Incidental Mutation 'IGL01553:Akr1c13'
| ID |
90641 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Akr1c13
|
| Ensembl Gene |
ENSMUSG00000021213 |
| Gene Name |
aldo-keto reductase family 1, member C13 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL01553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
4241166-4255603 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4244774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 117
(H117Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021634
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021634]
[ENSMUST00000128892]
|
| AlphaFold |
Q8VC28 |
| PDB Structure |
Crystal structure of Putative reductase (NP_038806.2) from MUS MUSCULUS at 1.18 A resolution [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021634
AA Change: H117Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213
AA Change: H117Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aldo_ket_red
|
18 |
301 |
7.8e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128892
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140971
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap44 |
T |
C |
11: 64,943,944 (GRCm39) |
N188S |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
| Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
| Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
C |
T |
13: 49,618,252 (GRCm39) |
V218M |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
| Gabra6 |
T |
A |
11: 42,206,023 (GRCm39) |
T278S |
probably damaging |
Het |
| Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,808,279 (GRCm39) |
D171G |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
| Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
| Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
| Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
| Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
| Niban3 |
G |
T |
8: 72,055,546 (GRCm39) |
A319S |
possibly damaging |
Het |
| Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
| Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
| Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
| Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
| Serpinb6b |
T |
C |
13: 33,158,931 (GRCm39) |
L44P |
probably damaging |
Het |
| Tfrc |
T |
C |
16: 32,447,403 (GRCm39) |
V673A |
probably benign |
Het |
| Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
| Other mutations in Akr1c13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01387:Akr1c13
|
APN |
13 |
4,247,794 (GRCm39) |
splice site |
probably null |
|
|
IGL01895:Akr1c13
|
APN |
13 |
4,255,372 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02029:Akr1c13
|
APN |
13 |
4,255,361 (GRCm39) |
nonsense |
probably null |
|
|
IGL02316:Akr1c13
|
APN |
13 |
4,253,458 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02949:Akr1c13
|
APN |
13 |
4,248,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0050:Akr1c13
|
UTSW |
13 |
4,244,669 (GRCm39) |
splice site |
probably benign |
|
|
R0184:Akr1c13
|
UTSW |
13 |
4,244,055 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0470:Akr1c13
|
UTSW |
13 |
4,248,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0722:Akr1c13
|
UTSW |
13 |
4,247,931 (GRCm39) |
splice site |
probably null |
|
|
R0791:Akr1c13
|
UTSW |
13 |
4,244,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0792:Akr1c13
|
UTSW |
13 |
4,244,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Akr1c13
|
UTSW |
13 |
4,248,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2509:Akr1c13
|
UTSW |
13 |
4,248,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4624:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4628:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Akr1c13
|
UTSW |
13 |
4,247,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4764:Akr1c13
|
UTSW |
13 |
4,248,496 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5112:Akr1c13
|
UTSW |
13 |
4,244,151 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5149:Akr1c13
|
UTSW |
13 |
4,244,168 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5203:Akr1c13
|
UTSW |
13 |
4,247,896 (GRCm39) |
nonsense |
probably null |
|
|
R5408:Akr1c13
|
UTSW |
13 |
4,244,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5776:Akr1c13
|
UTSW |
13 |
4,244,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6469:Akr1c13
|
UTSW |
13 |
4,246,511 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7466:Akr1c13
|
UTSW |
13 |
4,242,436 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9080:Akr1c13
|
UTSW |
13 |
4,241,172 (GRCm39) |
unclassified |
probably benign |
|
|
X0020:Akr1c13
|
UTSW |
13 |
4,253,450 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation