Incidental Mutation 'IGL00792:Atp23'
ID 14890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp23
Ensembl Gene ENSMUSG00000025436
Gene Name ATP23 metallopeptidase and ATP synthase assembly factor homolog
Synonyms Xrcc6bp1, 2410012H02Rik, 1110068E08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # IGL00792
Quality Score
Status
Chromosome 10
Chromosomal Location 126704296-126737224 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 126736969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026504] [ENSMUST00000168520]
AlphaFold Q9CWQ3
Predicted Effect probably null
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 null
Transcript: ENSMUST00000168520
SMART Domains Protein: ENSMUSP00000128382
Gene: ENSMUSG00000025436

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
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
Abcc1 A G 16: 14,228,790 (GRCm39) I346V probably benign Het
Actl7a A T 4: 56,743,944 (GRCm39) Y157F possibly damaging Het
Adcy9 A G 16: 4,106,403 (GRCm39) F904L probably damaging Het
Ap1m1 A G 8: 73,009,599 (GRCm39) D369G possibly damaging Het
Atp5pd A G 11: 115,308,675 (GRCm39) probably null Het
Btf3l4 G A 4: 108,674,056 (GRCm39) S153L probably benign Het
Carf G T 1: 60,165,168 (GRCm39) V117L possibly damaging Het
Cntnap1 C A 11: 101,069,792 (GRCm39) N290K probably benign Het
Dgkb G A 12: 38,264,388 (GRCm39) probably null Het
Dmbt1 T A 7: 130,699,337 (GRCm39) C989S possibly damaging Het
Epb41l1 C T 2: 156,366,939 (GRCm39) R591C probably damaging Het
Fam219a A G 4: 41,521,684 (GRCm39) V74A probably benign Het
Frrs1 T A 3: 116,678,944 (GRCm39) probably null Het
Gm13547 A T 2: 29,653,417 (GRCm39) D85V probably damaging Het
Hipk1 G T 3: 103,685,476 (GRCm39) S46R possibly damaging Het
Ifih1 T A 2: 62,476,214 (GRCm39) R21W probably damaging Het
Ift43 A T 12: 86,186,840 (GRCm39) Q87L probably null Het
Itprid2 C T 2: 79,487,807 (GRCm39) A630V probably benign Het
Kcnn1 G A 8: 71,307,360 (GRCm39) L178F probably benign Het
Kel G T 6: 41,678,946 (GRCm39) N172K probably damaging Het
Krtap3-2 A T 11: 99,447,372 (GRCm39) Y85* probably null Het
Lrrc49 A G 9: 60,595,121 (GRCm39) S8P probably damaging Het
Med23 T C 10: 24,752,902 (GRCm39) I20T possibly damaging Het
Pde4d A G 13: 110,071,929 (GRCm39) K364E possibly damaging Het
Ppp2r3d T C 9: 101,088,500 (GRCm39) K608E possibly damaging Het
Robo4 C T 9: 37,319,507 (GRCm39) L586F probably damaging Het
Rprd2 A G 3: 95,692,416 (GRCm39) S191P probably benign Het
Samhd1 A T 2: 156,962,468 (GRCm39) H242Q probably damaging Het
Slc30a9 T A 5: 67,499,452 (GRCm39) N283K probably damaging Het
Slc4a9 T C 18: 36,672,649 (GRCm39) probably benign Het
Stk36 G T 1: 74,650,276 (GRCm39) L269F probably benign Het
Thop1 T A 10: 80,914,433 (GRCm39) L240* probably null Het
Tmem52b T A 6: 129,493,704 (GRCm39) S106T probably damaging Het
Ttn T A 2: 76,555,970 (GRCm39) D30345V probably damaging Het
Vtcn1 T C 3: 100,795,663 (GRCm39) V210A probably damaging Het
Zfp568 A G 7: 29,714,497 (GRCm39) R124G probably benign Het
Other mutations in Atp23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Atp23 APN 10 126,730,214 (GRCm39) missense probably damaging 1.00
IGL03097:Atp23 UTSW 10 126,723,556 (GRCm39) missense probably damaging 1.00
R2099:Atp23 UTSW 10 126,727,595 (GRCm39) splice site probably null
R5114:Atp23 UTSW 10 126,723,403 (GRCm39) missense possibly damaging 0.92
R5505:Atp23 UTSW 10 126,723,499 (GRCm39) missense probably damaging 0.99
R5652:Atp23 UTSW 10 126,735,494 (GRCm39) missense possibly damaging 0.92
R5778:Atp23 UTSW 10 126,735,451 (GRCm39) missense probably damaging 1.00
R6230:Atp23 UTSW 10 126,723,431 (GRCm39) missense probably benign 0.13
R6334:Atp23 UTSW 10 126,723,538 (GRCm39) missense probably benign 0.00
R7537:Atp23 UTSW 10 126,704,594 (GRCm39) missense unknown
R8253:Atp23 UTSW 10 126,704,543 (GRCm39) missense probably benign 0.43
R8351:Atp23 UTSW 10 126,723,407 (GRCm39) missense probably damaging 1.00
R8927:Atp23 UTSW 10 126,723,362 (GRCm39) makesense probably null
R8928:Atp23 UTSW 10 126,723,362 (GRCm39) makesense probably null
R9773:Atp23 UTSW 10 126,734,763 (GRCm39) missense possibly damaging 0.94
Posted On 2012-12-06