Incidental Mutation 'R0332:Xrra1'
ID35920
Institutional Source Beutler Lab
Gene Symbol Xrra1
Ensembl Gene ENSMUSG00000035211
Gene NameX-ray radiation resistance associated 1
Synonyms
MMRRC Submission 038541-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.144) question?
Stock #R0332 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location99859116-99917822 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99876242 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 123 (F123L)
Ref Sequence ENSEMBL: ENSMUSP00000147177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036155] [ENSMUST00000207855] [ENSMUST00000208354]
Predicted Effect probably damaging
Transcript: ENSMUST00000036155
AA Change: F123L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
AA Change: F123L

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: ENSMUST00000207760
Predicted Effect probably damaging
Transcript: ENSMUST00000207855
AA Change: F123L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208321
Predicted Effect probably benign
Transcript: ENSMUST00000208354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208548
Meta Mutation Damage Score 0.456 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.6%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1520401A03Rik A T 17: 23,714,604 probably benign Het
Aggf1 T C 13: 95,369,446 E211G probably damaging Het
Aox3 A G 1: 58,142,751 N299S probably benign Het
Arhgef7 T A 8: 11,824,701 Y777* probably null Het
Atad1 A G 19: 32,702,534 probably benign Het
Bop1 A G 15: 76,455,987 Y130H probably damaging Het
Ccar2 G T 14: 70,141,935 probably benign Het
Ccdc110 G T 8: 45,942,964 E631* probably null Het
Cfap54 C T 10: 93,035,457 D634N probably damaging Het
Cldn8 C T 16: 88,562,358 silent Het
Cstf3 G T 2: 104,646,467 probably null Het
Dgkq T C 5: 108,655,099 probably benign Het
Dsp T A 13: 38,182,228 L546* probably null Het
Eif3g A T 9: 20,897,984 probably benign Het
Fam228a T A 12: 4,735,018 I38F probably damaging Het
Fto A T 8: 91,401,890 probably benign Het
Gcnt4 G T 13: 96,946,510 V105L probably benign Het
Gm10644 A G 8: 83,933,581 L45S possibly damaging Het
Gm7275 A T 16: 48,073,769 noncoding transcript Het
Gm7579 T C 7: 142,212,375 S173P unknown Het
Gpatch8 T C 11: 102,481,842 N290S unknown Het
Hspb8 T A 5: 116,409,473 D150V probably damaging Het
Ifitm1 T C 7: 140,968,453 probably benign Het
Ifnl2 T C 7: 28,509,331 T99A possibly damaging Het
Ints4 T C 7: 97,517,718 L577P probably damaging Het
Jph4 T C 14: 55,114,010 E183G possibly damaging Het
Loxhd1 T A 18: 77,383,830 probably null Het
Mug1 G A 6: 121,849,897 probably null Het
Nlrp2 C A 7: 5,317,630 C836F probably damaging Het
Nup210l G T 3: 90,132,309 probably benign Het
Olfr18 A G 9: 20,314,056 L288S probably benign Het
Olfr555 A T 7: 102,659,465 I215F probably damaging Het
Optn C T 2: 5,024,115 G526R probably damaging Het
Phykpl A G 11: 51,586,675 E98G probably benign Het
Pikfyve A G 1: 65,264,399 N1648D probably benign Het
Plppr5 A T 3: 117,671,932 R277S probably benign Het
Ppp1r36 T A 12: 76,427,903 F86L probably benign Het
Pqlc2 C T 4: 139,300,299 S244N possibly damaging Het
Ptgis A T 2: 167,214,833 L278Q probably damaging Het
Rasa2 A T 9: 96,606,176 F90Y probably damaging Het
Setd3 T C 12: 108,107,579 K480E probably benign Het
Snx2 T C 18: 53,212,911 F389L probably benign Het
Sulf2 G A 2: 166,089,199 T296M probably benign Het
Supt16 A T 14: 52,181,157 H214Q probably damaging Het
Tbx4 A T 11: 85,898,530 M12L probably benign Het
Tlk1 A T 2: 70,745,565 probably null Het
Tmprss7 C T 16: 45,680,638 V267M probably benign Het
Tmub2 G A 11: 102,288,348 R291H probably damaging Het
Trpm2 A T 10: 77,947,988 V217E probably damaging Het
Try10 T A 6: 41,354,220 V10E probably benign Het
Ttn A G 2: 76,765,882 V20229A probably benign Het
Ttn A C 2: 76,778,194 probably null Het
Uhrf1bp1 T C 17: 27,893,294 probably null Het
Usf2 T A 7: 30,955,179 M199L possibly damaging Het
Usp37 A T 1: 74,495,710 S26T possibly damaging Het
Vrk1 G C 12: 106,058,625 Q253H probably benign Het
Wdr72 A T 9: 74,157,252 probably null Het
Zfhx3 T C 8: 108,946,623 I1435T probably damaging Het
Zfp712 T A 13: 67,040,813 H550L probably damaging Het
Other mutations in Xrra1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01782:Xrra1 APN 7 99875194 missense possibly damaging 0.76
IGL01938:Xrra1 APN 7 99879469 critical splice donor site probably null
IGL02064:Xrra1 APN 7 99914204 missense probably damaging 1.00
IGL02286:Xrra1 APN 7 99914227 missense possibly damaging 0.62
IGL02415:Xrra1 APN 7 99915943 missense probably benign
R0465:Xrra1 UTSW 7 99879371 missense probably benign 0.00
R0533:Xrra1 UTSW 7 99875145 splice site probably null
R0601:Xrra1 UTSW 7 99910968 missense possibly damaging 0.95
R1539:Xrra1 UTSW 7 99871357 missense probably damaging 1.00
R1672:Xrra1 UTSW 7 99898440 missense probably benign 0.00
R1687:Xrra1 UTSW 7 99876244 missense probably damaging 1.00
R1962:Xrra1 UTSW 7 99911020 missense probably damaging 1.00
R2504:Xrra1 UTSW 7 99897596 missense probably damaging 1.00
R4765:Xrra1 UTSW 7 99906568 missense probably benign 0.19
R4967:Xrra1 UTSW 7 99906523 missense probably damaging 0.99
R5213:Xrra1 UTSW 7 99898483 missense possibly damaging 0.47
R5663:Xrra1 UTSW 7 99886043 missense probably damaging 1.00
R5986:Xrra1 UTSW 7 99876255 missense probably benign 0.40
R6256:Xrra1 UTSW 7 99914464 missense probably damaging 0.99
R6269:Xrra1 UTSW 7 99917472 missense probably damaging 1.00
X0017:Xrra1 UTSW 7 99916100 missense probably damaging 1.00
X0021:Xrra1 UTSW 7 99898486 missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- AGGTCTTTAAAACTGGGTCACGGTG -3'
(R):5'- TCTCCAGAGCCATGAGAGTCCAAC -3'

Sequencing Primer
(F):5'- CTTCAAAGTATCACTCAGCGTG -3'
(R):5'- CCTcagatggacagacagacag -3'
Posted On2013-05-09