Incidental Mutation 'R1107:Rnf220'
| ID |
98505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf220
|
| Ensembl Gene |
ENSMUSG00000028677 |
| Gene Name |
ring finger protein 220 |
| Synonyms |
5730503K05Rik, 4931406I20Rik |
| MMRRC Submission |
039180-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.876)
|
| Stock # |
R1107 (G1)
|
| Quality Score |
180 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
117128660-117354249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117142587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 114
(G114V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030439]
[ENSMUST00000094853]
[ENSMUST00000102690]
[ENSMUST00000221654]
|
| AlphaFold |
Q6PDX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030439
AA Change: G372V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677
AA Change: G372V
| 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 damaging
Transcript: ENSMUST00000094853
AA Change: G159V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677
AA Change: G159V
| 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: G51V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677
AA Change: G51V
| 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 |
unknown
Transcript: ENSMUST00000151829
AA Change: G28V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154974
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221654
AA Change: G114V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223182
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck2 |
T |
C |
6: 39,562,719 (GRCm39) |
V530A |
possibly damaging |
Het |
| Apba2 |
G |
A |
7: 64,395,467 (GRCm39) |
V636I |
possibly damaging |
Het |
| Cacna1b |
G |
A |
2: 24,587,615 (GRCm39) |
A625V |
probably damaging |
Het |
| Ccdc134 |
C |
A |
15: 82,018,892 (GRCm39) |
R141S |
possibly damaging |
Het |
| Ccdc134 |
T |
A |
15: 82,018,895 (GRCm39) |
W142R |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Dlg1 |
A |
G |
16: 31,665,734 (GRCm39) |
E697G |
probably benign |
Het |
| Fezf2 |
A |
T |
14: 12,342,624 (GRCm38) |
C414S |
probably damaging |
Het |
| Kif26b |
A |
C |
1: 178,745,238 (GRCm39) |
N1778T |
probably benign |
Het |
| Lrp1 |
T |
C |
10: 127,393,304 (GRCm39) |
Y2683C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,564,791 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,727,883 (GRCm39) |
|
probably benign |
Het |
| Tasor |
C |
T |
14: 27,201,680 (GRCm39) |
Q49* |
probably null |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
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 |
|
|
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'- TAATATGCACATCACAGGCGGGCAG -3'
(R):5'- AGTGTATTTCACGGGAGCCCTTTGG -3'
Sequencing Primer
(F):5'- GCAGCACGGTCACAAAG -3'
(R):5'- GAGCCCTTTGGTATCCTGAGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation