Incidental Mutation 'IGL01121:Atp5mf'
ID 51145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5mf
Ensembl Gene ENSMUSG00000038690
Gene Name ATP synthase membrane subunit f
Synonyms hypothetical protein, clone:2-31, 1110019H14Rik, Atp5j2
Accession Numbers
Essential gene? Probably essential (E-score: 0.820) question?
Stock # IGL01121
Quality Score
Status
Chromosome 5
Chromosomal Location 145120514-145128351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 145121378 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 68 (V68L)
Ref Sequence ENSEMBL: ENSMUSP00000125504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037056] [ENSMUST00000070487] [ENSMUST00000160422] [ENSMUST00000160574] [ENSMUST00000160629] [ENSMUST00000161741] [ENSMUST00000162360] [ENSMUST00000162244]
AlphaFold P56135
Predicted Effect probably benign
Transcript: ENSMUST00000037056
AA Change: V56L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039726
Gene: ENSMUSG00000038690
AA Change: V56L

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 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: ENSMUST00000161741
AA Change: V68L

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000125504
Gene: ENSMUSG00000038690
AA Change: V68L

DomainStartEndE-ValueType
Pfam:WRW 6 84 2.8e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200584
Predicted Effect probably benign
Transcript: ENSMUST00000161845
Predicted Effect probably benign
Transcript: ENSMUST00000162360
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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik G A 18: 62,888,219 (GRCm39) noncoding transcript Het
4930432E11Rik A T 7: 29,273,426 (GRCm39) noncoding transcript Het
Alg3 T C 16: 20,429,397 (GRCm39) E31G probably damaging Het
Arhgap29 A G 3: 121,803,512 (GRCm39) E764G probably damaging Het
Birc6 T A 17: 74,938,033 (GRCm39) I2645K probably benign Het
Capn11 A G 17: 45,950,058 (GRCm39) S369P probably benign Het
Car4 A T 11: 84,855,172 (GRCm39) probably null Het
Ccdc185 C T 1: 182,576,222 (GRCm39) V156I probably benign Het
Cpsf2 G T 12: 101,954,965 (GRCm39) E245D probably damaging Het
Dnah11 T C 12: 118,014,430 (GRCm39) D2019G probably benign Het
Dscc1 A G 15: 54,945,721 (GRCm39) probably benign Het
Dzip3 T C 16: 48,765,244 (GRCm39) D490G probably benign Het
E2f8 G A 7: 48,517,569 (GRCm39) Q745* probably null Het
Fat3 T A 9: 15,909,697 (GRCm39) T2102S probably benign Het
Fgf7 C T 2: 125,930,152 (GRCm39) probably benign Het
Fstl4 T C 11: 52,705,464 (GRCm39) F47L probably benign Het
Gm15097 A T X: 148,587,324 (GRCm39) R129S possibly damaging Het
Gm4297 C T X: 24,418,854 (GRCm39) D200N probably benign Het
Itgb5 G T 16: 33,740,359 (GRCm39) D490Y probably benign Het
Kansl1 A G 11: 104,226,422 (GRCm39) S912P probably benign Het
Kcnq3 A T 15: 65,877,826 (GRCm39) probably benign Het
Kctd6 A G 14: 8,222,656 (GRCm38) H166R possibly damaging Het
Kel T C 6: 41,679,343 (GRCm39) D140G probably benign Het
Lrif1 C A 3: 106,642,980 (GRCm39) S177* probably null Het
Lrp1 A T 10: 127,419,722 (GRCm39) C962* probably null Het
Lypd5 A T 7: 24,050,976 (GRCm39) Y29F probably benign Het
Mmrn1 A G 6: 60,952,928 (GRCm39) D403G possibly damaging Het
Nhsl1 T G 10: 18,387,458 (GRCm39) V244G probably damaging Het
Or6c35 T C 10: 129,168,804 (GRCm39) I18T probably benign Het
Ptprd A T 4: 75,872,438 (GRCm39) probably benign Het
Rcan2 A T 17: 44,328,775 (GRCm39) I69L probably damaging Het
Rprd2 A G 3: 95,683,862 (GRCm39) L373P probably damaging Het
Slc10a4 T C 5: 73,164,929 (GRCm39) C174R probably damaging Het
Tas2r134 C T 2: 51,518,001 (GRCm39) T160I probably damaging Het
Tbc1d19 T A 5: 54,054,404 (GRCm39) L464* probably null Het
Tmem45a2 C T 16: 56,861,153 (GRCm39) D225N possibly damaging Het
Unc79 G A 12: 103,131,890 (GRCm39) C2139Y probably damaging Het
Vmn2r101 G T 17: 19,809,936 (GRCm39) G241C probably damaging Het
Vmn2r91 T C 17: 18,356,766 (GRCm39) V811A possibly damaging Het
Wdr11 T C 7: 129,229,746 (GRCm39) Y844H probably benign Het
Wdr70 T C 15: 7,902,655 (GRCm39) K656E possibly damaging Het
Zfp579 C A 7: 4,996,246 (GRCm39) C555F possibly damaging Het
Other mutations in Atp5mf
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1974:Atp5mf UTSW 5 145,121,389 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-06-21