Incidental Mutation 'IGL01508:Rnf166'
ID89128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rnf166
Ensembl Gene ENSMUSG00000014470
Gene Namering finger protein 166
Synonyms1110031E24Rik, Zfp313l
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01508
Quality Score
Status
Chromosome8
Chromosomal Location122466147-122476064 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 122470342 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 57 (C57F)
Ref Sequence ENSEMBL: ENSMUSP00000014614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014614] [ENSMUST00000127664]
Predicted Effect probably damaging
Transcript: ENSMUST00000014614
AA Change: C57F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000014614
Gene: ENSMUSG00000014470
AA Change: C57F

DomainStartEndE-ValueType
RING 33 72 3.29e-5 SMART
ZnF_C2H2 150 173 7.05e-1 SMART
ZnF_C2H2 180 208 9.56e1 SMART
low complexity region 222 236 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148780
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175383
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,659,367 R732* probably null Het
Adarb2 C A 13: 8,752,570 probably null Het
Alb C T 5: 90,470,838 A430V probably benign Het
Cdhr3 A T 12: 33,053,428 F397I possibly damaging Het
Cmya5 A G 13: 93,094,027 S1518P probably benign Het
Col6a4 T A 9: 106,013,605 Y1830F possibly damaging Het
Col6a6 A G 9: 105,727,166 probably benign Het
Dnah7a T C 1: 53,627,072 S599G probably benign Het
Fbxo3 A T 2: 104,033,676 H92L probably benign Het
Ffar2 T C 7: 30,819,176 D313G probably benign Het
Fnta T C 8: 26,007,266 E185G probably damaging Het
Gdap2 C T 3: 100,170,927 T69I possibly damaging Het
Gimap7 A T 6: 48,724,296 N272I probably damaging Het
Gin1 T C 1: 97,777,437 V84A probably benign Het
Itga8 A G 2: 12,232,802 L369P possibly damaging Het
Itgax C T 7: 128,144,818 T891I probably damaging Het
Lama1 T A 17: 67,809,361 probably benign Het
Lkaaear1 T C 2: 181,697,037 T169A probably benign Het
Nckap5 A G 1: 126,025,572 V1017A probably damaging Het
Nemf A C 12: 69,344,986 probably benign Het
Osr1 A G 12: 9,579,370 D81G probably damaging Het
Pate4 A T 9: 35,608,306 C29* probably null Het
Prkce C T 17: 86,630,085 R649C probably damaging Het
Ptpn5 A G 7: 47,091,555 V14A probably benign Het
Tenm3 A G 8: 48,276,645 I1426T probably benign Het
Trpm6 C T 19: 18,796,530 Q424* probably null Het
Ttc27 T A 17: 74,835,357 S606T probably damaging Het
Tyrp1 T C 4: 80,840,765 S292P possibly damaging Het
Wdr70 A G 15: 8,079,263 V133A probably benign Het
Wdr78 G A 4: 103,072,687 P369L possibly damaging Het
Ylpm1 T C 12: 85,015,455 F252S possibly damaging Het
Other mutations in Rnf166
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02000:Rnf166 APN 8 122467222 missense probably damaging 1.00
R4426:Rnf166 UTSW 8 122470240 missense probably damaging 1.00
Posted On2013-12-03