Incidental Mutation 'IGL00663:Akr1c19'
| ID |
28811 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c19
|
| Ensembl Gene |
ENSMUSG00000071551 |
| Gene Name |
aldo-keto reductase family 1, member C19 |
| Synonyms |
1810010N06Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00663
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4283499-4298360 bp(+) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
C to T
at 4298128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081326]
[ENSMUST00000118663]
[ENSMUST00000129751]
|
| AlphaFold |
G3X9Y6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081326
|
| SMART Domains |
Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
1.4e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118663
|
| SMART Domains |
Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
9.9e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129751
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132531
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,977,916 (GRCm39) |
E498G |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,710,118 (GRCm39) |
Y298C |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,274,981 (GRCm39) |
I739T |
unknown |
Het |
| Efcab5 |
A |
C |
11: 77,027,862 (GRCm39) |
S490A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,579,235 (GRCm39) |
V1116A |
probably benign |
Het |
| Nkrf |
G |
T |
X: 36,152,752 (GRCm39) |
T510N |
possibly damaging |
Het |
| Rel |
A |
G |
11: 23,707,043 (GRCm39) |
M53T |
probably benign |
Het |
| Spata31 |
C |
T |
13: 65,070,602 (GRCm39) |
Q917* |
probably null |
Het |
| Traf3ip3 |
T |
A |
1: 192,869,446 (GRCm39) |
K246N |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 121,998,195 (GRCm39) |
T56A |
probably benign |
Het |
|
| Other mutations in Akr1c19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01522:Akr1c19
|
APN |
13 |
4,289,098 (GRCm39) |
splice site |
probably benign |
|
|
IGL01625:Akr1c19
|
APN |
13 |
4,283,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Akr1c19
|
APN |
13 |
4,287,112 (GRCm39) |
nonsense |
probably null |
|
|
IGL03094:Akr1c19
|
APN |
13 |
4,286,184 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03232:Akr1c19
|
APN |
13 |
4,288,462 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0504:Akr1c19
|
UTSW |
13 |
4,286,250 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0538:Akr1c19
|
UTSW |
13 |
4,287,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Akr1c19
|
UTSW |
13 |
4,288,459 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2068:Akr1c19
|
UTSW |
13 |
4,288,391 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3701:Akr1c19
|
UTSW |
13 |
4,293,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3893:Akr1c19
|
UTSW |
13 |
4,288,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Akr1c19
|
UTSW |
13 |
4,283,779 (GRCm39) |
nonsense |
probably null |
|
|
R4434:Akr1c19
|
UTSW |
13 |
4,292,615 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5545:Akr1c19
|
UTSW |
13 |
4,292,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5584:Akr1c19
|
UTSW |
13 |
4,293,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6988:Akr1c19
|
UTSW |
13 |
4,283,757 (GRCm39) |
start gained |
probably benign |
|
|
R7286:Akr1c19
|
UTSW |
13 |
4,296,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Akr1c19
|
UTSW |
13 |
4,287,069 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7879:Akr1c19
|
UTSW |
13 |
4,286,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Akr1c19
|
UTSW |
13 |
4,292,591 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8868:Akr1c19
|
UTSW |
13 |
4,293,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9248:Akr1c19
|
UTSW |
13 |
4,292,974 (GRCm39) |
missense |
probably benign |
|
|
R9447:Akr1c19
|
UTSW |
13 |
4,296,838 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation