Incidental Mutation 'R6388:Atpaf2'
ID 515641
Institutional Source Beutler Lab
Gene Symbol Atpaf2
Ensembl Gene ENSMUSG00000042709
Gene Name ATP synthase mitochondrial F1 complex assembly factor 2
Synonyms ATP12, ATP12p
MMRRC Submission 044537-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6388 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 60291452-60309283 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 60307833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070681] [ENSMUST00000108721] [ENSMUST00000139477] [ENSMUST00000145532]
AlphaFold Q91YY4
Predicted Effect probably benign
Transcript: ENSMUST00000070681
SMART Domains Protein: ENSMUSP00000064926
Gene: ENSMUSG00000018415

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 38 206 3.4e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108721
SMART Domains Protein: ENSMUSP00000104361
Gene: ENSMUSG00000042709

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Pfam:ATP12 56 177 7.9e-43 PFAM
low complexity region 227 237 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138696
Predicted Effect probably benign
Transcript: ENSMUST00000139477
SMART Domains Protein: ENSMUSP00000135441
Gene: ENSMUSG00000018415

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:Vac_ImportDeg 37 209 3.7e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141987
Predicted Effect probably benign
Transcript: ENSMUST00000145532
SMART Domains Protein: ENSMUSP00000135761
Gene: ENSMUSG00000042709

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
Pfam:ATP12 56 154 9.3e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156966
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.8%
Validation Efficiency 100% (35/35)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,410,230 (GRCm39) R560W probably benign Het
Abi3 A G 11: 95,724,464 (GRCm39) probably null Het
Ap1b1 T C 11: 4,976,319 (GRCm39) I449T probably damaging Het
Car5a T C 8: 122,653,910 (GRCm39) Y118C probably damaging Het
Ccdc18 A G 5: 108,349,214 (GRCm39) D1002G possibly damaging Het
Ciao1 A T 2: 127,088,396 (GRCm39) C142* probably null Het
Clec14a A G 12: 58,314,243 (GRCm39) *460R probably null Het
Defb30 T A 14: 63,287,213 (GRCm39) probably benign Het
Dnah10 A G 5: 124,906,710 (GRCm39) K4247R probably benign Het
Eif5b G A 1: 38,058,081 (GRCm39) A128T unknown Het
Fam3b T C 16: 97,279,591 (GRCm39) T113A probably benign Het
Fam98c C T 7: 28,854,728 (GRCm39) R126Q probably damaging Het
Fastkd3 C T 13: 68,738,319 (GRCm39) L623F probably damaging Het
Golga1 T C 2: 38,913,183 (GRCm39) D543G probably benign Het
Gpatch8 A T 11: 102,369,314 (GRCm39) V1408E probably damaging Het
Icosl T A 10: 77,905,366 (GRCm39) L3Q possibly damaging Homo
Igf2r A G 17: 12,902,787 (GRCm39) V2421A probably benign Het
Iglon5 T C 7: 43,127,556 (GRCm39) T165A possibly damaging Het
Map3k11 A G 19: 5,740,279 (GRCm39) E2G probably damaging Het
Nipbl A T 15: 8,330,268 (GRCm39) C2386S probably damaging Het
Nos1 A G 5: 118,052,501 (GRCm39) E837G possibly damaging Het
Npc1l1 T C 11: 6,174,145 (GRCm39) E720G probably damaging Het
Or1e35 A G 11: 73,798,118 (GRCm39) S67P probably damaging Het
Pla1a T A 16: 38,217,834 (GRCm39) M385L probably benign Het
Saxo4 A G 19: 10,459,665 (GRCm39) V14A probably damaging Het
Setdb2 T C 14: 59,662,146 (GRCm39) T82A probably benign Het
Smarcd3 A G 5: 24,801,024 (GRCm39) F128L possibly damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Syvn1 T A 19: 6,102,381 (GRCm39) V483E probably damaging Het
Timm22 G A 11: 76,297,945 (GRCm39) V19I probably benign Het
Ttn C A 2: 76,621,189 (GRCm39) D15716Y probably damaging Het
Ube3a C T 7: 58,954,669 (GRCm39) probably null Het
Ugp2 A G 11: 21,272,051 (GRCm39) probably null Het
Vmn1r13 T A 6: 57,186,903 (GRCm39) F21I probably benign Het
Vps13d T C 4: 144,882,144 (GRCm39) S1150G probably benign Het
Zp3 T C 5: 136,011,548 (GRCm39) V122A probably benign Het
Other mutations in Atpaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Atpaf2 APN 11 60,300,410 (GRCm39) critical splice donor site probably null
IGL00504:Atpaf2 APN 11 60,296,629 (GRCm39) missense probably damaging 1.00
IGL01941:Atpaf2 APN 11 60,294,724 (GRCm39) missense probably benign 0.01
IGL02960:Atpaf2 APN 11 60,296,650 (GRCm39) missense probably damaging 0.99
IGL03082:Atpaf2 APN 11 60,294,670 (GRCm39) missense probably damaging 0.99
R1103:Atpaf2 UTSW 11 60,294,776 (GRCm39) missense probably benign 0.06
R4782:Atpaf2 UTSW 11 60,295,238 (GRCm39) missense probably damaging 0.99
R5180:Atpaf2 UTSW 11 60,296,695 (GRCm39) missense possibly damaging 0.69
R5569:Atpaf2 UTSW 11 60,307,706 (GRCm39) missense probably damaging 0.98
R5947:Atpaf2 UTSW 11 60,296,708 (GRCm39) splice site probably benign
R8206:Atpaf2 UTSW 11 60,295,304 (GRCm39) missense probably damaging 0.97
R8359:Atpaf2 UTSW 11 60,298,129 (GRCm39) missense probably damaging 1.00
Z1176:Atpaf2 UTSW 11 60,307,601 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2018-05-04