Incidental Mutation 'R5505:Rnf220'
ID |
430874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf220
|
Ensembl Gene |
ENSMUSG00000028677 |
Gene Name |
ring finger protein 220 |
Synonyms |
5730503K05Rik, 4931406I20Rik |
MMRRC Submission |
043066-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R5505 (G1)
|
Quality Score |
203 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
117128660-117354249 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to C
at 117153288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030439]
[ENSMUST00000094853]
|
AlphaFold |
Q6PDX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030439
|
SMART Domains |
Protein: ENSMUSP00000030439 Gene: ENSMUSG00000028677
Domain | Start | End | E-Value | Type |
Pfam:RNF220
|
217 |
339 |
3.5e-38 |
PFAM |
Pfam:RNF220
|
325 |
444 |
4.9e-51 |
PFAM |
RING
|
514 |
552 |
1.62e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094853
|
SMART Domains |
Protein: ENSMUSP00000092449 Gene: ENSMUSG00000028677
Domain | Start | End | E-Value | Type |
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
RING
|
301 |
339 |
1.62e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139618
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150148
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.9%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
A |
5: 24,606,036 (GRCm39) |
D240E |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,728,309 (GRCm39) |
E480K |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,750,248 (GRCm39) |
E372G |
probably damaging |
Het |
Atp23 |
G |
T |
10: 126,723,499 (GRCm39) |
A201D |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,046,699 (GRCm39) |
D73G |
probably benign |
Het |
Ccdc7a |
A |
G |
8: 129,706,655 (GRCm39) |
S325P |
possibly damaging |
Het |
Cckar |
A |
G |
5: 53,860,410 (GRCm39) |
Y140H |
probably damaging |
Het |
Cd46 |
A |
T |
1: 194,767,688 (GRCm39) |
D124E |
possibly damaging |
Het |
Cep290 |
T |
C |
10: 100,335,048 (GRCm39) |
|
probably null |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,803,745 (GRCm39) |
S34P |
probably benign |
Het |
Enah |
T |
A |
1: 181,734,018 (GRCm39) |
|
probably benign |
Het |
Gad2 |
C |
G |
2: 22,514,845 (GRCm39) |
L108V |
probably benign |
Het |
Gpr22 |
T |
C |
12: 31,759,724 (GRCm39) |
I133V |
probably damaging |
Het |
Hdac4 |
T |
C |
1: 91,903,187 (GRCm39) |
T13A |
probably benign |
Het |
Ighv1-4 |
A |
G |
12: 114,451,057 (GRCm39) |
V17A |
possibly damaging |
Het |
Ints8 |
T |
A |
4: 11,221,143 (GRCm39) |
Q744L |
probably benign |
Het |
Lrit3 |
C |
T |
3: 129,585,087 (GRCm39) |
V224I |
possibly damaging |
Het |
Mgat4a |
T |
C |
1: 37,535,035 (GRCm39) |
I108V |
probably benign |
Het |
Mmp9 |
T |
C |
2: 164,795,528 (GRCm39) |
I682T |
probably benign |
Het |
Myh7b |
G |
A |
2: 155,474,592 (GRCm39) |
A1742T |
probably benign |
Het |
Nlrp12 |
C |
T |
7: 3,298,015 (GRCm39) |
G52D |
probably damaging |
Het |
Or5t9 |
T |
C |
2: 86,659,845 (GRCm39) |
F250L |
possibly damaging |
Het |
Pcnx1 |
T |
C |
12: 81,996,927 (GRCm39) |
L941P |
probably damaging |
Het |
Pla2g4e |
T |
C |
2: 120,075,256 (GRCm39) |
R45G |
probably benign |
Het |
Plcz1 |
C |
G |
6: 139,961,942 (GRCm39) |
G203A |
probably damaging |
Het |
Poldip2 |
A |
G |
11: 78,406,001 (GRCm39) |
T76A |
probably benign |
Het |
Prdm15 |
T |
A |
16: 97,618,183 (GRCm39) |
H325L |
possibly damaging |
Het |
Ralyl |
A |
T |
3: 13,841,980 (GRCm39) |
I39F |
probably damaging |
Het |
Rnpc3 |
T |
C |
3: 113,409,102 (GRCm39) |
K318E |
probably damaging |
Het |
Rsbn1 |
T |
A |
3: 103,836,259 (GRCm39) |
N432K |
probably damaging |
Het |
Sh3yl1 |
T |
A |
12: 30,992,072 (GRCm39) |
Y176N |
probably damaging |
Het |
Slc25a30 |
G |
A |
14: 76,000,789 (GRCm39) |
L272F |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,234,772 (GRCm39) |
V844A |
probably damaging |
Het |
Srsf5 |
T |
C |
12: 80,995,857 (GRCm39) |
|
probably benign |
Het |
Tle2 |
T |
A |
10: 81,417,574 (GRCm39) |
D223E |
probably benign |
Het |
Tmem192 |
A |
G |
8: 65,416,898 (GRCm39) |
E39G |
possibly damaging |
Het |
Trpc6 |
T |
A |
9: 8,626,736 (GRCm39) |
L362H |
probably damaging |
Het |
Tuba4a |
A |
G |
1: 75,193,060 (GRCm39) |
Y185H |
probably damaging |
Het |
Uba6 |
A |
G |
5: 86,268,405 (GRCm39) |
V941A |
probably benign |
Het |
Vmn2r35 |
A |
T |
7: 7,789,479 (GRCm39) |
Y753N |
probably damaging |
Het |
Zfp941 |
C |
T |
7: 140,391,830 (GRCm39) |
V510I |
probably benign |
Het |
|
Other mutations in Rnf220 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00940:Rnf220
|
APN |
4 |
117,164,872 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01345:Rnf220
|
APN |
4 |
117,130,467 (GRCm39) |
nonsense |
probably null |
|
IGL02097:Rnf220
|
APN |
4 |
117,130,524 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02245:Rnf220
|
APN |
4 |
117,156,734 (GRCm39) |
splice site |
probably benign |
|
IGL02366:Rnf220
|
APN |
4 |
117,346,980 (GRCm39) |
missense |
probably benign |
|
IGL02725:Rnf220
|
APN |
4 |
117,129,576 (GRCm39) |
splice site |
probably benign |
|
IGL02801:Rnf220
|
APN |
4 |
117,130,448 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02963:Rnf220
|
APN |
4 |
117,347,389 (GRCm39) |
missense |
probably damaging |
0.97 |
BB007:Rnf220
|
UTSW |
4 |
117,164,787 (GRCm39) |
missense |
probably damaging |
0.99 |
BB017:Rnf220
|
UTSW |
4 |
117,164,787 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4131001:Rnf220
|
UTSW |
4 |
117,134,566 (GRCm39) |
critical splice donor site |
probably null |
|
R0041:Rnf220
|
UTSW |
4 |
117,130,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R0784:Rnf220
|
UTSW |
4 |
117,135,195 (GRCm39) |
splice site |
probably benign |
|
R1107:Rnf220
|
UTSW |
4 |
117,142,587 (GRCm39) |
missense |
probably damaging |
1.00 |
R1122:Rnf220
|
UTSW |
4 |
117,135,277 (GRCm39) |
missense |
probably benign |
0.01 |
R1231:Rnf220
|
UTSW |
4 |
117,347,081 (GRCm39) |
missense |
probably damaging |
0.98 |
R1708:Rnf220
|
UTSW |
4 |
117,347,083 (GRCm39) |
missense |
probably benign |
0.00 |
R1794:Rnf220
|
UTSW |
4 |
117,164,765 (GRCm39) |
missense |
probably benign |
|
R4488:Rnf220
|
UTSW |
4 |
117,347,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R4710:Rnf220
|
UTSW |
4 |
117,146,411 (GRCm39) |
unclassified |
probably benign |
|
R4790:Rnf220
|
UTSW |
4 |
117,146,252 (GRCm39) |
missense |
probably benign |
0.45 |
R4923:Rnf220
|
UTSW |
4 |
117,346,797 (GRCm39) |
missense |
possibly damaging |
0.71 |
R5173:Rnf220
|
UTSW |
4 |
117,146,471 (GRCm39) |
start gained |
probably benign |
|
R5334:Rnf220
|
UTSW |
4 |
117,129,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R5849:Rnf220
|
UTSW |
4 |
117,134,809 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7075:Rnf220
|
UTSW |
4 |
117,143,079 (GRCm39) |
missense |
probably benign |
0.28 |
R7349:Rnf220
|
UTSW |
4 |
117,135,015 (GRCm39) |
missense |
probably damaging |
0.99 |
R7478:Rnf220
|
UTSW |
4 |
117,153,333 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7541:Rnf220
|
UTSW |
4 |
117,347,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7930:Rnf220
|
UTSW |
4 |
117,164,787 (GRCm39) |
missense |
probably damaging |
0.99 |
R8030:Rnf220
|
UTSW |
4 |
117,135,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R8202:Rnf220
|
UTSW |
4 |
117,347,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R8701:Rnf220
|
UTSW |
4 |
117,347,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R9268:Rnf220
|
UTSW |
4 |
117,346,833 (GRCm39) |
missense |
probably benign |
0.09 |
R9452:Rnf220
|
UTSW |
4 |
117,153,339 (GRCm39) |
missense |
probably benign |
0.08 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCGTAAGCTACTCTGCAATG -3'
(R):5'- CTCAGAATACGGCTCTCACC -3'
Sequencing Primer
(F):5'- CAGGATTCTTCAAGGTGCTCAGATC -3'
(R):5'- AGAATACGGCTCTCACCTGGTC -3'
|
Posted On |
2016-10-05 |