Incidental Mutation 'IGL01732:Rnf103'
ID105532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf103
Ensembl Gene ENSMUSG00000052656
Gene Namering finger protein 103
SynonymsZfp103, kf-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #IGL01732
Quality Score
Status
Chromosome6
Chromosomal Location71493894-71510881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 71510382 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 666 (K666E)
Ref Sequence ENSEMBL: ENSMUSP00000109817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064637] [ENSMUST00000114178] [ENSMUST00000114179]
Predicted Effect probably damaging
Transcript: ENSMUST00000064637
AA Change: K666E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000066324
Gene: ENSMUSG00000052656
AA Change: K666E

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: K666E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000109817
Gene: ENSMUSG00000052656
AA Change: K666E

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh4a1 G T 4: 139,642,160 E341* probably null Het
Alpk3 A G 7: 81,057,642 R5G unknown Het
Arhgef10l C T 4: 140,580,415 V113M probably damaging Het
Brca2 T A 5: 150,542,387 I1872K probably benign Het
Cdk17 C A 10: 93,218,045 P134T probably benign Het
Cerk A G 15: 86,146,316 S35P possibly damaging Het
Cfap126 T C 1: 171,126,736 V174A possibly damaging Het
Cfhr1 T C 1: 139,550,868 T255A probably benign Het
Clcn1 A G 6: 42,310,672 probably benign Het
Copz1 A G 15: 103,297,891 E151G probably benign Het
Cubn G A 2: 13,489,936 Q101* probably null Het
Eri1 T C 8: 35,491,243 E12G possibly damaging Het
Fam71f2 A T 6: 29,285,980 H146L probably damaging Het
Fut9 A G 4: 25,619,867 F316L possibly damaging Het
Gm973 A G 1: 59,630,237 I816V probably benign Het
Itln1 A G 1: 171,534,780 M11T probably benign Het
Klc2 C T 19: 5,109,797 R458Q probably damaging Het
Lrrc8b A T 5: 105,485,960 E766V probably damaging Het
Mmadhc A T 2: 50,281,185 I205N probably damaging Het
Myo10 A G 15: 25,732,063 I342V probably benign Het
Ncapg T A 5: 45,693,853 V796D probably damaging Het
Olfm3 A C 3: 115,097,000 D134A possibly damaging Het
Olfr402 T C 11: 74,155,453 C100R probably damaging Het
Olfr574 T A 7: 102,949,239 I248N probably damaging Het
Olfr661 T C 7: 104,688,336 M107T possibly damaging Het
Phldb3 A G 7: 24,627,326 E593G probably damaging Het
Plcg1 T A 2: 160,747,779 D74E probably damaging Het
Plekhm3 T C 1: 64,922,248 D283G probably benign Het
Pnpla6 C A 8: 3,522,616 T279N probably damaging Het
Prkcq G A 2: 11,260,833 probably benign Het
Rbm11 G A 16: 75,600,622 A147T probably benign Het
Selenos A G 7: 66,080,389 Y45C probably damaging Het
Sept11 A G 5: 93,161,226 Y255C probably damaging Het
Serpinb3c T C 1: 107,271,972 H273R probably benign Het
Slc35f2 A G 9: 53,806,625 D141G probably damaging Het
Sntg2 A T 12: 30,312,649 Y33N probably damaging Het
Snx19 C A 9: 30,462,353 T904K probably damaging Het
Tenm4 A G 7: 96,895,509 Y2244C probably damaging Het
Tescl A G 7: 24,333,447 V151A probably damaging Het
Tnrc18 C T 5: 142,772,061 V902M unknown Het
Trmt13 A G 3: 116,581,464 L465S probably damaging Het
Ube2j2 T G 4: 155,957,331 V249G probably damaging Het
Zan T C 5: 137,393,011 K4737R unknown Het
Zc3h6 T C 2: 129,011,875 I430T probably damaging Het
Zfp750 G A 11: 121,512,993 S352L probably benign Het
Zfp819 A G 7: 43,616,422 K34E probably benign Het
Other mutations in Rnf103
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00510:Rnf103 APN 6 71509749 missense probably damaging 0.99
IGL00589:Rnf103 APN 6 71509083 missense probably benign 0.00
IGL01601:Rnf103 APN 6 71509183 missense probably damaging 1.00
IGL02130:Rnf103 APN 6 71509564 missense probably damaging 1.00
IGL02227:Rnf103 APN 6 71510188 missense probably benign 0.01
IGL02386:Rnf103 APN 6 71509218 missense probably benign
IGL02532:Rnf103 APN 6 71509825 missense probably benign 0.19
IGL02532:Rnf103 APN 6 71509652 missense probably damaging 0.96
IGL02747:Rnf103 APN 6 71509177 missense probably damaging 0.97
IGL02839:Rnf103 APN 6 71509705 missense probably benign 0.41
IGL03247:Rnf103 APN 6 71510305 missense possibly damaging 0.78
R0140:Rnf103 UTSW 6 71509331 missense possibly damaging 0.76
R0308:Rnf103 UTSW 6 71509702 missense probably damaging 1.00
R0764:Rnf103 UTSW 6 71509582 missense probably damaging 0.96
R1428:Rnf103 UTSW 6 71508999 missense probably damaging 1.00
R2362:Rnf103 UTSW 6 71510017 missense probably benign 0.08
R3847:Rnf103 UTSW 6 71508875 missense probably damaging 1.00
R3849:Rnf103 UTSW 6 71508875 missense probably damaging 1.00
R3919:Rnf103 UTSW 6 71510347 missense probably benign 0.08
R4914:Rnf103 UTSW 6 71510264 missense possibly damaging 0.71
R5620:Rnf103 UTSW 6 71510008 missense probably benign 0.04
R5634:Rnf103 UTSW 6 71509617 missense probably benign 0.01
R5682:Rnf103 UTSW 6 71508724 intron probably benign
R5791:Rnf103 UTSW 6 71508925 missense probably damaging 0.99
R5994:Rnf103 UTSW 6 71496910 missense probably damaging 0.99
R6347:Rnf103 UTSW 6 71505824 missense possibly damaging 0.89
R6551:Rnf103 UTSW 6 71510365 missense probably damaging 1.00
R7739:Rnf103 UTSW 6 71509479 missense possibly damaging 0.77
R7819:Rnf103 UTSW 6 71508930 missense probably benign 0.00
R7903:Rnf103 UTSW 6 71509154 missense probably damaging 1.00
R8750:Rnf103 UTSW 6 71509618 missense probably benign 0.11
R8784:Rnf103 UTSW 6 71509998 missense probably benign 0.03
Posted On2014-01-21