,351 (GRCm39) |
splice site |
probably null |
|
|
R1686:Akr1c21
|
UTSW |
13 |
4,627,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1694:Akr1c21
|
UTSW |
13 |
4,625,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1753:Akr1c21
|
UTSW |
13 |
4,627,134 (GRCm39) |
nonsense |
probably null |
|
|
R1977:Akr1c21
|
UTSW |
13 |
4,624,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Akr1c21
|
UTSW |
13 |
4,624,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Akr1c21
|
UTSW |
13 |
4,626,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2198:Akr1c21
|
UTSW |
13 |
4,627,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2925:Akr1c21
|
UTSW |
13 |
4,626,349 (GRCm39) |
splice site |
probably null |
|
|
R4965:Akr1c21
|
UTSW |
13 |
4,630,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Akr1c21
|
UTSW |
13 |
4,625,231 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6381:Akr1c21
|
UTSW |
13 |
4,624,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6711:Akr1c21
|
UTSW |
13 |
4,627,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Akr1c21
|
UTSW |
13 |
4,625,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6998:Akr1c21
|
UTSW |
13 |
4,633,850 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7253:Akr1c21
|
UTSW |
13 |
4,627,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7475:Akr1c21
|
UTSW |
13 |
4,626,318 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8389:Akr1c21
|
UTSW |
13 |
4,626,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8391:Akr1c21
|
UTSW |
13 |
4,626,278 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2013-06-21 |
Incidental Mutation