Incidental Mutation 'IGL02470:Akr1c21'
| ID |
294691 |
| 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 # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4624074-4636540 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4627406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 167
(N167Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021628]
[ENSMUST00000223285]
|
| AlphaFold |
Q91WR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021628
AA Change: N167Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: N167Y
| 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 damaging
Transcript: ENSMUST00000223285
AA Change: N167Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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 |
|---|
| Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
| Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
| Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
IGL01093:Akr1c21
|
APN |
13 |
4,631,139 (GRCm39) |
splice site |
probably benign |
|
|
IGL01408:Akr1c21
|
APN |
13 |
4,627,431 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation