Incidental Mutation 'IGL01476:Rnf169'
| ID |
88455 |
| 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 # |
IGL01476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
99569461-99629655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99604691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 174
(Y174D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080817]
|
| AlphaFold |
E9Q7F2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080817
AA Change: Y174D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079631
Gene: ENSMUSG00000058761
AA Change: Y174D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174264
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Abcc10 |
A |
G |
17: 46,638,863 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
G |
A |
4: 140,728,081 (GRCm39) |
C558Y |
probably damaging |
Het |
| Btbd1 |
G |
A |
7: 81,450,797 (GRCm39) |
R328* |
probably null |
Het |
| Cdk8 |
A |
G |
5: 146,231,973 (GRCm39) |
|
probably null |
Het |
| Chd8 |
A |
T |
14: 52,442,947 (GRCm39) |
N534K |
probably benign |
Het |
| Cybc1 |
T |
C |
11: 121,116,671 (GRCm39) |
Y86C |
probably damaging |
Het |
| Dlgap2 |
C |
T |
8: 14,828,301 (GRCm39) |
R570* |
probably null |
Het |
| Eri2 |
A |
C |
7: 119,389,472 (GRCm39) |
F149V |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,347,363 (GRCm39) |
M1054T |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,259,217 (GRCm39) |
V84A |
probably damaging |
Het |
| Got1 |
A |
C |
19: 43,512,848 (GRCm39) |
V16G |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,436,179 (GRCm39) |
R62C |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,828,067 (GRCm39) |
R1232G |
possibly damaging |
Het |
| Map1a |
A |
G |
2: 121,135,688 (GRCm39) |
Y1930C |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,056 (GRCm39) |
S217P |
probably damaging |
Het |
| Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
| Or2ag2b |
G |
A |
7: 106,417,827 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,571,122 (GRCm39) |
K169R |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,381,637 (GRCm39) |
E282G |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,599,783 (GRCm39) |
S840P |
possibly damaging |
Het |
| Skor2 |
A |
T |
18: 76,946,362 (GRCm39) |
Q28L |
unknown |
Het |
| Slc35f2 |
T |
C |
9: 53,713,990 (GRCm39) |
V168A |
possibly damaging |
Het |
| Slc6a7 |
A |
T |
18: 61,138,845 (GRCm39) |
L221Q |
probably damaging |
Het |
| Spata31e5 |
A |
T |
1: 28,816,534 (GRCm39) |
H499Q |
probably benign |
Het |
| Syt4 |
A |
T |
18: 31,574,696 (GRCm39) |
V307E |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,850,693 (GRCm39) |
L110S |
probably benign |
Het |
| Thnsl1 |
T |
A |
2: 21,216,970 (GRCm39) |
D241E |
probably benign |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tpbpb |
A |
T |
13: 61,049,948 (GRCm39) |
D60E |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,865,170 (GRCm39) |
I168V |
probably damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
| Wscd2 |
A |
G |
5: 113,710,382 (GRCm39) |
D302G |
probably damaging |
Het |
|
| Other mutations in Rnf169 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation