Incidental Mutation 'R1289:Rnf169'
| ID |
150735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf169
|
| Ensembl Gene |
ENSMUSG00000058761 |
| Gene Name |
ring finger protein 169 |
| Synonyms |
2900057K09Rik |
| MMRRC Submission |
039355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R1289 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
99569461-99629655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99574943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 551
(I551V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080817]
|
| AlphaFold |
E9Q7F2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080817
AA Change: I551V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000079631
Gene: ENSMUSG00000058761
AA Change: I551V
| 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 |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,756 (GRCm39) |
Y367* |
probably null |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,115,026 (GRCm39) |
R997G |
possibly damaging |
Het |
| Brd10 |
T |
C |
19: 29,700,852 (GRCm39) |
I745M |
probably benign |
Het |
| Col22a1 |
T |
G |
15: 71,709,226 (GRCm39) |
K655T |
unknown |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Glcci1 |
G |
A |
6: 8,593,088 (GRCm39) |
V298I |
possibly damaging |
Het |
| Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
| Gm9956 |
T |
A |
10: 56,621,676 (GRCm39) |
S113T |
probably damaging |
Het |
| Gpr75 |
T |
C |
11: 30,842,706 (GRCm39) |
I537T |
probably benign |
Het |
| Hars2 |
T |
G |
18: 36,916,465 (GRCm39) |
|
probably null |
Het |
| Helq |
A |
G |
5: 100,944,330 (GRCm39) |
V260A |
probably damaging |
Het |
| Ift172 |
A |
C |
5: 31,438,320 (GRCm39) |
F46V |
probably damaging |
Het |
| Klk1b9 |
A |
T |
7: 43,627,848 (GRCm39) |
I49L |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,696,563 (GRCm39) |
N2450K |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,554,764 (GRCm39) |
V867A |
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,488,400 (GRCm39) |
T645K |
possibly damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,603 (GRCm39) |
L931P |
probably damaging |
Het |
| Phf19 |
T |
C |
2: 34,786,042 (GRCm39) |
T476A |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,475,630 (GRCm39) |
E4472V |
probably damaging |
Het |
| Tek |
T |
G |
4: 94,693,067 (GRCm39) |
F209V |
probably damaging |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
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 |
|
IGL02344:Rnf169
|
APN |
7 |
99,575,642 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCTCACTGTCAAACATGCGATG -3'
(R):5'- CAGGACTGTGTTAGAAAACGGAGCC -3'
Sequencing Primer
(F):5'- CTGTCAAACATGCGATGTGACTG -3'
(R):5'- CGTGAGTTCTCACTGGAAACC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation