Incidental Mutation 'IGL00904:Rnf112'
ID28491
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 #IGL00904
Quality Score
Status
Chromosome11
Chromosomal Location61448442-61454131 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 61452784 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 98 (D98E)
Ref Sequence ENSEMBL: ENSMUSP00000059903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054927] [ENSMUST00000060255] [ENSMUST00000102661]
Predicted Effect probably damaging
Transcript: ENSMUST00000054927
AA Change: D98E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: D98E

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: D98E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: D98E

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: D75E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: D75E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 G T 6: 86,946,153 G236C probably damaging Het
Abi1 C T 2: 22,941,930 R404Q possibly damaging Het
Atp8b3 C T 10: 80,528,764 G532R probably damaging Het
Bysl C T 17: 47,601,871 M331I probably benign Het
Cndp1 A G 18: 84,611,665 S468P probably benign Het
Esd A G 14: 74,749,688 *266W probably null Het
F5 T C 1: 164,194,009 V1351A probably benign Het
Fchsd2 A G 7: 101,271,622 D454G probably benign Het
Fndc1 T A 17: 7,756,363 M1415L probably benign Het
Ghr T A 15: 3,328,120 Y222F probably benign Het
Gm6583 G A 5: 112,355,128 R237* probably null Het
Gtf3c2 C T 5: 31,172,858 S299N probably damaging Het
Ice1 C T 13: 70,602,289 D93N probably damaging Het
Ints7 T A 1: 191,596,164 probably null Het
Kif18a A G 2: 109,292,126 D182G probably damaging Het
Mcm9 A T 10: 53,622,921 H308Q possibly damaging Het
Mesp2 A G 7: 79,812,653 D319G probably benign Het
Mrpl55 T A 11: 59,205,673 S84T probably benign Het
Mybpc3 T C 2: 91,120,029 V123A probably benign Het
Myom1 T C 17: 71,099,949 probably benign Het
Nfia C T 4: 98,065,386 P325S probably damaging Het
Notch4 T C 17: 34,575,561 probably null Het
Npepps A C 11: 97,258,306 V130G probably damaging Het
Olfr1356 A T 10: 78,847,763 S51T probably damaging Het
Pja2 G T 17: 64,283,531 T669K probably damaging Het
Rsl1d1 G A 16: 11,199,694 T136I probably damaging Het
Samsn1 A T 16: 75,909,120 probably benign Het
Slc6a9 T C 4: 117,864,617 L280P probably damaging Het
Svep1 T C 4: 58,097,398 N1382D probably benign Het
Vmn2r100 T G 17: 19,526,000 C474G probably damaging Het
Vmn2r74 C T 7: 85,957,580 R186H probably benign Het
Wdr7 T C 18: 63,796,231 I1046T probably benign Het
Other mutations in Rnf112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01339:Rnf112 APN 11 61450477 missense probably benign 0.00
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
R7984:Rnf112 UTSW 11 61449480 missense possibly damaging 0.79
Z1177:Rnf112 UTSW 11 61449679 missense probably damaging 1.00
Posted On2013-04-17