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 |
Incidental Mutation