Incidental Mutation 'IGL00837:Rnf217'
ID |
13843 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf217
|
Ensembl Gene |
ENSMUSG00000063760 |
Gene Name |
ring finger protein 217 |
Synonyms |
Ibrdc1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
IGL00837
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
31377883-31485721 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 31379770 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 484
(L484P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080650
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081989]
|
AlphaFold |
D3YYI7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081989
AA Change: L484P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000080650 Gene: ENSMUSG00000063760 AA Change: L484P
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
low complexity region
|
39 |
59 |
N/A |
INTRINSIC |
low complexity region
|
97 |
121 |
N/A |
INTRINSIC |
low complexity region
|
147 |
191 |
N/A |
INTRINSIC |
RING
|
236 |
280 |
2.01e-1 |
SMART |
IBR
|
301 |
369 |
2.66e-16 |
SMART |
IBR
|
376 |
447 |
3.19e-1 |
SMART |
RING
|
396 |
425 |
4.87e0 |
SMART |
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcyap1r1 |
T |
C |
6: 55,438,605 (GRCm39) |
|
probably benign |
Het |
Adig |
T |
A |
2: 158,344,709 (GRCm39) |
F16Y |
possibly damaging |
Het |
Alox12e |
T |
C |
11: 70,211,880 (GRCm39) |
T210A |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,646,724 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
T |
A |
6: 48,885,598 (GRCm39) |
I701N |
possibly damaging |
Het |
Armc1 |
A |
C |
3: 19,198,584 (GRCm39) |
N125K |
probably benign |
Het |
Bcl2a1c |
A |
T |
9: 114,159,560 (GRCm39) |
T113S |
probably benign |
Het |
Cdh10 |
A |
T |
15: 19,013,490 (GRCm39) |
I697L |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,829,137 (GRCm39) |
S256T |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,883,999 (GRCm39) |
N82S |
probably benign |
Het |
Gart |
T |
C |
16: 91,435,608 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
A |
G |
10: 40,130,470 (GRCm39) |
|
probably benign |
Het |
Igf1r |
T |
C |
7: 67,851,100 (GRCm39) |
|
probably benign |
Het |
Mtmr6 |
T |
A |
14: 60,517,666 (GRCm39) |
Y92* |
probably null |
Het |
Muc13 |
A |
T |
16: 33,628,329 (GRCm39) |
K360* |
probably null |
Het |
Nfyc |
A |
G |
4: 120,638,744 (GRCm39) |
|
probably benign |
Het |
Pole |
T |
A |
5: 110,449,875 (GRCm39) |
V774E |
possibly damaging |
Het |
Slc18a2 |
A |
T |
19: 59,272,816 (GRCm39) |
I373F |
probably benign |
Het |
Slc5a9 |
A |
G |
4: 111,750,887 (GRCm39) |
|
probably benign |
Het |
Tbc1d30 |
T |
C |
10: 121,132,750 (GRCm39) |
I205V |
probably damaging |
Het |
Tfap2d |
A |
T |
1: 19,189,430 (GRCm39) |
D270V |
probably damaging |
Het |
Tmem63c |
G |
A |
12: 87,123,971 (GRCm39) |
S483N |
probably benign |
Het |
Tor1aip1 |
T |
A |
1: 155,882,662 (GRCm39) |
|
probably benign |
Het |
Tsga10 |
A |
C |
1: 37,840,992 (GRCm39) |
|
probably benign |
Het |
Ttc21b |
A |
T |
2: 66,065,915 (GRCm39) |
|
probably null |
Het |
Wdr89 |
A |
T |
12: 75,679,825 (GRCm39) |
L143* |
probably null |
Het |
|
Other mutations in Rnf217 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01102:Rnf217
|
APN |
10 |
31,484,499 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02160:Rnf217
|
APN |
10 |
31,381,767 (GRCm39) |
critical splice donor site |
probably null |
|
R0582:Rnf217
|
UTSW |
10 |
31,484,763 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0825:Rnf217
|
UTSW |
10 |
31,393,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R1606:Rnf217
|
UTSW |
10 |
31,410,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3715:Rnf217
|
UTSW |
10 |
31,410,728 (GRCm39) |
nonsense |
probably null |
|
R3809:Rnf217
|
UTSW |
10 |
31,379,804 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4533:Rnf217
|
UTSW |
10 |
31,484,759 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4606:Rnf217
|
UTSW |
10 |
31,393,472 (GRCm39) |
nonsense |
probably null |
|
R4937:Rnf217
|
UTSW |
10 |
31,393,520 (GRCm39) |
missense |
probably benign |
|
R6683:Rnf217
|
UTSW |
10 |
31,410,822 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6940:Rnf217
|
UTSW |
10 |
31,381,973 (GRCm39) |
splice site |
probably null |
|
R7751:Rnf217
|
UTSW |
10 |
31,393,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R9668:Rnf217
|
UTSW |
10 |
31,484,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |