Incidental Mutation 'R5173:Rnf220'
ID |
398882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnf220
|
Ensembl Gene |
ENSMUSG00000028677 |
Gene Name |
ring finger protein 220 |
Synonyms |
5730503K05Rik, 4931406I20Rik |
MMRRC Submission |
042753-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.876)
|
Stock # |
R5173 (G1)
|
Quality Score |
120 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
117128660-117354249 bp(-) (GRCm39) |
Type of Mutation |
start gained |
DNA Base Change (assembly) |
T to C
at 117146471 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152367
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030439]
[ENSMUST00000094853]
[ENSMUST00000102690]
[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: 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 |
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: ENSMUST00000133971
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150148
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151829
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154974
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221654
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223182
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
AC |
A |
11: 9,632,032 (GRCm39) |
|
probably null |
Het |
Abca6 |
A |
T |
11: 110,082,546 (GRCm39) |
F1142L |
probably benign |
Het |
Ap1g1 |
T |
A |
8: 110,577,764 (GRCm39) |
|
probably null |
Het |
Apob |
T |
C |
12: 8,058,238 (GRCm39) |
V2207A |
probably benign |
Het |
Cenpp |
CAAACCTGAAAA |
CAAA |
13: 49,618,258 (GRCm39) |
|
probably null |
Het |
Chd3 |
A |
G |
11: 69,260,069 (GRCm39) |
|
probably benign |
Het |
Coch |
C |
A |
12: 51,643,290 (GRCm39) |
Y103* |
probably null |
Het |
Cul3 |
A |
T |
1: 80,259,133 (GRCm39) |
D382E |
possibly damaging |
Het |
Cul5 |
T |
C |
9: 53,554,034 (GRCm39) |
T291A |
probably benign |
Het |
Dab1 |
T |
C |
4: 104,545,645 (GRCm39) |
|
probably null |
Het |
Dmtf1 |
A |
G |
5: 9,190,356 (GRCm39) |
|
probably benign |
Het |
Dpp4 |
T |
C |
2: 62,217,474 (GRCm39) |
Y41C |
probably damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,238,841 (GRCm39) |
I45M |
probably damaging |
Het |
Epn3 |
T |
C |
11: 94,386,923 (GRCm39) |
K149R |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,455,537 (GRCm39) |
E2029G |
probably damaging |
Het |
Gm5799 |
A |
G |
14: 43,782,116 (GRCm39) |
N96S |
probably damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Grik5 |
T |
C |
7: 24,762,319 (GRCm39) |
H224R |
possibly damaging |
Het |
Lpar6 |
A |
T |
14: 73,476,537 (GRCm39) |
E166V |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,360,985 (GRCm39) |
L683P |
probably damaging |
Het |
Mis18bp1 |
T |
C |
12: 65,196,149 (GRCm39) |
I538M |
possibly damaging |
Het |
Mobp |
A |
G |
9: 119,997,311 (GRCm39) |
R77G |
possibly damaging |
Het |
Muc21 |
G |
T |
17: 35,931,633 (GRCm39) |
|
probably benign |
Het |
Mylk |
A |
G |
16: 34,797,383 (GRCm39) |
H1614R |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,334,713 (GRCm39) |
F12L |
probably benign |
Het |
Or4p18 |
G |
A |
2: 88,233,266 (GRCm39) |
T4I |
probably benign |
Het |
Or7c19 |
T |
C |
8: 85,957,205 (GRCm39) |
L27P |
probably damaging |
Het |
Osbpl1a |
C |
T |
18: 12,895,697 (GRCm39) |
V390I |
probably benign |
Het |
Pcdha7 |
C |
A |
18: 37,107,705 (GRCm39) |
D243E |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,168,770 (GRCm39) |
N653K |
possibly damaging |
Het |
Plin5 |
T |
G |
17: 56,422,548 (GRCm39) |
|
probably null |
Het |
Plod1 |
A |
G |
4: 148,000,758 (GRCm39) |
|
probably benign |
Het |
Psd3 |
T |
C |
8: 68,149,641 (GRCm39) |
K372E |
probably damaging |
Het |
Psmd11 |
C |
T |
11: 80,351,566 (GRCm39) |
T263I |
probably benign |
Het |
Ptprt |
A |
T |
2: 161,769,676 (GRCm39) |
N396K |
probably benign |
Het |
Rab39 |
T |
C |
9: 53,597,800 (GRCm39) |
E155G |
probably damaging |
Het |
Rimbp2 |
T |
C |
5: 128,874,712 (GRCm39) |
D293G |
probably benign |
Het |
Rnmt |
C |
T |
18: 68,454,430 (GRCm39) |
|
probably benign |
Het |
Slc10a1 |
T |
A |
12: 81,002,802 (GRCm39) |
I279F |
probably damaging |
Het |
Sp140l1 |
G |
A |
1: 85,078,288 (GRCm39) |
R54* |
probably null |
Het |
Taar6 |
A |
G |
10: 23,861,250 (GRCm39) |
Y99H |
probably damaging |
Het |
Tas2r144 |
T |
A |
6: 42,193,048 (GRCm39) |
F263I |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,061,768 (GRCm39) |
N399K |
possibly damaging |
Het |
Tlr9 |
T |
A |
9: 106,103,151 (GRCm39) |
V814D |
possibly damaging |
Het |
Tmem53 |
T |
A |
4: 117,122,908 (GRCm39) |
|
probably benign |
Het |
Ubap2l |
T |
C |
3: 89,928,337 (GRCm39) |
I511V |
possibly damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,844,935 (GRCm39) |
M766T |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,011,115 (GRCm39) |
V1027A |
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 |
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'- CTCACCATTCAGTCGGGTTTG -3'
(R):5'- ACGTGATCAGGGCCAACATG -3'
Sequencing Primer
(F):5'- AAATCCCGGGCAGATGC -3'
(R):5'- CCGGTGCTGGGAGCTGA -3'
|
Posted On |
2016-07-06 |