Incidental Mutation 'IGL02960:Atpaf2'
ID 365297
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atpaf2
Ensembl Gene ENSMUSG00000042709
Gene Name ATP synthase mitochondrial F1 complex assembly factor 2
Synonyms ATP12, ATP12p
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02960
Quality Score
Status
Chromosome 11
Chromosomal Location 60291452-60309283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 60296650 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 161 (E161G)
Ref Sequence ENSEMBL: ENSMUSP00000104361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108721] [ENSMUST00000145532]
AlphaFold Q91YY4
Predicted Effect probably damaging
Transcript: ENSMUST00000108721
AA Change: E161G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104361
Gene: ENSMUSG00000042709
AA Change: E161G

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 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
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,380,257 (GRCm39) R14C probably benign Het
Adam29 A T 8: 56,325,701 (GRCm39) L251* probably null Het
Brwd1 T C 16: 95,858,666 (GRCm39) D381G probably damaging Het
Cept1 T A 3: 106,446,712 (GRCm39) R45* probably null Het
Col3a1 A G 1: 45,367,615 (GRCm39) E273G unknown Het
Cuzd1 T C 7: 130,921,832 (GRCm39) N57D probably benign Het
Cyp2b13 A G 7: 25,761,101 (GRCm39) K53E probably benign Het
Fadd T C 7: 144,134,276 (GRCm39) E203G probably benign Het
Gm3159 G A 14: 4,400,552 (GRCm38) probably null Het
Gpr137c T C 14: 45,483,890 (GRCm39) F206L possibly damaging Het
Hephl1 G T 9: 14,995,615 (GRCm39) T471N probably damaging Het
Ido1 A T 8: 25,083,345 (GRCm39) probably benign Het
Krt40 C T 11: 99,430,693 (GRCm39) probably null Het
Lrp2 T A 2: 69,285,797 (GRCm39) probably benign Het
Lrrc8a T A 2: 30,147,025 (GRCm39) L613H probably damaging Het
Mettl14 A G 3: 123,168,534 (GRCm39) Y169H probably damaging Het
Nlrp4a A G 7: 26,149,155 (GRCm39) Q254R probably benign Het
Or4c15 A C 2: 88,760,128 (GRCm39) M177R possibly damaging Het
Or7c70 A T 10: 78,683,371 (GRCm39) I126N probably damaging Het
Pira12 T C 7: 3,900,078 (GRCm39) T175A possibly damaging Het
Pkhd1 A T 1: 20,447,670 (GRCm39) M2241K possibly damaging Het
Ptprd G A 4: 76,047,105 (GRCm39) S387L probably damaging Het
Ryr1 A C 7: 28,759,478 (GRCm39) L3264R probably damaging Het
Serpina16 G A 12: 103,641,638 (GRCm39) T29I probably benign Het
Slc9a7 A G X: 20,052,382 (GRCm39) M237T probably benign Het
Tbck A G 3: 132,428,544 (GRCm39) T300A probably benign Het
Tcaf1 A C 6: 42,663,393 (GRCm39) D162E probably benign Het
Unc80 G A 1: 66,717,217 (GRCm39) probably benign Het
Usp17le A C 7: 104,417,947 (GRCm39) H398Q probably benign Het
Utp15 G A 13: 98,389,389 (GRCm39) T303M probably benign Het
Vmn2r86 A C 10: 130,289,636 (GRCm39) D86E possibly damaging Het
Zmym2 T A 14: 57,175,870 (GRCm39) C822S probably benign Het
Zp3r T C 1: 130,511,175 (GRCm39) D336G possibly damaging Het
Zpr1 A G 9: 46,184,849 (GRCm39) H82R probably damaging 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
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
R6388:Atpaf2 UTSW 11 60,307,833 (GRCm39) start gained 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
Posted On 2015-12-18