Incidental Mutation 'R1763:Atp5f1'
ID 193176
Institutional Source Beutler Lab
Gene Symbol Atp5f1
Ensembl Gene ENSMUSG00000000563
Gene Name ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1
Synonyms C76477
MMRRC Submission 039795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1763 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 105942698-105960099 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 105951589 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000118209] [ENSMUST00000133320]
AlphaFold Q9CQQ7
Predicted Effect probably null
Transcript: ENSMUST00000118209
SMART Domains Protein: ENSMUSP00000113022
Gene: ENSMUSG00000000563

Pfam:Mt_ATP-synt_B 83 244 2.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143022
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153666
Predicted Effect probably null
Transcript: ENSMUST00000199311
Predicted Effect probably null
Transcript: ENSMUST00000199311
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.0%
Validation Efficiency 98% (85/87)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 122,110,681 (GRCm38) V794M probably benign Het
Abca4 A T 3: 122,163,830 (GRCm38) T772S probably damaging Het
Acox3 G A 5: 35,608,339 (GRCm38) probably null Het
Adamts17 A G 7: 67,147,715 (GRCm38) N1060S probably damaging Het
Akap8l C T 17: 32,332,483 (GRCm38) R511H probably damaging Het
Als2 T C 1: 59,174,991 (GRCm38) Y1346C probably benign Het
Apol10b A T 15: 77,585,015 (GRCm38) F321I probably benign Het
Bloc1s5 A G 13: 38,619,084 (GRCm38) probably benign Het
Btbd9 T C 17: 30,334,297 (GRCm38) N397S possibly damaging Het
Cacna1d A G 14: 30,099,196 (GRCm38) V1121A probably benign Het
Cad G A 5: 31,060,951 (GRCm38) V460I probably damaging Het
Caprin2 A T 6: 148,843,121 (GRCm38) D935E probably damaging Het
Ccdc150 A T 1: 54,354,636 (GRCm38) K686N probably benign Het
Ccnt2 T C 1: 127,799,406 (GRCm38) F186L possibly damaging Het
Cd5l G A 3: 87,367,880 (GRCm38) probably null Het
Chrna7 A G 7: 63,099,252 (GRCm38) V494A probably benign Het
Clec2i T G 6: 128,895,425 (GRCm38) Y198* probably null Het
Col22a1 A G 15: 72,007,176 (GRCm38) V44A probably damaging Het
Cspg4 T A 9: 56,886,979 (GRCm38) I666N probably damaging Het
Cyp3a16 A T 5: 145,465,031 (GRCm38) probably null Het
Dlk1 G T 12: 109,458,119 (GRCm38) C102F probably damaging Het
Dscc1 CTGAATGAAT CTGAAT 15: 55,080,176 (GRCm38) probably benign Het
Dscc1 T A 15: 55,084,139 (GRCm38) H215L probably damaging Het
Dus1l C G 11: 120,795,671 (GRCm38) G15R probably benign Het
Eps8l1 G T 7: 4,471,823 (GRCm38) V268L probably benign Het
F2 A C 2: 91,634,906 (GRCm38) C104W probably damaging Het
F5 C A 1: 164,192,535 (GRCm38) Q860K probably benign Het
Fmn2 T C 1: 174,502,266 (GRCm38) L74P unknown Het
Frmd6 G A 12: 70,893,622 (GRCm38) R347Q possibly damaging Het
Gabbr1 T G 17: 37,054,767 (GRCm38) S158A probably damaging Het
Galc T C 12: 98,234,266 (GRCm38) N295S probably damaging Het
Gm436 A G 4: 144,669,959 (GRCm38) V401A probably benign Het
Gm6408 A T 5: 146,482,322 (GRCm38) N49I probably damaging Het
Grm1 T A 10: 11,079,866 (GRCm38) T225S possibly damaging Het
Grm8 C T 6: 27,285,867 (GRCm38) V849I possibly damaging Het
Hmcn2 A G 2: 31,314,590 (GRCm38) D59G probably damaging Het
Iars G A 13: 49,723,077 (GRCm38) probably null Het
Ifi27 C T 12: 103,437,682 (GRCm38) A127V possibly damaging Het
Ikbip A G 10: 91,096,481 (GRCm38) N329S probably damaging Het
Ikbke T C 1: 131,265,877 (GRCm38) T479A probably benign Het
Krt12 T A 11: 99,416,060 (GRCm38) N472I probably damaging Het
Lmnb2 A T 10: 80,907,191 (GRCm38) L193Q probably damaging Het
Lrriq4 T C 3: 30,650,252 (GRCm38) V128A probably benign Het
Map4k4 C A 1: 40,000,757 (GRCm38) probably benign Het
Mtmr7 T C 8: 40,551,811 (GRCm38) T575A probably benign Het
Myh13 G A 11: 67,334,576 (GRCm38) A256T probably benign Het
Napepld A G 5: 21,683,410 (GRCm38) Y14H probably benign Het
Npr1 T C 3: 90,459,337 (GRCm38) T552A probably damaging Het
Nudt15 A G 14: 73,521,647 (GRCm38) F127S probably benign Het
Nwd2 T A 5: 63,808,271 (GRCm38) S1733T probably benign Het
Olfr1189 A G 2: 88,592,436 (GRCm38) I211V probably benign Het
Olfr1257 G A 2: 89,881,129 (GRCm38) G101E probably damaging Het
Olfr1348 T G 7: 6,501,441 (GRCm38) I262L probably benign Het
Olfr907 A G 9: 38,499,038 (GRCm38) Y123C probably damaging Het
Olfr96 T C 17: 37,225,430 (GRCm38) F102L probably benign Het
Paqr7 A T 4: 134,507,098 (GRCm38) I89F probably benign Het
Pidd1 C A 7: 141,439,630 (GRCm38) V706L probably benign Het
Polr3c A T 3: 96,713,595 (GRCm38) I469N probably damaging Het
Ppip5k1 A G 2: 121,348,547 (GRCm38) Y233H probably damaging Het
Psmc3 A G 2: 91,055,995 (GRCm38) T166A possibly damaging Het
Ptchd3 A T 11: 121,842,542 (GRCm38) I753L probably benign Het
Rad21 T C 15: 51,978,170 (GRCm38) K50R probably damaging Het
Rad54b A G 4: 11,604,989 (GRCm38) E479G possibly damaging Het
Rfwd3 C T 8: 111,288,242 (GRCm38) R326Q probably damaging Het
Rgs20 C T 1: 4,910,640 (GRCm38) R154Q probably damaging Het
Sbf1 T C 15: 89,294,425 (GRCm38) D1449G probably damaging Het
Sema4g C T 19: 45,001,605 (GRCm38) R708* probably null Het
Sept9 T C 11: 117,290,428 (GRCm38) I18T probably benign Het
Serpinb6b A G 13: 32,978,058 (GRCm38) E280G probably damaging Het
Slamf6 T C 1: 171,942,587 (GRCm38) probably benign Het
Slc6a21 G A 7: 45,287,734 (GRCm38) W554* probably null Het
Slco1a4 A C 6: 141,812,731 (GRCm38) I518R probably benign Het
Stab1 T A 14: 31,168,416 (GRCm38) Q26L probably benign Het
Stox1 A G 10: 62,667,965 (GRCm38) F104L probably damaging Het
Suco T C 1: 161,834,949 (GRCm38) K638E possibly damaging Het
Synpo T C 18: 60,602,784 (GRCm38) K458E probably damaging Het
Szt2 A T 4: 118,372,368 (GRCm38) W2820R unknown Het
Tmtc1 C A 6: 148,294,618 (GRCm38) G499W probably damaging Het
Tonsl A C 15: 76,638,066 (GRCm38) S242R probably damaging Het
Trpc4 G T 3: 54,194,822 (GRCm38) S47I possibly damaging Het
Zfp106 G A 2: 120,520,428 (GRCm38) R1581C probably benign Het
Zfp27 A G 7: 29,895,376 (GRCm38) L388P possibly damaging Het
Other mutations in Atp5f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1018:Atp5f1 UTSW 3 105,954,172 (GRCm38) missense possibly damaging 0.77
R2045:Atp5f1 UTSW 3 105,943,874 (GRCm38) intron probably benign
R5213:Atp5f1 UTSW 3 105,955,911 (GRCm38) nonsense probably null
R7051:Atp5f1 UTSW 3 105,943,767 (GRCm38) missense probably benign 0.07
R7426:Atp5f1 UTSW 3 105,943,802 (GRCm38) missense probably benign 0.11
R7812:Atp5f1 UTSW 3 105,943,841 (GRCm38) missense probably benign 0.10
R7896:Atp5f1 UTSW 3 105,955,943 (GRCm38) missense probably damaging 1.00
R8218:Atp5f1 UTSW 3 105,959,186 (GRCm38) start codon destroyed probably null 1.00
R9668:Atp5f1 UTSW 3 105,956,040 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
(F):5'- aatcaagggcagacatggag -3'
Posted On 2014-05-23