Incidental Mutation 'IGL01471:Rnf138'
| ID |
88275 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf138
|
| Ensembl Gene |
ENSMUSG00000024317 |
| Gene Name |
ring finger protein 138 |
| Synonyms |
2810480D20Rik, Trif-d, 2410015A17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01471
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
21134398-21161281 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 21157578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056641
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052396]
[ENSMUST00000072847]
|
| AlphaFold |
Q9CQE0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052396
|
| SMART Domains |
Protein: ENSMUSP00000056641
Gene: ENSMUSG00000024317
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
57 |
1.65e-5 |
SMART |
|
ZnF_C2H2
|
157 |
180 |
1.62e0 |
SMART |
|
RING
|
159 |
192 |
1.5e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072847
|
| SMART Domains |
Protein: ENSMUSP00000072626
Gene: ENSMUSG00000024317
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
57 |
1.65e-5 |
SMART |
|
ZnF_C2H2
|
157 |
180 |
1.62e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-DNA and protein-protein interactions. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1b |
A |
G |
2: 24,547,304 (GRCm39) |
S1226P |
probably damaging |
Het |
| Cdx2 |
A |
G |
5: 147,240,059 (GRCm39) |
F206L |
probably benign |
Het |
| Cldn1 |
T |
A |
16: 26,190,322 (GRCm39) |
I19F |
possibly damaging |
Het |
| Inpp5f |
T |
C |
7: 128,277,122 (GRCm39) |
V406A |
probably damaging |
Het |
| Ly6m |
A |
G |
15: 74,751,749 (GRCm39) |
V95A |
probably benign |
Het |
| Myh4 |
C |
T |
11: 67,146,205 (GRCm39) |
T1421M |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,104,727 (GRCm39) |
T490A |
probably benign |
Het |
| Slc12a4 |
T |
C |
8: 106,670,721 (GRCm39) |
Y1084C |
probably damaging |
Het |
| Sppl2a |
A |
T |
2: 126,759,787 (GRCm39) |
L48* |
probably null |
Het |
| Trp53 |
C |
A |
11: 69,479,349 (GRCm39) |
H173N |
probably damaging |
Het |
|
| Other mutations in Rnf138 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Rnf138
|
APN |
18 |
21,154,017 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01099:Rnf138
|
APN |
18 |
21,153,970 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0655:Rnf138
|
UTSW |
18 |
21,143,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1103:Rnf138
|
UTSW |
18 |
21,159,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1420:Rnf138
|
UTSW |
18 |
21,159,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1993:Rnf138
|
UTSW |
18 |
21,157,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Rnf138
|
UTSW |
18 |
21,159,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:Rnf138
|
UTSW |
18 |
21,143,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Rnf138
|
UTSW |
18 |
21,159,204 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6866:Rnf138
|
UTSW |
18 |
21,135,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Rnf138
|
UTSW |
18 |
21,141,750 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation