Incidental Mutation 'IGL01784:Rnf43'
ID 154245
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 # IGL01784
Quality Score
Status
Chromosome 11
Chromosomal Location 87553913-87626365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87622632 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 537 (S537T)
Ref Sequence ENSEMBL: ENSMUSP00000112748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040089] [ENSMUST00000092800] [ENSMUST00000121782] [ENSMUST00000165679]
AlphaFold Q5NCP0
Predicted Effect probably benign
Transcript: ENSMUST00000040089
AA Change: S451T

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: S451T

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 benign
Transcript: ENSMUST00000092800
AA Change: S578T

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: S578T

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 possibly damaging
Transcript: ENSMUST00000121782
AA Change: S537T

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: S537T

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 benign
Transcript: ENSMUST00000165679
AA Change: S578T

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: S578T

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,445 (GRCm39) P309L possibly damaging Het
Abca4 A T 3: 121,932,154 (GRCm39) K269N probably benign Het
Abcb5 T C 12: 118,854,399 (GRCm39) T839A probably benign Het
Adcy7 A G 8: 89,040,751 (GRCm39) D30G probably damaging Het
Aldh3b1 A G 19: 3,971,217 (GRCm39) I149T probably benign Het
Ap3b1 A G 13: 94,630,247 (GRCm39) D199G probably damaging Het
Cplx3 T C 9: 57,527,847 (GRCm39) Y36C probably damaging Het
Ddo A G 10: 40,507,784 (GRCm39) probably benign Het
Ensa T A 3: 95,535,844 (GRCm39) probably benign Het
Etnppl A G 3: 130,425,427 (GRCm39) I405V possibly damaging Het
Fam171b T A 2: 83,710,031 (GRCm39) L568M possibly damaging Het
Fmn2 A G 1: 174,329,994 (GRCm39) D128G unknown Het
Fra10ac1 T A 19: 38,208,125 (GRCm39) H43L probably benign Het
Gm7589 T C 9: 59,053,310 (GRCm39) noncoding transcript Het
Gsx1 A G 5: 147,126,939 (GRCm39) D254G probably benign Het
Hoxb6 A G 11: 96,191,639 (GRCm39) E187G probably damaging Het
Kmt2c A T 5: 25,518,524 (GRCm39) I2385N probably damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Mccc1 T G 3: 36,030,897 (GRCm39) N390H probably damaging Het
Mphosph9 T C 5: 124,403,373 (GRCm39) probably benign Het
Nfic T C 10: 81,241,982 (GRCm39) D364G possibly damaging Het
Niban1 T A 1: 151,525,116 (GRCm39) Y174N probably damaging Het
Npy A G 6: 49,806,314 (GRCm39) probably benign Het
Or6c8 C T 10: 128,915,224 (GRCm39) V203M probably benign Het
Osbpl3 A G 6: 50,321,902 (GRCm39) S75P probably damaging Het
Plekhg4 G T 8: 106,105,589 (GRCm39) A685S probably damaging Het
Pramel51 A G 12: 88,143,085 (GRCm39) Y178H probably benign Het
Prss53 T C 7: 127,485,724 (GRCm39) T539A probably benign Het
Rpgrip1l G A 8: 91,997,089 (GRCm39) T597I possibly damaging Het
Rtn4 C A 11: 29,657,291 (GRCm39) Q482K probably damaging Het
Sema3g T C 14: 30,944,924 (GRCm39) I349T probably damaging Het
Sh3gl1 A C 17: 56,326,325 (GRCm39) S108A possibly damaging Het
Tmc7 A T 7: 118,146,538 (GRCm39) probably null Het
Tmem131 G A 1: 36,854,564 (GRCm39) T131I probably damaging Het
Vac14 T C 8: 111,397,800 (GRCm39) L505P probably benign Het
Wasf2 A G 4: 132,919,439 (GRCm39) Q231R unknown Het
Wnt7a A G 6: 91,342,839 (GRCm39) C348R probably damaging Het
Zkscan6 T A 11: 65,705,547 (GRCm39) L86Q 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
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
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 2014-02-04