Incidental Mutation 'IGL02657:Rnf112'
ID 302410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf112
Ensembl Gene ENSMUSG00000010086
Gene Name ring finger protein 112
Synonyms Zfp179, neurolastin, bfp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02657
Quality Score
Status
Chromosome 11
Chromosomal Location 61339268-61344957 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 61341078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054927] [ENSMUST00000060255] [ENSMUST00000102661]
AlphaFold Q96DY5
Predicted Effect probably null
Transcript: ENSMUST00000054927
SMART Domains Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086

DomainStartEndE-ValueType
RING 80 120 3.78e-5 SMART
low complexity region 139 150 N/A INTRINSIC
Pfam:GBP 171 423 1.3e-21 PFAM
low complexity region 541 557 N/A INTRINSIC
transmembrane domain 570 592 N/A INTRINSIC
transmembrane domain 605 627 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000060255
SMART Domains Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086

DomainStartEndE-ValueType
RING 80 120 3.78e-5 SMART
low complexity region 139 150 N/A INTRINSIC
Pfam:GBP 171 448 2.8e-21 PFAM
low complexity region 566 582 N/A INTRINSIC
transmembrane domain 595 617 N/A INTRINSIC
transmembrane domain 630 652 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102661
SMART Domains Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086

DomainStartEndE-ValueType
RING 57 97 1.7e-7 SMART
low complexity region 116 127 N/A INTRINSIC
Pfam:GBP 148 400 2.7e-19 PFAM
low complexity region 518 534 N/A INTRINSIC
transmembrane domain 547 569 N/A INTRINSIC
transmembrane domain 582 604 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136966
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152137
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced dendritic spines, functional synapses and paired pulse facilitation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Dym C T 18: 75,215,527 (GRCm39) Q238* probably null Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Rnf112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Rnf112 APN 11 61,343,610 (GRCm39) missense probably damaging 1.00
IGL01339:Rnf112 APN 11 61,341,303 (GRCm39) missense probably benign 0.00
IGL01469:Rnf112 APN 11 61,342,167 (GRCm39) missense possibly damaging 0.94
IGL02102:Rnf112 APN 11 61,342,841 (GRCm39) missense probably benign 0.36
IGL02216:Rnf112 APN 11 61,340,804 (GRCm39) missense probably damaging 1.00
IGL02431:Rnf112 APN 11 61,341,205 (GRCm39) missense probably benign 0.17
IGL02638:Rnf112 APN 11 61,340,231 (GRCm39) utr 3 prime probably benign
R0041:Rnf112 UTSW 11 61,343,181 (GRCm39) missense probably damaging 1.00
R1514:Rnf112 UTSW 11 61,341,236 (GRCm39) missense probably benign 0.01
R1991:Rnf112 UTSW 11 61,343,252 (GRCm39) missense probably damaging 1.00
R2119:Rnf112 UTSW 11 61,341,854 (GRCm39) missense possibly damaging 0.92
R2216:Rnf112 UTSW 11 61,343,105 (GRCm39) missense probably damaging 1.00
R2880:Rnf112 UTSW 11 61,341,293 (GRCm39) missense possibly damaging 0.89
R3775:Rnf112 UTSW 11 61,341,011 (GRCm39) splice site probably benign
R3904:Rnf112 UTSW 11 61,341,211 (GRCm39) missense probably damaging 1.00
R4646:Rnf112 UTSW 11 61,342,936 (GRCm39) missense probably damaging 0.99
R4710:Rnf112 UTSW 11 61,340,657 (GRCm39) missense probably damaging 1.00
R4860:Rnf112 UTSW 11 61,343,570 (GRCm39) missense possibly damaging 0.67
R4860:Rnf112 UTSW 11 61,343,570 (GRCm39) missense possibly damaging 0.67
R4894:Rnf112 UTSW 11 61,343,488 (GRCm39) missense probably damaging 1.00
R4930:Rnf112 UTSW 11 61,344,291 (GRCm39) missense probably benign
R4967:Rnf112 UTSW 11 61,343,752 (GRCm39) splice site probably benign
R4992:Rnf112 UTSW 11 61,343,537 (GRCm39) missense possibly damaging 0.72
R5547:Rnf112 UTSW 11 61,341,854 (GRCm39) missense possibly damaging 0.92
R5874:Rnf112 UTSW 11 61,340,273 (GRCm39) missense probably damaging 0.98
R5997:Rnf112 UTSW 11 61,341,848 (GRCm39) missense possibly damaging 0.87
R6023:Rnf112 UTSW 11 61,340,555 (GRCm39) missense probably damaging 1.00
R6906:Rnf112 UTSW 11 61,341,215 (GRCm39) missense probably null 0.38
R7194:Rnf112 UTSW 11 61,341,683 (GRCm39) missense probably damaging 1.00
R7439:Rnf112 UTSW 11 61,341,854 (GRCm39) missense possibly damaging 0.92
R7984:Rnf112 UTSW 11 61,340,306 (GRCm39) missense possibly damaging 0.79
R8984:Rnf112 UTSW 11 61,343,277 (GRCm39) missense possibly damaging 0.90
R9756:Rnf112 UTSW 11 61,340,667 (GRCm39) missense probably damaging 1.00
Z1177:Rnf112 UTSW 11 61,340,505 (GRCm39) missense probably damaging 1.00
Z1186:Rnf112 UTSW 11 61,341,775 (GRCm39) missense unknown
Z1187:Rnf112 UTSW 11 61,341,775 (GRCm39) missense unknown
Z1188:Rnf112 UTSW 11 61,341,775 (GRCm39) missense unknown
Z1189:Rnf112 UTSW 11 61,341,775 (GRCm39) missense unknown
Z1190:Rnf112 UTSW 11 61,341,775 (GRCm39) missense unknown
Z1191:Rnf112 UTSW 11 61,341,775 (GRCm39) missense unknown
Z1192:Rnf112 UTSW 11 61,341,775 (GRCm39) missense unknown
Posted On 2015-04-16