Incidental Mutation 'R6452:Rnf43'
ID 519424
Institutional Source Beutler Lab
Gene Symbol Rnf43
Ensembl Gene ENSMUSG00000034177
Gene Name ring finger protein 43
Synonyms 4732452J19Rik
MMRRC Submission 044588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6452 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 87553913-87626365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87623079 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 727 (W727R)
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: W600R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044241
Gene: ENSMUSG00000034177
AA Change: W600R

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: W727R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090476
Gene: ENSMUSG00000034177
AA Change: W727R

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: W686R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112748
Gene: ENSMUSG00000034177
AA Change: W686R

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: W727R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130685
Gene: ENSMUSG00000034177
AA Change: W727R

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A G 13: 119,624,651 (GRCm39) probably benign Het
Alox12e A T 11: 70,210,831 (GRCm39) V296E probably damaging Het
Bmal2 G A 6: 146,724,705 (GRCm39) E400K probably benign Het
Ccdc171 A G 4: 83,782,527 (GRCm39) D1273G probably damaging Het
Cetn3 C T 13: 81,932,797 (GRCm39) R19* probably null Het
Chd6 G T 2: 160,807,418 (GRCm39) P1932H possibly damaging Het
Cimip1 C A 2: 173,369,700 (GRCm39) F71L probably benign Het
Cyp2d34 A T 15: 82,500,290 (GRCm39) I483N probably benign Het
Dglucy T C 12: 100,801,468 (GRCm39) V71A possibly damaging Het
Dhx35 A G 2: 158,673,607 (GRCm39) E346G probably damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fasn G T 11: 120,706,237 (GRCm39) Q1036K probably damaging Het
Fermt3 A T 19: 6,992,105 (GRCm39) F92I probably benign Het
Filip1l C A 16: 57,327,163 (GRCm39) D64E possibly damaging Het
Fnbp1l A G 3: 122,338,198 (GRCm39) F491S probably damaging Het
Fzd2 T G 11: 102,495,811 (GRCm39) V85G probably damaging Het
Gjd4 G A 18: 9,280,457 (GRCm39) T207M possibly damaging Het
Gm32742 T C 9: 51,057,490 (GRCm39) E1096G probably damaging Het
Itgb3 T A 11: 104,524,290 (GRCm39) L142* probably null Het
Kctd21 T A 7: 96,996,869 (GRCm39) I114N probably benign Het
Klra4 G T 6: 130,042,329 (GRCm39) probably null Het
Larp4b T C 13: 9,197,503 (GRCm39) V240A probably damaging Het
Lrriq4 T C 3: 30,709,882 (GRCm39) S409P probably damaging Het
Magel2 A G 7: 62,030,132 (GRCm39) E1012G unknown Het
Mmp24 A T 2: 155,657,673 (GRCm39) D521V possibly damaging Het
Mocos A G 18: 24,828,998 (GRCm39) I768V probably benign Het
Mprip A T 11: 59,643,609 (GRCm39) E553V probably damaging Het
Myh8 A T 11: 67,196,565 (GRCm39) I1762F possibly damaging Het
Myh8 A T 11: 67,183,275 (GRCm39) Y718F probably benign Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Neb A T 2: 52,069,495 (GRCm39) D5775E probably benign Het
Or10h5 T C 17: 33,434,919 (GRCm39) N133S probably benign Het
Or5p66 A G 7: 107,886,100 (GRCm39) S78P probably damaging Het
Pramel19 T C 4: 101,798,640 (GRCm39) Y204H probably benign Het
Prl8a2 T C 13: 27,536,780 (GRCm39) I134T probably benign Het
Qrich2 G A 11: 116,346,714 (GRCm39) T1370I probably benign Het
Rabgap1l A G 1: 160,281,331 (GRCm39) L630P probably damaging Het
Ranbp2 G T 10: 58,313,979 (GRCm39) L1566F probably benign Het
Rundc3b A T 5: 8,629,175 (GRCm39) probably null Het
Samm50 T G 15: 84,088,298 (GRCm39) probably benign Het
Sema4f G A 6: 82,894,643 (GRCm39) A476V probably benign Het
Slc4a4 A G 5: 89,376,839 (GRCm39) N1031S probably benign Het
Slc4a9 A G 18: 36,664,512 (GRCm39) Y390C probably damaging Het
Slco6d1 C A 1: 98,348,937 (GRCm39) Q3K probably benign Het
Smim1 T C 4: 154,108,071 (GRCm39) probably benign Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Sppl2c A T 11: 104,079,017 (GRCm39) T606S probably benign Het
Tex15 A G 8: 34,062,844 (GRCm39) D758G probably damaging Het
Tigd5 A T 15: 75,783,287 (GRCm39) R550* probably null Het
Tlcd3a G T 11: 76,097,972 (GRCm39) G60* probably null Het
Tnrc18 A C 5: 142,712,767 (GRCm39) L2594R probably damaging Het
Vezf1 A G 11: 87,972,496 (GRCm39) T468A possibly damaging Het
Vmn1r210 T A 13: 23,011,840 (GRCm39) I149F probably damaging Het
Vmn2r96 A C 17: 18,804,117 (GRCm39) T264P probably benign Het
Zfp217 C G 2: 169,961,214 (GRCm39) S371T probably benign Het
Zfp442 G A 2: 150,250,028 (GRCm39) H568Y probably damaging Het
Zfp53 A C 17: 21,729,875 (GRCm39) H636P probably damaging Het
Zscan4d C T 7: 10,895,999 (GRCm39) C457Y 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
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
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 PCR Primer
(F):5'- ATCCAGCCTCACTGTCAGAC -3'
(R):5'- GAGTCTCCTCTTCCCAGAACAC -3'

Sequencing Primer
(F):5'- TGGTCCCTCAGAACCCCTG -3'
(R):5'- CAGAACACCTGCTTCCCTG -3'
Posted On 2018-05-24