Incidental Mutation 'R1404:Rnf43'
ID 500228
Institutional Source Beutler Lab
Gene Symbol Rnf43
Ensembl Gene ENSMUSG00000034177
Gene Name ring finger protein 43
Synonyms 4732452J19Rik
MMRRC Submission 039466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R1404 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 87553913-87626365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87625003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 737 (E737G)
Ref Sequence ENSEMBL: ENSMUSP00000112748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040089] [ENSMUST00000092800] [ENSMUST00000093955] [ENSMUST00000121782] [ENSMUST00000165679] [ENSMUST00000141169] [ENSMUST00000152700]
AlphaFold Q5NCP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000040089
AA Change: E651G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: E651G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000092800
AA Change: E778G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: E778G

DomainStartEndE-ValueType
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: ENSMUST00000093955
SMART Domains Protein: ENSMUSP00000091487
Gene: ENSMUSG00000020485

DomainStartEndE-ValueType
Spt4 13 90 3.22e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121782
AA Change: E737G

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: E737G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000165679
AA Change: E778G

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: E778G

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000150866
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162740
Predicted Effect probably benign
Transcript: ENSMUST00000141169
SMART Domains Protein: ENSMUSP00000117762
Gene: ENSMUSG00000020485

DomainStartEndE-ValueType
Pfam:Spt4 13 76 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152700
SMART Domains Protein: ENSMUSP00000118619
Gene: ENSMUSG00000020485

DomainStartEndE-ValueType
Spt4 13 73 7.28e-10 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 96.4%
  • 10x: 81.1%
  • 20x: 48.7%
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l1 A T 6: 48,952,767 (GRCm39) T231S probably benign Het
Arrdc3 A G 13: 81,031,973 (GRCm39) T69A probably damaging Het
Bbs2 T C 8: 94,808,627 (GRCm39) K360R probably null Het
Cdh8 A T 8: 100,006,250 (GRCm39) N112K probably damaging Het
Ces5a A T 8: 94,228,809 (GRCm39) F474I probably damaging Het
Dync1i1 G A 6: 5,915,876 (GRCm39) D253N probably damaging Het
Fam151b T C 13: 92,610,480 (GRCm39) D103G probably damaging Het
Fam227b A G 2: 125,845,759 (GRCm39) L410P probably damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Ihh A T 1: 74,990,372 (GRCm39) M1K probably null Het
Itga6 A G 2: 71,669,060 (GRCm39) T617A probably benign Het
Itpr1 T A 6: 108,363,609 (GRCm39) C744S probably benign Het
Kif5a T C 10: 127,081,311 (GRCm39) I208V probably benign Het
Lama4 A G 10: 38,937,387 (GRCm39) K659R probably benign Het
Lpin3 T A 2: 160,734,310 (GRCm39) probably null Het
Macf1 T A 4: 123,270,309 (GRCm39) E6612V probably damaging Het
Ncdn T C 4: 126,643,833 (GRCm39) K330E probably benign Het
Neb C T 2: 52,073,287 (GRCm39) D1975N possibly damaging Het
Nell1 T A 7: 50,503,621 (GRCm39) N675K possibly damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,504,026 (GRCm39) probably benign Het
Or4f47 G A 2: 111,972,968 (GRCm39) R226H probably benign Het
Sardh C A 2: 27,129,473 (GRCm39) W275L probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Sipa1l2 G A 8: 126,176,712 (GRCm39) H1185Y probably damaging Het
Skp2 G A 15: 9,117,012 (GRCm39) Q298* probably null Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Stx12 T A 4: 132,598,960 (GRCm39) I43L probably benign Het
Tmc1 T A 19: 20,793,548 (GRCm39) I538F possibly damaging Het
Tollip T C 7: 141,438,292 (GRCm39) M209V probably benign Het
Ttn A T 2: 76,643,312 (GRCm39) S13202R probably damaging Het
Vmn2r60 T A 7: 41,786,211 (GRCm39) V338D probably damaging Het
Vwa8 T C 14: 79,263,471 (GRCm39) L767P probably damaging Het
Zfp202 C T 9: 40,122,792 (GRCm39) T518I probably damaging Het
Other mutations in Rnf43
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6511:Rnf43 UTSW 11 87,622,989 (GRCm39) missense probably benign 0.01
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
Posted On 2017-12-01