Incidental Mutation 'R0760:Rnf111'
| ID |
70049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf111
|
| Ensembl Gene |
ENSMUSG00000032217 |
| Gene Name |
ring finger 111 |
| Synonyms |
Arkadia |
| MMRRC Submission |
038940-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70332706-70411007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70336960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 909
(V909A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109225
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034739]
[ENSMUST00000113595]
[ENSMUST00000213647]
[ENSMUST00000215848]
|
| AlphaFold |
Q99ML9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034739
AA Change: V909A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: V909A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNF111_N
|
18 |
290 |
2.5e-112 |
PFAM |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
935 |
N/A |
INTRINSIC |
|
RING
|
937 |
977 |
3e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113595
AA Change: V909A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: V909A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNF111_N
|
18 |
290 |
1.8e-97 |
PFAM |
|
low complexity region
|
340 |
355 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
758 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
820 |
837 |
N/A |
INTRINSIC |
|
low complexity region
|
924 |
935 |
N/A |
INTRINSIC |
|
RING
|
937 |
977 |
3e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213647
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213996
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215848
|
| Meta Mutation Damage Score |
0.1438 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.8%
- 20x: 92.8%
|
| Validation Efficiency |
95% (39/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trap allele fail to develop anterior structures and midline with failure to develop anterior endoderm, node and mesendoderm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013D24Rik |
A |
G |
6: 124,324,661 (GRCm39) |
V120A |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
| Alcam |
C |
T |
16: 52,116,035 (GRCm39) |
V180M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,402,118 (GRCm39) |
|
probably benign |
Het |
| Ccm2l |
A |
C |
2: 152,914,104 (GRCm39) |
N298T |
probably damaging |
Het |
| Ccni |
A |
G |
5: 93,331,188 (GRCm39) |
V261A |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cyb5d1 |
A |
G |
11: 69,285,999 (GRCm39) |
F41L |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,203,966 (GRCm39) |
|
probably null |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,216,119 (GRCm39) |
I33T |
probably benign |
Het |
| Grip1 |
T |
A |
10: 119,853,983 (GRCm39) |
S512T |
probably damaging |
Het |
| Gtpbp1 |
G |
A |
15: 79,603,356 (GRCm39) |
G140E |
probably damaging |
Het |
| Hspa4l |
T |
A |
3: 40,739,155 (GRCm39) |
L681* |
probably null |
Het |
| Hspg2 |
A |
G |
4: 137,239,660 (GRCm39) |
T456A |
probably damaging |
Het |
| Igkv3-1 |
A |
T |
6: 70,681,119 (GRCm39) |
D106V |
probably damaging |
Het |
| Inhbc |
C |
T |
10: 127,193,237 (GRCm39) |
G260S |
probably damaging |
Het |
| Itga2 |
C |
T |
13: 114,996,168 (GRCm39) |
V708I |
possibly damaging |
Het |
| Kif5c |
T |
C |
2: 49,578,765 (GRCm39) |
I131T |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,558,315 (GRCm39) |
Y1133H |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,920,429 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
G |
8: 87,573,540 (GRCm39) |
Y744H |
probably damaging |
Het |
| Or14j7 |
C |
T |
17: 38,235,005 (GRCm39) |
Q183* |
probably null |
Het |
| Or1n2 |
A |
G |
2: 36,797,233 (GRCm39) |
S92G |
probably benign |
Het |
| Ovol2 |
A |
G |
2: 144,173,679 (GRCm39) |
|
probably null |
Het |
| Pappa2 |
C |
A |
1: 158,544,531 (GRCm39) |
|
probably null |
Het |
| Pcdh10 |
G |
A |
3: 45,335,005 (GRCm39) |
E440K |
probably benign |
Het |
| Pcsk4 |
A |
G |
10: 80,161,775 (GRCm39) |
|
probably benign |
Het |
| Plcl2 |
A |
G |
17: 50,915,802 (GRCm39) |
N937S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,642,722 (GRCm39) |
F541L |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,596,805 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
C |
T |
10: 58,312,613 (GRCm39) |
P1111L |
possibly damaging |
Het |
| Rasal3 |
A |
G |
17: 32,611,146 (GRCm39) |
F929S |
probably benign |
Het |
| Rnf168 |
A |
G |
16: 32,117,204 (GRCm39) |
|
probably null |
Het |
| Slc2a5 |
T |
C |
4: 150,224,124 (GRCm39) |
L244P |
probably benign |
Het |
| Snta1 |
T |
A |
2: 154,222,860 (GRCm39) |
I288F |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,095,498 (GRCm39) |
C297Y |
probably damaging |
Het |
| Trim44 |
C |
T |
2: 102,230,905 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,200,805 (GRCm39) |
I1164N |
possibly damaging |
Het |
|
| Other mutations in Rnf111 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02473:Rnf111
|
APN |
9 |
70,348,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02567:Rnf111
|
APN |
9 |
70,366,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Rnf111
|
UTSW |
9 |
70,383,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0245:Rnf111
|
UTSW |
9 |
70,361,113 (GRCm39) |
splice site |
probably benign |
|
|
R1327:Rnf111
|
UTSW |
9 |
70,361,098 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1778:Rnf111
|
UTSW |
9 |
70,383,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1884:Rnf111
|
UTSW |
9 |
70,383,520 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1892:Rnf111
|
UTSW |
9 |
70,383,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Rnf111
|
UTSW |
9 |
70,383,673 (GRCm39) |
missense |
probably benign |
|
|
R2762:Rnf111
|
UTSW |
9 |
70,383,327 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3980:Rnf111
|
UTSW |
9 |
70,349,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Rnf111
|
UTSW |
9 |
70,336,866 (GRCm39) |
nonsense |
probably null |
|
|
R4631:Rnf111
|
UTSW |
9 |
70,357,678 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4804:Rnf111
|
UTSW |
9 |
70,338,239 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5153:Rnf111
|
UTSW |
9 |
70,383,422 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5500:Rnf111
|
UTSW |
9 |
70,383,325 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5546:Rnf111
|
UTSW |
9 |
70,366,378 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5975:Rnf111
|
UTSW |
9 |
70,336,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Rnf111
|
UTSW |
9 |
70,383,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6482:Rnf111
|
UTSW |
9 |
70,336,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Rnf111
|
UTSW |
9 |
70,360,957 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7239:Rnf111
|
UTSW |
9 |
70,376,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7444:Rnf111
|
UTSW |
9 |
70,348,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7618:Rnf111
|
UTSW |
9 |
70,410,614 (GRCm39) |
start gained |
probably benign |
|
|
R8068:Rnf111
|
UTSW |
9 |
70,365,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8323:Rnf111
|
UTSW |
9 |
70,383,204 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8444:Rnf111
|
UTSW |
9 |
70,365,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8997:Rnf111
|
UTSW |
9 |
70,383,545 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9108:Rnf111
|
UTSW |
9 |
70,336,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9774:Rnf111
|
UTSW |
9 |
70,334,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCTCGTGACCAGTTGATCC -3'
(R):5'- GTGTCAATCAGGCATTACCACTACATCC -3'
Sequencing Primer
(F):5'- gcactttgccactgagcc -3'
(R):5'- GCATTACCACTACATCCTGTCTAAAC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation