Incidental Mutation 'R6334:Atp23'
ID510713
Institutional Source Beutler Lab
Gene Symbol Atp23
Ensembl Gene ENSMUSG00000025436
Gene NameATP23 metallopeptidase and ATP synthase assembly factor homolog
SynonymsXrcc6bp1, 1110068E08Rik, 2410012H02Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.370) question?
Stock #R6334 (G1)
Quality Score225.009
Status Validated
Chromosome10
Chromosomal Location126868427-126901355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 126887669 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Arginine at position 188 (L188R)
Ref Sequence ENSEMBL: ENSMUSP00000128382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026504] [ENSMUST00000168520]
Predicted Effect probably benign
Transcript: ENSMUST00000026504
SMART Domains Protein: ENSMUSP00000026504
Gene: ENSMUSG00000025436

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Peptidase_M76 49 197 1.3e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168520
AA Change: L188R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128382
Gene: ENSMUSG00000025436
AA Change: L188R

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Peptidase_M76 50 220 4.8e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220051
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is amplified in glioblastomas and interacts with the DNA binding subunit of DNA-dependent protein kinase. This kinase is involved in double-strand break repair (DSB), and higher expression of the encoded protein increases the efficiency of DSB. In addition, comparison to orthologous proteins strongly suggests that this protein is a metalloprotease important in the biosynthesis of mitochondrial ATPase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik T A 11: 58,880,114 S141T probably benign Het
Afap1l2 A G 19: 56,917,976 probably null Het
Aox2 C T 1: 58,307,407 Q567* probably null Het
Aqp4 T A 18: 15,393,591 M278L probably benign Het
B230359F08Rik A G 14: 53,795,942 T103A probably damaging Het
Catsperg1 C T 7: 29,206,357 G215D probably benign Het
Cavin4 T C 4: 48,663,824 V68A possibly damaging Het
Ccl4 T C 11: 83,662,678 S6P unknown Het
Cfap46 T C 7: 139,680,831 E117G probably damaging Het
Chek1 A G 9: 36,714,492 S286P possibly damaging Het
Cntn4 G A 6: 106,344,786 V35I probably benign Het
Cntn4 C A 6: 106,506,192 P236Q probably benign Het
Cyp2d40 C A 15: 82,761,552 G84V probably benign Het
Dnah12 A T 14: 26,706,834 H205L possibly damaging Het
Dock1 G A 7: 134,851,576 V845I probably benign Het
Drg1 T C 11: 3,266,292 K7E possibly damaging Het
Eloa G A 4: 136,009,822 P488S probably damaging Het
Evi5 G A 5: 107,820,521 R187* probably null Het
Fam53a T A 5: 33,600,875 L301F probably damaging Het
Fmnl3 T C 15: 99,337,653 K63E probably damaging Het
Gast C A 11: 100,336,612 Q44K probably benign Het
Gm4788 A G 1: 139,773,924 probably null Het
Gng10 T A 4: 59,035,257 V7E probably benign Het
Gtf3c5 G A 2: 28,570,462 T375I probably benign Het
Haus5 C T 7: 30,658,976 W298* probably null Het
Hspa14 A T 2: 3,489,072 probably null Het
Kcna3 T C 3: 107,036,424 M1T probably null Het
Kcnj15 T G 16: 95,296,236 L239R probably damaging Het
Klhl2 G T 8: 64,759,808 D232E probably benign Het
Lamb3 A T 1: 193,335,474 I888F probably damaging Het
Lars C A 18: 42,217,486 M919I probably benign Het
Lfng T C 5: 140,612,767 V247A possibly damaging Het
Lrp1b C T 2: 41,789,033 A16T probably benign Het
Mamdc2 A T 19: 23,363,906 I235N probably damaging Het
Map9 T A 3: 82,383,305 L492Q probably damaging Het
Mcpt8 A G 14: 56,085,147 V14A possibly damaging Het
Myo1b T C 1: 51,768,651 K823R probably null Het
Nbea G T 3: 56,037,149 T598K probably damaging Het
Nrcam C A 12: 44,572,300 H877N probably benign Het
Nrxn2 T C 19: 6,531,292 probably null Het
Nwd2 A T 5: 63,800,253 I309F possibly damaging Het
Phyhd1 G A 2: 30,274,724 probably null Het
Pkp2 C T 16: 16,226,069 T229I probably damaging Het
Plagl2 G A 2: 153,232,691 P97S probably benign Het
Plekhh2 C A 17: 84,566,866 N526K probably benign Het
Plin4 A G 17: 56,103,261 L1217P probably benign Het
Polr3e T C 7: 120,927,999 S67P possibly damaging Het
Postn A G 3: 54,385,282 K757E probably benign Het
Prpf39 T A 12: 65,042,813 probably null Het
Ptprg C T 14: 12,166,832 T745I probably damaging Het
Pxylp1 C G 9: 96,825,254 A292P probably damaging Het
Rpl35 G T 2: 39,001,742 D82E possibly damaging Het
Slc9a1 G A 4: 133,422,208 V782I possibly damaging Het
Syn2 T A 6: 115,263,914 M415K possibly damaging Het
Tmem117 A C 15: 95,011,443 I246L probably benign Het
Tmem221 A T 8: 71,558,784 V9E probably damaging Het
Ubxn7 T A 16: 32,372,189 probably null Het
Vmn2r101 G T 17: 19,589,850 M299I possibly damaging Het
Vmn2r103 T A 17: 19,794,082 S379T probably damaging Het
Vmn2r109 T C 17: 20,541,178 N639S probably benign Het
Wdr26 T C 1: 181,203,206 Het
Zfp109 T A 7: 24,228,883 Y367F probably damaging Het
Zfp143 G A 7: 110,086,131 C389Y probably damaging Het
Zfp553 G T 7: 127,236,892 probably null Het
Other mutations in Atp23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Atp23 APN 10 126901100 critical splice donor site probably null
IGL01832:Atp23 APN 10 126894345 missense probably damaging 1.00
IGL03097:Atp23 UTSW 10 126887687 missense probably damaging 1.00
R2099:Atp23 UTSW 10 126891726 splice site probably null
R5114:Atp23 UTSW 10 126887534 missense possibly damaging 0.92
R5505:Atp23 UTSW 10 126887630 missense probably damaging 0.99
R5652:Atp23 UTSW 10 126899625 missense possibly damaging 0.92
R5778:Atp23 UTSW 10 126899582 missense probably damaging 1.00
R6230:Atp23 UTSW 10 126887562 missense probably benign 0.13
R7537:Atp23 UTSW 10 126868725 missense unknown
Predicted Primers PCR Primer
(F):5'- ATGTTGGAGTAGTAGCGGTCCC -3'
(R):5'- GAGCAAACTGACATGTTCCATG -3'

Sequencing Primer
(F):5'- CCGGTTCTGAAAGTCCCTGTGAG -3'
(R):5'- GCAAACTGACATGTTCCATGGTTAG -3'
Posted On2018-04-02