Incidental Mutation 'IGL01822:Rnf182'
ID |
154573 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf182
|
Ensembl Gene |
ENSMUSG00000044164 |
Gene Name |
ring finger protein 182 |
Synonyms |
C630023L15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
IGL01822
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
43769186-43824421 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43821508 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 20
(C20R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000062005
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059986]
[ENSMUST00000161817]
|
AlphaFold |
Q8C432 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000059986
AA Change: C20R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000062005 Gene: ENSMUSG00000044164 AA Change: C20R
Domain | Start | End | E-Value | Type |
RING
|
20 |
67 |
2.17e-5 |
SMART |
low complexity region
|
101 |
112 |
N/A |
INTRINSIC |
transmembrane domain
|
184 |
206 |
N/A |
INTRINSIC |
transmembrane domain
|
211 |
233 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161817
AA Change: C20R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cald1 |
A |
T |
6: 34,730,507 (GRCm39) |
T269S |
probably damaging |
Het |
Cntnap5c |
T |
A |
17: 58,362,700 (GRCm39) |
I351N |
probably damaging |
Het |
Dhcr7 |
T |
A |
7: 143,399,236 (GRCm39) |
I296N |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,972,819 (GRCm39) |
F2038S |
probably damaging |
Het |
Dsel |
A |
G |
1: 111,789,626 (GRCm39) |
L303P |
probably damaging |
Het |
Fabp12 |
G |
A |
3: 10,311,082 (GRCm39) |
R127* |
probably null |
Het |
Fgf12 |
A |
T |
16: 28,008,351 (GRCm39) |
S150T |
possibly damaging |
Het |
Fkbp15 |
A |
G |
4: 62,270,741 (GRCm39) |
M32T |
probably benign |
Het |
Lrrc66 |
G |
A |
5: 73,787,311 (GRCm39) |
T13I |
probably benign |
Het |
Mmgt2 |
T |
C |
11: 62,555,832 (GRCm39) |
V60A |
possibly damaging |
Het |
Neb |
G |
T |
2: 52,148,758 (GRCm39) |
S2596R |
possibly damaging |
Het |
Nfkbib |
T |
C |
7: 28,461,134 (GRCm39) |
D171G |
probably benign |
Het |
Oas1a |
T |
C |
5: 121,037,277 (GRCm39) |
E250G |
probably benign |
Het |
Or2n1 |
C |
A |
17: 38,486,339 (GRCm39) |
D121E |
probably damaging |
Het |
Or4a27 |
A |
T |
2: 88,559,136 (GRCm39) |
I269N |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,325,608 (GRCm39) |
K970E |
probably damaging |
Het |
Slc30a2 |
T |
A |
4: 134,075,948 (GRCm39) |
Y192N |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,616,670 (GRCm39) |
E16528K |
possibly damaging |
Het |
Vmn2r100 |
T |
A |
17: 19,725,100 (GRCm39) |
C10S |
probably null |
Het |
Vmn2r61 |
A |
T |
7: 41,950,130 (GRCm39) |
H850L |
probably benign |
Het |
Vmn2r87 |
T |
C |
10: 130,307,991 (GRCm39) |
Y749C |
probably damaging |
Het |
Wnt5b |
A |
T |
6: 119,410,433 (GRCm39) |
C336S |
probably damaging |
Het |
Zfp398 |
G |
A |
6: 47,843,205 (GRCm39) |
R287Q |
probably damaging |
Het |
|
Other mutations in Rnf182 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02131:Rnf182
|
APN |
13 |
43,821,818 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02489:Rnf182
|
APN |
13 |
43,821,779 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4449001:Rnf182
|
UTSW |
13 |
43,822,153 (GRCm39) |
missense |
probably benign |
0.00 |
R0507:Rnf182
|
UTSW |
13 |
43,821,823 (GRCm39) |
missense |
probably benign |
0.02 |
R1826:Rnf182
|
UTSW |
13 |
43,822,010 (GRCm39) |
nonsense |
probably null |
|
R1827:Rnf182
|
UTSW |
13 |
43,822,010 (GRCm39) |
nonsense |
probably null |
|
R1828:Rnf182
|
UTSW |
13 |
43,822,010 (GRCm39) |
nonsense |
probably null |
|
R1856:Rnf182
|
UTSW |
13 |
43,821,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R1909:Rnf182
|
UTSW |
13 |
43,821,899 (GRCm39) |
missense |
probably benign |
0.03 |
R2151:Rnf182
|
UTSW |
13 |
43,821,899 (GRCm39) |
missense |
probably benign |
0.03 |
R5874:Rnf182
|
UTSW |
13 |
43,821,563 (GRCm39) |
missense |
probably benign |
|
R6005:Rnf182
|
UTSW |
13 |
43,821,511 (GRCm39) |
missense |
probably damaging |
0.99 |
R6505:Rnf182
|
UTSW |
13 |
43,822,147 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-02-04 |