Incidental Mutation 'IGL02471:Rtraf'
ID294741
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtraf
Ensembl Gene ENSMUSG00000021807
Gene NameRNA transcription, translation and transport factor
Synonyms2700060E02Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02471
Quality Score
Status
Chromosome14
Chromosomal Location19811351-19823824 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 19812228 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 197 (L197R)
Ref Sequence ENSEMBL: ENSMUSP00000022341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022340] [ENSMUST00000022341]
Predicted Effect probably benign
Transcript: ENSMUST00000022340
SMART Domains Protein: ENSMUSP00000022340
Gene: ENSMUSG00000021806

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Blast:NIDO 39 77 3e-11 BLAST
NIDO 108 276 1.12e-72 SMART
low complexity region 421 430 N/A INTRINSIC
low complexity region 452 470 N/A INTRINSIC
EGF 510 547 1.84e1 SMART
G2F 548 780 4.36e-143 SMART
EGF 785 823 2.52e-2 SMART
EGF_CA 824 866 1.45e-11 SMART
EGF 874 914 3.15e-3 SMART
EGF_CA 915 953 5.03e-11 SMART
TY 988 1037 8.27e-20 SMART
TY 1068 1116 1.19e-20 SMART
LY 1162 1204 1.15e-5 SMART
LY 1206 1248 8.82e-16 SMART
LY 1249 1293 1.51e-14 SMART
LY 1294 1336 3.56e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000022341
AA Change: L197R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022341
Gene: ENSMUSG00000021807
AA Change: L197R

DomainStartEndE-ValueType
Pfam:RLL 2 244 3.4e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224057
Predicted Effect probably benign
Transcript: ENSMUST00000224263
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,258,198 H2378N probably benign Het
Btaf1 C A 19: 37,000,192 A1470E probably damaging Het
Ccdc110 A G 8: 45,941,756 D228G probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cldn18 T C 9: 99,696,075 D205G probably benign Het
Clip2 T C 5: 134,518,022 T231A probably benign Het
Cltc A G 11: 86,718,034 V723A probably damaging Het
Cpa3 C T 3: 20,228,807 probably null Het
Cyfip2 T G 11: 46,200,803 T1097P possibly damaging Het
Dnah9 T A 11: 65,947,618 R667* probably null Het
Dock10 T C 1: 80,515,622 E1878G probably damaging Het
Ermap G A 4: 119,179,963 H353Y probably damaging Het
Etfa A T 9: 55,486,700 probably null Het
F5 C T 1: 164,174,291 P188S probably damaging Het
Foxq1 G A 13: 31,559,343 E143K possibly damaging Het
Gsr C T 8: 33,682,584 probably benign Het
Hebp1 T A 6: 135,155,276 Y31F probably benign Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Lamb1 T A 12: 31,320,908 D1319E probably damaging Het
Lrp5 A T 19: 3,602,408 V1154E probably benign Het
Manba G A 3: 135,507,008 probably benign Het
Mknk2 A T 10: 80,668,121 F319I probably damaging Het
Mup6 A T 4: 60,003,971 probably benign Het
Nalcn T C 14: 123,323,314 T784A probably benign Het
Nt5dc1 T C 10: 34,403,725 E107G probably benign Het
Olfr1497 G A 19: 13,795,225 P129S probably damaging Het
Olfr688 T A 7: 105,289,045 F317L probably benign Het
Olfr745 A T 14: 50,642,757 I159F probably benign Het
Phldb1 T C 9: 44,711,233 E41G probably damaging Het
Ptk2 T C 15: 73,298,187 D309G probably benign Het
Rab11fip5 A G 6: 85,348,225 S367P probably damaging Het
Rb1cc1 T A 1: 6,240,051 N224K probably benign Het
Rchy1 A T 5: 91,957,546 C65* probably null Het
Rgs18 T C 1: 144,774,621 D56G probably benign Het
Slc44a5 G T 3: 154,256,576 W382L probably damaging Het
Snx24 C T 18: 53,385,169 probably benign Het
Sphkap T C 1: 83,276,176 D1284G probably damaging Het
Tmem54 A G 4: 129,108,318 M53V probably benign Het
Trip6 G A 5: 137,310,356 P414S probably benign Het
Vmn1r38 A G 6: 66,776,767 Y122H probably benign Het
Wapl T A 14: 34,691,920 N246K possibly damaging Het
Zfp12 G A 5: 143,244,796 G293R probably damaging Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Zfp446 T G 7: 12,982,254 V209G probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Rtraf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02971:Rtraf APN 14 19816192 missense possibly damaging 0.95
R0326:Rtraf UTSW 14 19814532 splice site probably null
R0601:Rtraf UTSW 14 19816206 missense possibly damaging 0.57
R1716:Rtraf UTSW 14 19812174 missense probably damaging 1.00
R4628:Rtraf UTSW 14 19817087 missense probably benign 0.19
R4816:Rtraf UTSW 14 19822576 missense probably benign
R4917:Rtraf UTSW 14 19823716 missense probably damaging 1.00
R6519:Rtraf UTSW 14 19819930 missense possibly damaging 0.64
Posted On2015-04-16