Incidental Mutation 'IGL00834:Akr1c20'
ID |
8752 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Akr1c20
|
Ensembl Gene |
ENSMUSG00000054757 |
Gene Name |
aldo-keto reductase family 1, member C20 |
Synonyms |
2610528B18Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00834
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
4536848-4573344 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 4562664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078239]
[ENSMUST00000080361]
|
AlphaFold |
Q8VC77 |
Predicted Effect |
probably null
Transcript: ENSMUST00000078239
|
SMART Domains |
Protein: ENSMUSP00000077363 Gene: ENSMUSG00000054757
Domain | Start | End | E-Value | Type |
Pfam:Aldo_ket_red
|
18 |
98 |
4.7e-12 |
PFAM |
Pfam:Aldo_ket_red
|
87 |
260 |
6e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080361
AA Change: V97A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000079232 Gene: ENSMUSG00000054757 AA Change: V97A
Domain | Start | End | E-Value | Type |
Pfam:Aldo_ket_red
|
18 |
301 |
2.8e-55 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000221564
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg5 |
T |
C |
3: 54,652,140 (GRCm39) |
|
probably benign |
Het |
App |
A |
T |
16: 84,762,599 (GRCm39) |
F675I |
probably damaging |
Het |
Atad1 |
C |
A |
19: 32,675,968 (GRCm39) |
C152F |
probably benign |
Het |
Atp2a3 |
A |
C |
11: 72,873,613 (GRCm39) |
I829L |
probably damaging |
Het |
B3galt1 |
C |
T |
2: 67,949,050 (GRCm39) |
S255L |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,964,754 (GRCm39) |
V1417A |
possibly damaging |
Het |
Cast |
T |
A |
13: 74,885,093 (GRCm39) |
T219S |
probably damaging |
Het |
Cep95 |
A |
T |
11: 106,709,043 (GRCm39) |
I705F |
probably damaging |
Het |
Cnot3 |
C |
T |
7: 3,653,854 (GRCm39) |
A2V |
probably damaging |
Het |
Col1a1 |
A |
G |
11: 94,840,204 (GRCm39) |
D1084G |
unknown |
Het |
Col5a3 |
G |
A |
9: 20,697,685 (GRCm39) |
Q873* |
probably null |
Het |
Cubn |
C |
T |
2: 13,386,738 (GRCm39) |
G1509D |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,952 (GRCm39) |
C66S |
possibly damaging |
Het |
Dennd4b |
T |
C |
3: 90,186,993 (GRCm39) |
|
probably null |
Het |
Dido1 |
G |
A |
2: 180,331,319 (GRCm39) |
T43M |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,506,091 (GRCm39) |
V3812I |
probably benign |
Het |
Islr2 |
T |
C |
9: 58,107,069 (GRCm39) |
T64A |
probably benign |
Het |
Kif2b |
A |
T |
11: 91,467,206 (GRCm39) |
I359N |
probably damaging |
Het |
Kit |
A |
C |
5: 75,806,619 (GRCm39) |
N704T |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,918,343 (GRCm39) |
F604L |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,699,404 (GRCm39) |
F294I |
probably benign |
Het |
Lrrn1 |
A |
G |
6: 107,545,269 (GRCm39) |
T356A |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,829 (GRCm39) |
V8I |
probably benign |
Het |
Nop56 |
T |
A |
2: 130,117,915 (GRCm39) |
H130Q |
possibly damaging |
Het |
Plg |
T |
A |
17: 12,630,380 (GRCm39) |
L639Q |
probably damaging |
Het |
Ppcdc |
A |
G |
9: 57,322,423 (GRCm39) |
F159L |
probably benign |
Het |
Ppp1ca |
A |
G |
19: 4,244,519 (GRCm39) |
T193A |
probably benign |
Het |
Prpf39 |
A |
G |
12: 65,090,037 (GRCm39) |
D117G |
probably damaging |
Het |
Ranbp2 |
C |
A |
10: 58,289,145 (GRCm39) |
T51K |
possibly damaging |
Het |
Sytl2 |
A |
G |
7: 90,031,844 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,915,085 (GRCm39) |
I2150F |
probably damaging |
Het |
Wdr11 |
T |
G |
7: 129,194,817 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Akr1c20 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01799:Akr1c20
|
APN |
13 |
4,564,257 (GRCm39) |
splice site |
probably null |
|
IGL01930:Akr1c20
|
APN |
13 |
4,557,647 (GRCm39) |
intron |
probably benign |
|
IGL02277:Akr1c20
|
APN |
13 |
4,564,404 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02811:Akr1c20
|
APN |
13 |
4,562,682 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03349:Akr1c20
|
APN |
13 |
4,558,249 (GRCm39) |
nonsense |
probably null |
|
R0165:Akr1c20
|
UTSW |
13 |
4,573,295 (GRCm39) |
missense |
probably benign |
0.02 |
R0193:Akr1c20
|
UTSW |
13 |
4,561,292 (GRCm39) |
splice site |
probably benign |
|
R0440:Akr1c20
|
UTSW |
13 |
4,537,207 (GRCm39) |
missense |
probably benign |
0.01 |
R1248:Akr1c20
|
UTSW |
13 |
4,564,399 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1396:Akr1c20
|
UTSW |
13 |
4,557,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R1735:Akr1c20
|
UTSW |
13 |
4,537,207 (GRCm39) |
missense |
probably benign |
0.00 |
R2325:Akr1c20
|
UTSW |
13 |
4,573,295 (GRCm39) |
missense |
probably benign |
0.02 |
R2359:Akr1c20
|
UTSW |
13 |
4,573,276 (GRCm39) |
missense |
probably damaging |
0.96 |
R2878:Akr1c20
|
UTSW |
13 |
4,557,774 (GRCm39) |
missense |
probably damaging |
1.00 |
R3712:Akr1c20
|
UTSW |
13 |
4,560,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R4512:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4514:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4544:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4545:Akr1c20
|
UTSW |
13 |
4,557,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Akr1c20
|
UTSW |
13 |
4,558,174 (GRCm39) |
nonsense |
probably null |
|
R5301:Akr1c20
|
UTSW |
13 |
4,573,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R5826:Akr1c20
|
UTSW |
13 |
4,560,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R7122:Akr1c20
|
UTSW |
13 |
4,561,275 (GRCm39) |
missense |
probably benign |
0.01 |
R7661:Akr1c20
|
UTSW |
13 |
4,558,218 (GRCm39) |
missense |
probably benign |
0.00 |
R7832:Akr1c20
|
UTSW |
13 |
4,562,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R8914:Akr1c20
|
UTSW |
13 |
4,561,215 (GRCm39) |
missense |
probably benign |
0.04 |
R9764:Akr1c20
|
UTSW |
13 |
4,564,388 (GRCm39) |
missense |
probably benign |
0.04 |
Z1177:Akr1c20
|
UTSW |
13 |
4,573,243 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-12-06 |