Incidental Mutation 'R1327:Rnf111'
| ID |
157248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf111
|
| Ensembl Gene |
ENSMUSG00000032217 |
| Gene Name |
ring finger 111 |
| Synonyms |
Arkadia |
| MMRRC Submission |
039393-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1327 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
70332706-70411007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70361098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 454
(D454E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034739]
[ENSMUST00000113595]
[ENSMUST00000213647]
[ENSMUST00000215848]
|
| AlphaFold |
Q99ML9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034739
AA Change: D454E
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: D454E
| 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 benign
Transcript: ENSMUST00000113595
AA Change: D454E
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: D454E
| 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 |
possibly damaging
Transcript: ENSMUST00000213647
AA Change: D454E
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213694
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215848
AA Change: D454E
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215948
|
| Meta Mutation Damage Score |
0.0745 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 88.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd3 |
T |
C |
1: 180,560,748 (GRCm39) |
F99L |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,796,702 (GRCm39) |
|
probably null |
Het |
| Bsnd |
C |
T |
4: 106,343,809 (GRCm39) |
E166K |
probably benign |
Het |
| Cxcl9 |
A |
G |
5: 92,474,709 (GRCm39) |
C30R |
probably damaging |
Het |
| Ect2l |
C |
T |
10: 18,041,290 (GRCm39) |
R296H |
probably benign |
Het |
| Epha5 |
C |
A |
5: 84,254,644 (GRCm39) |
D632Y |
probably damaging |
Het |
| Fbxw11 |
T |
C |
11: 32,661,859 (GRCm39) |
Y79H |
probably benign |
Het |
| Fh1 |
A |
G |
1: 175,437,310 (GRCm39) |
M263T |
probably benign |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,177 (GRCm39) |
I245N |
possibly damaging |
Het |
| Ms4a13 |
A |
T |
19: 11,161,251 (GRCm39) |
I96N |
probably damaging |
Het |
| Nipa2 |
G |
A |
7: 55,594,256 (GRCm39) |
L38F |
possibly damaging |
Het |
| Pappa |
T |
A |
4: 65,269,840 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rp1 |
C |
T |
1: 4,418,193 (GRCm39) |
G973D |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,408,376 (GRCm39) |
V922A |
possibly damaging |
Het |
| Setbp1 |
T |
C |
18: 78,826,573 (GRCm39) |
M1347V |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,016 (GRCm39) |
I130V |
probably benign |
Het |
| Smad7 |
T |
C |
18: 75,509,016 (GRCm39) |
S48P |
probably benign |
Het |
| Star |
A |
G |
8: 26,299,865 (GRCm39) |
D69G |
probably benign |
Het |
| Syne1 |
C |
A |
10: 4,998,925 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
A |
T |
16: 90,743,743 (GRCm39) |
N1212K |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,556 (GRCm39) |
M721V |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,934,678 (GRCm39) |
D223G |
possibly damaging |
Het |
| Vit |
G |
A |
17: 78,932,629 (GRCm39) |
D579N |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,464,173 (GRCm39) |
|
probably benign |
Het |
| Zfp1005 |
A |
T |
2: 150,108,070 (GRCm39) |
H10L |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,724,189 (GRCm39) |
E2064G |
probably damaging |
Het |
| Zftraf1 |
T |
A |
15: 76,533,376 (GRCm39) |
T121S |
probably damaging |
Het |
| Zic5 |
T |
G |
14: 122,697,191 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,784,240 (GRCm39) |
|
probably null |
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 |
|
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'- GGCCATGCTGCTGAAAACAACTTG -3'
(R):5'- GCCAGATACTCATTGAGGTGGATGC -3'
Sequencing Primer
(F):5'- GAGTGTGGGTGTGCTAATGC -3'
(R):5'- TGTGTTAAGCACATGGCACC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation