Incidental Mutation 'R4711:Ring1'
| ID |
353285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ring1
|
| Ensembl Gene |
ENSMUSG00000024325 |
| Gene Name |
ring finger protein 1 |
| Synonyms |
Ring1A |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
R4711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34239766-34243654 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34241333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 261
(E261G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025183
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025183]
[ENSMUST00000045467]
[ENSMUST00000114303]
|
| AlphaFold |
O35730 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025183
AA Change: E261G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000025183
Gene: ENSMUSG00000024325
AA Change: E261G
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
48 |
87 |
7.92e-8 |
SMART |
|
low complexity region
|
171 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
261 |
N/A |
INTRINSIC |
|
Pfam:RAWUL
|
272 |
400 |
4.8e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045467
|
| SMART Domains |
Protein: ENSMUSP00000038069
Gene: ENSMUSG00000073422
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
201 |
1.5e-16 |
PFAM |
|
Pfam:adh_short
|
10 |
213 |
4.5e-52 |
PFAM |
|
Pfam:adh_short_C2
|
16 |
258 |
8.6e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083621
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114303
|
| SMART Domains |
Protein: ENSMUSP00000133546
Gene: ENSMUSG00000073422
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
10 |
202 |
5.5e-16 |
PFAM |
|
Pfam:adh_short
|
22 |
193 |
2.7e-30 |
PFAM |
|
Pfam:adh_short_C2
|
23 |
234 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170644
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172739
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174851
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173425
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174399
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]
PHENOTYPE: Both homozygous and heterozygous mutant mice show axial skeleton defects including anterior transformations of vertebrae and rib abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,366,288 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
A |
G |
6: 61,288,910 (GRCm39) |
N358D |
possibly damaging |
Het |
| Col20a1 |
G |
C |
2: 180,634,284 (GRCm39) |
G83A |
probably damaging |
Het |
| Copa |
T |
G |
1: 171,947,555 (GRCm39) |
F1124V |
probably damaging |
Het |
| Cyp2c66 |
G |
A |
19: 39,151,843 (GRCm39) |
R186H |
possibly damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,358,208 (GRCm39) |
T323M |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,618 (GRCm39) |
I664V |
possibly damaging |
Het |
| Erp29 |
A |
G |
5: 121,583,293 (GRCm39) |
I211T |
possibly damaging |
Het |
| Exd1 |
A |
G |
2: 119,369,232 (GRCm39) |
S128P |
possibly damaging |
Het |
| Grik4 |
T |
A |
9: 42,540,389 (GRCm39) |
N264Y |
probably damaging |
Het |
| Gsdma2 |
T |
A |
11: 98,540,439 (GRCm39) |
S119R |
probably damaging |
Het |
| H2ac1 |
C |
T |
13: 24,118,796 (GRCm39) |
P118S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,313,691 (GRCm39) |
|
probably null |
Het |
| Ino80c |
T |
C |
18: 24,247,222 (GRCm39) |
N59S |
probably benign |
Het |
| Maob |
T |
C |
X: 16,582,662 (GRCm39) |
T400A |
probably benign |
Het |
| Mast4 |
A |
G |
13: 103,470,627 (GRCm39) |
V25A |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,012,336 (GRCm39) |
T193A |
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,399,770 (GRCm39) |
F414L |
unknown |
Het |
| Nat10 |
A |
T |
2: 103,578,612 (GRCm39) |
C197* |
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,420,093 (GRCm39) |
K11E |
probably damaging |
Het |
| Or5k8 |
A |
T |
16: 58,645,069 (GRCm39) |
M1K |
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,370 (GRCm39) |
I173V |
probably damaging |
Het |
| Pak5 |
A |
G |
2: 135,929,437 (GRCm39) |
I582T |
probably damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,153,976 (GRCm39) |
I232V |
probably benign |
Het |
| Pde8b |
T |
A |
13: 95,166,958 (GRCm39) |
T664S |
probably benign |
Het |
| Pdik1l |
G |
C |
4: 134,006,301 (GRCm39) |
R214G |
probably benign |
Het |
| Prss37 |
C |
T |
6: 40,492,381 (GRCm39) |
V157M |
probably benign |
Het |
| Psma5-ps |
A |
G |
10: 85,149,667 (GRCm39) |
|
noncoding transcript |
Het |
| Sf3a3 |
C |
A |
4: 124,621,974 (GRCm39) |
D371E |
probably benign |
Het |
| Spag9 |
T |
A |
11: 94,005,177 (GRCm39) |
|
probably null |
Het |
| Spred1 |
T |
A |
2: 117,005,866 (GRCm39) |
S209R |
probably benign |
Het |
| Tas2r121 |
T |
C |
6: 132,677,853 (GRCm39) |
T40A |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,537 (GRCm39) |
T187A |
probably damaging |
Het |
| Tenm2 |
C |
T |
11: 36,191,039 (GRCm39) |
V311I |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,527 (GRCm39) |
V683A |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,167 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,660,404 (GRCm39) |
A7439V |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,626,795 (GRCm39) |
I838T |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 63,861,536 (GRCm39) |
T183A |
probably benign |
Het |
|
| Other mutations in Ring1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Ring1
|
APN |
17 |
34,241,983 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01734:Ring1
|
APN |
17 |
34,242,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Ring1
|
APN |
17 |
34,242,122 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4762:Ring1
|
UTSW |
17 |
34,240,971 (GRCm39) |
unclassified |
probably benign |
|
|
R4770:Ring1
|
UTSW |
17 |
34,242,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4779:Ring1
|
UTSW |
17 |
34,241,263 (GRCm39) |
unclassified |
probably benign |
|
|
R4935:Ring1
|
UTSW |
17 |
34,242,016 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5561:Ring1
|
UTSW |
17 |
34,240,432 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5772:Ring1
|
UTSW |
17 |
34,241,282 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6235:Ring1
|
UTSW |
17 |
34,242,280 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7060:Ring1
|
UTSW |
17 |
34,242,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7115:Ring1
|
UTSW |
17 |
34,242,420 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7363:Ring1
|
UTSW |
17 |
34,243,336 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7380:Ring1
|
UTSW |
17 |
34,240,694 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7556:Ring1
|
UTSW |
17 |
34,240,688 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7703:Ring1
|
UTSW |
17 |
34,242,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9289:Ring1
|
UTSW |
17 |
34,241,547 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9716:Ring1
|
UTSW |
17 |
34,240,420 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Ring1
|
UTSW |
17 |
34,240,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAAAAGTTCTGGCTGGG -3'
(R):5'- ATGTAAGCTCTGACTCCGCC -3'
Sequencing Primer
(F):5'- TGTATGCATGCTTGACAGACACC -3'
(R):5'- AGACTCTGCTCCAGGCC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation