Incidental Mutation 'IGL02344:Rnf169'
ID |
289223 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rnf169
|
Ensembl Gene |
ENSMUSG00000058761 |
Gene Name |
ring finger protein 169 |
Synonyms |
2900057K09Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.155)
|
Stock # |
IGL02344
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
99569461-99629655 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99575642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 318
(S318P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079631
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080817]
|
AlphaFold |
E9Q7F2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080817
AA Change: S318P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079631 Gene: ENSMUSG00000058761 AA Change: S318P
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
RING
|
61 |
96 |
3.16e-1 |
SMART |
Blast:RING
|
133 |
176 |
7e-8 |
BLAST |
low complexity region
|
302 |
314 |
N/A |
INTRINSIC |
low complexity region
|
649 |
661 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AI182371 |
T |
C |
2: 34,979,198 (GRCm39) |
N167D |
probably benign |
Het |
AI467606 |
G |
T |
7: 126,691,691 (GRCm39) |
A89S |
probably damaging |
Het |
Atrip |
T |
A |
9: 108,901,692 (GRCm39) |
K122* |
probably null |
Het |
B3glct |
C |
T |
5: 149,650,313 (GRCm39) |
R139* |
probably null |
Het |
Cep135 |
A |
G |
5: 76,764,668 (GRCm39) |
T549A |
probably benign |
Het |
Chd8 |
T |
C |
14: 52,439,107 (GRCm39) |
N64S |
probably damaging |
Het |
Dock2 |
T |
C |
11: 34,622,337 (GRCm39) |
I101V |
probably damaging |
Het |
Ipo5 |
T |
C |
14: 121,180,191 (GRCm39) |
|
probably benign |
Het |
Ly6g5c |
A |
G |
17: 35,329,723 (GRCm39) |
T68A |
possibly damaging |
Het |
Mthfd1l |
A |
G |
10: 3,998,272 (GRCm39) |
|
probably null |
Het |
Nme8 |
T |
A |
13: 19,858,574 (GRCm39) |
E88V |
possibly damaging |
Het |
Ptpn4 |
A |
T |
1: 119,700,990 (GRCm39) |
D86E |
probably damaging |
Het |
Sidt2 |
T |
C |
9: 45,856,590 (GRCm39) |
Y493C |
probably null |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Tet3 |
A |
G |
6: 83,380,815 (GRCm39) |
V451A |
probably benign |
Het |
Tmc3 |
A |
T |
7: 83,258,302 (GRCm39) |
I431L |
probably benign |
Het |
Trp73 |
C |
T |
4: 154,146,500 (GRCm39) |
G420S |
possibly damaging |
Het |
Vmn2r108 |
T |
C |
17: 20,689,405 (GRCm39) |
S517G |
probably damaging |
Het |
|
Other mutations in Rnf169 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01476:Rnf169
|
APN |
7 |
99,604,691 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03066:Rnf169
|
APN |
7 |
99,574,760 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0201:Rnf169
|
UTSW |
7 |
99,575,210 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1087:Rnf169
|
UTSW |
7 |
99,592,204 (GRCm39) |
missense |
probably benign |
0.01 |
R1289:Rnf169
|
UTSW |
7 |
99,574,943 (GRCm39) |
missense |
probably benign |
0.01 |
R1476:Rnf169
|
UTSW |
7 |
99,574,535 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1912:Rnf169
|
UTSW |
7 |
99,575,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Rnf169
|
UTSW |
7 |
99,574,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R2057:Rnf169
|
UTSW |
7 |
99,574,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R2342:Rnf169
|
UTSW |
7 |
99,574,652 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4755:Rnf169
|
UTSW |
7 |
99,574,930 (GRCm39) |
missense |
probably benign |
0.01 |
R4801:Rnf169
|
UTSW |
7 |
99,575,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R4802:Rnf169
|
UTSW |
7 |
99,575,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R5391:Rnf169
|
UTSW |
7 |
99,584,367 (GRCm39) |
critical splice donor site |
probably null |
|
R5395:Rnf169
|
UTSW |
7 |
99,584,367 (GRCm39) |
critical splice donor site |
probably null |
|
R5643:Rnf169
|
UTSW |
7 |
99,576,338 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5817:Rnf169
|
UTSW |
7 |
99,574,976 (GRCm39) |
missense |
probably benign |
0.02 |
R5952:Rnf169
|
UTSW |
7 |
99,574,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R6009:Rnf169
|
UTSW |
7 |
99,576,330 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6453:Rnf169
|
UTSW |
7 |
99,584,434 (GRCm39) |
missense |
probably benign |
0.01 |
R7238:Rnf169
|
UTSW |
7 |
99,574,954 (GRCm39) |
missense |
probably benign |
0.10 |
R7500:Rnf169
|
UTSW |
7 |
99,629,445 (GRCm39) |
missense |
probably damaging |
0.99 |
R8194:Rnf169
|
UTSW |
7 |
99,575,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R9227:Rnf169
|
UTSW |
7 |
99,574,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9469:Rnf169
|
UTSW |
7 |
99,575,567 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9548:Rnf169
|
UTSW |
7 |
99,574,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R9729:Rnf169
|
UTSW |
7 |
99,575,477 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rnf169
|
UTSW |
7 |
99,575,068 (GRCm39) |
missense |
not run |
|
|
Posted On |
2015-04-16 |