Incidental Mutation 'R6388:Atpaf2'
ID515641
Institutional Source Beutler Lab
Gene Symbol Atpaf2
Ensembl Gene ENSMUSG00000042709
Gene NameATP synthase mitochondrial F1 complex assembly factor 2
SynonymsATP12p, ATP12
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6388 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location60400626-60418457 bp(-) (GRCm38)
Type of Mutationstart gained
DNA Base Change (assembly) C to A at 60417007 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070681] [ENSMUST00000108721] [ENSMUST00000139477] [ENSMUST00000145532]
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: 77,262,111 R560W probably benign Het
Abi3 A G 11: 95,833,638 probably null Het
Ap1b1 T C 11: 5,026,319 I449T probably damaging Het
Car5a T C 8: 121,927,171 Y118C probably damaging Het
Ccdc18 A G 5: 108,201,348 D1002G possibly damaging Het
Ciao1 A T 2: 127,246,476 C142* probably null Het
Clec14a A G 12: 58,267,457 *460R probably null Het
Defb30 T A 14: 63,049,764 probably benign Het
Dnah10 A G 5: 124,829,646 K4247R probably benign Het
Eif5b G A 1: 38,019,000 A128T unknown Het
Fam3b T C 16: 97,478,391 T113A probably benign Het
Fam98c C T 7: 29,155,303 R126Q probably damaging Het
Fastkd3 C T 13: 68,590,200 L623F probably damaging Het
Golga1 T C 2: 39,023,171 D543G probably benign Het
Gpatch8 A T 11: 102,478,488 V1408E probably damaging Het
Icosl T A 10: 78,069,532 L3Q possibly damaging Homo
Igf2r A G 17: 12,683,900 V2421A probably benign Het
Iglon5 T C 7: 43,478,132 T165A possibly damaging Het
Map3k11 A G 19: 5,690,251 E2G probably damaging Het
Nipbl A T 15: 8,300,784 C2386S probably damaging Het
Nos1 A G 5: 117,914,436 E837G possibly damaging Het
Npc1l1 T C 11: 6,224,145 E720G probably damaging Het
Olfr395 A G 11: 73,907,292 S67P probably damaging Het
Pla1a T A 16: 38,397,472 M385L probably benign Het
Ppp1r32 A G 19: 10,482,301 V14A probably damaging Het
Setdb2 T C 14: 59,424,697 T82A probably benign Het
Smarcd3 A G 5: 24,596,026 F128L possibly damaging Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Syvn1 T A 19: 6,052,351 V483E probably damaging Het
Timm22 G A 11: 76,407,119 V19I probably benign Het
Ttn C A 2: 76,790,845 D15716Y probably damaging Het
Ube3a C T 7: 59,304,921 probably null Het
Ugp2 A G 11: 21,322,051 probably null Het
Vmn1r13 T A 6: 57,209,918 F21I probably benign Het
Vps13d T C 4: 145,155,574 S1150G probably benign Het
Zp3 T C 5: 135,982,694 V122A probably benign Het
Other mutations in Atpaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Atpaf2 APN 11 60409584 critical splice donor site probably null
IGL00504:Atpaf2 APN 11 60405803 missense probably damaging 1.00
IGL01941:Atpaf2 APN 11 60403898 missense probably benign 0.01
IGL02960:Atpaf2 APN 11 60405824 missense probably damaging 0.99
IGL03082:Atpaf2 APN 11 60403844 missense probably damaging 0.99
R1103:Atpaf2 UTSW 11 60403950 missense probably benign 0.06
R4782:Atpaf2 UTSW 11 60404412 missense probably damaging 0.99
R5180:Atpaf2 UTSW 11 60405869 missense possibly damaging 0.69
R5569:Atpaf2 UTSW 11 60416880 missense probably damaging 0.98
R5947:Atpaf2 UTSW 11 60405882 splice site probably benign
Z1176:Atpaf2 UTSW 11 60416775 missense probably benign 0.00
Predicted Primers
Posted On2018-05-04