Incidental Mutation 'R5500:Rnf111'
| ID |
430568 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf111
|
| Ensembl Gene |
ENSMUSG00000032217 |
| Gene Name |
ring finger 111 |
| Synonyms |
Arkadia |
| MMRRC Submission |
043061-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5500 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
70332706-70411007 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 70383325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 203
(G203C)
|
| 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: G203C
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034739
Gene: ENSMUSG00000032217
AA Change: G203C
| 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: G203C
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109225
Gene: ENSMUSG00000032217
AA Change: G203C
| 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: G203C
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213694
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215848
AA Change: G203C
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.6%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,451,508 (GRCm39) |
Q864L |
probably benign |
Het |
| AI182371 |
A |
G |
2: 34,990,650 (GRCm39) |
S16P |
probably damaging |
Het |
| Amy1 |
A |
T |
3: 113,356,371 (GRCm39) |
Y262N |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,150,090 (GRCm39) |
D2583G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,403,485 (GRCm39) |
K303E |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,948,841 (GRCm39) |
|
probably null |
Het |
| Evi5l |
T |
A |
8: 4,241,658 (GRCm39) |
M329K |
probably damaging |
Het |
| Fam169b |
A |
G |
7: 68,000,117 (GRCm39) |
D221G |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,447,761 (GRCm39) |
D126G |
probably damaging |
Het |
| Gm4847 |
A |
G |
1: 166,462,611 (GRCm39) |
I293T |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,318,687 (GRCm39) |
H463R |
possibly damaging |
Het |
| Iigp1c |
G |
A |
18: 60,379,092 (GRCm39) |
R209H |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,696 (GRCm39) |
D1101V |
possibly damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,033,008 (GRCm39) |
M98I |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,687,374 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,806,526 (GRCm39) |
V107E |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,513,873 (GRCm39) |
E584G |
probably damaging |
Het |
| Kpnb1 |
G |
A |
11: 97,063,937 (GRCm39) |
A389V |
possibly damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,173 (GRCm39) |
T2A |
possibly damaging |
Het |
| Lama3 |
A |
T |
18: 12,589,821 (GRCm39) |
I784F |
possibly damaging |
Het |
| Lpar1 |
G |
A |
4: 58,486,573 (GRCm39) |
R233C |
probably benign |
Het |
| Neb |
C |
A |
2: 52,052,079 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,824,337 (GRCm39) |
I697T |
possibly damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,016,006 (GRCm39) |
V85A |
possibly damaging |
Het |
| Pgm2l1 |
T |
G |
7: 99,917,340 (GRCm39) |
S486A |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,035,296 (GRCm39) |
S748R |
probably benign |
Het |
| Recql4 |
A |
G |
15: 76,589,778 (GRCm39) |
|
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,528 (GRCm39) |
T20A |
possibly damaging |
Het |
| Ric8a |
T |
C |
7: 140,438,228 (GRCm39) |
Y156H |
probably benign |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc2a12 |
G |
A |
10: 22,541,036 (GRCm39) |
G297E |
probably damaging |
Het |
| Slc35f1 |
A |
T |
10: 52,809,318 (GRCm39) |
I102F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,680 (GRCm39) |
Y364C |
probably damaging |
Het |
| Tdrd9 |
T |
C |
12: 111,989,702 (GRCm39) |
Y505H |
probably benign |
Het |
| Tlr1 |
G |
T |
5: 65,084,441 (GRCm39) |
D45E |
probably benign |
Het |
| Upp1 |
G |
A |
11: 9,081,774 (GRCm39) |
V104M |
probably damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,875 (GRCm39) |
V1330A |
probably damaging |
Het |
| Zbed5 |
T |
A |
5: 129,930,823 (GRCm39) |
Y257* |
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 |
|
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 |
|
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'- ACTCTTCCTTAAGTGAGTGTCTGTC -3'
Sequencing Primer
(F):5'- CATTCTCACTGGAGCTACTGGAG -3'
(R):5'- CTCATCTAGTCTCCATTTTGGGGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation