Incidental Mutation 'IGL03176:Rnf186'
ID 411994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf186
Ensembl Gene ENSMUSG00000070661
Gene Name ring finger protein 186
Synonyms 9130020G10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL03176
Quality Score
Status
Chromosome 4
Chromosomal Location 138694430-138695676 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138695231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 257 (N257S)
Ref Sequence ENSEMBL: ENSMUSP00000111780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043042] [ENSMUST00000050949] [ENSMUST00000116094] [ENSMUST00000123636]
AlphaFold Q9D241
Predicted Effect probably benign
Transcript: ENSMUST00000043042
SMART Domains Protein: ENSMUSP00000041388
Gene: ENSMUSG00000041143

DomainStartEndE-ValueType
Pfam:DUF726 182 518 1.1e-138 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000050949
SMART Domains Protein: ENSMUSP00000059320
Gene: ENSMUSG00000041143

DomainStartEndE-ValueType
Pfam:DUF726 182 518 5.3e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116094
AA Change: N257S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111780
Gene: ENSMUSG00000070661
AA Change: N257S

DomainStartEndE-ValueType
RING 93 138 4.99e-5 SMART
transmembrane domain 208 226 N/A INTRINSIC
transmembrane domain 230 252 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124835
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 C A 1: 63,602,575 (GRCm39) P579Q probably damaging Het
Adam6a A G 12: 113,509,822 (GRCm39) T732A probably benign Het
Ahnak T A 19: 8,985,530 (GRCm39) N2271K possibly damaging Het
Ahnak T C 19: 8,979,813 (GRCm39) S366P probably damaging Het
Akr1a1 A G 4: 116,496,272 (GRCm39) L213S probably damaging Het
Ammecr1l T A 18: 31,905,102 (GRCm39) D114E possibly damaging Het
Casq2 G T 3: 102,033,970 (GRCm39) V167L possibly damaging Het
Cd164l2 T C 4: 132,951,565 (GRCm39) I172T possibly damaging Het
Clec4g C T 8: 3,768,441 (GRCm39) V97M possibly damaging Het
Dnah8 T A 17: 30,913,011 (GRCm39) N1068K probably benign Het
Epyc A G 10: 97,485,562 (GRCm39) M1V probably null Het
Eya3 A G 4: 132,439,233 (GRCm39) E437G possibly damaging Het
Fbln1 C T 15: 85,128,507 (GRCm39) T568I possibly damaging Het
Fcrl1 A T 3: 87,298,564 (GRCm39) N353I probably damaging Het
Gm10272 A T 10: 77,542,467 (GRCm39) H3L probably null Het
Gm15130 A G 2: 110,978,846 (GRCm39) S32P unknown Het
Gm20379 C A 13: 92,442,529 (GRCm39) probably benign Het
Igf2r A T 17: 12,935,559 (GRCm39) Y644N probably damaging Het
Krtap4-9 T C 11: 99,676,106 (GRCm39) probably benign Het
Man2c1 A G 9: 57,048,030 (GRCm39) N739D probably benign Het
Mcm5 C T 8: 75,836,481 (GRCm39) T49M possibly damaging Het
Otof C T 5: 30,562,520 (GRCm39) probably null Het
Ptgr2 C T 12: 84,354,668 (GRCm39) T283I probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Rnd1 A T 15: 98,568,569 (GRCm39) L203H probably damaging Het
Rsf1 T C 7: 97,328,357 (GRCm39) probably benign Het
Ryr2 G A 13: 11,756,909 (GRCm39) Q1582* probably null Het
Sntg2 G A 12: 30,317,022 (GRCm39) probably benign Het
Spata31d1c A G 13: 65,184,825 (GRCm39) D789G probably benign Het
Strc A C 2: 121,202,661 (GRCm39) L1168R probably damaging Het
Tmtc3 A T 10: 100,301,993 (GRCm39) S319T possibly damaging Het
Vmn1r88 A T 7: 12,911,779 (GRCm39) D45V probably damaging Het
Vps13d A T 4: 144,801,533 (GRCm39) F3531I probably benign Het
Other mutations in Rnf186
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1856:Rnf186 UTSW 4 138,694,673 (GRCm39) missense probably benign 0.32
R4811:Rnf186 UTSW 4 138,694,498 (GRCm39) missense probably benign 0.08
R4871:Rnf186 UTSW 4 138,695,254 (GRCm39) missense probably benign 0.42
R5008:Rnf186 UTSW 4 138,694,540 (GRCm39) missense probably benign 0.00
R5619:Rnf186 UTSW 4 138,694,715 (GRCm39) missense probably benign 0.43
R6051:Rnf186 UTSW 4 138,695,277 (GRCm39) missense probably damaging 1.00
R6158:Rnf186 UTSW 4 138,694,565 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02