Incidental Mutation 'R4293:Atpaf1'
ID 323161
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 041082-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.655) question?
Stock # R4293 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115642025-115669120 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115645556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 142 (M142L)
Ref Sequence ENSEMBL: ENSMUSP00000135831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175725] [ENSMUST00000176047] [ENSMUST00000176192] [ENSMUST00000177280]
AlphaFold Q811I0
Predicted Effect probably benign
Transcript: ENSMUST00000175725
AA Change: M1L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135073
Gene: ENSMUSG00000028710
AA Change: M1L

DomainStartEndE-ValueType
Pfam:ATP11 1 189 2.5e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176047
AA Change: M142L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000135831
Gene: ENSMUSG00000028710
AA Change: M142L

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: M142L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000135214
Gene: ENSMUSG00000028710
AA Change: M142L

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: M64L
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (60/61)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 T C 19: 4,915,468 (GRCm39) E428G probably benign Het
Arfgef2 T C 2: 166,732,211 (GRCm39) I1600T probably benign Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Asgr2 C A 11: 69,989,057 (GRCm39) T167K probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Bms1 T C 6: 118,382,308 (GRCm39) probably null Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cdca2 T C 14: 67,952,299 (GRCm39) D24G probably benign Het
Celsr2 T C 3: 108,300,993 (GRCm39) R2767G probably benign Het
Cip2a T A 16: 48,833,612 (GRCm39) F571Y probably benign Het
Cyp2c55 A T 19: 39,000,235 (GRCm39) I145F probably damaging Het
Ddx18 T C 1: 121,489,121 (GRCm39) T309A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
Fbf1 A G 11: 116,039,720 (GRCm39) L713P probably damaging Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fnbp1 A G 2: 30,995,362 (GRCm39) F24S probably damaging Het
Gm16686 A T 4: 88,673,710 (GRCm39) probably benign Het
Gmps A G 3: 63,898,040 (GRCm39) M275V probably damaging Het
Igdcc4 A G 9: 65,031,892 (GRCm39) probably null Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kif18a T C 2: 109,123,398 (GRCm39) V224A probably benign Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mettl18 A G 1: 163,824,171 (GRCm39) D164G probably damaging Het
Myo5a A T 9: 75,051,453 (GRCm39) T349S probably benign Het
Or1ad6 T C 11: 50,860,253 (GRCm39) M136T probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Pik3c3 G A 18: 30,477,043 (GRCm39) A855T probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Rev1 A T 1: 38,147,500 (GRCm39) D13E possibly damaging Het
Sec16a A G 2: 26,312,167 (GRCm39) Y1998H probably benign Het
Slc4a5 C T 6: 83,237,511 (GRCm39) R165C probably damaging Het
Slfn10-ps T C 11: 82,926,260 (GRCm39) noncoding transcript Het
Slfn9 T C 11: 82,873,334 (GRCm39) N523S probably benign Het
Spata13 T A 14: 60,947,004 (GRCm39) M684K probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tenm3 T C 8: 48,848,693 (GRCm39) T49A probably damaging Het
Tep1 T C 14: 51,084,318 (GRCm39) I954V probably benign Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Vwce A G 19: 10,636,996 (GRCm39) T693A probably benign Het
Xpr1 A G 1: 155,188,542 (GRCm39) F366S possibly damaging Het
Zfp317 A G 9: 19,557,990 (GRCm39) probably null 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
R1637:Atpaf1 UTSW 4 115,645,499 (GRCm39) missense probably benign 0.00
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
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'- TCTGTGTCCCTTCTCTGAGGAG -3'
(R):5'- CCATGAGCTCCTTGACCACTAG -3'

Sequencing Primer
(F):5'- CCTTCTCTGAGGAGGTGCG -3'
(R):5'- AGACTACATTTCTTATGAGTGGGGAC -3'
Posted On 2015-06-20