Incidental Mutation 'R4488:Rnf220'
| ID |
330586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf220
|
| Ensembl Gene |
ENSMUSG00000028677 |
| Gene Name |
ring finger protein 220 |
| Synonyms |
5730503K05Rik, 4931406I20Rik |
| MMRRC Submission |
041744-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R4488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
117128660-117354249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117347011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 134
(S134P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030439]
|
| AlphaFold |
Q6PDX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030439
AA Change: S134P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: S134P
| 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 |
noncoding transcript
Transcript: ENSMUST00000123222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138435
|
| Meta Mutation Damage Score |
0.4101 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
95% (38/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
| Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
| Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
| Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
| Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
| Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
| Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
| Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
| Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
| Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
| Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
| Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
| Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly damaging |
Het |
| Zup1 |
G |
A |
10: 33,824,960 (GRCm39) |
T174I |
probably damaging |
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 |
|
|
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 |
|
R5505:Rnf220
|
UTSW |
4 |
117,153,288 (GRCm39) |
intron |
probably benign |
|
|
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'- TCAGAGATGAGGCCAGACAC -3'
(R):5'- TTCACCAATGGCTCCTACAC -3'
Sequencing Primer
(F):5'- CAGCAAAGATCTTCTTCCCAGTATC -3'
(R):5'- GCCTCTATGTACCACCGGCAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation