Incidental Mutation 'IGL03232:Akr1c19'
| ID |
413936 |
| 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 # |
IGL03232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4283499-4298360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4288462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 147
(T147A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081326]
[ENSMUST00000118663]
|
| AlphaFold |
G3X9Y6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081326
AA Change: T147A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: T147A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
1.4e-65 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118663
AA Change: T147A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: T147A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
9.9e-67 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bdp1 |
A |
G |
13: 100,187,989 (GRCm39) |
L1532S |
probably damaging |
Het |
| Btbd3 |
G |
A |
2: 138,126,063 (GRCm39) |
A416T |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,369,104 (GRCm39) |
R311H |
probably damaging |
Het |
| Cers2 |
T |
G |
3: 95,227,468 (GRCm39) |
V32G |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,111,751 (GRCm39) |
R277* |
probably null |
Het |
| Cog4 |
A |
G |
8: 111,607,314 (GRCm39) |
|
probably null |
Het |
| Crybg3 |
C |
A |
16: 59,350,731 (GRCm39) |
G870C |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,011,247 (GRCm39) |
H1135Y |
probably benign |
Het |
| Esr1 |
A |
C |
10: 4,919,270 (GRCm39) |
K453N |
probably damaging |
Het |
| Gprc5d |
T |
C |
6: 135,093,662 (GRCm39) |
I82V |
probably benign |
Het |
| H3c3 |
T |
G |
13: 23,929,164 (GRCm39) |
E106A |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,646,103 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,496,446 (GRCm39) |
T17A |
probably damaging |
Het |
| Lrp1 |
C |
T |
10: 127,375,245 (GRCm39) |
A4452T |
probably damaging |
Het |
| Morc1 |
A |
G |
16: 48,451,165 (GRCm39) |
E948G |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,855,494 (GRCm39) |
K943E |
probably benign |
Het |
| Or5b109 |
T |
A |
19: 13,212,341 (GRCm39) |
C242* |
probably null |
Het |
| Or5b12b |
C |
A |
19: 12,861,636 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p73 |
A |
G |
7: 108,064,812 (GRCm39) |
T94A |
probably benign |
Het |
| Rab21 |
T |
C |
10: 115,130,767 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
C |
5: 30,461,259 (GRCm39) |
F140S |
probably damaging |
Het |
| Serpini1 |
T |
C |
3: 75,545,317 (GRCm39) |
|
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,772,251 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
T |
C |
15: 85,013,921 (GRCm39) |
I83M |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,715,907 (GRCm39) |
Y1061C |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,911,675 (GRCm39) |
M1K |
probably null |
Het |
| Ubqlnl |
A |
G |
7: 103,797,836 (GRCm39) |
S554P |
possibly damaging |
Het |
|
| Other mutations in Akr1c19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00663:Akr1c19
|
APN |
13 |
4,298,128 (GRCm39) |
utr 3 prime |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation