Incidental Mutation 'IGL02971:Rtraf'
ID 365810
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtraf
Ensembl Gene ENSMUSG00000021807
Gene Name RNA transcription, translation and transport factor
Synonyms 2700060E02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02971
Quality Score
Status
Chromosome 14
Chromosomal Location 19861470-19873891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19866260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 152 (M152K)
Ref Sequence ENSEMBL: ENSMUSP00000022341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022340] [ENSMUST00000022341]
AlphaFold Q9CQE8
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 possibly damaging
Transcript: ENSMUST00000022341
AA Change: M152K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022341
Gene: ENSMUSG00000021807
AA Change: M152K

DomainStartEndE-ValueType
Pfam:RLL 2 244 3.4e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225615
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in Rtraf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Rtraf APN 14 19,862,296 (GRCm39) missense probably damaging 0.96
R0326:Rtraf UTSW 14 19,864,600 (GRCm39) splice site probably null
R0601:Rtraf UTSW 14 19,866,274 (GRCm39) missense possibly damaging 0.57
R1716:Rtraf UTSW 14 19,862,242 (GRCm39) missense probably damaging 1.00
R4628:Rtraf UTSW 14 19,867,155 (GRCm39) missense probably benign 0.19
R4816:Rtraf UTSW 14 19,872,644 (GRCm39) missense probably benign
R4917:Rtraf UTSW 14 19,873,784 (GRCm39) missense probably damaging 1.00
R6519:Rtraf UTSW 14 19,869,998 (GRCm39) missense possibly damaging 0.64
R8059:Rtraf UTSW 14 19,872,631 (GRCm39) splice site probably benign
R9763:Rtraf UTSW 14 19,866,314 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18