Incidental Mutation 'R6023:Rnf112'
ID 479050
Institutional Source Beutler Lab
Gene Symbol Rnf112
Ensembl Gene ENSMUSG00000010086
Gene Name ring finger protein 112
Synonyms Zfp179, neurolastin, bfp
MMRRC Submission 044195-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6023 (G1)
Quality Score 199.009
Status Validated
Chromosome 11
Chromosomal Location 61339268-61344957 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61340555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 525 (E525V)
Ref Sequence ENSEMBL: ENSMUSP00000099722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054927] [ENSMUST00000060255] [ENSMUST00000102661]
AlphaFold Q96DY5
Predicted Effect probably damaging
Transcript: ENSMUST00000054927
AA Change: E548V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: E548V

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 damaging
Transcript: ENSMUST00000060255
AA Change: E573V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: E573V

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 damaging
Transcript: ENSMUST00000102661
AA Change: E525V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: E525V

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
Meta Mutation Damage Score 0.1762 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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
Abcc8 T C 7: 45,757,843 (GRCm39) N1302S possibly damaging Het
Aff3 A T 1: 38,257,451 (GRCm39) S424T probably damaging Het
Ap2b1 C T 11: 83,226,224 (GRCm39) T207M probably damaging Het
Appl2 T C 10: 83,484,393 (GRCm39) Q18R probably null Het
Atrn T C 2: 130,862,900 (GRCm39) F1327L probably benign Het
Birc6 A T 17: 74,961,372 (GRCm39) I47F probably benign Het
Cdh23 A T 10: 60,301,321 (GRCm39) I451N probably damaging Het
Clec3a A G 8: 115,144,883 (GRCm39) T20A possibly damaging Het
Cpz T A 5: 35,669,922 (GRCm39) I252F probably benign Het
Ctc1 A G 11: 68,913,433 (GRCm39) D143G probably benign Het
Dhrs1 A T 14: 55,981,127 (GRCm39) Y94* probably null Het
Dnajc25 A G 4: 59,013,752 (GRCm39) K157E possibly damaging Het
Dpp6 T C 5: 27,928,545 (GRCm39) I789T probably damaging Het
Duox1 T G 2: 122,168,165 (GRCm39) F1097V probably benign Het
Ercc8 A G 13: 108,315,111 (GRCm39) T242A probably damaging Het
Evc2 T A 5: 37,505,960 (GRCm39) M93K probably benign Het
Glra1 A T 11: 55,424,679 (GRCm39) V94E probably damaging Het
Got1l1 A T 8: 27,689,932 (GRCm39) Y151* probably null Het
Hcrtr2 T A 9: 76,137,886 (GRCm39) I410F probably benign Het
Ighv1-72 T A 12: 115,721,532 (GRCm39) probably benign Het
Kel C A 6: 41,674,409 (GRCm39) E340D probably benign Het
Kif11 A G 19: 37,379,158 (GRCm39) E283G probably damaging Het
Klk4 T G 7: 43,533,482 (GRCm39) F114V probably benign Het
Krt7 T C 15: 101,310,278 (GRCm39) probably benign Het
Lrrc74a A G 12: 86,805,380 (GRCm39) I401V probably damaging Het
Luzp2 T C 7: 54,707,815 (GRCm39) S68P possibly damaging Het
Naip1 T C 13: 100,562,694 (GRCm39) T824A probably benign Het
Nav3 T C 10: 109,659,376 (GRCm39) Q747R possibly damaging Het
Or13p4 T A 4: 118,547,271 (GRCm39) Y126F probably damaging Het
Or1j11 A G 2: 36,311,523 (GRCm39) T38A probably damaging Het
Or4c107 A G 2: 88,789,059 (GRCm39) D83G possibly damaging Het
Or51f1 T C 7: 102,506,169 (GRCm39) I107V possibly damaging Het
Or52h2 T C 7: 103,838,880 (GRCm39) H178R probably damaging Het
Or5b120 A G 19: 13,480,067 (GRCm39) D120G probably damaging Het
Or7g22 A C 9: 19,049,021 (GRCm39) H244P probably damaging Het
Pcdhb11 T C 18: 37,555,978 (GRCm39) I436T possibly damaging Het
Pfdn2 T C 1: 171,184,319 (GRCm39) Y65H probably damaging Het
Polr2h T C 16: 20,537,776 (GRCm39) Y58H probably benign Het
Prrt4 G A 6: 29,176,452 (GRCm39) P291L probably benign Het
Psg29 G T 7: 16,944,437 (GRCm39) V316L possibly damaging Het
Sgms1 T C 19: 32,101,773 (GRCm39) K411R probably benign Het
Sh3tc1 T A 5: 35,864,295 (GRCm39) K631* probably null Het
Syne1 T C 10: 5,393,223 (GRCm39) M48V probably benign Het
Thrb C T 14: 18,011,209 (GRCm38) T226I probably damaging Het
Trim67 A T 8: 125,541,843 (GRCm39) D347V probably damaging Het
Try4 T C 6: 41,280,355 (GRCm39) S60P probably damaging Het
Ttn G T 2: 76,565,744 (GRCm39) L19876I probably damaging Het
Vars1 C T 17: 35,220,585 (GRCm39) R56C probably damaging Het
Vmn1r9 A G 6: 57,048,239 (GRCm39) I105V probably benign Het
Vps8 C A 16: 21,279,988 (GRCm39) T313K probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTCTCCATGCAGCCCACAG -3'
(R):5'- TTCGAGGAGTACGTGAGACAGC -3'

Sequencing Primer
(F):5'- GCCCCAGCTGCTACCATC -3'
(R):5'- TGAGACAGCAGGTGAGCCTC -3'
Posted On 2017-06-26