Incidental Mutation 'R6256:Xrra1'
ID 506115
Institutional Source Beutler Lab
Gene Symbol Xrra1
Ensembl Gene ENSMUSG00000035211
Gene Name X-ray radiation resistance associated 1
Synonyms
MMRRC Submission 044373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6256 (G1)
Quality Score 170.009
Status Validated
Chromosome 7
Chromosomal Location 99508425-99567031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 99563671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 553 (S553R)
Ref Sequence ENSEMBL: ENSMUSP00000035929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036155]
AlphaFold Q3U3V8
Predicted Effect probably damaging
Transcript: ENSMUST00000036155
AA Change: S553R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
AA Change: S553R

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
Blast:LRR 144 168 4e-6 BLAST
LRR 191 214 2.02e-1 SMART
LRR 232 253 1.67e2 SMART
LRR 257 278 6.41e1 SMART
LRR 371 398 4.09e1 SMART
low complexity region 748 756 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208449
Meta Mutation Damage Score 0.1166 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A T 8: 73,205,272 (GRCm39) Q361L probably damaging Het
Abca7 A G 10: 79,838,456 (GRCm39) T577A probably damaging Het
Acad12 A T 5: 121,752,149 (GRCm39) V54E probably benign Het
Ago4 A G 4: 126,414,019 (GRCm39) Y91H probably damaging Het
Akr1b10 T C 6: 34,364,623 (GRCm39) V28A probably damaging Het
Ccdc33 T A 9: 58,009,201 (GRCm39) probably null Het
Ccdc7a T C 8: 129,662,074 (GRCm39) probably null Het
Ces1f A T 8: 93,992,422 (GRCm39) V343E probably damaging Het
Cftr T C 6: 18,274,660 (GRCm39) L896P probably damaging Het
Csmd3 G A 15: 47,533,125 (GRCm39) P2375S probably damaging Het
Dnajb14 C T 3: 137,614,124 (GRCm39) A345V probably damaging Het
Dnajb14 G C 3: 137,614,123 (GRCm39) A345P probably damaging Het
Dnase1 G A 16: 3,855,485 (GRCm39) R24K probably benign Het
Dnmbp C T 19: 43,840,720 (GRCm39) V560M probably damaging Het
Dop1b T A 16: 93,604,102 (GRCm39) I1981N possibly damaging Het
Eif3a A C 19: 60,759,464 (GRCm39) S770A possibly damaging Het
Fbxl7 A T 15: 26,553,088 (GRCm39) C60S probably benign Het
Fras1 A T 5: 96,881,702 (GRCm39) D2478V possibly damaging Het
Hrnr A G 3: 93,229,918 (GRCm39) D52G probably damaging Het
Jmjd1c T A 10: 67,056,187 (GRCm39) L823M probably damaging Het
Kdm1a G T 4: 136,295,911 (GRCm39) C172* probably null Het
Kdm6b C T 11: 69,297,555 (GRCm39) E295K probably damaging Het
Mepe A T 5: 104,484,940 (GRCm39) M27L probably benign Het
Mogat2 A T 7: 98,869,102 (GRCm39) H305Q probably damaging Het
Mst1r T A 9: 107,794,465 (GRCm39) Y1215N probably damaging Het
Muc5ac A T 7: 141,343,532 (GRCm39) H48L possibly damaging Het
Myo7b T C 18: 32,116,748 (GRCm39) D953G probably damaging Het
Ocel1 T C 8: 71,824,472 (GRCm39) probably benign Het
Pcdhb6 A G 18: 37,468,978 (GRCm39) D633G probably damaging Het
Ppm1l A G 3: 69,405,230 (GRCm39) I176V probably benign Het
Sall3 C T 18: 81,013,076 (GRCm39) R1120H possibly damaging Het
Sbf1 G A 15: 89,185,070 (GRCm39) P1018S probably benign Het
Setbp1 T C 18: 78,900,472 (GRCm39) Y1065C probably damaging Het
Slc25a2 T C 18: 37,770,776 (GRCm39) probably null Het
Slc4a2 C A 5: 24,640,888 (GRCm39) T729K probably damaging Het
Sptlc2 T C 12: 87,402,305 (GRCm39) E207G probably damaging Het
Sult6b1 A T 17: 79,214,343 (GRCm39) F27I probably benign Het
Syf2 A T 4: 134,661,889 (GRCm39) K84N probably damaging Het
Tmem209 A T 6: 30,497,166 (GRCm39) N183K probably benign Het
Tmem232 G T 17: 65,785,397 (GRCm39) Q188K possibly damaging Het
Tomm70a A T 16: 56,973,055 (GRCm39) T598S probably benign Het
Ttll13 A G 7: 79,908,052 (GRCm39) T556A probably benign Het
Vmn2r120 A T 17: 57,831,700 (GRCm39) L363* probably null Het
Xpo6 G T 7: 125,707,791 (GRCm39) Q872K probably damaging Het
Zfy1 A T Y: 738,765 (GRCm39) V147E unknown Homo
Zfy2 T C Y: 2,116,267 (GRCm39) I258V probably benign Homo
Other mutations in Xrra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Xrra1 APN 7 99,524,401 (GRCm39) missense possibly damaging 0.76
IGL01938:Xrra1 APN 7 99,528,676 (GRCm39) critical splice donor site probably null
IGL02064:Xrra1 APN 7 99,563,411 (GRCm39) missense probably damaging 1.00
IGL02286:Xrra1 APN 7 99,563,434 (GRCm39) missense possibly damaging 0.62
IGL02415:Xrra1 APN 7 99,565,150 (GRCm39) missense probably benign
R0332:Xrra1 UTSW 7 99,525,449 (GRCm39) missense probably damaging 1.00
R0465:Xrra1 UTSW 7 99,528,578 (GRCm39) missense probably benign 0.00
R0533:Xrra1 UTSW 7 99,524,352 (GRCm39) splice site probably null
R0601:Xrra1 UTSW 7 99,560,175 (GRCm39) missense possibly damaging 0.95
R1539:Xrra1 UTSW 7 99,520,564 (GRCm39) missense probably damaging 1.00
R1672:Xrra1 UTSW 7 99,547,647 (GRCm39) missense probably benign 0.00
R1687:Xrra1 UTSW 7 99,525,451 (GRCm39) missense probably damaging 1.00
R1962:Xrra1 UTSW 7 99,560,227 (GRCm39) missense probably damaging 1.00
R2504:Xrra1 UTSW 7 99,546,803 (GRCm39) missense probably damaging 1.00
R4765:Xrra1 UTSW 7 99,555,775 (GRCm39) missense probably benign 0.19
R4967:Xrra1 UTSW 7 99,555,730 (GRCm39) missense probably damaging 0.99
R5213:Xrra1 UTSW 7 99,547,690 (GRCm39) missense possibly damaging 0.47
R5663:Xrra1 UTSW 7 99,535,250 (GRCm39) missense probably damaging 1.00
R5986:Xrra1 UTSW 7 99,525,462 (GRCm39) missense probably benign 0.40
R6269:Xrra1 UTSW 7 99,566,679 (GRCm39) missense probably damaging 1.00
R7234:Xrra1 UTSW 7 99,563,456 (GRCm39) missense possibly damaging 0.49
R7316:Xrra1 UTSW 7 99,525,423 (GRCm39) critical splice acceptor site probably null
R7655:Xrra1 UTSW 7 99,560,189 (GRCm39) missense probably benign 0.10
R7656:Xrra1 UTSW 7 99,560,189 (GRCm39) missense probably benign 0.10
R8688:Xrra1 UTSW 7 99,555,752 (GRCm39) missense probably damaging 1.00
R8788:Xrra1 UTSW 7 99,555,761 (GRCm39) missense probably benign 0.02
R9016:Xrra1 UTSW 7 99,525,462 (GRCm39) missense probably benign 0.11
R9196:Xrra1 UTSW 7 99,563,699 (GRCm39) critical splice donor site probably null
R9233:Xrra1 UTSW 7 99,516,574 (GRCm39) missense probably benign
R9545:Xrra1 UTSW 7 99,535,334 (GRCm39) missense possibly damaging 0.46
R9641:Xrra1 UTSW 7 99,561,088 (GRCm39) missense probably benign 0.05
R9742:Xrra1 UTSW 7 99,563,660 (GRCm39) missense probably benign 0.40
X0017:Xrra1 UTSW 7 99,565,307 (GRCm39) missense probably damaging 1.00
X0021:Xrra1 UTSW 7 99,547,693 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- CACTGAAGACACTTCTCACGAG -3'
(R):5'- TGCTGCCTATGTATGCCACAG -3'

Sequencing Primer
(F):5'- GACACTTCTCACGAGGCACTG -3'
(R):5'- ATGCCACAGGACATTGTGTC -3'
Posted On 2018-02-28