Incidental Mutation 'R9545:Xrra1'
ID 720053
Institutional Source Beutler Lab
Gene Symbol Xrra1
Ensembl Gene ENSMUSG00000035211
Gene Name X-ray radiation resistance associated 1
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R9545 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 99508425-99567031 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 99535334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 213 (V213D)
Ref Sequence ENSEMBL: ENSMUSP00000035929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036155] [ENSMUST00000207855] [ENSMUST00000208354]
AlphaFold Q3U3V8
Predicted Effect possibly damaging
Transcript: ENSMUST00000036155
AA Change: V213D

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
AA Change: V213D

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 possibly damaging
Transcript: ENSMUST00000207855
AA Change: V213D

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000208354
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,416,538 (GRCm39) L4100Q probably damaging Het
Acss2 C A 2: 155,403,716 (GRCm39) P652T probably damaging Het
Agl A T 3: 116,582,338 (GRCm39) I228N possibly damaging Het
Ap5m1 C G 14: 49,311,271 (GRCm39) Q114E possibly damaging Het
Apob C T 12: 8,033,890 (GRCm39) T201I possibly damaging Het
As3mt G A 19: 46,696,233 (GRCm39) V14I probably damaging Het
Atp1a4 T C 1: 172,078,464 (GRCm39) N258S probably benign Het
Atxn1l C T 8: 110,458,688 (GRCm39) V525M probably damaging Het
B4galnt4 T C 7: 140,644,804 (GRCm39) V208A probably benign Het
Bet1 A T 6: 4,077,973 (GRCm39) S89T probably damaging Het
Cdhr1 T G 14: 36,817,016 (GRCm39) N115T possibly damaging Het
Cstf1 C T 2: 172,212,885 (GRCm39) probably benign Het
Dcdc2c G T 12: 28,602,295 (GRCm39) T3K possibly damaging Het
Deup1 C T 9: 15,519,120 (GRCm39) E129K possibly damaging Het
Dgkg T C 16: 22,385,168 (GRCm39) E446G possibly damaging Het
Dolk A G 2: 30,176,016 (GRCm39) S10P probably benign Het
Gm1110 T C 9: 26,800,977 (GRCm39) T406A probably benign Het
Gm8439 C T 4: 120,445,957 (GRCm39) probably benign Het
Gna12 A G 5: 140,746,575 (GRCm39) I290T probably damaging Het
Gtf2h1 T C 7: 46,458,112 (GRCm39) probably null Het
Il4 C T 11: 53,504,837 (GRCm39) R76H probably damaging Het
Itgal T C 7: 126,929,422 (GRCm39) F1113S probably damaging Het
Kcnc3 T C 7: 44,245,357 (GRCm39) L549P probably damaging Het
Klhl26 T C 8: 70,904,164 (GRCm39) D582G probably damaging Het
Lhfpl5 C A 17: 28,799,079 (GRCm39) A196D probably damaging Het
Lipm T C 19: 34,090,392 (GRCm39) M191T probably benign Het
Lrp6 A G 6: 134,483,329 (GRCm39) Y459H probably damaging Het
Lzts1 C A 8: 69,591,286 (GRCm39) K287N probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mmp23 T A 4: 155,735,980 (GRCm39) Q224L probably benign Het
Ms4a13 C G 19: 11,147,332 (GRCm39) S194T unknown Het
Ms4a2 A G 19: 11,596,237 (GRCm39) F164S probably benign Het
Nudt15 A T 14: 73,760,918 (GRCm39) C58S probably damaging Het
Or2w25 A G 11: 59,504,275 (GRCm39) T162A probably benign Het
Or8h6 T C 2: 86,703,615 (GRCm39) I151V probably benign Het
Or9i1 A G 19: 13,839,217 (GRCm39) H20R possibly damaging Het
Panx3 A G 9: 37,575,437 (GRCm39) F142L probably damaging Het
Pik3r6 T C 11: 68,422,365 (GRCm39) Y255H probably damaging Het
Pnpt1 T C 11: 29,106,840 (GRCm39) V637A probably benign Het
Ppfibp2 T C 7: 107,337,504 (GRCm39) L602P probably damaging Het
Ppp2r3d T C 9: 101,089,214 (GRCm39) N370D probably benign Het
Ppp2r5d A T 17: 46,995,687 (GRCm39) I454N probably damaging Het
Pramel17 C A 4: 101,693,097 (GRCm39) C301F probably damaging Het
Radil A G 5: 142,492,392 (GRCm39) V412A probably benign Het
Reep3 TTGACAGATTTCATG TTG 10: 66,850,703 (GRCm39) probably benign Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skic3 T A 13: 76,259,832 (GRCm39) V44D probably damaging Het
Spink5 G A 18: 44,136,262 (GRCm39) V558I possibly damaging Het
Stxbp5l T C 16: 37,028,625 (GRCm39) probably null Het
Svs5 T A 2: 164,079,313 (GRCm39) Q198L possibly damaging Het
Thap2 A T 10: 115,208,834 (GRCm39) N95K probably benign Het
Tie1 A G 4: 118,336,112 (GRCm39) V718A probably benign Het
Trpm3 G A 19: 22,878,458 (GRCm39) E632K probably benign Het
Ube4a A T 9: 44,843,638 (GRCm39) probably null Het
Utp20 A G 10: 88,618,511 (GRCm39) I1163T probably benign Het
Vav2 C T 2: 27,173,351 (GRCm39) R491Q probably damaging Het
Wapl T A 14: 34,399,050 (GRCm39) F40I probably damaging Het
Wdfy3 A C 5: 102,100,957 (GRCm39) I220R Het
Zwilch A T 9: 64,051,415 (GRCm39) V550E probably damaging Het
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
R6256:Xrra1 UTSW 7 99,563,671 (GRCm39) missense probably damaging 0.99
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
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'- CCAAGAAGCTATCCTGTGGGTG -3'
(R):5'- TCCTGGGAGGATAAGTAGGC -3'

Sequencing Primer
(F):5'- CAGTTTGGGCATCATTGTCATAC -3'
(R):5'- GTAGGCAACATTCTCGCACTG -3'
Posted On 2022-07-18