Incidental Mutation 'IGL02725:Rnf220'
| ID |
305192 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rnf220
|
| Ensembl Gene |
ENSMUSG00000028677 |
| Gene Name |
ring finger protein 220 |
| Synonyms |
5730503K05Rik, 4931406I20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
IGL02725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117128660-117354249 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 117129576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 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: ENSMUST00000062824
|
| SMART Domains |
Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF829
|
34 |
270 |
4.1e-62 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000102690
|
| SMART Domains |
Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677
| 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: ENSMUST00000154449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151829
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145836
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221654
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223371
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,611,445 (GRCm39) |
I414T |
possibly damaging |
Het |
| Agpat3 |
A |
C |
10: 78,113,889 (GRCm39) |
D266E |
probably benign |
Het |
| Alpk3 |
G |
T |
7: 80,743,358 (GRCm39) |
Q1058H |
possibly damaging |
Het |
| Atat1 |
A |
T |
17: 36,220,381 (GRCm39) |
V37E |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,119,344 (GRCm39) |
V124A |
probably damaging |
Het |
| Bmt2 |
T |
C |
6: 13,628,495 (GRCm39) |
E396G |
probably damaging |
Het |
| Ccdc50 |
T |
C |
16: 27,255,347 (GRCm39) |
C237R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,778,312 (GRCm39) |
I2790M |
possibly damaging |
Het |
| Chkb |
A |
G |
15: 89,313,340 (GRCm39) |
L82P |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,123,532 (GRCm39) |
Y1458H |
probably benign |
Het |
| Clp1 |
T |
A |
2: 84,554,208 (GRCm39) |
K320N |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,243,605 (GRCm39) |
|
probably benign |
Het |
| Cyp20a1 |
C |
T |
1: 60,405,865 (GRCm39) |
R220W |
probably benign |
Het |
| Cyp27a1 |
C |
T |
1: 74,774,862 (GRCm39) |
P268S |
probably damaging |
Het |
| Cyp2e1 |
T |
G |
7: 140,343,828 (GRCm39) |
I22S |
probably null |
Het |
| Defb34 |
A |
G |
8: 19,173,774 (GRCm39) |
T3A |
unknown |
Het |
| Dpy19l3 |
A |
T |
7: 35,411,343 (GRCm39) |
M422K |
probably benign |
Het |
| Eif4g3 |
A |
T |
4: 137,897,782 (GRCm39) |
|
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,571,758 (GRCm39) |
S7P |
probably damaging |
Het |
| Fam151a |
T |
G |
4: 106,605,211 (GRCm39) |
S524R |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,418,458 (GRCm39) |
V625E |
probably benign |
Het |
| Glmn |
G |
A |
5: 107,723,155 (GRCm39) |
P112S |
possibly damaging |
Het |
| Grm5 |
A |
C |
7: 87,723,873 (GRCm39) |
D721A |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,953,019 (GRCm39) |
V445A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,480,654 (GRCm39) |
E4507D |
possibly damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,295,540 (GRCm39) |
E2583A |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,440,867 (GRCm39) |
I49F |
probably benign |
Het |
| Ints8 |
A |
C |
4: 11,239,406 (GRCm39) |
C306W |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,695,655 (GRCm39) |
S540P |
probably damaging |
Het |
| Kctd1 |
A |
G |
18: 15,102,667 (GRCm39) |
V838A |
possibly damaging |
Het |
| Klk10 |
T |
C |
7: 43,431,044 (GRCm39) |
L29P |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,935,412 (GRCm39) |
I3627K |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 52,011,195 (GRCm39) |
S124P |
probably damaging |
Het |
| Nav2 |
A |
T |
7: 49,214,843 (GRCm39) |
K1632I |
probably damaging |
Het |
| Or2ab1 |
T |
C |
11: 58,488,690 (GRCm39) |
V156A |
probably benign |
Het |
| Pde2a |
G |
T |
7: 101,156,425 (GRCm39) |
M616I |
probably null |
Het |
| Pdia2 |
T |
C |
17: 26,415,506 (GRCm39) |
D440G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,471 (GRCm39) |
S14P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,079,031 (GRCm39) |
S383P |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,622,411 (GRCm39) |
D504G |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,900,589 (GRCm39) |
L1026* |
probably null |
Het |
| Slc1a4 |
A |
T |
11: 20,258,408 (GRCm39) |
S264T |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,886,055 (GRCm39) |
I739T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stat5b |
A |
T |
11: 100,695,840 (GRCm39) |
D47E |
possibly damaging |
Het |
| Taar7b |
A |
T |
10: 23,875,961 (GRCm39) |
Y42F |
probably benign |
Het |
| Tfdp2 |
T |
A |
9: 96,169,748 (GRCm39) |
I33K |
possibly damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,401,448 (GRCm39) |
H149R |
probably benign |
Het |
| Tmco6 |
A |
G |
18: 36,871,760 (GRCm39) |
M257V |
probably benign |
Het |
| Tuba8 |
G |
T |
6: 121,202,916 (GRCm39) |
G410* |
probably null |
Het |
| Ubd |
T |
A |
17: 37,504,853 (GRCm39) |
V4D |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 87,054,284 (GRCm39) |
V166I |
probably benign |
Het |
| Vmn2r70 |
C |
T |
7: 85,214,553 (GRCm39) |
V200I |
possibly damaging |
Het |
| Wdcp |
A |
T |
12: 4,901,206 (GRCm39) |
N354I |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,652,618 (GRCm39) |
Y410F |
possibly damaging |
Het |
| Zc3hav1 |
G |
T |
6: 38,309,127 (GRCm39) |
P565Q |
probably damaging |
Het |
| Zfp398 |
T |
C |
6: 47,842,737 (GRCm39) |
V131A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,579,063 (GRCm39) |
D144G |
possibly damaging |
Het |
| Zpbp |
T |
A |
11: 11,412,358 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation