Incidental Mutation 'IGL02638:Rnf112'
ID 301634
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 # IGL02638
Quality Score
Status
Chromosome 11
Chromosomal Location 61339268-61344957 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 61340231 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 benign
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 benign
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 benign
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 T A 2: 93,838,458 (GRCm39) T38S probably benign Het
Btbd8 T C 5: 107,656,422 (GRCm39) V895A possibly damaging Het
Cdkn2c A G 4: 109,522,209 (GRCm39) probably benign Het
Clca4b A C 3: 144,631,939 (GRCm39) C189G probably damaging Het
Clec4f T A 6: 83,629,682 (GRCm39) N292I possibly damaging Het
Dkk3 A C 7: 111,748,234 (GRCm39) S123R probably benign Het
Dock1 C T 7: 134,748,209 (GRCm39) A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 (GRCm39) Q403* probably null Het
F5 G A 1: 164,012,177 (GRCm39) probably null Het
Fam98c T A 7: 28,852,187 (GRCm39) D326V probably damaging Het
Firrm G A 1: 163,786,868 (GRCm39) Q734* probably null Het
Frem2 A C 3: 53,458,767 (GRCm39) V2034G possibly damaging Het
Galnt2 G A 8: 124,958,318 (GRCm39) G18D probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Hif3a A C 7: 16,778,293 (GRCm39) probably benign Het
Ibtk C T 9: 85,601,946 (GRCm39) G755D probably damaging Het
Laptm4b A G 15: 34,277,630 (GRCm39) N187S probably benign Het
Lrba A G 3: 86,232,380 (GRCm39) T776A probably damaging Het
Matcap2 A T 9: 22,341,775 (GRCm39) K149* probably null Het
Mfhas1 T A 8: 36,058,104 (GRCm39) W860R possibly damaging Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Nup42 A G 5: 24,380,505 (GRCm39) T167A probably benign Het
Or10j2 A G 1: 173,097,898 (GRCm39) D52G probably benign Het
Or2z2 C A 11: 58,345,873 (GRCm39) A301S probably damaging Het
Or4k45 T C 2: 111,395,249 (GRCm39) D180G probably damaging Het
Or5w10 T C 2: 87,375,093 (GRCm39) Y265C probably damaging Het
Or8j3c T C 2: 86,254,021 (GRCm39) probably null Het
Pgap2 T C 7: 101,886,629 (GRCm39) L217P probably damaging Het
Pik3c2b T G 1: 133,005,056 (GRCm39) probably benign Het
Ppfia3 T A 7: 45,006,092 (GRCm39) D149V probably damaging Het
Prkcb C T 7: 122,200,063 (GRCm39) probably benign Het
Prl A G 13: 27,245,562 (GRCm39) D97G probably benign Het
Psma5-ps T C 10: 85,149,698 (GRCm39) noncoding transcript Het
Slc17a8 C A 10: 89,412,465 (GRCm39) G323* probably null Het
Snx19 T C 9: 30,343,660 (GRCm39) F607L possibly damaging Het
Suco A G 1: 161,655,256 (GRCm39) S1079P probably damaging Het
Taf5 T C 19: 47,056,649 (GRCm39) L149P probably benign Het
Taf6l T C 19: 8,752,630 (GRCm39) M379V probably benign Het
Tcf25 T C 8: 124,126,031 (GRCm39) F558L probably damaging Het
Tlcd1 T C 11: 78,070,444 (GRCm39) V102A probably benign Het
Tmc5 G T 7: 118,226,456 (GRCm39) A274S probably benign Het
Toporsl C T 4: 52,611,624 (GRCm39) H506Y probably benign Het
Ubtd1 T C 19: 42,022,109 (GRCm39) L127P possibly damaging Het
Usp24 A C 4: 106,295,967 (GRCm39) probably benign Het
Usp24 C A 4: 106,295,969 (GRCm39) probably benign Het
Usp43 T G 11: 67,746,581 (GRCm39) D1042A probably benign Het
Whrn T C 4: 63,337,709 (GRCm39) T48A possibly damaging Het
Wnt2b A G 3: 104,862,032 (GRCm39) I102T probably benign Het
Zfp763 T C 17: 33,238,908 (GRCm39) D79G probably benign Het
Zmat4 A G 8: 24,287,389 (GRCm39) Y45C 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
IGL02657:Rnf112 APN 11 61,341,078 (GRCm39) splice site probably null
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