Incidental Mutation 'IGL01832:Atp23'
ID154799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp23
Ensembl Gene ENSMUSG00000025436
Gene NameATP23 metallopeptidase and ATP synthase assembly factor homolog
SynonymsXrcc6bp1, 1110068E08Rik, 2410012H02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.345) question?
Stock #IGL01832
Quality Score
Status
Chromosome10
Chromosomal Location126868427-126901355 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 126894345 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 111 (N111K)
Ref Sequence ENSEMBL: ENSMUSP00000128382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026504] [ENSMUST00000168520]
Predicted Effect probably damaging
Transcript: ENSMUST00000026504
AA Change: N111K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026504
Gene: ENSMUSG00000025436
AA Change: N111K

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Peptidase_M76 49 197 1.3e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168520
AA Change: N111K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128382
Gene: ENSMUSG00000025436
AA Change: N111K

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Peptidase_M76 50 220 4.8e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220051
Coding Region Coverage
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Ctps2 G T X: 162,936,703 probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Atp23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Atp23 APN 10 126901100 critical splice donor site probably null
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
R6334:Atp23 UTSW 10 126887669 missense probably benign 0.00
R7537:Atp23 UTSW 10 126868725 missense unknown
Posted On2014-02-04