Incidental Mutation 'R0799:Atad3a'
ID 76520
Institutional Source Beutler Lab
Gene Symbol Atad3a
Ensembl Gene ENSMUSG00000029036
Gene Name ATPase family, AAA domain containing 3A
Synonyms Tob3, 2400004H09Rik
MMRRC Submission 038979-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0799 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 155825098-155845550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155831927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 449 (V449A)
Ref Sequence ENSEMBL: ENSMUSP00000030903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030903] [ENSMUST00000184913]
AlphaFold Q925I1
Predicted Effect probably damaging
Transcript: ENSMUST00000030903
AA Change: V449A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030903
Gene: ENSMUSG00000029036
AA Change: V449A

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 0.7272 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,100,101 (GRCm39) T33I possibly damaging Het
4930555F03Rik A G 8: 49,948,474 (GRCm39) noncoding transcript Het
Abcf3 T C 16: 20,378,084 (GRCm39) L538P probably damaging Het
Adamts6 T C 13: 104,450,779 (GRCm39) S321P probably damaging Het
Adgra2 G A 8: 27,602,523 (GRCm39) R362H probably damaging Het
AI597479 T G 1: 43,150,330 (GRCm39) S147A probably benign Het
Ajm1 A G 2: 25,468,574 (GRCm39) S446P possibly damaging Het
Ampd3 T C 7: 110,399,904 (GRCm39) F340L probably damaging Het
Bmal2 T C 6: 146,724,751 (GRCm39) probably benign Het
Bpifa6 A T 2: 153,834,192 (GRCm39) D328V probably benign Het
Brca2 T C 5: 150,483,658 (GRCm39) S2903P probably damaging Het
Cct3 A T 3: 88,206,652 (GRCm39) probably null Het
Cdk4 A G 10: 126,900,863 (GRCm39) T172A probably damaging Het
Chd5 A G 4: 152,468,616 (GRCm39) D1760G probably damaging Het
Chd7 A G 4: 8,801,310 (GRCm39) probably benign Het
Crybb2 T C 5: 113,210,037 (GRCm39) I109V probably benign Het
Csmd3 A G 15: 48,048,780 (GRCm39) probably benign Het
Dach1 G T 14: 98,406,051 (GRCm39) T232K possibly damaging Het
Dnlz A G 2: 26,241,485 (GRCm39) V81A possibly damaging Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Eps15l1 C T 8: 73,099,929 (GRCm39) D821N probably damaging Het
Fam186a G A 15: 99,839,893 (GRCm39) P2117L probably damaging Het
Fam83d T A 2: 158,621,808 (GRCm39) F173Y probably damaging Het
Gm9116 A T 3: 93,817,772 (GRCm39) R214S probably benign Het
Gtpbp1 A G 15: 79,600,401 (GRCm39) I445V probably damaging Het
H2-M2 G A 17: 37,793,640 (GRCm39) T122I probably damaging Het
Hgd C T 16: 37,448,971 (GRCm39) probably benign Het
Hip1r A G 5: 124,135,004 (GRCm39) Y380C probably benign Het
Hspa8 G A 9: 40,715,137 (GRCm39) G389R probably damaging Het
Htt C A 5: 34,975,097 (GRCm39) D622E probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm4a A G 4: 118,004,189 (GRCm39) probably null Het
Map3k9 G A 12: 81,769,043 (GRCm39) P1025S probably benign Het
Or8b47 G A 9: 38,435,437 (GRCm39) M136I probably benign Het
Pabpc1l C A 2: 163,873,134 (GRCm39) H135N probably benign Het
Pacsin2 A T 15: 83,263,998 (GRCm39) S346R probably benign Het
Pcdhb20 A G 18: 37,638,938 (GRCm39) Y488C probably damaging Het
Pkdcc G A 17: 83,531,347 (GRCm39) C452Y probably damaging Het
Poglut1 T C 16: 38,355,083 (GRCm39) probably null Het
Prss59 A G 6: 40,905,533 (GRCm39) M41T probably damaging Het
Pxk T C 14: 8,148,123 (GRCm38) F409L probably benign Het
Pygm G A 19: 6,436,048 (GRCm39) probably benign Het
Rabep2 T C 7: 126,037,896 (GRCm39) S223P probably damaging Het
Rpp40 C T 13: 36,086,034 (GRCm39) R109H probably benign Het
Sbf2 T C 7: 109,940,562 (GRCm39) Y1266C possibly damaging Het
Slc5a4a T C 10: 76,012,368 (GRCm39) V346A probably benign Het
Smpd3 G T 8: 106,991,421 (GRCm39) H377Q possibly damaging Het
Sppl2a C A 2: 126,762,227 (GRCm39) probably benign Het
Tas2r134 T C 2: 51,518,385 (GRCm39) I288T probably benign Het
Trim35 T A 14: 66,546,650 (GRCm39) H472Q probably damaging Het
Trpm5 C A 7: 142,632,088 (GRCm39) R907L probably damaging Het
Ube2e2 G T 14: 18,630,393 (GRCm38) S56* probably null Het
Vmn2r88 A C 14: 51,651,959 (GRCm39) R432S possibly damaging Het
Wdr24 A G 17: 26,045,102 (GRCm39) Y279C probably damaging Het
Wdr90 A G 17: 26,079,104 (GRCm39) V246A probably benign Het
Xrn2 T A 2: 146,871,818 (GRCm39) N385K probably benign Het
Zfp28 T A 7: 6,387,182 (GRCm39) S73T possibly damaging Het
Zfp345 T C 2: 150,314,271 (GRCm39) E422G probably benign Het
Zhx2 A G 15: 57,684,709 (GRCm39) E26G probably benign 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
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
R4564:Atad3a UTSW 4 155,831,766 (GRCm39) splice site probably null
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'- TGTCCTCCCGTAAAGAGCAGTGAG -3'
(R):5'- GGAGAGCTGCCAAGTTACATCCATC -3'

Sequencing Primer
(F):5'- TTGCCAGGGCACATGTACAG -3'
(R):5'- ACAGAGAAACCCTGTCTCGA -3'
Posted On 2013-10-16