Incidental Mutation 'R2342:Rnf169'
| ID |
246785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf169
|
| Ensembl Gene |
ENSMUSG00000058761 |
| Gene Name |
ring finger protein 169 |
| Synonyms |
2900057K09Rik |
| MMRRC Submission |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
135 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99569461-99629655 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99574652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 648
(K648E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080817]
|
| AlphaFold |
E9Q7F2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080817
AA Change: K648E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000079631
Gene: ENSMUSG00000058761
AA Change: K648E
| 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 |
|
| Meta Mutation Damage Score |
0.0621 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
| Zbtb10 |
C |
T |
3: 9,330,255 (GRCm39) |
P538S |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
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 |
|
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 |
|
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'- TGAGAACATTCAGCTAGCTCTTTTG -3'
(R):5'- GGGTAATGGCATTCTGGTCAAC -3'
Sequencing Primer
(F):5'- GCTAGCTCTTTTGGATAAATGACAGG -3'
(R):5'- CTGGTCAACAGCCTAGGAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation