Incidental Mutation 'R8351:Atp23'
ID 660496
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 067804-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R8351 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 126704296-126737224 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126723407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 232 (A232T)
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: A232T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128382
Gene: ENSMUSG00000025436
AA Change: A232T

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Peptidase_M76 50 220 4.8e-60 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (41/41)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agpat3 A T 10: 78,110,086 (GRCm39) Y288N probably damaging Het
Ano5 A G 7: 51,203,626 (GRCm39) K225E probably benign Het
Apob A G 12: 8,056,356 (GRCm39) T1613A probably benign Het
Ascc3 A G 10: 50,725,693 (GRCm39) T2139A probably benign Het
Asnsd1 A T 1: 53,386,172 (GRCm39) probably null Het
Cd8b1 G A 6: 71,306,777 (GRCm39) probably null Het
Cep295 G A 9: 15,234,202 (GRCm39) T2198I probably damaging Het
Col12a1 G T 9: 79,588,694 (GRCm39) N1140K probably damaging Het
Cyp2f2 A G 7: 26,821,294 (GRCm39) Y69C probably damaging Het
Ep400 C T 5: 110,887,200 (GRCm39) A628T probably damaging Het
Faxc A T 4: 21,932,046 (GRCm39) probably null Het
Fpr3 T C 17: 18,191,436 (GRCm39) S236P probably benign Het
Fsip2 T C 2: 82,822,239 (GRCm39) S5991P possibly damaging Het
Gm3099 A T 14: 15,345,347 (GRCm39) N58Y probably damaging Het
Gmps T C 3: 63,887,615 (GRCm39) V29A probably benign Het
Gnptab T G 10: 88,250,348 (GRCm39) D153E probably benign Het
Kcnh6 A G 11: 105,911,062 (GRCm39) H486R probably damaging Het
Lama3 T C 18: 12,673,670 (GRCm39) Y2571H probably damaging Het
Lama5 C T 2: 179,837,401 (GRCm39) V995M probably damaging Het
Lrrc43 A G 5: 123,632,328 (GRCm39) N157S probably damaging Het
Mbtps1 G A 8: 120,272,923 (GRCm39) S74L probably benign Het
Muc16 A T 9: 18,571,181 (GRCm39) V446D unknown Het
Ncapg2 T C 12: 116,403,647 (GRCm39) V853A possibly damaging Het
Nkx2-6 T C 14: 69,409,476 (GRCm39) S76P probably benign Het
Nuak1 T C 10: 84,229,981 (GRCm39) I131V probably damaging Het
Nup50l A C 6: 96,142,655 (GRCm39) S130A probably benign Het
Oas1e A T 5: 120,925,008 (GRCm39) probably null Het
Or1n2 T C 2: 36,797,149 (GRCm39) F64L probably benign Het
Pde5a T C 3: 122,542,128 (GRCm39) probably null Het
Plin4 T C 17: 56,413,861 (GRCm39) T255A probably benign Het
Pygm A G 19: 6,438,117 (GRCm39) T141A possibly damaging Het
Rps2 T A 17: 24,939,334 (GRCm39) probably benign Het
Rptor A G 11: 119,783,465 (GRCm39) D1153G probably benign Het
Ryr2 A G 13: 11,814,718 (GRCm39) F685L probably damaging Het
Slc22a17 A G 14: 55,146,051 (GRCm39) I356T probably benign Het
Slc29a4 T G 5: 142,703,584 (GRCm39) I286S probably benign Het
Swap70 T C 7: 109,821,105 (GRCm39) S30P possibly damaging Het
Tbc1d10c A G 19: 4,234,744 (GRCm39) F439S probably damaging Het
Tbx3 T A 5: 119,818,841 (GRCm39) L472Q probably damaging Het
Tbxas1 A G 6: 39,004,850 (GRCm39) R366G possibly damaging Het
Ttll8 T C 15: 88,798,638 (GRCm39) D699G probably benign Het
Vmn1r128 A T 7: 21,083,597 (GRCm39) R100S probably damaging Het
Wdpcp A G 11: 21,698,931 (GRCm39) D570G probably damaging Het
Znfx1 A G 2: 166,897,575 (GRCm39) S450P probably damaging 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
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
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'- TCTGAAGATTCCATTTCTGCACTGC -3'
(R):5'- TTCTCCGTAGACTTGCGTGC -3'

Sequencing Primer
(F):5'- GCACTGCAGTTTAAGGAGTTCC -3'
(R):5'- TAGACTTGCGTGCGGGACAG -3'
Posted On 2021-01-18