Incidental Mutation 'R5334:Rnf220'
| ID |
423393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf220
|
| Ensembl Gene |
ENSMUSG00000028677 |
| Gene Name |
ring finger protein 220 |
| Synonyms |
5730503K05Rik, 4931406I20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.896)
|
| Stock # |
R5334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117128660-117354249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117129548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 294
(C294R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152367
(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: C552R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: C552R
| 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: C339R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677
AA Change: C339R
| 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: C231R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677
AA Change: C231R
| 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 |
noncoding transcript
Transcript: ENSMUST00000154449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151829
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221654
AA Change: C294R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223371
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ap4s1 |
C |
T |
12: 51,785,454 (GRCm39) |
S142L |
probably benign |
Het |
| Apol11a |
A |
G |
15: 77,400,953 (GRCm39) |
T147A |
probably benign |
Het |
| Aqp9 |
T |
C |
9: 71,030,292 (GRCm39) |
|
probably null |
Het |
| Arhgap25 |
T |
A |
6: 87,440,243 (GRCm39) |
N468I |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,553,636 (GRCm39) |
S924R |
probably damaging |
Het |
| Atad3a |
A |
T |
4: 155,840,146 (GRCm39) |
L144Q |
probably damaging |
Het |
| Ccbe1 |
T |
C |
18: 66,216,316 (GRCm39) |
I136V |
probably damaging |
Het |
| Col24a1 |
C |
A |
3: 145,167,280 (GRCm39) |
P1119Q |
possibly damaging |
Het |
| Dgkd |
T |
C |
1: 87,865,989 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
G |
1: 53,542,805 (GRCm39) |
I2455T |
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,178,643 (GRCm39) |
T1795A |
probably benign |
Het |
| Dpp6 |
A |
T |
5: 27,914,538 (GRCm39) |
E541V |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,825,793 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,455,465 (GRCm39) |
V573A |
probably damaging |
Het |
| Fech |
A |
C |
18: 64,597,191 (GRCm39) |
V256G |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gal3st4 |
T |
G |
5: 138,263,983 (GRCm39) |
K339Q |
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,832,316 (GRCm39) |
S1139T |
probably benign |
Het |
| Gpr180 |
A |
T |
14: 118,397,468 (GRCm39) |
S321C |
probably damaging |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Grin2c |
T |
G |
11: 115,146,881 (GRCm39) |
N438T |
possibly damaging |
Het |
| Hcn2 |
T |
C |
10: 79,562,125 (GRCm39) |
S374P |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,631,123 (GRCm39) |
I892F |
probably damaging |
Het |
| Ifi207 |
C |
T |
1: 173,555,097 (GRCm39) |
V869I |
probably benign |
Het |
| Itgad |
T |
C |
7: 127,788,458 (GRCm39) |
Y390H |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj15 |
A |
G |
16: 95,097,508 (GRCm39) |
K377E |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,897,073 (GRCm39) |
S276P |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,968 (GRCm39) |
D280G |
probably damaging |
Het |
| Lmnb2 |
C |
T |
10: 80,739,791 (GRCm39) |
V376I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,504,699 (GRCm39) |
Q2423R |
probably benign |
Het |
| Mepce |
T |
A |
5: 137,784,889 (GRCm39) |
R29S |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,292,535 (GRCm39) |
|
probably null |
Het |
| Mlip |
T |
A |
9: 77,150,958 (GRCm39) |
T33S |
probably damaging |
Het |
| Msantd5f6 |
T |
A |
4: 73,321,754 (GRCm39) |
M94L |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Ncapg2 |
T |
C |
12: 116,390,257 (GRCm39) |
I402T |
probably damaging |
Het |
| Or2aj6 |
C |
G |
16: 19,443,241 (GRCm39) |
G203A |
probably benign |
Het |
| Or5m13b |
T |
C |
2: 85,754,058 (GRCm39) |
Y149H |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,439,215 (GRCm39) |
D1301G |
probably benign |
Het |
| Pilrb1 |
T |
C |
5: 137,853,165 (GRCm39) |
M213V |
probably benign |
Het |
| Plxdc1 |
T |
C |
11: 97,846,931 (GRCm39) |
T163A |
possibly damaging |
Het |
| Pnpla2 |
T |
C |
7: 141,039,406 (GRCm39) |
L373P |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,665 (GRCm39) |
Y52H |
probably damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,059,809 (GRCm39) |
D903G |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,034 (GRCm39) |
F228S |
probably damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,364 (GRCm39) |
E1025G |
possibly damaging |
Het |
| Sult1c2 |
T |
G |
17: 54,271,758 (GRCm39) |
D143A |
probably damaging |
Het |
| Taar1 |
T |
G |
10: 23,796,443 (GRCm39) |
I47R |
probably damaging |
Het |
| Tctn3 |
G |
T |
19: 40,591,266 (GRCm39) |
Q514K |
probably benign |
Het |
| Tg |
T |
C |
15: 66,549,904 (GRCm39) |
F222S |
probably damaging |
Het |
| Tmem236 |
C |
A |
2: 14,223,871 (GRCm39) |
T220K |
possibly damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn1r237 |
T |
C |
17: 21,534,942 (GRCm39) |
F222L |
probably benign |
Het |
| Wrap73 |
G |
A |
4: 154,229,731 (GRCm39) |
R34Q |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,899,803 (GRCm39) |
Y52C |
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 |
|
|
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 |
|
|
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'- AAAGAGGCATGGTCCCCAAG -3'
(R):5'- CATGTCTGCCTGCTCAGAAG -3'
Sequencing Primer
(F):5'- GCATGGTCCCCAAGTTCAGAAG -3'
(R):5'- AGCCTGGCTGACAAGAAT -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation