Incidental Mutation 'R4860:Rnf112'
ID 372436
Institutional Source Beutler Lab
Gene Symbol Rnf112
Ensembl Gene ENSMUSG00000010086
Gene Name ring finger protein 112
Synonyms Zfp179, bfp
MMRRC Submission 042471-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4860 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 61448442-61454131 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61452744 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 112 (C112S)
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: C112S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000056464
Gene: ENSMUSG00000010086
AA Change: C112S

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: C112S

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000059903
Gene: ENSMUSG00000010086
AA Change: C112S

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: C89S

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099722
Gene: ENSMUSG00000010086
AA Change: C89S

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 0.0704 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.3%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik T C 8: 72,455,423 (GRCm38) S466P possibly damaging Het
Ablim1 T C 19: 57,079,866 (GRCm38) T267A probably damaging Het
Acap2 A T 16: 31,103,499 (GRCm38) L724Q possibly damaging Het
Acsbg3 A G 17: 56,888,655 (GRCm38) N684S probably benign Het
Adcy4 T C 14: 55,781,927 (GRCm38) T89A possibly damaging Het
Agrp T C 8: 105,567,368 (GRCm38) E41G probably benign Het
Ajm1 T C 2: 25,578,753 (GRCm38) Y382C probably damaging Het
Akr1d1 G A 6: 37,564,491 (GRCm38) V308M probably damaging Het
Ap1m2 C T 9: 21,309,674 (GRCm38) R54Q probably benign Het
Arhgap45 T A 10: 80,027,066 (GRCm38) V692E probably damaging Het
Arid5b G T 10: 68,243,095 (GRCm38) N137K probably damaging Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
BC048679 T C 7: 81,495,720 (GRCm38) N27D probably benign Het
Ccdc78 A G 17: 25,788,700 (GRCm38) N237S probably benign Het
Cd46 G A 1: 195,062,396 (GRCm38) L345F possibly damaging Het
Cngb3 A T 4: 19,425,569 (GRCm38) N459I possibly damaging Het
Ctnnd2 A G 15: 30,881,167 (GRCm38) E731G probably damaging Het
Ctsh A G 9: 90,054,548 (GRCm38) E26G probably benign Het
Cul1 T A 6: 47,517,191 (GRCm38) S479R probably damaging Het
Cul1 G T 6: 47,517,146 (GRCm38) K464N probably benign Het
Dcaf5 A T 12: 80,340,232 (GRCm38) D373E probably benign Het
Dhcr7 A G 7: 143,840,500 (GRCm38) Q126R probably benign Het
Dok2 T C 14: 70,777,516 (GRCm38) F228L probably damaging Het
Dpep3 T G 8: 105,976,189 (GRCm38) I314L probably benign Het
Eps8 A G 6: 137,514,295 (GRCm38) F362L probably damaging Het
Espn G T 4: 152,138,846 (GRCm38) R250S probably damaging Het
Faf1 A C 4: 109,742,896 (GRCm38) N163H probably damaging Het
Fcho1 C T 8: 71,710,481 (GRCm38) V635I probably benign Het
Garin5b C T 7: 4,757,469 (GRCm38) probably null Het
Gask1b C A 3: 79,936,674 (GRCm38) S36* probably null Het
Gm7579 G A 7: 142,211,908 (GRCm38) C17Y unknown Het
Gpx8 G T 13: 113,045,508 (GRCm38) Y130* probably null Het
Gvin1 A T 7: 106,163,436 (GRCm38) Y609N possibly damaging Het
Hectd4 T A 5: 121,305,818 (GRCm38) M30K probably benign Het
Iqub T C 6: 24,450,842 (GRCm38) D586G probably damaging Het
Klhl25 T C 7: 75,867,050 (GRCm38) I568T probably benign Het
Larp6 A G 9: 60,737,810 (GRCm38) E411G probably damaging Het
Lepr A C 4: 101,789,337 (GRCm38) I822L probably benign Het
Lrig3 C A 10: 126,011,052 (GRCm38) D896E probably benign Het
Lrp1 C T 10: 127,553,824 (GRCm38) G3114D probably damaging Het
Lyset A T 12: 102,744,055 (GRCm38) probably benign Het
Macf1 A T 4: 123,486,750 (GRCm38) Y1263N probably damaging Het
Mapk10 T C 5: 102,990,619 (GRCm38) D180G probably damaging Het
Matr3 T A 18: 35,581,640 (GRCm38) V113E probably damaging Het
Mbd4 A T 6: 115,848,926 (GRCm38) F368Y possibly damaging Het
Mcpt8 G A 14: 56,082,280 (GRCm38) R238W probably benign Het
Mcrip2 G T 17: 25,864,647 (GRCm38) T86N possibly damaging Het
Mink1 A G 11: 70,611,592 (GRCm38) N1043S probably damaging Het
Muc4 G A 16: 32,754,616 (GRCm38) G1497R probably benign Het
Muc4 T A 16: 32,754,625 (GRCm38) S1500T probably benign Het
Nbeal2 G A 9: 110,635,194 (GRCm38) T1128I probably benign Het
Nrg2 T A 18: 36,196,547 (GRCm38) Y205F probably damaging Het
Nubp2 A G 17: 24,884,456 (GRCm38) M149T probably benign Het
Or4d2b T A 11: 87,889,225 (GRCm38) M224L probably damaging Het
Or8d6 G T 9: 39,942,504 (GRCm38) M81I probably benign Het
Or8j3c T C 2: 86,422,957 (GRCm38) T240A probably damaging Het
Pax3 A G 1: 78,192,456 (GRCm38) I191T possibly damaging Het
Pdcd5 T C 7: 35,643,710 (GRCm38) N137D possibly damaging Het
Pik3c2a G A 7: 116,340,156 (GRCm38) A1649V probably damaging Het
Pkhd1l1 T C 15: 44,537,378 (GRCm38) S2183P possibly damaging Het
Plekho1 T A 3: 95,988,993 (GRCm38) Q388L possibly damaging Het
Ppfibp1 A G 6: 146,990,514 (GRCm38) T91A probably benign Het
Ptger4 G T 15: 5,242,606 (GRCm38) N177K probably benign Het
Reln A G 5: 21,901,751 (GRCm38) F3207S probably benign Het
Rigi G T 4: 40,210,000 (GRCm38) S644R probably damaging Het
Ripk4 C T 16: 97,751,536 (GRCm38) R194H probably damaging Het
Rprd1b T G 2: 158,074,935 (GRCm38) Y278* probably null Het
Sel1l A G 12: 91,831,602 (GRCm38) L140P probably damaging Het
Shroom3 G T 5: 92,943,086 (GRCm38) V1151F probably damaging Het
Slc38a3 A G 9: 107,655,064 (GRCm38) V423A probably damaging Het
Slitrk6 T C 14: 110,751,883 (GRCm38) T131A probably damaging Het
Slmap A T 14: 26,460,209 (GRCm38) V323E probably benign Het
Smim6 T C 11: 115,913,504 (GRCm38) V39A probably benign Het
Sorbs1 T C 19: 40,337,005 (GRCm38) T382A probably benign Het
Sparc G A 11: 55,399,211 (GRCm38) T218I possibly damaging Het
Steap1 A T 5: 5,736,589 (GRCm38) F283I probably damaging Het
Stil A G 4: 115,038,474 (GRCm38) T586A probably benign Het
Tbce T A 13: 14,019,795 (GRCm38) D93V probably damaging Het
Tcf12 C T 9: 71,858,840 (GRCm38) G504S probably null Het
Tex55 A G 16: 38,828,145 (GRCm38) S201P probably damaging Het
Tle4 A T 19: 14,464,345 (GRCm38) I435K probably benign Het
Tmem245 A G 4: 56,899,164 (GRCm38) F254S probably damaging Het
Tubgcp3 T C 8: 12,649,722 (GRCm38) K377R probably benign Het
Ush2a A T 1: 188,553,275 (GRCm38) T2003S probably benign Het
Usp53 A G 3: 122,961,363 (GRCm38) S32P possibly damaging Het
Vmn1r78 T A 7: 12,152,756 (GRCm38) L98Q probably damaging Het
Vmn2r116 A C 17: 23,401,803 (GRCm38) Q837P probably benign Het
Vmn2r3 T C 3: 64,275,601 (GRCm38) I226V probably benign Het
Vmn2r84 T A 10: 130,385,843 (GRCm38) D836V probably damaging Het
Vps13d A G 4: 145,087,161 (GRCm38) F165L probably benign Het
Vstm4 A G 14: 32,863,785 (GRCm38) E103G possibly damaging Het
Zfp870 A T 17: 32,883,340 (GRCm38) C339* probably null Het
Other mutations in Rnf112
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Rnf112 APN 11 61,452,784 (GRCm38) missense probably damaging 1.00
IGL01339:Rnf112 APN 11 61,450,477 (GRCm38) missense probably benign 0.00
IGL01469:Rnf112 APN 11 61,451,341 (GRCm38) missense possibly damaging 0.94
IGL02102:Rnf112 APN 11 61,452,015 (GRCm38) missense probably benign 0.36
IGL02216:Rnf112 APN 11 61,449,978 (GRCm38) missense probably damaging 1.00
IGL02431:Rnf112 APN 11 61,450,379 (GRCm38) missense probably benign 0.17
IGL02638:Rnf112 APN 11 61,449,405 (GRCm38) utr 3 prime probably benign
IGL02657:Rnf112 APN 11 61,450,252 (GRCm38) splice site probably null
R0041:Rnf112 UTSW 11 61,452,355 (GRCm38) missense probably damaging 1.00
R1514:Rnf112 UTSW 11 61,450,410 (GRCm38) missense probably benign 0.01
R1991:Rnf112 UTSW 11 61,452,426 (GRCm38) missense probably damaging 1.00
R2119:Rnf112 UTSW 11 61,451,028 (GRCm38) missense possibly damaging 0.92
R2216:Rnf112 UTSW 11 61,452,279 (GRCm38) missense probably damaging 1.00
R2880:Rnf112 UTSW 11 61,450,467 (GRCm38) missense possibly damaging 0.89
R3775:Rnf112 UTSW 11 61,450,185 (GRCm38) splice site probably benign
R3904:Rnf112 UTSW 11 61,450,385 (GRCm38) missense probably damaging 1.00
R4646:Rnf112 UTSW 11 61,452,110 (GRCm38) missense probably damaging 0.99
R4710:Rnf112 UTSW 11 61,449,831 (GRCm38) missense probably damaging 1.00
R4860:Rnf112 UTSW 11 61,452,744 (GRCm38) missense possibly damaging 0.67
R4894:Rnf112 UTSW 11 61,452,662 (GRCm38) missense probably damaging 1.00
R4930:Rnf112 UTSW 11 61,453,465 (GRCm38) missense probably benign
R4967:Rnf112 UTSW 11 61,452,926 (GRCm38) splice site probably benign
R4992:Rnf112 UTSW 11 61,452,711 (GRCm38) missense possibly damaging 0.72
R5547:Rnf112 UTSW 11 61,451,028 (GRCm38) missense possibly damaging 0.92
R5874:Rnf112 UTSW 11 61,449,447 (GRCm38) missense probably damaging 0.98
R5997:Rnf112 UTSW 11 61,451,022 (GRCm38) missense possibly damaging 0.87
R6023:Rnf112 UTSW 11 61,449,729 (GRCm38) missense probably damaging 1.00
R6906:Rnf112 UTSW 11 61,450,389 (GRCm38) missense probably null 0.38
R7194:Rnf112 UTSW 11 61,450,857 (GRCm38) missense probably damaging 1.00
R7439:Rnf112 UTSW 11 61,451,028 (GRCm38) missense possibly damaging 0.92
R7984:Rnf112 UTSW 11 61,449,480 (GRCm38) missense possibly damaging 0.79
R8984:Rnf112 UTSW 11 61,452,451 (GRCm38) missense possibly damaging 0.90
R9756:Rnf112 UTSW 11 61,449,841 (GRCm38) missense probably damaging 1.00
Z1177:Rnf112 UTSW 11 61,449,679 (GRCm38) missense probably damaging 1.00
Z1186:Rnf112 UTSW 11 61,450,949 (GRCm38) missense unknown
Z1187:Rnf112 UTSW 11 61,450,949 (GRCm38) missense unknown
Z1188:Rnf112 UTSW 11 61,450,949 (GRCm38) missense unknown
Z1189:Rnf112 UTSW 11 61,450,949 (GRCm38) missense unknown
Z1190:Rnf112 UTSW 11 61,450,949 (GRCm38) missense unknown
Z1191:Rnf112 UTSW 11 61,450,949 (GRCm38) missense unknown
Z1192:Rnf112 UTSW 11 61,450,949 (GRCm38) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGTTGAGAGTCCAGCCTGG -3'
(R):5'- ATTCGGATGATGTCCTGCCC -3'

Sequencing Primer
(F):5'- CCCCTGCTGGACAGTATAGAGTAG -3'
(R):5'- GATGATGTCCTGCCCTCCAG -3'
Posted On 2016-03-01