Incidental Mutation 'IGL02725:Rnf43'
ID 305146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf43
Ensembl Gene ENSMUSG00000034177
Gene Name ring finger protein 43
Synonyms 4732452J19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL02725
Quality Score
Status
Chromosome 11
Chromosomal Location 87553913-87626365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87622411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 504 (D504G)
Ref Sequence ENSEMBL: ENSMUSP00000130685 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040089] [ENSMUST00000092800] [ENSMUST00000121782] [ENSMUST00000165679]
AlphaFold Q5NCP0
Predicted Effect probably damaging
Transcript: ENSMUST00000040089
AA Change: D377G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: D377G

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 probably damaging
Transcript: ENSMUST00000092800
AA Change: D504G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: D504G

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 damaging
Transcript: ENSMUST00000121782
AA Change: D463G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: D463G

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 noncoding transcript
Transcript: ENSMUST00000150866
Predicted Effect probably damaging
Transcript: ENSMUST00000165679
AA Change: D504G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: D504G

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: ENSMUST00000162740
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,611,445 (GRCm39) I414T possibly damaging Het
Agpat3 A C 10: 78,113,889 (GRCm39) D266E probably benign Het
Alpk3 G T 7: 80,743,358 (GRCm39) Q1058H possibly damaging Het
Atat1 A T 17: 36,220,381 (GRCm39) V37E probably benign Het
Bcl6b A G 11: 70,119,344 (GRCm39) V124A probably damaging Het
Bmt2 T C 6: 13,628,495 (GRCm39) E396G probably damaging Het
Ccdc50 T C 16: 27,255,347 (GRCm39) C237R probably benign Het
Chd9 A G 8: 91,778,312 (GRCm39) I2790M possibly damaging Het
Chkb A G 15: 89,313,340 (GRCm39) L82P probably damaging Het
Cit T C 5: 116,123,532 (GRCm39) Y1458H probably benign Het
Clp1 T A 2: 84,554,208 (GRCm39) K320N probably benign Het
Cry2 T C 2: 92,243,605 (GRCm39) probably benign Het
Cyp20a1 C T 1: 60,405,865 (GRCm39) R220W probably benign Het
Cyp27a1 C T 1: 74,774,862 (GRCm39) P268S probably damaging Het
Cyp2e1 T G 7: 140,343,828 (GRCm39) I22S probably null Het
Defb34 A G 8: 19,173,774 (GRCm39) T3A unknown Het
Dpy19l3 A T 7: 35,411,343 (GRCm39) M422K probably benign Het
Eif4g3 A T 4: 137,897,782 (GRCm39) probably benign Het
Elmod3 A G 6: 72,571,758 (GRCm39) S7P probably damaging Het
Fam151a T G 4: 106,605,211 (GRCm39) S524R probably damaging Het
Gcc1 A T 6: 28,418,458 (GRCm39) V625E probably benign Het
Glmn G A 5: 107,723,155 (GRCm39) P112S possibly damaging Het
Grm5 A C 7: 87,723,873 (GRCm39) D721A probably damaging Het
Hivep3 T C 4: 119,953,019 (GRCm39) V445A possibly damaging Het
Hmcn1 T A 1: 150,480,654 (GRCm39) E4507D possibly damaging Het
Hmcn2 A C 2: 31,295,540 (GRCm39) E2583A probably damaging Het
Ifnb1 T A 4: 88,440,867 (GRCm39) I49F probably benign Het
Ints8 A C 4: 11,239,406 (GRCm39) C306W probably benign Het
Jakmip2 A G 18: 43,695,655 (GRCm39) S540P probably damaging Het
Kctd1 A G 18: 15,102,667 (GRCm39) V838A possibly damaging Het
Klk10 T C 7: 43,431,044 (GRCm39) L29P probably damaging Het
Lyst T A 13: 13,935,412 (GRCm39) I3627K probably damaging Het
Maml3 A G 3: 52,011,195 (GRCm39) S124P probably damaging Het
Nav2 A T 7: 49,214,843 (GRCm39) K1632I probably damaging Het
Or2ab1 T C 11: 58,488,690 (GRCm39) V156A probably benign Het
Pde2a G T 7: 101,156,425 (GRCm39) M616I probably null Het
Pdia2 T C 17: 26,415,506 (GRCm39) D440G probably benign Het
Rab11fip5 A G 6: 85,351,471 (GRCm39) S14P probably damaging Het
Rhpn2 T C 7: 35,079,031 (GRCm39) S383P probably damaging Het
Rnf220 A G 4: 117,129,576 (GRCm39) probably benign Het
Setbp1 A T 18: 78,900,589 (GRCm39) L1026* probably null Het
Slc1a4 A T 11: 20,258,408 (GRCm39) S264T probably damaging Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sptan1 T C 2: 29,886,055 (GRCm39) I739T probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stat5b A T 11: 100,695,840 (GRCm39) D47E possibly damaging Het
Taar7b A T 10: 23,875,961 (GRCm39) Y42F probably benign Het
Tfdp2 T A 9: 96,169,748 (GRCm39) I33K possibly damaging Het
Tm4sf5 A G 11: 70,401,448 (GRCm39) H149R probably benign Het
Tmco6 A G 18: 36,871,760 (GRCm39) M257V probably benign Het
Tuba8 G T 6: 121,202,916 (GRCm39) G410* probably null Het
Ubd T A 17: 37,504,853 (GRCm39) V4D probably benign Het
Ugt2b34 C T 5: 87,054,284 (GRCm39) V166I probably benign Het
Vmn2r70 C T 7: 85,214,553 (GRCm39) V200I possibly damaging Het
Wdcp A T 12: 4,901,206 (GRCm39) N354I probably damaging Het
Wipi2 A T 5: 142,652,618 (GRCm39) Y410F possibly damaging Het
Zc3hav1 G T 6: 38,309,127 (GRCm39) P565Q probably damaging Het
Zfp398 T C 6: 47,842,737 (GRCm39) V131A probably benign Het
Zkscan3 T C 13: 21,579,063 (GRCm39) D144G possibly damaging Het
Zpbp T A 11: 11,412,358 (GRCm39) probably benign 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
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
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
Posted On 2015-04-16