Incidental Mutation 'IGL01112:Rnf114'
ID 50547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf114
Ensembl Gene ENSMUSG00000006418
Gene Name ring finger protein 114
Synonyms Znf228, Zfp313, 1110008J21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01112
Quality Score
Status
Chromosome 2
Chromosomal Location 167334565-167358093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 167354459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 180 (M180T)
Ref Sequence ENSEMBL: ENSMUSP00000104837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078050] [ENSMUST00000109214] [ENSMUST00000127939]
AlphaFold Q9ET26
Predicted Effect probably damaging
Transcript: ENSMUST00000078050
AA Change: M180T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077197
Gene: ENSMUSG00000006418
AA Change: M180T

DomainStartEndE-ValueType
RING 30 68 3.47e-4 SMART
ZnF_C2H2 142 165 4.05e-1 SMART
ZnF_C2H2 172 200 5.83e1 SMART
low complexity region 204 216 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109214
AA Change: M180T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104837
Gene: ENSMUSG00000006418
AA Change: M180T

DomainStartEndE-ValueType
RING 30 68 3.47e-4 SMART
ZnF_C2H2 142 165 4.05e-1 SMART
ZnF_C2H2 172 200 5.83e1 SMART
low complexity region 204 216 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127939
SMART Domains Protein: ENSMUSP00000138430
Gene: ENSMUSG00000006418

DomainStartEndE-ValueType
SCOP:d1fbva4 6 48 1e-7 SMART
Blast:RING 30 48 8e-6 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 T C 7: 144,190,882 (GRCm39) I401V possibly damaging Het
Ap2a2 A T 7: 141,184,932 (GRCm39) probably benign Het
Apol7c T A 15: 77,410,637 (GRCm39) D103V probably damaging Het
Arid4a T C 12: 71,119,507 (GRCm39) probably null Het
Atp2a1 A G 7: 126,049,479 (GRCm39) V521A probably benign Het
Ccdc88c G T 12: 100,883,062 (GRCm39) D1603E probably benign Het
Clec4f T C 6: 83,630,182 (GRCm39) I125M probably benign Het
Dsc1 T C 18: 20,227,679 (GRCm39) I520V probably benign Het
Eomes G A 9: 118,311,334 (GRCm39) A386T probably damaging Het
Gldc C T 19: 30,135,913 (GRCm39) probably null Het
Hectd4 G T 5: 121,445,013 (GRCm39) M1420I probably benign Het
Hmcn1 A T 1: 150,508,303 (GRCm39) probably benign Het
Ighv6-3 G A 12: 114,355,335 (GRCm39) T118I possibly damaging Het
Krt82 A G 15: 101,453,958 (GRCm39) F250S probably damaging Het
Ltb A G 17: 35,413,576 (GRCm39) T27A probably benign Het
Mex3b T A 7: 82,518,911 (GRCm39) S409T probably benign Het
Mki67 A T 7: 135,315,745 (GRCm39) I39N probably damaging Het
Or51a7 A G 7: 102,615,235 (GRCm39) probably benign Het
Palmd A G 3: 116,717,922 (GRCm39) S192P probably damaging Het
Pcdh20 A T 14: 88,704,636 (GRCm39) M888K probably benign Het
Pclo A T 5: 14,731,083 (GRCm39) H3195L unknown Het
Pgm2 A T 5: 64,260,225 (GRCm39) I137F possibly damaging Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Rmnd1 T C 10: 4,360,793 (GRCm39) probably null Het
Sap30 A G 8: 57,938,123 (GRCm39) F165L possibly damaging Het
Scgb3a2 T A 18: 43,900,059 (GRCm39) probably benign Het
Sftpa1 A T 14: 40,854,527 (GRCm39) N38I probably benign Het
Sumf1 A G 6: 108,152,977 (GRCm39) F137S probably damaging Het
Tln2 C A 9: 67,219,093 (GRCm39) R284L probably damaging Het
Ttn C T 2: 76,570,703 (GRCm39) R26730Q probably damaging Het
Ttn T A 2: 76,540,808 (GRCm39) R25732S probably damaging Het
Tubgcp4 T C 2: 121,004,082 (GRCm39) V41A probably benign Het
Usp53 T A 3: 122,751,367 (GRCm39) Q230L probably damaging Het
Vmn2r57 T C 7: 41,074,467 (GRCm39) E532G probably damaging Het
Vps9d1 G T 8: 123,972,769 (GRCm39) N454K probably damaging Het
Wdr55 T C 18: 36,895,132 (GRCm39) probably null Het
Zfp263 T A 16: 3,566,776 (GRCm39) C76S probably benign Het
Other mutations in Rnf114
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01942:Rnf114 APN 2 167,354,546 (GRCm39) critical splice donor site probably null
R0352:Rnf114 UTSW 2 167,353,136 (GRCm39) missense probably benign
R1553:Rnf114 UTSW 2 167,354,522 (GRCm39) missense possibly damaging 0.50
R2118:Rnf114 UTSW 2 167,352,803 (GRCm39) missense probably damaging 1.00
R5665:Rnf114 UTSW 2 167,352,854 (GRCm39) missense possibly damaging 0.80
R6251:Rnf114 UTSW 2 167,356,649 (GRCm39) makesense probably null
R6477:Rnf114 UTSW 2 167,345,408 (GRCm39) missense probably benign 0.00
R7529:Rnf114 UTSW 2 167,349,014 (GRCm39) missense possibly damaging 0.80
R7733:Rnf114 UTSW 2 167,354,438 (GRCm39) missense probably damaging 1.00
R8905:Rnf114 UTSW 2 167,353,134 (GRCm39) missense probably benign
R9602:Rnf114 UTSW 2 167,353,162 (GRCm39) nonsense probably null
Posted On 2013-06-21