Incidental Mutation 'IGL02949:Akr1c13'
ID |
364879 |
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 # |
IGL02949
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
4241166-4255603 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4248593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 266
(V266E)
|
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: V266E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021634 Gene: ENSMUSG00000021213 AA Change: V266E
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
Abhd5 |
T |
C |
9: 122,206,980 (GRCm39) |
F89L |
possibly damaging |
Het |
B4galt2 |
C |
T |
4: 117,738,602 (GRCm39) |
A72T |
probably benign |
Het |
Ccdc141 |
T |
C |
2: 76,857,938 (GRCm39) |
Y1081C |
probably damaging |
Het |
Coq8b |
T |
C |
7: 26,956,038 (GRCm39) |
V405A |
possibly damaging |
Het |
Ddah2 |
A |
G |
17: 35,280,776 (GRCm39) |
K251E |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,272,331 (GRCm39) |
V1045A |
probably benign |
Het |
Dpy19l1 |
A |
T |
9: 24,332,476 (GRCm39) |
M662K |
probably benign |
Het |
Dpys |
A |
G |
15: 39,690,279 (GRCm39) |
V358A |
probably damaging |
Het |
H2-D1 |
A |
G |
17: 35,483,064 (GRCm39) |
N198S |
probably benign |
Het |
Hnrnpa1 |
T |
C |
15: 103,150,538 (GRCm39) |
V163A |
probably damaging |
Het |
Hr |
C |
T |
14: 70,797,225 (GRCm39) |
R543C |
possibly damaging |
Het |
Lct |
C |
T |
1: 128,240,869 (GRCm39) |
V245M |
probably benign |
Het |
Lpl |
G |
A |
8: 69,345,400 (GRCm39) |
V135M |
probably damaging |
Het |
Mblac1 |
T |
A |
5: 138,193,119 (GRCm39) |
C154S |
probably benign |
Het |
Mmp9 |
T |
C |
2: 164,793,039 (GRCm39) |
F396S |
probably damaging |
Het |
Mroh1 |
A |
T |
15: 76,293,168 (GRCm39) |
H314L |
probably damaging |
Het |
Msantd4 |
T |
A |
9: 4,385,196 (GRCm39) |
L307Q |
probably damaging |
Het |
Nol8 |
A |
G |
13: 49,815,878 (GRCm39) |
D662G |
probably benign |
Het |
Nynrin |
G |
A |
14: 56,109,837 (GRCm39) |
S1648N |
probably damaging |
Het |
Or52a20 |
A |
G |
7: 103,366,427 (GRCm39) |
I209V |
probably benign |
Het |
Plcb2 |
C |
T |
2: 118,549,590 (GRCm39) |
|
probably null |
Het |
Scyl2 |
T |
A |
10: 89,496,163 (GRCm39) |
N229I |
possibly damaging |
Het |
Spryd3 |
C |
T |
15: 102,026,544 (GRCm39) |
E376K |
probably benign |
Het |
Srr |
T |
G |
11: 74,799,563 (GRCm39) |
E304A |
probably benign |
Het |
Srsf1 |
A |
G |
11: 87,940,352 (GRCm39) |
|
probably benign |
Het |
Txnrd2 |
T |
G |
16: 18,296,456 (GRCm39) |
S473A |
probably benign |
Het |
Wdr18 |
T |
A |
10: 79,800,889 (GRCm39) |
C151S |
probably benign |
Het |
Zfp282 |
C |
T |
6: 47,874,848 (GRCm39) |
T351I |
probably damaging |
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 |
|
IGL01553:Akr1c13
|
APN |
13 |
4,244,774 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
2015-12-18 |