Incidental Mutation 'IGL02532:Rnf103'
ID 297346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf103
Ensembl Gene ENSMUSG00000052656
Gene Name ring finger protein 103
Synonyms Zfp103, kf-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # IGL02532
Quality Score
Status
Chromosome 6
Chromosomal Location 71470878-71487865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 71486636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 422 (S422R)
Ref Sequence ENSEMBL: ENSMUSP00000109817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064637] [ENSMUST00000114178] [ENSMUST00000114179]
AlphaFold Q9R1W3
Predicted Effect probably damaging
Transcript: ENSMUST00000064637
AA Change: S422R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: S422R

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 326 348 N/A INTRINSIC
transmembrane domain 353 375 N/A INTRINSIC
transmembrane domain 412 431 N/A INTRINSIC
low complexity region 523 531 N/A INTRINSIC
RING 619 660 5.07e-6 SMART
low complexity region 665 676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114178
SMART Domains Protein: ENSMUSP00000109816
Gene: ENSMUSG00000052656

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
low complexity region 162 173 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114179
AA Change: S422R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: S422R

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 326 348 N/A INTRINSIC
transmembrane domain 353 375 N/A INTRINSIC
transmembrane domain 412 431 N/A INTRINSIC
low complexity region 523 531 N/A INTRINSIC
RING 619 660 5.07e-6 SMART
low complexity region 665 676 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150069
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the RING finger family of E3 ubiquitin-protein ligases. These proteins catalyze the transfer of the ubiquitin protein from a ubiquitin E2 enzyme to a protein substrate. Homozygous knockout mice for this gene exhibit enhanced anxiety-like behavior. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display significantly increased anxiety-like behavior under stressful conditions as well as increased prepulse inhibition and a reduced startle amplitude with no detectable changes in exploratory locomotion or behavioral despair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik T C 7: 28,947,645 (GRCm39) K15E possibly damaging Het
Abca2 A G 2: 25,325,148 (GRCm39) T381A probably benign Het
Adcy1 T A 11: 7,094,737 (GRCm39) N554K probably benign Het
Adcy5 A G 16: 35,092,453 (GRCm39) I605V possibly damaging Het
Arhgap11a G T 2: 113,664,021 (GRCm39) S754* probably null Het
Arhgef28 T A 13: 98,166,391 (GRCm39) D319V probably damaging Het
Brca2 A G 5: 150,474,327 (GRCm39) D2410G probably damaging Het
Carmil2 T A 8: 106,419,063 (GRCm39) probably null Het
Catip A G 1: 74,403,775 (GRCm39) N189S probably damaging Het
Cd177 T C 7: 24,444,674 (GRCm39) K636E probably benign Het
Cep290 A G 10: 100,380,927 (GRCm39) T145A probably benign Het
Cthrc1 T C 15: 38,940,560 (GRCm39) probably benign Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fas C A 19: 34,293,999 (GRCm39) T118N probably damaging Het
Fgd3 G A 13: 49,439,237 (GRCm39) A253V probably damaging Het
Fig4 A G 10: 41,161,277 (GRCm39) probably benign Het
Fubp3 T C 2: 31,490,571 (GRCm39) probably benign Het
Gria2 T A 3: 80,614,306 (GRCm39) E578V probably damaging Het
Gtpbp1 T A 15: 79,604,278 (GRCm39) V662E probably benign Het
Hbb-bt T C 7: 103,463,081 (GRCm39) probably benign Het
Ighv6-5 T A 12: 114,380,424 (GRCm39) D50V probably benign Het
Inpp5k T C 11: 75,524,010 (GRCm39) probably benign Het
Kalrn T C 16: 34,181,216 (GRCm39) N141D probably damaging Het
Kbtbd8 A G 6: 95,103,517 (GRCm39) T389A probably benign Het
Klhl6 C A 16: 19,775,832 (GRCm39) R242L possibly damaging Het
Kmt2b T C 7: 30,286,314 (GRCm39) probably benign Het
Krt13 A T 11: 100,010,195 (GRCm39) L262Q probably damaging Het
Lingo2 T C 4: 35,709,171 (GRCm39) K270E possibly damaging Het
Mroh7 A G 4: 106,577,788 (GRCm39) S297P probably benign Het
Ndufs1 G A 1: 63,209,298 (GRCm39) R22C probably damaging Het
Nlrp5 T A 7: 23,109,398 (GRCm39) S115T possibly damaging Het
Nup50l A C 6: 96,141,771 (GRCm39) S424R probably damaging Het
Pfpl A T 19: 12,406,209 (GRCm39) R153S probably damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Psme1 T A 14: 55,818,595 (GRCm39) Y223* probably null Het
R3hdm1 T C 1: 128,124,836 (GRCm39) probably null Het
Rps6ka2 T C 17: 7,523,365 (GRCm39) V213A probably damaging Het
Sort1 G T 3: 108,233,036 (GRCm39) K203N probably benign Het
Sugp1 A T 8: 70,512,469 (GRCm39) K239N possibly damaging Het
Sult2a8 C T 7: 14,150,183 (GRCm39) R176K probably benign Het
Usp34 T A 11: 23,320,291 (GRCm39) N888K probably damaging Het
Vmn1r4 A C 6: 56,934,135 (GRCm39) H213P possibly damaging Het
Wdr45b G T 11: 121,219,639 (GRCm39) T303K probably benign Het
Other mutations in Rnf103
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Rnf103 APN 6 71,486,733 (GRCm39) missense probably damaging 0.99
IGL00589:Rnf103 APN 6 71,486,067 (GRCm39) missense probably benign 0.00
IGL01601:Rnf103 APN 6 71,486,167 (GRCm39) missense probably damaging 1.00
IGL01732:Rnf103 APN 6 71,487,366 (GRCm39) missense probably damaging 0.97
IGL02130:Rnf103 APN 6 71,486,548 (GRCm39) missense probably damaging 1.00
IGL02227:Rnf103 APN 6 71,487,172 (GRCm39) missense probably benign 0.01
IGL02386:Rnf103 APN 6 71,486,202 (GRCm39) missense probably benign
IGL02532:Rnf103 APN 6 71,486,809 (GRCm39) missense probably benign 0.19
IGL02747:Rnf103 APN 6 71,486,161 (GRCm39) missense probably damaging 0.97
IGL02839:Rnf103 APN 6 71,486,689 (GRCm39) missense probably benign 0.41
IGL03247:Rnf103 APN 6 71,487,289 (GRCm39) missense possibly damaging 0.78
R0140:Rnf103 UTSW 6 71,486,315 (GRCm39) missense possibly damaging 0.76
R0308:Rnf103 UTSW 6 71,486,686 (GRCm39) missense probably damaging 1.00
R0764:Rnf103 UTSW 6 71,486,566 (GRCm39) missense probably damaging 0.96
R1428:Rnf103 UTSW 6 71,485,983 (GRCm39) missense probably damaging 1.00
R2362:Rnf103 UTSW 6 71,487,001 (GRCm39) missense probably benign 0.08
R3847:Rnf103 UTSW 6 71,485,859 (GRCm39) missense probably damaging 1.00
R3849:Rnf103 UTSW 6 71,485,859 (GRCm39) missense probably damaging 1.00
R3919:Rnf103 UTSW 6 71,487,331 (GRCm39) missense probably benign 0.08
R4914:Rnf103 UTSW 6 71,487,248 (GRCm39) missense possibly damaging 0.71
R5620:Rnf103 UTSW 6 71,486,992 (GRCm39) missense probably benign 0.04
R5634:Rnf103 UTSW 6 71,486,601 (GRCm39) missense probably benign 0.01
R5682:Rnf103 UTSW 6 71,485,708 (GRCm39) intron probably benign
R5791:Rnf103 UTSW 6 71,485,909 (GRCm39) missense probably damaging 0.99
R5994:Rnf103 UTSW 6 71,473,894 (GRCm39) missense probably damaging 0.99
R6347:Rnf103 UTSW 6 71,482,808 (GRCm39) missense possibly damaging 0.89
R6551:Rnf103 UTSW 6 71,487,349 (GRCm39) missense probably damaging 1.00
R7739:Rnf103 UTSW 6 71,486,463 (GRCm39) missense possibly damaging 0.77
R7819:Rnf103 UTSW 6 71,485,914 (GRCm39) missense probably benign 0.00
R7903:Rnf103 UTSW 6 71,486,138 (GRCm39) missense probably damaging 1.00
R8750:Rnf103 UTSW 6 71,486,602 (GRCm39) missense probably benign 0.11
R8784:Rnf103 UTSW 6 71,486,982 (GRCm39) missense probably benign 0.03
R8974:Rnf103 UTSW 6 71,486,092 (GRCm39) missense probably damaging 0.98
R9154:Rnf103 UTSW 6 71,487,099 (GRCm39) missense probably benign 0.06
R9505:Rnf103 UTSW 6 71,487,049 (GRCm39) missense probably benign
Posted On 2015-04-16