Incidental Mutation 'IGL01339:Rnf112'
ID74755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf112
Ensembl Gene ENSMUSG00000010086
Gene Namering finger protein 112
SynonymsZfp179, bfp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01339
Quality Score
Status
Chromosome11
Chromosomal Location61448442-61454131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61450477 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 402 (D402E)
Ref Sequence ENSEMBL: ENSMUSP00000056464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054927] [ENSMUST00000060255] [ENSMUST00000102661]
Predicted Effect probably benign
Transcript: ENSMUST00000054927
AA Change: D402E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: D402E

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
AA Change: D427E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: D427E

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
AA Change: D379E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: D379E

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,289,512 T2565A probably damaging Het
C8a A C 4: 104,827,985 F354V probably benign Het
Cadps C T 14: 12,486,543 V876M possibly damaging Het
Chmp7 A T 14: 69,719,406 I351N probably damaging Het
Clec7a A T 6: 129,465,486 W193R probably damaging Het
Clint1 T C 11: 45,909,019 V535A probably benign Het
Clu A G 14: 65,975,588 E141G probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cntn2 A T 1: 132,518,905 probably null Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cyp2d10 C T 15: 82,403,841 A195T probably benign Het
Dnah10 G T 5: 124,777,212 K1901N probably damaging Het
Dopey1 G A 9: 86,551,677 D2329N possibly damaging Het
Eipr1 A G 12: 28,864,771 E308G probably damaging Het
Exoc4 T C 6: 33,305,400 probably benign Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbn2 T C 18: 58,113,370 T487A possibly damaging Het
Fbxo40 T C 16: 36,970,454 E98G probably damaging Het
Folh1 G A 7: 86,726,098 T527I probably damaging Het
Gls C T 1: 52,188,708 D217N probably damaging Het
Gm6994 A G 14: 77,481,178 probably benign Het
Gpr149 A T 3: 62,604,297 W94R probably damaging Het
Gpr158 A G 2: 21,369,031 D259G possibly damaging Het
Hcn2 T C 10: 79,729,068 L438P probably damaging Het
Hgd A C 16: 37,631,730 T374P possibly damaging Het
Ints3 A G 3: 90,415,156 probably null Het
Kctd5 A T 17: 24,057,775 V172E probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lrrc37a A G 11: 103,497,937 S2221P unknown Het
Ltk T A 2: 119,752,974 D310V probably damaging Het
Luzp1 T A 4: 136,542,776 M770K probably damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Mzb1 T A 18: 35,648,346 H71L probably benign Het
Necap2 G A 4: 141,074,965 T63I probably benign Het
Nefl A G 14: 68,086,482 probably benign Het
Odam G A 5: 87,885,896 probably null Het
Pcdh18 A G 3: 49,755,798 I356T probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Pde2a T C 7: 101,507,159 S593P probably benign Het
Rapgef3 A T 15: 97,758,059 L359M probably damaging Het
Rb1 T C 14: 73,264,371 probably null Het
Rbm44 A G 1: 91,168,964 I976V probably benign Het
Rdh13 A T 7: 4,427,624 S278R probably damaging Het
Rgma A G 7: 73,417,483 E256G probably damaging Het
Rnps1 T A 17: 24,422,299 D224E probably damaging Het
Scn10a C T 9: 119,622,766 V1364M probably damaging Het
Scn1a C T 2: 66,325,960 R535H probably benign Het
Scn8a A T 15: 101,032,201 D1431V probably benign Het
Setdb1 A T 3: 95,338,580 L677* probably null Het
Slc17a8 T A 10: 89,591,244 I148F probably damaging Het
Slx4ip T A 2: 137,044,055 C98* probably null Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Tcof1 T C 18: 60,818,095 probably benign Het
Tdrd3 G A 14: 87,480,794 V210I possibly damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tmod4 G A 3: 95,128,297 R252H probably benign Het
Tti1 G T 2: 158,009,130 P63Q possibly damaging Het
Tuft1 A T 3: 94,628,287 D109E probably damaging Het
Wdr63 T C 3: 146,042,836 Y841C probably benign Het
Zcchc2 T C 1: 106,029,775 S659P probably damaging Het
Other mutations in Rnf112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Rnf112 APN 11 61452784 missense probably damaging 1.00
IGL01469:Rnf112 APN 11 61451341 missense possibly damaging 0.94
IGL02102:Rnf112 APN 11 61452015 missense probably benign 0.36
IGL02216:Rnf112 APN 11 61449978 missense probably damaging 1.00
IGL02431:Rnf112 APN 11 61450379 missense probably benign 0.17
IGL02638:Rnf112 APN 11 61449405 utr 3 prime probably benign
IGL02657:Rnf112 APN 11 61450252 splice site probably null
R0041:Rnf112 UTSW 11 61452355 missense probably damaging 1.00
R1514:Rnf112 UTSW 11 61450410 missense probably benign 0.01
R1991:Rnf112 UTSW 11 61452426 missense probably damaging 1.00
R2119:Rnf112 UTSW 11 61451028 missense possibly damaging 0.92
R2216:Rnf112 UTSW 11 61452279 missense probably damaging 1.00
R2880:Rnf112 UTSW 11 61450467 missense possibly damaging 0.89
R3775:Rnf112 UTSW 11 61450185 splice site probably benign
R3904:Rnf112 UTSW 11 61450385 missense probably damaging 1.00
R4646:Rnf112 UTSW 11 61452110 missense probably damaging 0.99
R4710:Rnf112 UTSW 11 61449831 missense probably damaging 1.00
R4860:Rnf112 UTSW 11 61452744 missense possibly damaging 0.67
R4860:Rnf112 UTSW 11 61452744 missense possibly damaging 0.67
R4894:Rnf112 UTSW 11 61452662 missense probably damaging 1.00
R4930:Rnf112 UTSW 11 61453465 missense probably benign
R4967:Rnf112 UTSW 11 61452926 splice site probably benign
R4992:Rnf112 UTSW 11 61452711 missense possibly damaging 0.72
R5547:Rnf112 UTSW 11 61451028 missense possibly damaging 0.92
R5874:Rnf112 UTSW 11 61449447 missense probably damaging 0.98
R5997:Rnf112 UTSW 11 61451022 missense possibly damaging 0.87
R6023:Rnf112 UTSW 11 61449729 missense probably damaging 1.00
R6906:Rnf112 UTSW 11 61450389 missense probably null 0.38
R7194:Rnf112 UTSW 11 61450857 missense probably damaging 1.00
R7439:Rnf112 UTSW 11 61451028 missense possibly damaging 0.92
Posted On2013-10-07