Incidental Mutation 'R2099:Atp23'
ID 233252
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 040103-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.182) question?
Stock # R2099 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 126704296-126737224 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 126727595 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: ENSMUST00000218775
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220051
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 G A 17: 45,817,820 (GRCm39) R14Q unknown Het
Aga C A 8: 53,974,166 (GRCm39) Y286* probably null Het
Anks1 T C 17: 28,197,465 (GRCm39) probably null Het
Arih2 A T 9: 108,493,937 (GRCm39) F159I probably damaging Het
Asxl1 A T 2: 153,194,187 (GRCm39) M46L possibly damaging Het
Carmil1 T A 13: 24,357,650 (GRCm39) L66F probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cramp1 A G 17: 25,192,059 (GRCm39) V1027A probably benign Het
Cx3cr1 G A 9: 119,881,339 (GRCm39) A21V probably benign Het
Dcxr A G 11: 120,616,403 (GRCm39) F221S probably damaging Het
Dio2 T C 12: 90,696,597 (GRCm39) *130W probably null Het
Dnah2 T C 11: 69,384,063 (GRCm39) D1051G probably damaging Het
Ehbp1l1 T C 19: 5,768,429 (GRCm39) E958G possibly damaging Het
Eif3a C A 19: 60,752,551 (GRCm39) probably benign Het
Ephb2 T C 4: 136,388,066 (GRCm39) D678G probably damaging Het
Fpr3 G T 17: 18,191,443 (GRCm39) R238L probably damaging Het
Frem3 A G 8: 81,342,488 (GRCm39) S1594G probably benign Het
Gbp4 A C 5: 105,268,947 (GRCm39) L402W probably damaging Het
Gdpd5 T A 7: 99,097,696 (GRCm39) L164Q probably damaging Het
Il4i1 T C 7: 44,487,616 (GRCm39) probably null Het
Kcp G T 6: 29,496,164 (GRCm39) C723* probably null Het
Klhl18 A G 9: 110,284,486 (GRCm39) F2L probably damaging Het
Lepr T A 4: 101,630,185 (GRCm39) D633E probably damaging Het
Lifr A G 15: 7,186,732 (GRCm39) I79V probably benign Het
Mcrs1 A G 15: 99,147,827 (GRCm39) S27P probably benign Het
Mmp3 A G 9: 7,453,672 (GRCm39) D431G probably benign Het
Mtor T A 4: 148,634,649 (GRCm39) Y2423* probably null Het
Ndc80 A T 17: 71,811,773 (GRCm39) D484E probably benign Het
Ndufb8 T A 19: 44,543,749 (GRCm39) probably benign Het
Nmur2 A T 11: 55,931,589 (GRCm39) S41T probably benign Het
Notch2 T C 3: 98,022,637 (GRCm39) C819R possibly damaging Het
Or10d3 A G 9: 39,461,963 (GRCm39) V68A probably benign Het
Or4f7 A G 2: 111,644,177 (GRCm39) I298T probably benign Het
Or6c35 A T 10: 129,169,152 (GRCm39) N134I probably damaging Het
Pheta1 C T 5: 121,991,349 (GRCm39) P237L possibly damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Samd7 T C 3: 30,810,709 (GRCm39) V242A probably benign Het
Sde2 T C 1: 180,693,713 (GRCm39) L401P probably damaging Het
Slc20a1 A G 2: 129,049,758 (GRCm39) D340G probably benign Het
Slc2a5 T A 4: 150,227,634 (GRCm39) Y484* probably null Het
Spata31d1a A G 13: 59,853,885 (GRCm39) L27P probably damaging Het
Sqstm1 T C 11: 50,093,811 (GRCm39) T269A possibly damaging Het
Syne2 T C 12: 76,026,747 (GRCm39) V3525A probably benign Het
Tctn1 G A 5: 122,380,772 (GRCm39) P512L probably damaging Het
Tlr1 A G 5: 65,082,411 (GRCm39) F722S probably damaging Het
Treh A G 9: 44,595,943 (GRCm39) Y376C probably damaging Het
Trim47 T C 11: 115,997,170 (GRCm39) N529S probably damaging Het
Trrap T C 5: 144,719,049 (GRCm39) V184A possibly damaging Het
Tyrp1 T A 4: 80,753,616 (GRCm39) N102K possibly damaging Het
Uspl1 T A 5: 149,151,568 (GRCm39) S724T probably damaging Het
Vmn2r2 C A 3: 64,024,474 (GRCm39) K702N probably damaging Het
Zfp267 C T 3: 36,218,361 (GRCm39) T128I possibly 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
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
Predicted Primers PCR Primer
(F):5'- TCTTCTCAGGCAGTCACATGG -3'
(R):5'- CTCCGGGTAAAGTTTAGAAAATCCC -3'

Sequencing Primer
(F):5'- TGGCTGACCATGACTATGAAGC -3'
(R):5'- CAGTGCCCTGATTTGTATAACACG -3'
Posted On 2014-09-18