Incidental Mutation 'R2762:Rnf111'
| ID |
254103 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf111
|
| Ensembl Gene |
ENSMUSG00000032217 |
| Gene Name |
ring finger 111 |
| Synonyms |
Arkadia |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
70332706-70411007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70383327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 202
(H202L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034739]
[ENSMUST00000113595]
[ENSMUST00000213647]
[ENSMUST00000215848]
|
| AlphaFold |
Q99ML9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034739
AA Change: H202L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: H202L
| 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 |
noncoding transcript
Transcript: ENSMUST00000083268
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113595
AA Change: H202L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: H202L
| 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 |
possibly damaging
Transcript: ENSMUST00000213647
AA Change: H202L
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213694
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215848
AA Change: H202L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
A |
12: 112,748,984 (GRCm39) |
T288S |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,463,549 (GRCm39) |
L909P |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
| Dusp3 |
T |
C |
11: 101,865,661 (GRCm39) |
T178A |
probably benign |
Het |
| En2 |
T |
C |
5: 28,375,419 (GRCm39) |
S321P |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,323 (GRCm39) |
S146L |
probably benign |
Het |
| Gm9923 |
C |
A |
10: 72,145,460 (GRCm39) |
H104N |
probably benign |
Het |
| Igtp |
A |
G |
11: 58,096,891 (GRCm39) |
M21V |
possibly damaging |
Het |
| Irs2 |
T |
C |
8: 11,056,408 (GRCm39) |
S675G |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,596,713 (GRCm39) |
L138Q |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,749,936 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
A |
G |
17: 3,746,433 (GRCm39) |
V35A |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,899,956 (GRCm39) |
D274G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,056,486 (GRCm39) |
G4349S |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,645,234 (GRCm39) |
S1073R |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,237,451 (GRCm39) |
K77E |
possibly damaging |
Het |
| Prss1 |
T |
C |
6: 41,440,215 (GRCm39) |
V184A |
possibly damaging |
Het |
| S100pbp |
G |
A |
4: 129,049,219 (GRCm39) |
R308* |
probably null |
Het |
| Sgcb |
A |
T |
5: 73,793,052 (GRCm39) |
|
probably null |
Het |
| Spam1 |
T |
C |
6: 24,796,642 (GRCm39) |
F198L |
possibly damaging |
Het |
| Tbc1d4 |
A |
C |
14: 101,731,797 (GRCm39) |
C472G |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,514,820 (GRCm39) |
N1128S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,628,447 (GRCm39) |
R14571Q |
probably damaging |
Het |
| Tubb4a |
T |
A |
17: 57,387,974 (GRCm39) |
T351S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Wasl |
T |
C |
6: 24,619,500 (GRCm39) |
Y340C |
unknown |
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 |
|
|
R0760:Rnf111
|
UTSW |
9 |
70,336,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TCGCTGCTGAGGTCATTCTC -3'
(R):5'- TGACTCTTCCTTAAGTGAGTGTC -3'
Sequencing Primer
(F):5'- CATTCTCACTGGAGCTACTGGAG -3'
(R):5'- CTCATCTAGTCTCCATTTTGGGGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation