Incidental Mutation 'R0041:Rnf220'
ID |
64701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf220
|
Ensembl Gene |
ENSMUSG00000028677 |
Gene Name |
ring finger protein 220 |
Synonyms |
5730503K05Rik, 4931406I20Rik |
MMRRC Submission |
038335-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R0041 (G1)
|
Quality Score |
104 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
117128660-117354249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117130481 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 293
(L293P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030439]
[ENSMUST00000062824]
[ENSMUST00000094853]
[ENSMUST00000102690]
[ENSMUST00000106433]
[ENSMUST00000106434]
[ENSMUST00000125943]
[ENSMUST00000221654]
|
AlphaFold |
Q6PDX6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030439
AA Change: L506P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000030439 Gene: ENSMUSG00000028677 AA Change: L506P
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: ENSMUST00000062824
|
SMART Domains |
Protein: ENSMUSP00000061523 Gene: ENSMUSG00000048772
Domain | Start | End | E-Value | Type |
Pfam:DUF829
|
34 |
270 |
4.1e-62 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094853
AA Change: L293P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092449 Gene: ENSMUSG00000028677 AA Change: L293P
Domain | Start | End | E-Value | Type |
low complexity region
|
176 |
187 |
N/A |
INTRINSIC |
RING
|
301 |
339 |
1.62e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102690
AA Change: L185P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099751 Gene: ENSMUSG00000028677 AA Change: L185P
Domain | Start | End | E-Value | Type |
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
RING
|
193 |
231 |
1.62e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106433
|
SMART Domains |
Protein: ENSMUSP00000102041 Gene: ENSMUSG00000048772
Domain | Start | End | E-Value | Type |
Pfam:DUF829
|
19 |
255 |
3.4e-62 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106434
|
SMART Domains |
Protein: ENSMUSP00000102042 Gene: ENSMUSG00000048772
Domain | Start | End | E-Value | Type |
Pfam:DUF829
|
41 |
277 |
1.3e-57 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125943
|
SMART Domains |
Protein: ENSMUSP00000121458 Gene: ENSMUSG00000048772
Domain | Start | End | E-Value | Type |
Pfam:DUF829
|
19 |
252 |
5.3e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145836
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151829
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221654
AA Change: L248P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223371
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221157
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128122
|
SMART Domains |
Protein: ENSMUSP00000114642 Gene: ENSMUSG00000028677
Domain | Start | End | E-Value | Type |
low complexity region
|
94 |
105 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1343 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.3%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts13 |
A |
G |
2: 26,873,986 (GRCm39) |
R412G |
probably damaging |
Het |
Adamts3 |
T |
A |
5: 89,832,326 (GRCm39) |
N927Y |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
Agpat3 |
C |
A |
10: 78,123,881 (GRCm39) |
|
probably benign |
Het |
AI182371 |
T |
A |
2: 34,975,733 (GRCm39) |
Q277L |
possibly damaging |
Het |
Arhgef15 |
A |
T |
11: 68,845,342 (GRCm39) |
L170Q |
possibly damaging |
Het |
Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
Bspry |
G |
C |
4: 62,404,791 (GRCm39) |
A196P |
probably damaging |
Het |
Cacna1c |
T |
A |
6: 118,570,988 (GRCm39) |
L2095F |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,651 (GRCm39) |
S908C |
probably damaging |
Het |
Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
Dynap |
A |
G |
18: 70,375,105 (GRCm39) |
S37P |
possibly damaging |
Het |
Efna5 |
A |
T |
17: 62,914,467 (GRCm39) |
|
probably benign |
Het |
Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
Fbxw16 |
T |
A |
9: 109,277,232 (GRCm39) |
S37C |
probably damaging |
Het |
Galnt4 |
A |
G |
10: 98,944,374 (GRCm39) |
Y33C |
probably benign |
Het |
Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
Krt71 |
C |
A |
15: 101,647,753 (GRCm39) |
E222D |
probably damaging |
Het |
Ltf |
T |
A |
9: 110,858,636 (GRCm39) |
D461E |
possibly damaging |
Het |
Mapk4 |
A |
T |
18: 74,068,109 (GRCm39) |
L274Q |
probably damaging |
Het |
Mbd6 |
A |
G |
10: 127,122,741 (GRCm39) |
C103R |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,321,030 (GRCm39) |
N2047S |
probably benign |
Het |
Nefh |
C |
T |
11: 4,895,184 (GRCm39) |
S335N |
possibly damaging |
Het |
Obscn |
G |
T |
11: 58,934,803 (GRCm39) |
H4715N |
probably damaging |
Het |
Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
Or6d13 |
G |
A |
6: 116,518,295 (GRCm39) |
V294I |
possibly damaging |
Het |
Or8g34 |
T |
A |
9: 39,372,772 (GRCm39) |
F12Y |
probably benign |
Het |
Pck1 |
A |
G |
2: 172,997,003 (GRCm39) |
E215G |
probably benign |
Het |
Peg12 |
T |
A |
7: 62,113,308 (GRCm39) |
E263V |
unknown |
Het |
Phkg1 |
T |
A |
5: 129,903,103 (GRCm39) |
T15S |
probably benign |
Het |
Plekhg1 |
T |
A |
10: 3,914,076 (GRCm39) |
L1120* |
probably null |
Het |
Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
Rnf112 |
T |
A |
11: 61,343,181 (GRCm39) |
R165W |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,293,401 (GRCm39) |
T51A |
probably benign |
Het |
Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,414,851 (GRCm39) |
V2087A |
probably benign |
Het |
Rpl7a |
A |
G |
2: 26,801,563 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
Skor1 |
T |
G |
9: 63,053,133 (GRCm39) |
T279P |
probably damaging |
Het |
Son |
A |
T |
16: 91,456,221 (GRCm39) |
E1656V |
probably damaging |
Het |
Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
Treh |
T |
C |
9: 44,594,910 (GRCm39) |
V262A |
probably benign |
Het |
Trpm4 |
A |
G |
7: 44,954,370 (GRCm39) |
|
probably null |
Het |
Ugt8a |
T |
C |
3: 125,708,739 (GRCm39) |
I124V |
probably benign |
Het |
Wdr53 |
T |
C |
16: 32,075,473 (GRCm39) |
V226A |
probably damaging |
Het |
Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
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 |
|
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 |
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'- ACATGCCAACACTGGATCGACG -3'
(R):5'- TTGCCAAGCACCTGCCTTAGATAC -3'
Sequencing Primer
(F):5'- CGTCAGAGGCATCGAGTAAG -3'
(R):5'- TAGCTCTCCCCTGGGAGTG -3'
|
Posted On |
2013-08-06 |