Incidental Mutation 'IGL00479:Atpaf2'
ID 4586
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 # IGL00479
Quality Score
Status
Chromosome 11
Chromosomal Location 60291452-60309283 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 60300410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108721] [ENSMUST00000145532]
AlphaFold Q91YY4
Predicted Effect probably null
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 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A C 4: 156,255,029 (GRCm39) probably benign Het
Antkmt A G 17: 26,010,418 (GRCm39) Y104H probably damaging Het
Arid4a A G 12: 71,119,367 (GRCm39) K651E probably damaging Het
Cd177 G T 7: 24,457,440 (GRCm39) S200R probably benign Het
Cd209g A T 8: 4,185,622 (GRCm39) T19S probably benign Het
Cxcr4 A G 1: 128,516,792 (GRCm39) W290R probably damaging Het
D930020B18Rik T C 10: 121,521,489 (GRCm39) L491P probably damaging Het
Dnah7a T C 1: 53,458,843 (GRCm39) D3765G probably damaging Het
Dpy19l4 T G 4: 11,290,411 (GRCm39) M327L probably benign Het
Eya3 G A 4: 132,431,709 (GRCm39) G314D probably damaging Het
Fmo1 G A 1: 162,657,632 (GRCm39) T503I probably benign Het
Galnt3 A G 2: 65,925,628 (GRCm39) S370P probably damaging Het
Gm5431 A T 11: 48,786,241 (GRCm39) S45T probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Gpat2 A G 2: 127,276,381 (GRCm39) E637G probably damaging Het
Gpr84 T C 15: 103,217,834 (GRCm39) Y81C probably damaging Het
Hnmt A T 2: 23,893,896 (GRCm39) Y199* probably null Het
Homer1 G T 13: 93,483,156 (GRCm39) R81L probably damaging Het
Hspa4 A T 11: 53,171,544 (GRCm39) probably null Het
Marchf6 A G 15: 31,475,909 (GRCm39) I649T probably benign Het
Mcm8 A G 2: 132,659,094 (GRCm39) N26S probably benign Het
Mgat5 T C 1: 127,315,204 (GRCm39) L310P probably damaging Het
Pah T C 10: 87,414,755 (GRCm39) L369P probably benign Het
Parp4 A C 14: 56,853,917 (GRCm39) K844N possibly damaging Het
Tlr5 A G 1: 182,801,394 (GRCm39) T233A probably benign Het
Tsnaxip1 A G 8: 106,568,055 (GRCm39) T274A probably benign Het
Wdr48 A G 9: 119,734,456 (GRCm39) Y125C probably damaging Het
Other mutations in Atpaf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20