Incidental Mutation 'R7537:Atp23'
ID 583669
Institutional Source Beutler Lab
Gene Symbol Atp23
Ensembl Gene ENSMUSG00000025436
Gene Name ATP23 metallopeptidase and ATP synthase assembly factor homolog
Synonyms Xrcc6bp1, 1110068E08Rik, 2410012H02Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R7537 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 126868427-126901355 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126868725 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 180 (I180L)
Ref Sequence ENSEMBL: ENSMUSP00000026504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026504]
AlphaFold Q9CWQ3
Predicted Effect unknown
Transcript: ENSMUST00000026504
AA Change: I180L
SMART Domains Protein: ENSMUSP00000026504
Gene: ENSMUSG00000025436
AA Change: I180L

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Peptidase_M76 49 197 1.3e-47 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (63/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 122,173,988 L2229P possibly damaging Het
Acaca T A 11: 84,260,634 M786K probably damaging Het
Acta2 G A 19: 34,252,531 T8I probably benign Het
Adap1 T G 5: 139,293,173 E117D possibly damaging Het
Ap5z1 T C 5: 142,477,298 S746P probably benign Het
Appl2 A G 10: 83,617,428 I208T possibly damaging Het
Astn1 G A 1: 158,667,638 probably null Het
Astn1 A G 1: 158,505,386 E346G possibly damaging Het
Bean1 CT C 8: 104,182,032 probably null Het
Cdh23 A T 10: 60,384,945 I1340N probably benign Het
Cdh8 G A 8: 99,098,885 Q493* probably null Het
Ces1g T C 8: 93,319,827 I357V probably benign Het
Ddx46 A G 13: 55,650,478 D226G probably damaging Het
Eea1 C T 10: 95,994,905 Q143* probably null Het
Erlin2 G T 8: 27,031,772 probably null Het
Fat3 T A 9: 15,938,319 D3929V probably damaging Het
Flt3 T C 5: 147,334,437 D898G probably damaging Het
Gm16519 A G 17: 70,929,356 N100S probably benign Het
Gnl1 A G 17: 35,988,536 H533R probably damaging Het
Gphn A G 12: 78,504,680 T301A possibly damaging Het
Herc2 C T 7: 56,219,779 R4295* probably null Het
Insm2 T C 12: 55,599,518 S16P possibly damaging Het
Jak2 C T 19: 29,298,637 T778I probably benign Het
Lrriq3 A G 3: 155,101,097 T128A probably damaging Het
Lst1 A G 17: 35,186,944 probably null Het
Magi1 G T 6: 93,708,110 Y762* probably null Het
Man2b1 T A 8: 85,090,965 C358* probably null Het
Mga T C 2: 119,935,551 V1432A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Morc2a C T 11: 3,683,566 Q587* probably null Het
Mrc2 T C 11: 105,292,797 I4T probably benign Het
Muc16 C A 9: 18,638,135 V5621F probably benign Het
Myl10 G C 5: 136,697,971 V70L probably benign Het
Myo3b A G 2: 70,217,169 R340G probably benign Het
Nipal3 T C 4: 135,490,937 Y34C probably damaging Het
Nktr T A 9: 121,749,279 D804E unknown Het
Nlrp4b A G 7: 10,714,889 M340V probably benign Het
Olfr1039 A G 2: 86,131,264 V133A probably benign Het
Olfr385 T A 11: 73,589,268 T157S probably benign Het
Olfr680-ps1 A T 7: 105,092,771 M16K probably benign Het
Olfr701 G A 7: 106,818,374 C97Y probably damaging Het
Pard3 T A 8: 127,610,582 N1271K probably damaging Het
Pcdhb11 A T 18: 37,421,619 M1L possibly damaging Het
Pclo T C 5: 14,682,104 V3540A unknown Het
Pemt A G 11: 59,976,844 F154S probably damaging Het
Ptpn18 G A 1: 34,473,364 D417N possibly damaging Het
Rnpc3 G T 3: 113,613,832 T376K probably benign Het
Rpe65 A G 3: 159,604,609 Y143C probably damaging Het
Sbk2 T C 7: 4,963,149 E12G probably benign Het
Slc2a5 T C 4: 150,129,069 I106T possibly damaging Het
Snx13 A G 12: 35,085,982 D92G probably damaging Het
Sorl1 C T 9: 41,980,688 V1889I probably benign Het
Spag17 A T 3: 99,939,247 N29I possibly damaging Het
Speg T C 1: 75,401,464 V878A probably damaging Het
Timp4 A G 6: 115,250,460 S53P probably damaging Het
Tssk1 G T 16: 17,895,084 E244D probably benign Het
Usp29 A C 7: 6,961,220 T21P possibly damaging Het
Vmn2r85 A T 10: 130,422,866 V440E probably benign Het
Wdr59 T C 8: 111,490,369 D270G Het
Zbbx G A 3: 75,085,519 P223S probably damaging Het
Zfp936 T A 7: 43,189,815 C235* probably null Het
Zranb3 A T 1: 128,032,847 probably null Het
Other mutations in Atp23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00792:Atp23 APN 10 126901100 critical splice donor site probably null
IGL01832:Atp23 APN 10 126894345 missense probably damaging 1.00
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
R8253:Atp23 UTSW 10 126868674 missense probably benign 0.43
R8351:Atp23 UTSW 10 126887538 missense probably damaging 1.00
R8927:Atp23 UTSW 10 126887493 makesense probably null
R8928:Atp23 UTSW 10 126887493 makesense probably null
R9773:Atp23 UTSW 10 126898894 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TCAAATATAGTCAGACACCAAAGTCA -3'
(R):5'- AGAGTGGTGAGAGTCGAGTT -3'

Sequencing Primer
(F):5'- TCATAACAGTCAGACCATGATGG -3'
(R):5'- CTGCAATGATCCCTGAAGCTTAGG -3'
Posted On 2019-10-17