Incidental Mutation 'IGL02535:Radx'
ID 297474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Radx
Ensembl Gene ENSMUSG00000042498
Gene Name RPA1 related single stranded DNA binding protein, X-linked
Synonyms D330045A20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02535
Quality Score
Status
Chromosome X
Chromosomal Location 138381116-138455331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138393396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 217 (K217I)
Ref Sequence ENSEMBL: ENSMUSP00000108653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046763] [ENSMUST00000113030]
AlphaFold Q8C779
Predicted Effect probably damaging
Transcript: ENSMUST00000046763
AA Change: K217I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046045
Gene: ENSMUSG00000042498
AA Change: K217I

DomainStartEndE-ValueType
SCOP:d1fgua1 217 337 3e-13 SMART
low complexity region 505 510 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113030
AA Change: K217I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108653
Gene: ENSMUSG00000042498
AA Change: K217I

DomainStartEndE-ValueType
SCOP:d1fgua1 217 337 3e-13 SMART
low complexity region 506 511 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125750
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 G T 6: 142,574,152 (GRCm39) D993E probably benign Het
Acap1 T C 11: 69,773,520 (GRCm39) N430D probably benign Het
Actl11 T A 9: 107,807,136 (GRCm39) D486E possibly damaging Het
Adh6a A G 3: 138,033,151 (GRCm39) N281D probably benign Het
Apon A T 10: 128,090,823 (GRCm39) E167V probably damaging Het
Bahcc1 T A 11: 120,178,362 (GRCm39) M2307K possibly damaging Het
Cdca3 A G 6: 124,807,521 (GRCm39) T10A probably damaging Het
Cplane1 T G 15: 8,204,322 (GRCm39) V65G probably damaging Het
Dusp16 T C 6: 134,695,790 (GRCm39) E347G probably benign Het
Dysf A T 6: 84,126,679 (GRCm39) Y1298F possibly damaging Het
F12 T C 13: 55,574,157 (GRCm39) D25G possibly damaging Het
F5 T A 1: 164,026,302 (GRCm39) S1625T probably damaging Het
Fbxl2 T C 9: 113,808,575 (GRCm39) E372G probably benign Het
Flrt1 T C 19: 7,074,098 (GRCm39) I150V probably benign Het
Grin2b T A 6: 135,756,367 (GRCm39) I453F possibly damaging Het
Hivep2 C T 10: 14,015,241 (GRCm39) R1803C probably damaging Het
Il33 A G 19: 29,930,147 (GRCm39) N81D probably benign Het
Ipo7 T C 7: 109,653,233 (GRCm39) Y977H probably damaging Het
Lyst T C 13: 13,824,927 (GRCm39) V1514A probably benign Het
Map1a C A 2: 121,132,658 (GRCm39) S920* probably null Het
Nlrp9c T C 7: 26,071,522 (GRCm39) N862S probably damaging Het
Or1e29 A G 11: 73,667,442 (GRCm39) V237A probably benign Het
Or8k22 A G 2: 86,163,019 (GRCm39) M227T probably damaging Het
Or9s23 C A 1: 92,500,943 (GRCm39) Q17K probably benign Het
P2rx2 T A 5: 110,490,219 (GRCm39) T134S probably benign Het
Papolg T C 11: 23,840,245 (GRCm39) D77G probably benign Het
Pkd1l3 A T 8: 110,367,522 (GRCm39) R1240* probably null Het
Slc22a8 A T 19: 8,587,567 (GRCm39) T514S probably benign Het
Slc39a5 T C 10: 128,235,199 (GRCm39) D136G probably benign Het
Tnn T C 1: 159,950,222 (GRCm39) probably null Het
Trav8d-2 A T 14: 53,280,141 (GRCm39) S44C probably damaging Het
Tubb1 A G 2: 174,299,359 (GRCm39) N347S probably benign Het
Ubap1 C T 4: 41,379,667 (GRCm39) R294* probably null Het
Ube2o C T 11: 116,432,591 (GRCm39) V792M probably benign Het
Usp13 A G 3: 32,892,075 (GRCm39) S85G probably benign Het
Vmac C T 17: 57,022,550 (GRCm39) M61I probably benign Het
Vmn1r54 T A 6: 90,246,260 (GRCm39) I58N possibly damaging Het
Zmym5 A G 14: 57,035,123 (GRCm39) probably null Het
Other mutations in Radx
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3054:Radx UTSW X 138,412,306 (GRCm39) missense possibly damaging 0.85
R3055:Radx UTSW X 138,412,306 (GRCm39) missense possibly damaging 0.85
R4042:Radx UTSW X 138,407,752 (GRCm39) missense probably damaging 0.98
R4043:Radx UTSW X 138,407,752 (GRCm39) missense probably damaging 0.98
R4044:Radx UTSW X 138,407,752 (GRCm39) missense probably damaging 0.98
R4426:Radx UTSW X 138,381,645 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16