Incidental Mutation 'IGL02227:Rnf103'
ID 285588
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 # IGL02227
Quality Score
Status
Chromosome 6
Chromosomal Location 71470878-71487865 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71487172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 601 (D601G)
Ref Sequence ENSEMBL: ENSMUSP00000109817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064637] [ENSMUST00000114178] [ENSMUST00000114179]
AlphaFold Q9R1W3
Predicted Effect probably benign
Transcript: ENSMUST00000064637
AA Change: D601G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: D601G

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 benign
Transcript: ENSMUST00000114179
AA Change: D601G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: D601G

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,987,402 (GRCm39) E662G probably benign Het
Acss3 A G 10: 106,881,196 (GRCm39) S262P probably benign Het
Agap1 T C 1: 89,591,497 (GRCm39) V263A probably damaging Het
Ap3b2 A G 7: 81,123,152 (GRCm39) L454P probably damaging Het
Arrdc1 A T 2: 24,816,164 (GRCm39) F280I possibly damaging Het
Atp8b1 G T 18: 64,695,261 (GRCm39) H485N probably benign Het
Atrip A G 9: 108,890,732 (GRCm39) S91P possibly damaging Het
Bcorl1 T C X: 47,458,237 (GRCm39) V590A probably benign Het
Brf1 C A 12: 112,925,394 (GRCm39) R590S probably damaging Het
Ccdc18 A T 5: 108,296,788 (GRCm39) D197V possibly damaging Het
Ccr6 T C 17: 8,475,284 (GRCm39) V163A probably damaging Het
Cct6b T C 11: 82,632,217 (GRCm39) E257G probably damaging Het
Cdc42bpa A G 1: 179,921,989 (GRCm39) D564G possibly damaging Het
Cdh2 C T 18: 16,762,643 (GRCm39) V434I probably benign Het
Cfap410 A G 10: 77,818,784 (GRCm39) N152D possibly damaging Het
Cltc C T 11: 86,588,166 (GRCm39) V1610M possibly damaging Het
Cnot4 A G 6: 35,028,198 (GRCm39) F473L probably benign Het
Dock3 T C 9: 106,939,254 (GRCm39) K165E probably damaging Het
Duox2 A T 2: 122,115,634 (GRCm39) probably benign Het
Epha7 A G 4: 28,821,587 (GRCm39) S251G possibly damaging Het
Epn1 T A 7: 5,098,035 (GRCm39) V282E probably benign Het
Fat1 T C 8: 45,476,696 (GRCm39) L1914P probably damaging Het
Fbln2 T C 6: 91,233,349 (GRCm39) I611T possibly damaging Het
Fgd6 G T 10: 93,969,946 (GRCm39) M1198I probably damaging Het
Frmpd4 T A X: 166,275,931 (GRCm39) I379F probably damaging Het
Grk4 T A 5: 34,852,126 (GRCm39) D123E probably benign Het
Hc T G 2: 34,899,923 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,089 (GRCm39) Y781C probably damaging Het
Hfe T C 13: 23,890,926 (GRCm39) E71G probably benign Het
Hk1 A G 10: 62,116,919 (GRCm39) probably benign Het
Ifnk G A 4: 35,152,642 (GRCm39) probably benign Het
Kcnv1 C A 15: 44,977,670 (GRCm39) G123C probably damaging Het
Klhl38 A T 15: 58,186,633 (GRCm39) I32N possibly damaging Het
Lpl T C 8: 69,348,452 (GRCm39) V227A probably damaging Het
Lurap1l A T 4: 80,872,094 (GRCm39) S196C probably damaging Het
Mta1 T C 12: 113,084,528 (GRCm39) L91P possibly damaging Het
Nelfe C A 17: 35,073,330 (GRCm39) D288E probably benign Het
Or5p1 T A 7: 107,916,408 (GRCm39) C102* probably null Het
Otof T C 5: 30,528,128 (GRCm39) E1905G probably damaging Het
Pck2 T C 14: 55,781,323 (GRCm39) I148T probably benign Het
Plcl2 G T 17: 50,913,425 (GRCm39) V145F probably damaging Het
Plec A G 15: 76,056,474 (GRCm39) S4510P probably damaging Het
Plxna2 A G 1: 194,434,397 (GRCm39) E641G probably damaging Het
Poglut3 T C 9: 53,299,779 (GRCm39) L96S probably damaging Het
Ppp1r12a C T 10: 108,105,185 (GRCm39) T434M probably damaging Het
Ppp6r3 A T 19: 3,568,245 (GRCm39) N184K possibly damaging Het
Prkar1a G A 11: 109,551,001 (GRCm39) probably benign Het
Psmb1 A T 17: 15,710,546 (GRCm39) M1K probably null Het
Pwwp2a T C 11: 43,596,448 (GRCm39) S538P possibly damaging Het
Rbm25 C T 12: 83,719,527 (GRCm39) R516W probably damaging Het
Senp3 A G 11: 69,565,356 (GRCm39) V467A possibly damaging Het
Slc8a3 T G 12: 81,362,457 (GRCm39) T121P probably damaging Het
Slco1a8 A T 6: 141,939,401 (GRCm39) C197* probably null Het
Srrt G A 5: 137,294,536 (GRCm39) T790M probably damaging Het
Ssc5d T C 7: 4,936,453 (GRCm39) probably null Het
Tas2r129 G A 6: 132,928,357 (GRCm39) W98* probably null Het
Thoc5 A C 11: 4,876,217 (GRCm39) M609L probably benign Het
Tnip1 G A 11: 54,827,297 (GRCm39) T155M possibly damaging Het
Ttn A G 2: 76,618,672 (GRCm39) V14458A probably benign Het
Unc5cl A G 17: 48,766,809 (GRCm39) E61G probably benign Het
Usp32 T C 11: 84,877,307 (GRCm39) K151E probably damaging Het
Vmn2r121 T C X: 123,042,378 (GRCm39) M260V probably benign Het
Vwa7 G T 17: 35,239,060 (GRCm39) R345L probably damaging Het
Zfp366 G T 13: 99,370,696 (GRCm39) R472L possibly damaging Het
Zfp811 A T 17: 33,017,616 (GRCm39) Y141* probably null Het
Zpbp C T 11: 11,365,248 (GRCm39) E200K 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
IGL02386:Rnf103 APN 6 71,486,202 (GRCm39) missense probably benign
IGL02532:Rnf103 APN 6 71,486,636 (GRCm39) missense probably damaging 0.96
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