Incidental Mutation 'R1655:Paxx'
ID 188997
Institutional Source Beutler Lab
Gene Symbol Paxx
Ensembl Gene ENSMUSG00000047617
Gene Name non-homologous end joining factor
Synonyms D930050G13Rik, paralog of XRCC4 and XLF, BC029214
MMRRC Submission 039691-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock # R1655 (G1)
Quality Score 193
Status Not validated
Chromosome 2
Chromosomal Location 25455141-25461094 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25460316 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 93 (E93G)
Ref Sequence ENSEMBL: ENSMUSP00000120533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102918] [ENSMUST00000114261] [ENSMUST00000114265] [ENSMUST00000151239]
AlphaFold Q8K0Y7
Predicted Effect probably benign
Transcript: ENSMUST00000102918
SMART Domains Protein: ENSMUSP00000099982
Gene: ENSMUSG00000015093

Pfam:GST_N_3 17 89 9.8e-11 PFAM
Pfam:GST_N_2 20 84 1.6e-8 PFAM
Pfam:GST_C_2 77 207 6.3e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114261
AA Change: E93G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109899
Gene: ENSMUSG00000047617
AA Change: E93G

Pfam:PAXX 10 205 5.7e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114265
SMART Domains Protein: ENSMUSP00000109904
Gene: ENSMUSG00000015093

Pfam:GST_N_3 19 91 2e-11 PFAM
Pfam:GST_N_2 22 86 3.6e-9 PFAM
Pfam:GST_C_2 80 209 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132561
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133919
Predicted Effect probably damaging
Transcript: ENSMUST00000151239
AA Change: E93G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120533
Gene: ENSMUSG00000047617
AA Change: E93G

Pfam:DUF4610 8 156 2.2e-64 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135915
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143862
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, developmentally normal and fertile but show increased mortality induced by ionizing radiation and a mild reduction in splenic lymphocyte numbers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833427G06Rik A T 9: 51,083,621 I136N probably damaging Het
9530053A07Rik A T 7: 28,147,110 N1076Y probably damaging Het
A730061H03Rik A T 14: 55,560,333 probably benign Het
Abca1 C T 4: 53,050,964 A1582T probably benign Het
Acot8 A T 2: 164,803,108 S52T probably benign Het
Atcay C T 10: 81,213,397 V124M probably damaging Het
Cep295 C T 9: 15,340,883 E397K probably damaging Het
Cfap46 A T 7: 139,642,520 Y1180* probably null Het
Clptm1 T A 7: 19,645,867 H148L probably benign Het
Clstn3 A G 6: 124,437,427 L743P probably damaging Het
Crtc3 A T 7: 80,598,776 M313K possibly damaging Het
Csgalnact1 T A 8: 68,373,689 I326F possibly damaging Het
Dennd6b G T 15: 89,196,340 T19K unknown Het
Disp1 A T 1: 183,087,004 I1284N probably benign Het
Dnah2 A G 11: 69,473,854 Y1992H probably damaging Het
Dnah6 C T 6: 73,205,732 V205I possibly damaging Het
Dst G T 1: 34,282,576 G4391* probably null Het
Dytn A G 1: 63,661,198 S258P probably damaging Het
Emilin3 T A 2: 160,910,866 probably null Het
Ermn C T 2: 58,052,584 V45I probably benign Het
Fat4 T C 3: 38,957,318 V2189A probably damaging Het
Filip1l T C 16: 57,571,851 I934T probably damaging Het
Gbp9 T A 5: 105,081,692 Q472L possibly damaging Het
Gimap5 G T 6: 48,753,176 E227* probably null Het
Gsdmc C T 15: 63,780,043 V240M probably benign Het
H2-Q4 G T 17: 35,382,905 V248F probably damaging Het
Helz2 T C 2: 181,234,147 E1518G probably damaging Het
Hmcn1 A G 1: 150,630,333 V3814A probably benign Het
Ifna7 A G 4: 88,816,660 T145A probably benign Het
Itgam T A 7: 128,115,163 M947K probably benign Het
Itpr2 T G 6: 146,376,148 N608H probably damaging Het
Klra2 T A 6: 131,220,211 N242I probably damaging Het
Lonrf2 A T 1: 38,811,824 L219Q probably damaging Het
Ly6c2 T C 15: 75,108,563 I126V probably benign Het
Mr1 G A 1: 155,132,455 T258M probably benign Het
Mrps35 T G 6: 147,060,228 D200E possibly damaging Het
Nbeal2 A C 9: 110,632,872 S1506A probably damaging Het
Ncoa7 T C 10: 30,698,245 probably null Het
Nlrp4a A T 7: 26,449,651 I228F possibly damaging Het
Olfr1047 A G 2: 86,228,080 V297A possibly damaging Het
Olfr1339 A G 4: 118,734,999 S157G probably benign Het
Olfr368 A G 2: 37,331,939 Y64C probably damaging Het
Olfr483 A T 7: 108,103,464 I52F probably damaging Het
Per2 C A 1: 91,448,768 G128W probably damaging Het
Piezo1 A G 8: 122,496,822 I796T probably benign Het
Pkhd1 A G 1: 20,584,129 S235P probably damaging Het
Pole T A 5: 110,335,922 F259Y probably damaging Het
Pus7 T A 5: 23,747,800 K512* probably null Het
Ralyl A T 3: 14,107,236 Y55F probably damaging Het
Rgs14 T A 13: 55,383,534 M451K probably benign Het
Rhag T C 17: 40,831,596 F231L probably damaging Het
Ric8a T C 7: 140,860,895 C94R probably benign Het
Rictor T A 15: 6,772,212 D460E probably benign Het
Rpn1 T C 6: 88,100,944 V454A possibly damaging Het
Sacs A G 14: 61,191,782 D427G probably benign Het
Scai A T 2: 39,080,117 V545D possibly damaging Het
Serpinb3a A G 1: 107,046,212 V323A probably damaging Het
Slc13a5 C A 11: 72,257,378 C277F probably benign Het
Slc15a1 A T 14: 121,465,899 Y557N probably benign Het
Slc34a2 T C 5: 53,069,419 V628A probably benign Het
Slc8a2 G T 7: 16,141,135 G436V probably damaging Het
Sphkap G A 1: 83,277,515 R838* probably null Het
Supt5 T C 7: 28,330,024 I103V probably benign Het
Tdrd1 T A 19: 56,843,216 Y346* probably null Het
Tg T G 15: 66,828,568 probably null Het
Top1 T A 2: 160,703,696 probably null Het
Trmt12 T C 15: 58,873,227 L158P probably damaging Het
Tssk4 A G 14: 55,651,695 N226S probably damaging Het
Unc80 G T 1: 66,672,756 V2746F possibly damaging Het
Usp34 T A 11: 23,375,051 V999E probably benign Het
Virma T C 4: 11,494,786 V29A probably damaging Het
Zfp40 A T 17: 23,177,266 Y48N probably benign Het
Zfp609 A G 9: 65,703,554 V709A possibly damaging Het
Other mutations in Paxx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01722:Paxx APN 2 25460265 missense probably damaging 0.99
IGL02187:Paxx APN 2 25460656 missense probably damaging 1.00
IGL02480:Paxx APN 2 25460012 missense probably damaging 1.00
IGL02563:Paxx APN 2 25459662 makesense probably null
IGL03060:Paxx APN 2 25460184 missense probably damaging 1.00
R0357:Paxx UTSW 2 25460067 missense probably damaging 0.98
R1968:Paxx UTSW 2 25460628 intron probably benign
R7166:Paxx UTSW 2 25460226 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09