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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4574075-4586541 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4577407 bp (GRCm38)
|
| 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 |
|---|
| 0610010F05Rik |
A |
T |
11: 23,615,222 (GRCm38) |
M255K |
probably damaging |
Het |
| Adcy10 |
A |
G |
1: 165,567,726 (GRCm38) |
Y1422C |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,183,194 (GRCm38) |
K727I |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,036,748 (GRCm38) |
|
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,042,803 (GRCm38) |
F17I |
unknown |
Het |
| Best1 |
T |
C |
19: 9,992,976 (GRCm38) |
S91G |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 59,001,899 (GRCm38) |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,798,729 (GRCm38) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,401,492 (GRCm38) |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 71,955,082 (GRCm38) |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,175,747 (GRCm38) |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,255,012 (GRCm38) |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,839,460 (GRCm38) |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,461,720 (GRCm38) |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 39,036,557 (GRCm38) |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,527,513 (GRCm38) |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 84,921,212 (GRCm38) |
G511V |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,704,621 (GRCm38) |
I424M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 120,168,006 (GRCm38) |
T68A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,218,046 (GRCm38) |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 172,082,599 (GRCm38) |
|
probably null |
Het |
| Olfr1089 |
A |
T |
2: 86,733,585 (GRCm38) |
V9E |
probably damaging |
Het |
| Olfr340 |
A |
G |
2: 36,452,597 (GRCm38) |
D4G |
probably benign |
Het |
| Phip |
A |
T |
9: 82,890,454 (GRCm38) |
V1075D |
possibly damaging |
Het |
| Serpinb1a |
C |
T |
13: 32,850,393 (GRCm38) |
S5N |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,853,170 (GRCm38) |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,590,228 (GRCm38) |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,820,384 (GRCm38) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,914,617 (GRCm38) |
G997R |
probably damaging |
Het |
|
| Other mutations in Akr1c21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00645:Akr1c21
|
APN |
13 |
4,576,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01093:Akr1c21
|
APN |
13 |
4,581,140 (GRCm38) |
splice site |
probably benign |
|
|
IGL01408:Akr1c21
|
APN |
13 |
4,577,432 (GRCm38) |
missense |
probably benign |
|
|
IGL02683:Akr1c21
|
APN |
13 |
4,576,313 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02738:Akr1c21
|
APN |
13 |
4,580,301 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03126:Akr1c21
|
APN |
13 |
4,577,458 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL03365:Akr1c21
|
APN |
13 |
4,583,852 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0166:Akr1c21
|
UTSW |
13 |
4,581,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0391:Akr1c21
|
UTSW |
13 |
4,581,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0505:Akr1c21
|
UTSW |
13 |
4,576,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1069:Akr1c21
|
UTSW |
13 |
4,575,334 (GRCm38) |
splice site |
probably benign |
|
|
R1168:Akr1c21
|
UTSW |
13 |
4,583,837 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1617:Akr1c21
|
UTSW |
13 |
4,576,352 (GRCm38) |
splice site |
probably null |
|
|
R1686:Akr1c21
|
UTSW |
13 |
4,577,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1694:Akr1c21
|
UTSW |
13 |
4,575,178 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1753:Akr1c21
|
UTSW |
13 |
4,577,135 (GRCm38) |
nonsense |
probably null |
|
|
R1977:Akr1c21
|
UTSW |
13 |
4,574,212 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2005:Akr1c21
|
UTSW |
13 |
4,574,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2036:Akr1c21
|
UTSW |
13 |
4,576,306 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2198:Akr1c21
|
UTSW |
13 |
4,577,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2925:Akr1c21
|
UTSW |
13 |
4,576,350 (GRCm38) |
splice site |
probably null |
|
|
R4965:Akr1c21
|
UTSW |
13 |
4,580,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6245:Akr1c21
|
UTSW |
13 |
4,575,232 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6381:Akr1c21
|
UTSW |
13 |
4,574,184 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6711:Akr1c21
|
UTSW |
13 |
4,577,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6843:Akr1c21
|
UTSW |
13 |
4,575,214 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6998:Akr1c21
|
UTSW |
13 |
4,583,851 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7253:Akr1c21
|
UTSW |
13 |
4,577,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7475:Akr1c21
|
UTSW |
13 |
4,576,319 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8389:Akr1c21
|
UTSW |
13 |
4,576,279 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8391:Akr1c21
|
UTSW |
13 |
4,576,279 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation