Incidental Mutation 'IGL01941:Atpaf2'
ID 181176
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 # IGL01941
Quality Score
Status
Chromosome 11
Chromosomal Location 60291452-60309283 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60294724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 233 (I233T)
Ref Sequence ENSEMBL: ENSMUSP00000104361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108721] [ENSMUST00000145532]
AlphaFold Q91YY4
Predicted Effect probably benign
Transcript: ENSMUST00000108721
AA Change: I233T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000104361
Gene: ENSMUSG00000042709
AA Change: I233T

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
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624G23Rik A T 12: 24,094,802 (GRCm39) L123Q probably benign Het
Abca2 C T 2: 25,333,107 (GRCm39) S1602F probably benign Het
Abcc9 C A 6: 142,551,630 (GRCm39) C1191F probably damaging Het
Adam3 G T 8: 25,171,462 (GRCm39) probably benign Het
Aldh1l1 G T 6: 90,539,677 (GRCm39) G202V probably damaging Het
Ankrd46 T C 15: 36,486,083 (GRCm39) N57D possibly damaging Het
Asic1 A T 15: 99,596,982 (GRCm39) H548L possibly damaging Het
Ccdc185 G T 1: 182,575,769 (GRCm39) Q307K probably benign Het
Cep120 T C 18: 53,856,220 (GRCm39) D399G probably benign Het
Cnn2 G A 10: 79,828,388 (GRCm39) V122M probably benign Het
Dgkd T C 1: 87,852,281 (GRCm39) S472P probably damaging Het
Dock5 A C 14: 68,049,681 (GRCm39) I701S probably damaging Het
Efl1 A G 7: 82,347,184 (GRCm39) E570G probably benign Het
Eln G A 5: 134,747,024 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,831 (GRCm39) V81A probably benign Het
Fbxw21 T G 9: 108,977,224 (GRCm39) I162L probably benign Het
Fhl2 G A 1: 43,170,832 (GRCm39) Q161* probably null Het
Gabrg2 A G 11: 41,862,548 (GRCm39) Y179H probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grik5 A T 7: 24,764,607 (GRCm39) I152N probably damaging Het
H2-Ab1 A T 17: 34,486,408 (GRCm39) K156* probably null Het
Hecw1 T C 13: 14,490,895 (GRCm39) Y699C probably benign Het
Ipo9 A C 1: 135,335,811 (GRCm39) V202G possibly damaging Het
Itprid1 A G 6: 55,945,030 (GRCm39) R584G probably benign Het
Jmjd6 A T 11: 116,732,184 (GRCm39) probably null Het
Lama5 A G 2: 179,834,185 (GRCm39) I1416T possibly damaging Het
Matn1 T C 4: 130,679,572 (GRCm39) probably benign Het
Mavs T C 2: 131,088,525 (GRCm39) V443A probably damaging Het
Mpdz A T 4: 81,204,624 (GRCm39) S1798R possibly damaging Het
Muc6 A C 7: 141,218,497 (GRCm39) S2059A probably benign Het
Or4a78 A T 2: 89,497,812 (GRCm39) C139* probably null Het
Otud7b G T 3: 96,062,776 (GRCm39) G672C probably benign Het
Palld T A 8: 61,988,734 (GRCm39) T572S probably benign Het
Pde6b T A 5: 108,570,902 (GRCm39) V379E probably benign Het
Peak1 A G 9: 56,166,059 (GRCm39) V623A probably damaging Het
Prr12 C T 7: 44,698,083 (GRCm39) probably benign Het
Rxra T C 2: 27,644,253 (GRCm39) I315T probably damaging Het
Slc11a1 C T 1: 74,416,338 (GRCm39) A55V probably damaging Het
Slitrk3 T C 3: 72,958,404 (GRCm39) N123D possibly damaging Het
Smr2l A G 5: 88,430,301 (GRCm39) S66G probably benign Het
Spcs1 A G 14: 30,722,829 (GRCm39) M82T probably damaging Het
Sspo A G 6: 48,472,116 (GRCm39) E113G probably benign Het
Syne2 A G 12: 76,013,994 (GRCm39) K3062E probably benign Het
Traf3ip2 T C 10: 39,510,656 (GRCm39) S310P probably benign Het
Ubp1 T C 9: 113,785,826 (GRCm39) L167S probably damaging Het
Vmn1r196 T A 13: 22,477,869 (GRCm39) C169* probably null Het
Vmn1r223 T A 13: 23,434,407 (GRCm39) F334I possibly damaging Het
Vmn2r10 A T 5: 109,143,820 (GRCm39) I710N probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wdr26 A G 1: 181,038,635 (GRCm39) probably benign Het
Wnt7a A G 6: 91,371,645 (GRCm39) F106L probably benign Het
Zfp940 C T 7: 29,546,295 (GRCm39) V34M 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
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 2014-05-07