Incidental Mutation 'R8876:Atpaf1'
ID 676564
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 068688-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.624) question?
Stock # R8876 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 115642025-115669120 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115645548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 139 (I139T)
Ref Sequence ENSEMBL: ENSMUSP00000135831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000175725] [ENSMUST00000176047] [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 possibly damaging
Transcript: ENSMUST00000176047
AA Change: I139T

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135831
Gene: ENSMUSG00000028710
AA Change: I139T

DomainStartEndE-ValueType
low complexity region 9 39 N/A INTRINSIC
Pfam:ATP11 91 329 2.7e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000177280
AA Change: I139T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135214
Gene: ENSMUSG00000028710
AA Change: I139T

DomainStartEndE-ValueType
low complexity region 9 39 N/A INTRINSIC
Pfam:ATP11 89 212 7.3e-32 PFAM
Predicted Effect
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (55/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A C 2: 93,668,403 (GRCm39) L356R probably damaging Het
Acvr1 A T 2: 58,338,422 (GRCm39) D433E possibly damaging Het
Aldh3b1 A G 19: 3,971,502 (GRCm39) L122P probably damaging Het
Ap3b1 T G 13: 94,540,586 (GRCm39) N169K possibly damaging Het
Apbb2 A G 5: 66,609,000 (GRCm39) S216P probably benign Het
Arap3 T A 18: 38,130,077 (GRCm39) H28L possibly damaging Het
Arhgap44 C T 11: 64,898,896 (GRCm39) M760I possibly damaging Het
Arhgef19 G T 4: 140,975,193 (GRCm39) A304S probably benign Het
BC024139 G T 15: 76,010,320 (GRCm39) T62K possibly damaging Het
Bmal2 G A 6: 146,723,492 (GRCm39) G274D probably benign Het
Capn5 T C 7: 97,780,902 (GRCm39) T292A probably benign Het
Card19 T C 13: 49,358,814 (GRCm39) N53S possibly damaging Het
Cep97 A G 16: 55,742,467 (GRCm39) V232A possibly damaging Het
Cfap298 A G 16: 90,724,281 (GRCm39) I164T possibly damaging Het
Clca3a2 G T 3: 144,777,360 (GRCm39) T837K probably benign Het
Col8a2 G C 4: 126,204,647 (GRCm39) G219A probably damaging Het
Ctu2 T C 8: 123,206,951 (GRCm39) S365P Het
Dnah2 T C 11: 69,382,348 (GRCm39) D1254G probably damaging Het
Dscam A G 16: 96,420,828 (GRCm39) L1686S probably damaging Het
Fgr A G 4: 132,726,071 (GRCm39) probably benign Het
Frmd4a T A 2: 4,606,111 (GRCm39) S612T probably damaging Het
Gadd45gip1 T C 8: 85,560,748 (GRCm39) I121T probably damaging Het
Gapvd1 A G 2: 34,568,560 (GRCm39) V1353A possibly damaging Het
Gdf3 G A 6: 122,583,942 (GRCm39) P142S probably damaging Het
Gm19965 G A 1: 116,749,776 (GRCm39) G486R unknown Het
Gpatch2l T C 12: 86,308,405 (GRCm39) L307P probably damaging Het
Grm3 T C 5: 9,561,580 (GRCm39) K757E probably damaging Het
Inppl1 T A 7: 101,472,750 (GRCm39) H1218L possibly damaging Het
Jag2 T C 12: 112,873,257 (GRCm39) I1055V probably benign Het
Krtap9-5 G T 11: 99,840,340 (GRCm39) C347F unknown Het
Magi2 T A 5: 20,856,190 (GRCm39) Y1050* probably null Het
Myrf A G 19: 10,206,378 (GRCm39) probably benign Het
Ntpcr T G 8: 126,464,785 (GRCm39) probably benign Het
Or13a19 T C 7: 139,902,716 (GRCm39) Y35H probably damaging Het
Or1p1b C T 11: 74,130,846 (GRCm39) T152I probably damaging Het
Or2y1c T C 11: 49,361,386 (GRCm39) M136T probably damaging Het
Palmd T G 3: 116,720,899 (GRCm39) D145A probably damaging Het
Pdcd1 A G 1: 93,980,155 (GRCm39) S21P probably benign Het
Pkn1 T C 8: 84,398,879 (GRCm39) T696A possibly damaging Het
Pnpt1 T A 11: 29,096,769 (GRCm39) probably benign Het
Sbf2 T A 7: 110,049,146 (GRCm39) I273F probably damaging Het
Skic3 T G 13: 76,323,403 (GRCm39) D1382E probably benign Het
Slc16a4 A T 3: 107,208,101 (GRCm39) N204Y probably benign Het
Slc38a1 T C 15: 96,514,091 (GRCm39) I44V possibly damaging Het
Smpdl3a T C 10: 57,685,166 (GRCm39) V312A probably damaging Het
Ston1 A G 17: 88,942,600 (GRCm39) Y2C probably benign Het
Syde1 A T 10: 78,425,325 (GRCm39) Y229N probably damaging Het
Ttc6 T A 12: 57,784,489 (GRCm39) C1853S possibly damaging Het
Ttn A G 2: 76,609,249 (GRCm39) I17650T possibly damaging Het
Upf1 T C 8: 70,796,918 (GRCm39) E105G possibly damaging Het
Wrn A G 8: 33,814,422 (GRCm39) W341R probably benign Het
Xndc1 C T 7: 101,729,754 (GRCm39) P267L probably benign Het
Zbtb26 T C 2: 37,326,896 (GRCm39) T47A probably benign Het
Zc3h10 A T 10: 128,380,163 (GRCm39) V398E probably damaging Het
Zfp652 G T 11: 95,639,921 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- TCTGTGTCCCTTCTCTGAGGAG -3'
(R):5'- TCCATGAGCTCCTTGACCAC -3'

Sequencing Primer
(F):5'- CCTTCTCTGAGGAGGTGCG -3'
(R):5'- ACATGACTACAGGATCTTGTCTAGC -3'
Posted On 2021-07-15