Incidental Mutation 'IGL01469:Rnf112'
ID 88201
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 # IGL01469
Quality Score
Status
Chromosome 11
Chromosomal Location 61339268-61344957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61342167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 308 (T308S)
Ref Sequence ENSEMBL: ENSMUSP00000059903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054927] [ENSMUST00000060255] [ENSMUST00000102661]
AlphaFold Q96DY5
Predicted Effect possibly damaging
Transcript: ENSMUST00000054927
AA Change: T308S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: T308S

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 possibly damaging
Transcript: ENSMUST00000060255
AA Change: T308S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: T308S

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 possibly damaging
Transcript: ENSMUST00000102661
AA Change: T285S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: T285S

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm1 A G 4: 144,255,192 (GRCm39) Q204R possibly damaging Het
Actn2 C T 13: 12,325,796 (GRCm39) E60K possibly damaging Het
Alpk1 T C 3: 127,471,401 (GRCm39) probably null Het
Ccdc107 A G 4: 43,495,751 (GRCm39) N218S probably benign Het
Cdh23 A T 10: 60,433,504 (GRCm39) M60K probably benign Het
Cenpe A G 3: 134,934,567 (GRCm39) Q378R probably damaging Het
Dnaaf6rt A T 1: 31,262,510 (GRCm39) D164V probably damaging Het
Dnah8 T A 17: 30,902,688 (GRCm39) probably benign Het
Eif2b4 T C 5: 31,345,111 (GRCm39) D190G probably benign Het
Fmo5 A G 3: 97,558,884 (GRCm39) N448S probably benign Het
Gal3st2c A G 1: 93,937,039 (GRCm39) N328S probably benign Het
Gbf1 A T 19: 46,267,803 (GRCm39) E1271V probably damaging Het
Ifitm6 A T 7: 140,596,725 (GRCm39) V16D probably damaging Het
Ighv2-4 A G 12: 113,616,966 (GRCm39) probably null Het
Kng2 T A 16: 22,818,577 (GRCm39) K305I probably damaging Het
Lrp1 C T 10: 127,420,283 (GRCm39) R900Q probably damaging Het
Maml1 A G 11: 50,157,353 (GRCm39) M274T probably damaging Het
Med23 A G 10: 24,758,495 (GRCm39) E278G probably damaging Het
Myo1h A G 5: 114,499,330 (GRCm39) T164A probably damaging Het
Ncoa2 A T 1: 13,257,093 (GRCm39) S135R probably benign Het
Nrbf2 A G 10: 67,105,919 (GRCm39) L41P probably damaging Het
Or10a48 A G 7: 108,424,534 (GRCm39) V224A probably benign Het
Or1j13 T C 2: 36,369,836 (GRCm39) Y102C probably benign Het
Or1o11 T A 17: 37,756,426 (GRCm39) S5T probably benign Het
Or52e5 T A 7: 104,719,595 (GRCm39) M307K probably benign Het
Or6c6 A G 10: 129,186,449 (GRCm39) M6V probably benign Het
Otoa T C 7: 120,754,496 (GRCm39) probably null Het
Plxnb1 T C 9: 108,934,483 (GRCm39) probably benign Het
Ppp1r42 A T 1: 10,073,458 (GRCm39) probably null Het
Rad54l2 T A 9: 106,599,957 (GRCm39) K100M probably damaging Het
Scaper T C 9: 55,767,051 (GRCm39) D466G probably damaging Het
Sgsm2 T A 11: 74,744,697 (GRCm39) I796L possibly damaging Het
Shank3 T C 15: 89,405,477 (GRCm39) L476P probably damaging Het
Shkbp1 T C 7: 27,055,366 (GRCm39) T6A probably benign Het
Slc14a2 A T 18: 78,198,781 (GRCm39) I783N probably damaging Het
Stat1 A G 1: 52,186,529 (GRCm39) D447G possibly damaging Het
Tekt3 T G 11: 62,964,294 (GRCm39) I208S probably damaging Het
Tenm3 A T 8: 48,689,458 (GRCm39) V2043E probably damaging Het
Tgm3 T C 2: 129,866,414 (GRCm39) Y111H probably damaging Het
Tph2 T A 10: 114,915,664 (GRCm39) R459* probably null Het
Vmn2r109 T C 17: 20,761,671 (GRCm39) Y562C 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
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
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 2013-11-18