Incidental Mutation 'R1974:Atp5mf'
ID 221397
Institutional Source Beutler Lab
Gene Symbol Atp5mf
Ensembl Gene ENSMUSG00000038690
Gene Name ATP synthase membrane subunit f
Synonyms hypothetical protein, clone:2-31, 1110019H14Rik, Atp5j2
MMRRC Submission 039987-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R1974 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 145120514-145128351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 145121389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 64 (L64Q)
Ref Sequence ENSEMBL: ENSMUSP00000125504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037056] [ENSMUST00000070487] [ENSMUST00000160422] [ENSMUST00000160574] [ENSMUST00000160629] [ENSMUST00000161741] [ENSMUST00000162244] [ENSMUST00000162360]
AlphaFold P56135
Predicted Effect probably damaging
Transcript: ENSMUST00000037056
AA Change: L52Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039726
Gene: ENSMUSG00000038690
AA Change: L52Q

DomainStartEndE-ValueType
Pfam:WRW 1 73 1.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000070487
SMART Domains Protein: ENSMUSP00000069243
Gene: ENSMUSG00000029625

DomainStartEndE-ValueType
ZnF_C3H1 35 61 1.7e-5 SMART
ZnF_C3H1 62 88 1.4e-10 SMART
ZnF_C3H1 90 110 3.7e-1 SMART
ZnF_C3H1 111 136 3.4e-9 SMART
low complexity region 143 157 N/A INTRINSIC
ZnF_C2HC 186 202 4.5e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160422
SMART Domains Protein: ENSMUSP00000125019
Gene: ENSMUSG00000029625

DomainStartEndE-ValueType
ZnF_C3H1 35 61 4.17e-3 SMART
ZnF_C3H1 62 88 3.41e-8 SMART
ZnF_C3H1 90 116 6.42e-4 SMART
ZnF_C3H1 118 142 2.86e-1 SMART
ZnF_C3H1 143 168 8.27e-7 SMART
low complexity region 175 191 N/A INTRINSIC
ZnF_C2HC 244 260 1.04e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160437
Predicted Effect probably benign
Transcript: ENSMUST00000160574
Predicted Effect probably benign
Transcript: ENSMUST00000160629
SMART Domains Protein: ENSMUSP00000124899
Gene: ENSMUSG00000029625

DomainStartEndE-ValueType
ZnF_C3H1 35 61 4.17e-3 SMART
ZnF_C3H1 62 88 3.41e-8 SMART
ZnF_C3H1 90 116 6.42e-4 SMART
ZnF_C3H1 118 142 2.86e-1 SMART
ZnF_C3H1 143 168 8.27e-7 SMART
low complexity region 175 189 N/A INTRINSIC
ZnF_C2HC 218 234 1.04e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000161741
AA Change: L64Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125504
Gene: ENSMUSG00000038690
AA Change: L64Q

DomainStartEndE-ValueType
Pfam:WRW 6 84 2.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200584
Predicted Effect probably benign
Transcript: ENSMUST00000160762
SMART Domains Protein: ENSMUSP00000125640
Gene: ENSMUSG00000029625

DomainStartEndE-ValueType
ZnF_C3H1 3 29 4.17e-3 SMART
ZnF_C3H1 30 56 3.41e-8 SMART
ZnF_C3H1 58 84 6.42e-4 SMART
ZnF_C3H1 86 110 2.86e-1 SMART
ZnF_C3H1 111 136 8.27e-7 SMART
low complexity region 143 157 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162244
SMART Domains Protein: ENSMUSP00000124966
Gene: ENSMUSG00000029625

DomainStartEndE-ValueType
ZnF_C3H1 35 61 4.17e-3 SMART
ZnF_C3H1 62 88 3.41e-8 SMART
ZnF_C3H1 90 116 6.42e-4 SMART
ZnF_C3H1 118 142 2.86e-1 SMART
ZnF_C3H1 143 168 8.27e-7 SMART
low complexity region 175 195 N/A INTRINSIC
ZnF_C2HC 219 235 1.04e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162360
Predicted Effect probably benign
Transcript: ENSMUST00000161845
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,773,028 (GRCm39) L739Q probably damaging Het
4933436I01Rik A T X: 66,963,655 (GRCm39) Y401* probably null Het
Abcg3 A G 5: 105,111,504 (GRCm39) V321A probably benign Het
Acad10 C A 5: 121,764,248 (GRCm39) V894L possibly damaging Het
Adam9 A G 8: 25,482,240 (GRCm39) I255T probably damaging Het
Ago3 T C 4: 126,240,544 (GRCm39) Y785C probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Akap4 A G X: 6,943,595 (GRCm39) S633G probably benign Het
Alox15 T A 11: 70,240,799 (GRCm39) T194S probably benign Het
Amh T C 10: 80,642,250 (GRCm39) S207P probably benign Het
Apc T A 18: 34,433,057 (GRCm39) C415S possibly damaging Het
Atg14 G A 14: 47,783,298 (GRCm39) R346C probably damaging Het
Barhl2 C G 5: 106,605,179 (GRCm39) E177Q probably benign Het
C1qtnf5 T C 9: 44,020,072 (GRCm39) V232A probably damaging Het
Calr T C 8: 85,570,786 (GRCm39) I290V probably benign Het
Cdh19 G C 1: 110,817,889 (GRCm39) Q618E possibly damaging Het
Celsr2 G T 3: 108,321,530 (GRCm39) D427E probably damaging Het
Cep250 T C 2: 155,831,424 (GRCm39) S1294P probably damaging Het
Chrna7 T A 7: 62,749,034 (GRCm39) T483S probably damaging Het
Clmn A T 12: 104,758,121 (GRCm39) W132R probably damaging Het
Cpsf2 G A 12: 101,956,306 (GRCm39) D370N probably benign Het
Crnn T C 3: 93,056,594 (GRCm39) V460A probably benign Het
Daam1 T A 12: 72,035,703 (GRCm39) I957N probably damaging Het
Defb9 T C 8: 22,371,905 (GRCm39) K36R probably benign Het
Dock10 T A 1: 80,488,143 (GRCm39) I2007F possibly damaging Het
Dpm1 A T 2: 168,059,667 (GRCm39) V143D probably damaging Het
Dync1h1 T C 12: 110,592,166 (GRCm39) V1110A possibly damaging Het
Erlec1 T G 11: 30,889,604 (GRCm39) K373N possibly damaging Het
Fbxo40 C T 16: 36,790,303 (GRCm39) G269E probably benign Het
Fbxw7 T A 3: 84,862,242 (GRCm39) C70S possibly damaging Het
Fhip2a T C 19: 57,373,809 (GRCm39) F690L probably damaging Het
Fnbp1 G T 2: 30,943,059 (GRCm39) R280S probably null Het
Gapvd1 G A 2: 34,590,853 (GRCm39) R940C probably damaging Het
Gfod2 T C 8: 106,444,142 (GRCm39) K134E possibly damaging Het
Gpi1 A T 7: 33,920,228 (GRCm39) probably null Het
Grik2 A T 10: 49,008,923 (GRCm39) N721K possibly damaging Het
Gsn G T 2: 35,191,483 (GRCm39) G455V probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Hpse A G 5: 100,840,104 (GRCm39) S338P probably damaging Het
Hyal2 T C 9: 107,449,371 (GRCm39) C376R probably damaging Het
Inf2 A G 12: 112,574,771 (GRCm39) T781A unknown Het
Iscu A G 5: 113,915,079 (GRCm39) probably benign Het
Kcna4 G A 2: 107,126,565 (GRCm39) G433D possibly damaging Het
Kir3dl2 T A X: 135,357,024 (GRCm39) N146I probably benign Het
Klrg1 T A 6: 122,259,721 (GRCm39) Q17L possibly damaging Het
Krt82 T G 15: 101,453,597 (GRCm39) Q263P probably benign Het
Mfrp T C 9: 44,017,669 (GRCm39) C554R probably damaging Het
Minar1 T G 9: 89,483,256 (GRCm39) T714P probably damaging Het
Mst1r T C 9: 107,791,962 (GRCm39) Y833H probably damaging Het
Mst1r T A 9: 107,793,132 (GRCm39) probably null Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nipal4 T C 11: 46,042,210 (GRCm39) N157S probably damaging Het
Notch2 G A 3: 97,980,071 (GRCm39) G195D probably damaging Het
Nrcam A T 12: 44,610,776 (GRCm39) H492L probably benign Het
Or10aa1 A T 1: 173,870,154 (GRCm39) I213F probably damaging Het
Or4p21 A T 2: 88,276,853 (GRCm39) I143N probably damaging Het
Papln G A 12: 83,828,811 (GRCm39) R817H probably damaging Het
Pcnx2 T C 8: 126,614,110 (GRCm39) E447G probably benign Het
Pdp2 T C 8: 105,320,538 (GRCm39) V129A probably benign Het
Plch2 A G 4: 155,069,410 (GRCm39) F1072S possibly damaging Het
Prag1 T A 8: 36,570,081 (GRCm39) D221E probably damaging Het
Prkg1 T C 19: 31,563,095 (GRCm39) D102G probably damaging Het
Psme4 T A 11: 30,769,011 (GRCm39) D662E probably benign Het
Ptprn T C 1: 75,231,464 (GRCm39) probably null Het
Ptprz1 A G 6: 22,986,310 (GRCm39) D370G probably damaging Het
Qser1 A G 2: 104,590,886 (GRCm39) S1637P probably damaging Het
Sema6a T A 18: 47,403,696 (GRCm39) H642L probably benign Het
Slc30a5 A T 13: 100,950,461 (GRCm39) F209I probably benign Het
Slc4a3 G T 1: 75,528,835 (GRCm39) E508* probably null Het
Stpg2 C T 3: 139,014,944 (GRCm39) R370* probably null Het
Tas2r113 T A 6: 132,870,796 (GRCm39) F275I probably benign Het
Tmem132d T G 5: 128,346,263 (GRCm39) K86N probably damaging Het
Tpgs2 A T 18: 25,273,593 (GRCm39) F189L probably damaging Het
Trmt6 A G 2: 132,652,968 (GRCm39) S104P probably damaging Het
Trpv3 T C 11: 73,174,514 (GRCm39) S294P probably damaging Het
Ugt2b36 A G 5: 87,228,727 (GRCm39) probably null Het
Vmn1r170 A T 7: 23,305,906 (GRCm39) M103L probably benign Het
Vmn2r107 T A 17: 20,575,879 (GRCm39) probably null Het
Vmn2r5 C T 3: 64,411,642 (GRCm39) E309K probably damaging Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Other mutations in Atp5mf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01121:Atp5mf APN 5 145,121,378 (GRCm39) missense probably benign 0.05
IGL02190:Atp5mf APN 5 145,120,642 (GRCm39) utr 3 prime probably benign
IGL02572:Atp5mf APN 5 145,124,047 (GRCm39) splice site probably benign
R0130:Atp5mf UTSW 5 145,124,992 (GRCm39) splice site probably benign
R4791:Atp5mf UTSW 5 145,121,365 (GRCm39) missense possibly damaging 0.78
R7347:Atp5mf UTSW 5 145,125,295 (GRCm39) splice site probably null
R9113:Atp5mf UTSW 5 145,128,315 (GRCm39) missense probably benign
R9789:Atp5mf UTSW 5 145,120,656 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCTCTCAGGTGGAAGAACG -3'
(R):5'- TGAATGGGCTTCAGATCCG -3'

Sequencing Primer
(F):5'- ACGCACAGGTCAGGAGCAC -3'
(R):5'- CTTGGGTTATGGAGATAGAACATCAC -3'
Posted On 2014-08-25