Incidental Mutation 'R4042:Radx'
ID 500476
Institutional Source Beutler Lab
Gene Symbol Radx
Ensembl Gene ENSMUSG00000042498
Gene Name RPA1 related single stranded DNA binding protein, X-linked
Synonyms D330045A20Rik
MMRRC Submission 040851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4042 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 138381116-138455331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138407752 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Serine to Leucine at position 364 (S364L)
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: S364L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046045
Gene: ENSMUSG00000042498
AA Change: S364L

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: S364L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108653
Gene: ENSMUSG00000042498
AA Change: S364L

DomainStartEndE-ValueType
SCOP:d1fgua1 217 337 3e-13 SMART
low complexity region 506 511 N/A INTRINSIC
Meta Mutation Damage Score 0.0751 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 A G 17: 33,768,514 (GRCm39) H864R possibly damaging Het
Akap6 A T 12: 53,186,162 (GRCm39) probably null Het
Alox5 A G 6: 116,437,979 (GRCm39) S3P possibly damaging Het
Bcl2l2 G A 14: 55,122,091 (GRCm39) E85K possibly damaging Het
Chd6 A T 2: 160,830,253 (GRCm39) I1014N probably damaging Het
Cog1 A T 11: 113,551,836 (GRCm39) Q156L probably damaging Het
Col28a1 G A 6: 8,014,678 (GRCm39) S909F probably damaging Het
Csmd3 C T 15: 47,477,480 (GRCm39) G3339D probably damaging Het
Cst11 A G 2: 148,613,200 (GRCm39) S42P probably benign Het
Cyp2d10 C T 15: 82,290,269 (GRCm39) R67H probably benign Het
Fsip2 G T 2: 82,813,896 (GRCm39) R3405L probably benign Het
H2-Ab1 T C 17: 34,483,834 (GRCm39) V65A probably benign Het
Hdac6 T C X: 7,797,731 (GRCm39) T993A probably benign Het
Insrr T A 3: 87,721,134 (GRCm39) M1095K probably damaging Het
Itih4 A T 14: 30,616,995 (GRCm39) N517I probably damaging Het
Krt10 C T 11: 99,277,819 (GRCm39) probably null Het
Mettl16 T A 11: 74,683,118 (GRCm39) F187I probably damaging Het
Miga2 T C 2: 30,257,738 (GRCm39) I12T possibly damaging Het
Muc5b T C 7: 141,418,624 (GRCm39) Y3857H possibly damaging Het
Ncoa1 A G 12: 4,317,871 (GRCm39) S165P probably damaging Het
Or5bb10 A T 19: 12,206,676 (GRCm39) I83N probably benign Het
Otol1 A G 3: 69,935,112 (GRCm39) D368G probably damaging Het
Pdlim2 C T 14: 70,402,228 (GRCm39) R296H probably damaging Het
Plxnb1 A G 9: 108,934,241 (GRCm39) D823G probably benign Het
Ppme1 A G 7: 99,990,272 (GRCm39) S226P probably damaging Het
Ppp4r3c1 A G X: 88,975,909 (GRCm39) F96S probably damaging Het
Prss40 G T 1: 34,599,960 (GRCm39) S9* probably null Het
Prune2 T C 19: 16,981,190 (GRCm39) probably null Het
Rgl2 C T 17: 34,156,236 (GRCm39) R775W probably damaging Het
Rpp40 A G 13: 36,082,549 (GRCm39) C275R probably benign Het
Rrm2 T C 12: 24,761,450 (GRCm39) Y162H probably benign Het
Spata6l A T 19: 28,923,183 (GRCm39) C80S possibly damaging Het
Syne1 T C 10: 4,991,584 (GRCm39) M8377V probably benign Het
Uchl4 A C 9: 64,142,839 (GRCm39) I107L probably benign Het
Ush1c T C 7: 45,870,952 (GRCm39) E276G probably damaging Het
Usp34 C T 11: 23,439,033 (GRCm39) P3532S possibly damaging Het
Vcan T A 13: 89,840,662 (GRCm39) L1627F probably benign Het
Ythdc1 T C 5: 86,964,383 (GRCm39) I76T probably benign Het
Other mutations in Radx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02535:Radx APN X 138,393,396 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TGAATCTTCGAGATCCACCAAC -3'
(R):5'- TCCAGCGGTATGACCAAAAG -3'

Sequencing Primer
(F):5'- GGAAATTGCCAAAACTAATTAACCG -3'
(R):5'- GCGGTATGACCAAAAGTCTTCACTG -3'
Posted On 2017-12-01