Incidental Mutation 'IGL02201:Akr1c14'
ID |
284187 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Akr1c14
|
Ensembl Gene |
ENSMUSG00000033715 |
Gene Name |
aldo-keto reductase family 1, member C14 |
Synonyms |
9030611N15Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02201
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
4099015-4140569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4131022 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 238
(D238G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041768]
[ENSMUST00000118717]
[ENSMUST00000147180]
|
AlphaFold |
Q91WT7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041768
AA Change: D238G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045394 Gene: ENSMUSG00000033715 AA Change: D238G
Domain | Start | End | E-Value | Type |
Pfam:Aldo_ket_red
|
18 |
301 |
2.4e-53 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000118717
AA Change: D238G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000112664 Gene: ENSMUSG00000033715 AA Change: D238G
Domain | Start | End | E-Value | Type |
Pfam:Aldo_ket_red
|
18 |
301 |
8.1e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147180
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl3 |
G |
A |
1: 78,676,870 (GRCm39) |
G484R |
probably damaging |
Het |
Adgrb3 |
A |
G |
1: 25,459,631 (GRCm39) |
|
probably benign |
Het |
Ccdc88b |
T |
A |
19: 6,823,999 (GRCm39) |
D1418V |
probably damaging |
Het |
Cnnm4 |
A |
T |
1: 36,511,831 (GRCm39) |
K353M |
probably damaging |
Het |
Col6a6 |
A |
G |
9: 105,658,194 (GRCm39) |
F673L |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dyrk1a |
A |
G |
16: 94,493,008 (GRCm39) |
E747G |
probably benign |
Het |
Eml5 |
T |
A |
12: 98,760,683 (GRCm39) |
|
probably benign |
Het |
Ercc6l2 |
A |
G |
13: 64,000,783 (GRCm39) |
N516D |
probably benign |
Het |
Fbxl17 |
A |
G |
17: 63,806,024 (GRCm39) |
L330P |
probably damaging |
Het |
Fgr |
A |
T |
4: 132,722,235 (GRCm39) |
Y168F |
probably damaging |
Het |
Frem2 |
T |
G |
3: 53,427,061 (GRCm39) |
K2962N |
probably benign |
Het |
Hdac4 |
G |
T |
1: 91,915,382 (GRCm39) |
|
probably null |
Het |
Il1r1 |
A |
T |
1: 40,352,428 (GRCm39) |
N533Y |
probably damaging |
Het |
Kcnab2 |
T |
C |
4: 152,486,375 (GRCm39) |
|
probably benign |
Het |
Knl1 |
C |
T |
2: 118,899,633 (GRCm39) |
P445S |
probably benign |
Het |
Lamb2 |
G |
A |
9: 108,364,741 (GRCm39) |
C1165Y |
probably damaging |
Het |
Nisch |
C |
T |
14: 30,909,051 (GRCm39) |
|
probably benign |
Het |
Or1i2 |
C |
T |
10: 78,448,104 (GRCm39) |
V124M |
probably damaging |
Het |
Or2m12 |
A |
T |
16: 19,105,212 (GRCm39) |
S94T |
probably benign |
Het |
Or8b40 |
A |
G |
9: 38,027,893 (GRCm39) |
D267G |
probably benign |
Het |
Or8h7 |
A |
G |
2: 86,721,420 (GRCm39) |
L33P |
probably damaging |
Het |
Pde3b |
T |
A |
7: 114,133,843 (GRCm39) |
M953K |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,274,506 (GRCm39) |
|
probably benign |
Het |
Plce1 |
T |
C |
19: 38,757,890 (GRCm39) |
|
probably benign |
Het |
Prr23a3 |
G |
T |
9: 98,747,297 (GRCm39) |
V84L |
possibly damaging |
Het |
Psg26 |
A |
G |
7: 18,214,071 (GRCm39) |
V197A |
probably benign |
Het |
Ptpra |
T |
A |
2: 30,336,389 (GRCm39) |
C80S |
possibly damaging |
Het |
Ripk4 |
A |
T |
16: 97,556,377 (GRCm39) |
V122E |
possibly damaging |
Het |
Scd2 |
A |
G |
19: 44,289,779 (GRCm39) |
N258S |
probably damaging |
Het |
Slc38a1 |
A |
T |
15: 96,476,679 (GRCm39) |
V394E |
probably damaging |
Het |
Slc7a15 |
A |
G |
12: 8,589,023 (GRCm39) |
S175P |
possibly damaging |
Het |
Tacc2 |
T |
A |
7: 130,227,942 (GRCm39) |
D1542E |
possibly damaging |
Het |
Trim67 |
G |
T |
8: 125,520,797 (GRCm39) |
R53L |
probably benign |
Het |
Urah |
A |
T |
7: 140,415,576 (GRCm39) |
T38S |
probably damaging |
Het |
Vps13c |
A |
G |
9: 67,874,418 (GRCm39) |
S3362G |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,734,978 (GRCm39) |
|
probably benign |
Het |
Zfyve28 |
T |
C |
5: 34,400,549 (GRCm39) |
T50A |
probably damaging |
Het |
|
Other mutations in Akr1c14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01759:Akr1c14
|
APN |
13 |
4,131,139 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02085:Akr1c14
|
APN |
13 |
4,128,035 (GRCm39) |
nonsense |
probably null |
|
IGL02419:Akr1c14
|
APN |
13 |
4,130,617 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03293:Akr1c14
|
APN |
13 |
4,129,130 (GRCm39) |
nonsense |
probably null |
|
PIT4362001:Akr1c14
|
UTSW |
13 |
4,129,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R0518:Akr1c14
|
UTSW |
13 |
4,131,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R2168:Akr1c14
|
UTSW |
13 |
4,131,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R4751:Akr1c14
|
UTSW |
13 |
4,115,338 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4812:Akr1c14
|
UTSW |
13 |
4,129,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R5030:Akr1c14
|
UTSW |
13 |
4,129,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Akr1c14
|
UTSW |
13 |
4,137,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R6590:Akr1c14
|
UTSW |
13 |
4,113,713 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6612:Akr1c14
|
UTSW |
13 |
4,115,331 (GRCm39) |
missense |
probably benign |
0.00 |
R6690:Akr1c14
|
UTSW |
13 |
4,113,713 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7033:Akr1c14
|
UTSW |
13 |
4,129,178 (GRCm39) |
critical splice donor site |
probably null |
|
R7200:Akr1c14
|
UTSW |
13 |
4,131,051 (GRCm39) |
missense |
probably benign |
0.00 |
R7257:Akr1c14
|
UTSW |
13 |
4,138,966 (GRCm39) |
missense |
probably benign |
0.03 |
R7432:Akr1c14
|
UTSW |
13 |
4,138,952 (GRCm39) |
missense |
probably benign |
|
R7536:Akr1c14
|
UTSW |
13 |
4,113,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R7769:Akr1c14
|
UTSW |
13 |
4,109,644 (GRCm39) |
missense |
probably benign |
0.00 |
R7941:Akr1c14
|
UTSW |
13 |
4,109,713 (GRCm39) |
missense |
probably benign |
|
R8292:Akr1c14
|
UTSW |
13 |
4,130,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8700:Akr1c14
|
UTSW |
13 |
4,131,157 (GRCm39) |
critical splice donor site |
probably benign |
|
R9135:Akr1c14
|
UTSW |
13 |
4,128,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R9224:Akr1c14
|
UTSW |
13 |
4,130,695 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9263:Akr1c14
|
UTSW |
13 |
4,113,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |