Incidental Mutation 'R5505:Atp23'
ID 430891
Institutional Source Beutler Lab
Gene Symbol Atp23
Ensembl Gene ENSMUSG00000025436
Gene Name ATP23 metallopeptidase and ATP synthase assembly factor homolog
Synonyms Xrcc6bp1, 2410012H02Rik, 1110068E08Rik
MMRRC Submission 043066-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R5505 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 126704296-126737224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126723499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 201 (A201D)
Ref Sequence ENSEMBL: ENSMUSP00000128382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026504] [ENSMUST00000168520]
AlphaFold Q9CWQ3
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 damaging
Transcript: ENSMUST00000168520
AA Change: A201D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000128382
Gene: ENSMUSG00000025436
AA Change: A201D

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 0.7493 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.9%
Validation Efficiency 98% (47/48)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T A 5: 24,606,036 (GRCm39) D240E probably damaging Het
Alpk3 G A 7: 80,728,309 (GRCm39) E480K possibly damaging Het
Arhgap20 A G 9: 51,750,248 (GRCm39) E372G probably damaging Het
Bpifb1 A G 2: 154,046,699 (GRCm39) D73G probably benign Het
Ccdc7a A G 8: 129,706,655 (GRCm39) S325P possibly damaging Het
Cckar A G 5: 53,860,410 (GRCm39) Y140H probably damaging Het
Cd46 A T 1: 194,767,688 (GRCm39) D124E possibly damaging Het
Cep290 T C 10: 100,335,048 (GRCm39) probably null Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Eif2ak1 T C 5: 143,803,745 (GRCm39) S34P probably benign Het
Enah T A 1: 181,734,018 (GRCm39) probably benign Het
Gad2 C G 2: 22,514,845 (GRCm39) L108V probably benign Het
Gpr22 T C 12: 31,759,724 (GRCm39) I133V probably damaging Het
Hdac4 T C 1: 91,903,187 (GRCm39) T13A probably benign Het
Ighv1-4 A G 12: 114,451,057 (GRCm39) V17A possibly damaging Het
Ints8 T A 4: 11,221,143 (GRCm39) Q744L probably benign Het
Lrit3 C T 3: 129,585,087 (GRCm39) V224I possibly damaging Het
Mgat4a T C 1: 37,535,035 (GRCm39) I108V probably benign Het
Mmp9 T C 2: 164,795,528 (GRCm39) I682T probably benign Het
Myh7b G A 2: 155,474,592 (GRCm39) A1742T probably benign Het
Nlrp12 C T 7: 3,298,015 (GRCm39) G52D probably damaging Het
Or5t9 T C 2: 86,659,845 (GRCm39) F250L possibly damaging Het
Pcnx1 T C 12: 81,996,927 (GRCm39) L941P probably damaging Het
Pla2g4e T C 2: 120,075,256 (GRCm39) R45G probably benign Het
Plcz1 C G 6: 139,961,942 (GRCm39) G203A probably damaging Het
Poldip2 A G 11: 78,406,001 (GRCm39) T76A probably benign Het
Prdm15 T A 16: 97,618,183 (GRCm39) H325L possibly damaging Het
Ralyl A T 3: 13,841,980 (GRCm39) I39F probably damaging Het
Rnf220 A C 4: 117,153,288 (GRCm39) probably benign Het
Rnpc3 T C 3: 113,409,102 (GRCm39) K318E probably damaging Het
Rsbn1 T A 3: 103,836,259 (GRCm39) N432K probably damaging Het
Sh3yl1 T A 12: 30,992,072 (GRCm39) Y176N probably damaging Het
Slc25a30 G A 14: 76,000,789 (GRCm39) L272F probably damaging Het
Spag1 T C 15: 36,234,772 (GRCm39) V844A probably damaging Het
Srsf5 T C 12: 80,995,857 (GRCm39) probably benign Het
Tle2 T A 10: 81,417,574 (GRCm39) D223E probably benign Het
Tmem192 A G 8: 65,416,898 (GRCm39) E39G possibly damaging Het
Trpc6 T A 9: 8,626,736 (GRCm39) L362H probably damaging Het
Tuba4a A G 1: 75,193,060 (GRCm39) Y185H probably damaging Het
Uba6 A G 5: 86,268,405 (GRCm39) V941A probably benign Het
Vmn2r35 A T 7: 7,789,479 (GRCm39) Y753N probably damaging Het
Zfp941 C T 7: 140,391,830 (GRCm39) V510I probably benign Het
Other mutations in Atp23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Atp23 APN 10 126,736,969 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- ATGTTCCTCACGGTCCTGAC -3'
(R):5'- AAACTGACATGTTCCATGGTTAGAG -3'

Sequencing Primer
(F):5'- ACAGGCGGCTACCATCTTCATATG -3'
(R):5'- TCTGGTAGATGAGCCATCTCGC -3'
Posted On 2016-10-05