Incidental Mutation 'R1637:Atpaf1'
ID 173235
Institutional Source Beutler Lab
Gene Symbol Atpaf1
Ensembl Gene ENSMUSG00000028710
Gene Name ATP synthase mitochondrial F1 complex assembly factor 1
Synonyms 6330547J17Rik, ATP11, ATP11p
MMRRC Submission 039673-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R1637 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 115642025-115669120 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115645499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 123 (S123G)
Ref Sequence ENSEMBL: ENSMUSP00000135214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175725] [ENSMUST00000176047] [ENSMUST00000176192] [ENSMUST00000177280]
AlphaFold Q811I0
Predicted Effect probably benign
Transcript: ENSMUST00000175725
SMART Domains Protein: ENSMUSP00000135073
Gene: ENSMUSG00000028710

DomainStartEndE-ValueType
Pfam:ATP11 1 189 2.5e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176047
AA Change: S123G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135831
Gene: ENSMUSG00000028710
AA Change: S123G

DomainStartEndE-ValueType
low complexity region 9 39 N/A INTRINSIC
Pfam:ATP11 91 329 2.7e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176192
Predicted Effect probably benign
Transcript: ENSMUST00000177280
AA Change: S123G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000135214
Gene: ENSMUSG00000028710
AA Change: S123G

DomainStartEndE-ValueType
low complexity region 9 39 N/A INTRINSIC
Pfam:ATP11 89 212 7.3e-32 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000184179
AA Change: S45G
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik T A 5: 109,886,858 (GRCm39) H50L probably benign Het
A2m C A 6: 121,631,571 (GRCm39) L623M probably benign Het
Agpat5 A G 8: 18,931,827 (GRCm39) R316G probably benign Het
Ankrd39 G A 1: 36,578,573 (GRCm39) Q151* probably null Het
Arl13b T C 16: 62,651,147 (GRCm39) D30G probably damaging Het
Bicra A G 7: 15,706,614 (GRCm39) S1276P probably benign Het
Car1 T C 3: 14,842,846 (GRCm39) I60V possibly damaging Het
Cnbd2 A G 2: 156,215,644 (GRCm39) I411V probably damaging Het
Cyp2c37 A T 19: 39,990,426 (GRCm39) K375* probably null Het
Cysrt1 T C 2: 25,129,297 (GRCm39) I72V probably benign Het
Dock9 T A 14: 121,889,187 (GRCm39) D312V possibly damaging Het
Ecd T C 14: 20,396,760 (GRCm39) I42V probably damaging Het
Ercc5 A G 1: 44,206,694 (GRCm39) T536A probably benign Het
Gjd2 A T 2: 113,841,789 (GRCm39) Y229* probably null Het
Gramd1b A T 9: 40,215,834 (GRCm39) probably null Het
Hcrtr2 T C 9: 76,140,281 (GRCm39) T336A probably benign Het
Hjurp G A 1: 88,193,843 (GRCm39) S279F probably benign Het
Ift140 C T 17: 25,244,608 (GRCm39) L152F probably benign Het
Izumo1r A G 9: 14,813,105 (GRCm39) C56R probably damaging Het
Kif7 T C 7: 79,352,585 (GRCm39) E850G probably damaging Het
Larp4b C G 13: 9,201,133 (GRCm39) T335S probably benign Het
Lmo7 A T 14: 102,118,268 (GRCm39) R42S probably damaging Het
Lrrk2 T G 15: 91,618,261 (GRCm39) L920R probably benign Het
Mapk8 G A 14: 33,132,919 (GRCm39) R6C probably benign Het
Mpped1 C T 15: 83,676,191 (GRCm39) probably benign Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ndufb8 C T 19: 44,543,474 (GRCm39) M66I probably benign Het
Nkpd1 T C 7: 19,257,904 (GRCm39) I411T probably benign Het
Nrxn3 A G 12: 89,321,238 (GRCm39) N382S possibly damaging Het
Or2t47 A T 11: 58,442,246 (GRCm39) V273E possibly damaging Het
Or4c114 A T 2: 88,905,396 (GRCm39) L13Q probably damaging Het
Pear1 T C 3: 87,664,060 (GRCm39) E303G probably damaging Het
Plekhg4 T A 8: 106,108,413 (GRCm39) M1047K probably benign Het
Pofut1 T G 2: 153,107,709 (GRCm39) F268C probably damaging Het
Psrc1 G T 3: 108,292,609 (GRCm39) S134I probably damaging Het
Slc6a2 A T 8: 93,708,618 (GRCm39) I245F probably benign Het
Slc9a1 T C 4: 133,149,534 (GRCm39) S787P probably benign Het
Sorcs3 T A 19: 48,736,798 (GRCm39) probably null Het
Syne2 C A 12: 76,042,776 (GRCm39) H3916N probably damaging Het
Taar6 A G 10: 23,861,079 (GRCm39) S156P probably benign Het
Tnn A G 1: 159,975,170 (GRCm39) F86L probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Ttll8 A G 15: 88,798,647 (GRCm39) V696A probably benign Het
Utrn C A 10: 12,312,108 (GRCm39) D616Y probably damaging Het
Vmn2r18 A T 5: 151,508,222 (GRCm39) C301S probably damaging Het
Xdh T C 17: 74,207,573 (GRCm39) Y928C probably benign Het
Zfand1 G A 3: 10,411,042 (GRCm39) A104V probably benign Het
Other mutations in Atpaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02529:Atpaf1 APN 4 115,648,466 (GRCm39) missense probably damaging 1.00
IGL03122:Atpaf1 APN 4 115,648,475 (GRCm39) missense probably damaging 1.00
R0396:Atpaf1 UTSW 4 115,642,449 (GRCm39) missense possibly damaging 0.58
R0924:Atpaf1 UTSW 4 115,652,635 (GRCm39) missense probably damaging 1.00
R1462:Atpaf1 UTSW 4 115,642,150 (GRCm39) unclassified probably benign
R1614:Atpaf1 UTSW 4 115,653,954 (GRCm39) missense possibly damaging 0.52
R2180:Atpaf1 UTSW 4 115,645,557 (GRCm39) start codon destroyed probably null 0.03
R4290:Atpaf1 UTSW 4 115,645,556 (GRCm39) missense probably benign 0.02
R4293:Atpaf1 UTSW 4 115,645,556 (GRCm39) missense probably benign 0.02
R7291:Atpaf1 UTSW 4 115,668,288 (GRCm39) missense probably damaging 1.00
R7423:Atpaf1 UTSW 4 115,647,827 (GRCm39) missense probably damaging 1.00
R8876:Atpaf1 UTSW 4 115,645,548 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- GTGTTGCACTGCTGATCCCTAGAG -3'
(R):5'- GCAGGGTACACATTTACTGACGGAG -3'

Sequencing Primer
(F):5'- CCTAGAGGCTTACCTATAGCTGAG -3'
(R):5'- TACACATTTACTGACGGAGAATGAG -3'
Posted On 2014-04-24