Incidental Mutation 'R6511:Rnf43'
| ID |
519926 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rnf43
|
| Ensembl Gene |
ENSMUSG00000034177 |
| Gene Name |
ring finger protein 43 |
| Synonyms |
4732452J19Rik |
| MMRRC Submission |
044639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6511 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
87553913-87626365 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87622989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 697
(V697I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040089]
[ENSMUST00000092800]
[ENSMUST00000121782]
[ENSMUST00000165679]
|
| AlphaFold |
Q5NCP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040089
AA Change: V570I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: V570I
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4KNG|F
|
1 |
71 |
7e-32 |
PDB |
|
transmembrane domain
|
72 |
91 |
N/A |
INTRINSIC |
|
RING
|
145 |
185 |
6.43e-8 |
SMART |
|
low complexity region
|
337 |
351 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
491 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
654 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092800
AA Change: V697I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: V697I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
PDB:4KNG|F
|
44 |
198 |
6e-93 |
PDB |
|
transmembrane domain
|
199 |
218 |
N/A |
INTRINSIC |
|
RING
|
272 |
312 |
6.43e-8 |
SMART |
|
low complexity region
|
464 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
781 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121782
AA Change: V656I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: V656I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
PDB:4KNG|F
|
44 |
157 |
6e-54 |
PDB |
|
transmembrane domain
|
158 |
177 |
N/A |
INTRINSIC |
|
RING
|
231 |
271 |
6.43e-8 |
SMART |
|
low complexity region
|
423 |
437 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
506 |
517 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
602 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
740 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150866
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162740
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165679
AA Change: V697I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: V697I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
PDB:4KNG|F
|
44 |
198 |
6e-93 |
PDB |
|
transmembrane domain
|
199 |
218 |
N/A |
INTRINSIC |
|
RING
|
272 |
312 |
6.43e-8 |
SMART |
|
low complexity region
|
464 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
547 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
618 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
781 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
100% (39/39) |
| 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 RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,195,344 (GRCm39) |
H718Y |
probably damaging |
Het |
| Abcc8 |
G |
A |
7: 45,800,285 (GRCm39) |
T499I |
possibly damaging |
Het |
| Azin2 |
C |
A |
4: 128,828,259 (GRCm39) |
R316L |
probably damaging |
Het |
| Cep85l |
C |
T |
10: 53,154,188 (GRCm39) |
V702I |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,667,220 (GRCm39) |
C442S |
probably damaging |
Het |
| Commd3 |
G |
A |
2: 18,679,650 (GRCm39) |
G148R |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,087,135 (GRCm39) |
T1252A |
probably benign |
Het |
| Cyp4a30b |
A |
T |
4: 115,313,905 (GRCm39) |
D162V |
probably damaging |
Het |
| Exoc3l |
G |
T |
8: 106,019,887 (GRCm39) |
T346K |
probably benign |
Het |
| Gas8 |
T |
C |
8: 124,250,896 (GRCm39) |
V123A |
probably benign |
Het |
| Hmcn2 |
T |
G |
2: 31,246,354 (GRCm39) |
D774E |
possibly damaging |
Het |
| Itga1 |
G |
T |
13: 115,129,037 (GRCm39) |
S540R |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,231,225 (GRCm39) |
N1145S |
probably damaging |
Het |
| Kcnc2 |
C |
T |
10: 112,297,972 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
G |
A |
19: 3,702,296 (GRCm39) |
R174W |
probably damaging |
Het |
| Lrrn4 |
T |
G |
2: 132,712,246 (GRCm39) |
S526R |
probably benign |
Het |
| Map3k6 |
G |
A |
4: 132,975,389 (GRCm39) |
R708H |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,533,810 (GRCm39) |
T154A |
probably benign |
Het |
| Mrtfb |
T |
A |
16: 13,197,714 (GRCm39) |
S66R |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,949 (GRCm39) |
A320S |
possibly damaging |
Het |
| Nos2 |
A |
G |
11: 78,846,290 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,272,266 (GRCm39) |
L198P |
probably damaging |
Het |
| Or9g4 |
A |
G |
2: 85,505,184 (GRCm39) |
S104P |
possibly damaging |
Het |
| Pip5k1c |
T |
C |
10: 81,146,651 (GRCm39) |
Y44H |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,798,001 (GRCm39) |
E972G |
probably damaging |
Het |
| Prdm12 |
T |
C |
2: 31,530,321 (GRCm39) |
S71P |
probably damaging |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,182,725 (GRCm39) |
L1467P |
probably damaging |
Het |
| Rpl7 |
C |
A |
1: 16,173,889 (GRCm39) |
A12S |
probably benign |
Het |
| Slc25a54 |
T |
G |
3: 109,001,572 (GRCm39) |
I120S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,119,652 (GRCm39) |
H370R |
probably damaging |
Het |
| Speer1d |
A |
G |
5: 11,307,275 (GRCm39) |
Y51C |
probably benign |
Het |
| Sv2c |
C |
T |
13: 96,185,033 (GRCm39) |
V215I |
probably benign |
Het |
| Synpo2l |
T |
C |
14: 20,712,518 (GRCm39) |
E34G |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,467,140 (GRCm39) |
C703* |
probably null |
Het |
| Vmn1r158 |
T |
C |
7: 22,490,116 (GRCm39) |
K31R |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Zfp2 |
A |
T |
11: 50,791,234 (GRCm39) |
C270S |
probably damaging |
Het |
|
| Other mutations in Rnf43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01077:Rnf43
|
APN |
11 |
87,622,718 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01520:Rnf43
|
APN |
11 |
87,555,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01541:Rnf43
|
APN |
11 |
87,621,046 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL01784:Rnf43
|
APN |
11 |
87,622,632 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02037:Rnf43
|
APN |
11 |
87,622,479 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02725:Rnf43
|
APN |
11 |
87,622,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Rnf43
|
APN |
11 |
87,623,130 (GRCm39) |
nonsense |
probably null |
|
|
R0226:Rnf43
|
UTSW |
11 |
87,622,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Rnf43
|
UTSW |
11 |
87,622,108 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0834:Rnf43
|
UTSW |
11 |
87,622,077 (GRCm39) |
missense |
probably benign |
|
|
R1163:Rnf43
|
UTSW |
11 |
87,620,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1203:Rnf43
|
UTSW |
11 |
87,618,301 (GRCm39) |
splice site |
probably benign |
|
|
R1314:Rnf43
|
UTSW |
11 |
87,623,145 (GRCm39) |
missense |
probably benign |
|
|
R1404:Rnf43
|
UTSW |
11 |
87,625,003 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1404:Rnf43
|
UTSW |
11 |
87,625,003 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1469:Rnf43
|
UTSW |
11 |
87,622,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Rnf43
|
UTSW |
11 |
87,622,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Rnf43
|
UTSW |
11 |
87,622,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1513:Rnf43
|
UTSW |
11 |
87,620,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1614:Rnf43
|
UTSW |
11 |
87,622,485 (GRCm39) |
nonsense |
probably null |
|
|
R1615:Rnf43
|
UTSW |
11 |
87,622,485 (GRCm39) |
nonsense |
probably null |
|
|
R2341:Rnf43
|
UTSW |
11 |
87,622,851 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2410:Rnf43
|
UTSW |
11 |
87,623,085 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2847:Rnf43
|
UTSW |
11 |
87,623,093 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2849:Rnf43
|
UTSW |
11 |
87,623,093 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5567:Rnf43
|
UTSW |
11 |
87,618,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5943:Rnf43
|
UTSW |
11 |
87,622,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Rnf43
|
UTSW |
11 |
87,622,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Rnf43
|
UTSW |
11 |
87,623,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Rnf43
|
UTSW |
11 |
87,622,678 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7528:Rnf43
|
UTSW |
11 |
87,622,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8029:Rnf43
|
UTSW |
11 |
87,622,720 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8167:Rnf43
|
UTSW |
11 |
87,618,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8174:Rnf43
|
UTSW |
11 |
87,622,057 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8498:Rnf43
|
UTSW |
11 |
87,618,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8905:Rnf43
|
UTSW |
11 |
87,621,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Rnf43
|
UTSW |
11 |
87,622,111 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9562:Rnf43
|
UTSW |
11 |
87,618,891 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0064:Rnf43
|
UTSW |
11 |
87,618,168 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAACTTGCAGAAATCCAGCC -3'
(R):5'- TGAACACTCACCAGGTTGG -3'
Sequencing Primer
(F):5'- TTGCAGAAATCCAGCCTCACTG -3'
(R):5'- CTGGCAATGTGAGTAAGGACATCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation