Incidental Mutation 'R4564:Atad3a'
ID 343235
Institutional Source Beutler Lab
Gene Symbol Atad3a
Ensembl Gene ENSMUSG00000029036
Gene Name ATPase family, AAA domain containing 3A
Synonyms Tob3, 2400004H09Rik
MMRRC Submission 041789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4564 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155825098-155845550 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 155831766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030903] [ENSMUST00000030903] [ENSMUST00000184913]
AlphaFold Q925I1
Predicted Effect probably null
Transcript: ENSMUST00000030903
SMART Domains Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036

DomainStartEndE-ValueType
Pfam:DUF3523 26 285 9.5e-113 PFAM
AAA 343 482 4.43e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000030903
SMART Domains Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036

DomainStartEndE-ValueType
Pfam:DUF3523 26 285 9.5e-113 PFAM
AAA 343 482 4.43e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126725
Predicted Effect probably benign
Transcript: ENSMUST00000175679
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177066
Predicted Effect probably benign
Transcript: ENSMUST00000184131
Predicted Effect probably benign
Transcript: ENSMUST00000184913
SMART Domains Protein: ENSMUSP00000138808
Gene: ENSMUSG00000029036

DomainStartEndE-ValueType
Pfam:DUF3523 1 125 9.9e-43 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a gene trapped allele die around E7.5 exhibiting growth retardation, failure to gastrulate, and impaired development of the trophoblast lineage immediately after implantation. [provided by MGI curators]
Allele List at MGI

All alleles(8) : Targeted, other(2) Gene trapped(6)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bach2 T G 4: 32,563,338 (GRCm39) S602A probably damaging Het
Ccl19 G T 4: 42,756,295 (GRCm39) S12R probably damaging Het
Cfap54 T C 10: 92,675,402 (GRCm39) probably benign Het
Cndp1 T A 18: 84,640,411 (GRCm39) I265F probably damaging Het
Cnot3 G A 7: 3,656,257 (GRCm39) R181H probably damaging Het
Dicer1 T A 12: 104,671,010 (GRCm39) K1011* probably null Het
Dip2b G A 15: 100,055,139 (GRCm39) W99* probably null Het
Fpr-rs6 A T 17: 20,403,168 (GRCm39) Y64* probably null Het
Fubp1 C A 3: 151,928,573 (GRCm39) Y480* probably null Het
Gfra1 T C 19: 58,227,682 (GRCm39) probably null Het
Gm10770 T C 2: 150,020,831 (GRCm39) T229A probably benign Het
Gm826 A C 2: 160,153,913 (GRCm39) probably benign Het
Gpd2 G A 2: 57,197,095 (GRCm39) V217I possibly damaging Het
Hectd4 T C 5: 121,488,494 (GRCm39) I3595T probably benign Het
Lmln A G 16: 32,930,226 (GRCm39) E561G probably benign Het
Lrrc71 T A 3: 87,652,715 (GRCm39) probably benign Het
Man2a2 T A 7: 80,018,586 (GRCm39) Y91F probably benign Het
Map4k4 A G 1: 40,028,135 (GRCm39) T319A probably damaging Het
Mcm6 G T 1: 128,271,196 (GRCm39) H474Q probably damaging Het
Mn1 C G 5: 111,568,533 (GRCm39) N834K possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Niban3 T C 8: 72,057,704 (GRCm39) probably benign Het
Npas2 A G 1: 39,326,647 (GRCm39) D44G probably damaging Het
Npc1 C T 18: 12,324,789 (GRCm39) G1235R probably damaging Het
Olfml2a C T 2: 38,850,306 (GRCm39) T674I probably benign Het
Or4f58 A G 2: 111,852,112 (GRCm39) L29P possibly damaging Het
Pgap6 A G 17: 26,336,837 (GRCm39) R252G possibly damaging Het
Plxnb1 C T 9: 108,942,488 (GRCm39) A1779V probably benign Het
Ppil3 T A 1: 58,470,481 (GRCm39) D123V probably damaging Het
Prr23a3 A G 9: 98,747,190 (GRCm39) E48G probably damaging Het
Prr5l T C 2: 101,577,094 (GRCm39) E110G probably damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
R3hdm1 C T 1: 128,149,396 (GRCm39) T839M probably benign Het
Rasgrf2 G A 13: 92,033,773 (GRCm39) Q544* probably null Het
Riok3 C A 18: 12,281,936 (GRCm39) R302S probably damaging Het
Rnf145 A G 11: 44,439,635 (GRCm39) K144E probably benign Het
Sin3b A C 8: 73,480,209 (GRCm39) T904P probably damaging Het
Skint4 C T 4: 111,977,066 (GRCm39) T152M probably damaging Het
Slc22a2 A G 17: 12,828,943 (GRCm39) I350V probably benign Het
Slc6a11 G T 6: 114,108,323 (GRCm39) G29V probably benign Het
Speg A C 1: 75,368,478 (GRCm39) H676P probably damaging Het
St6gal2 T A 17: 55,789,648 (GRCm39) H227Q probably damaging Het
Strn3 A G 12: 51,680,404 (GRCm39) S399P probably benign Het
Tbc1d1 A G 5: 64,330,827 (GRCm39) E2G probably damaging Het
Tecpr2 T A 12: 110,921,219 (GRCm39) M1264K probably benign Het
Trpm6 T C 19: 18,809,961 (GRCm39) L1119P possibly damaging Het
Upf2 A C 2: 6,032,123 (GRCm39) T890P unknown Het
Upk1b T A 16: 38,600,469 (GRCm39) K170N probably benign Het
Vmn1r78 A T 7: 11,886,485 (GRCm39) Y32F probably damaging Het
Vps11 A G 9: 44,272,894 (GRCm39) F12S probably damaging Het
Zfp318 T A 17: 46,723,741 (GRCm39) C1915S possibly damaging Het
Zfp346 A C 13: 55,261,520 (GRCm39) R103S probably damaging Het
Other mutations in Atad3a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Atad3a APN 4 155,830,535 (GRCm39) missense probably damaging 0.98
IGL01982:Atad3a APN 4 155,838,384 (GRCm39) missense possibly damaging 0.94
IGL02059:Atad3a APN 4 155,839,207 (GRCm39) splice site probably benign
IGL02572:Atad3a APN 4 155,838,041 (GRCm39) missense possibly damaging 0.61
IGL03086:Atad3a APN 4 155,833,127 (GRCm39) critical splice donor site probably null
IGL03409:Atad3a APN 4 155,831,807 (GRCm39) missense probably damaging 0.99
E2594:Atad3a UTSW 4 155,835,390 (GRCm39) unclassified probably benign
FR4976:Atad3a UTSW 4 155,838,396 (GRCm39) missense probably damaging 0.98
PIT4618001:Atad3a UTSW 4 155,834,595 (GRCm39) missense probably benign 0.41
R0233:Atad3a UTSW 4 155,830,524 (GRCm39) missense probably damaging 0.99
R0233:Atad3a UTSW 4 155,830,524 (GRCm39) missense probably damaging 0.99
R0601:Atad3a UTSW 4 155,831,864 (GRCm39) missense probably damaging 1.00
R0799:Atad3a UTSW 4 155,831,927 (GRCm39) missense probably damaging 1.00
R1428:Atad3a UTSW 4 155,840,139 (GRCm39) missense probably damaging 1.00
R1597:Atad3a UTSW 4 155,835,892 (GRCm39) critical splice donor site probably null
R2188:Atad3a UTSW 4 155,835,976 (GRCm39) missense probably damaging 0.99
R4126:Atad3a UTSW 4 155,838,518 (GRCm39) splice site probably benign
R5334:Atad3a UTSW 4 155,840,146 (GRCm39) missense probably damaging 1.00
R6354:Atad3a UTSW 4 155,838,402 (GRCm39) missense possibly damaging 0.58
R6481:Atad3a UTSW 4 155,838,098 (GRCm39) splice site probably null
R7220:Atad3a UTSW 4 155,838,498 (GRCm39) missense probably benign 0.02
R7689:Atad3a UTSW 4 155,840,610 (GRCm39) missense probably damaging 0.98
R7949:Atad3a UTSW 4 155,833,152 (GRCm39) missense possibly damaging 0.53
R8127:Atad3a UTSW 4 155,838,396 (GRCm39) missense probably damaging 0.96
R8783:Atad3a UTSW 4 155,840,152 (GRCm39) missense probably damaging 1.00
R8956:Atad3a UTSW 4 155,838,054 (GRCm39) missense probably damaging 0.96
R9019:Atad3a UTSW 4 155,838,052 (GRCm39) missense possibly damaging 0.91
R9636:Atad3a UTSW 4 155,833,616 (GRCm39) missense possibly damaging 0.95
R9706:Atad3a UTSW 4 155,834,929 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTGACTCAGGCACTTAAGAGC -3'
(R):5'- CACTTTGTGGCTGCAGGTTC -3'

Sequencing Primer
(F):5'- ACTCAGGCACTTAAGAGCTGTTG -3'
(R):5'- CTGCAGGTTCATGCTGGTCC -3'
Posted On 2015-09-24