Incidental Mutation 'IGL02316:Atp5f1b'
ID 288040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp5f1b
Ensembl Gene ENSMUSG00000025393
Gene Name ATP synthase F1 subunit beta
Synonyms Atp5b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02316
Quality Score
Status
Chromosome 10
Chromosomal Location 127919176-127926257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127920178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 108 (V108A)
Ref Sequence ENSEMBL: ENSMUSP00000026459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026459]
AlphaFold P56480
Predicted Effect probably benign
Transcript: ENSMUST00000026459
AA Change: V108A

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000026459
Gene: ENSMUSG00000025393
AA Change: V108A

DomainStartEndE-ValueType
low complexity region 2 38 N/A INTRINSIC
Pfam:ATP-synt_ab_N 63 129 2.9e-23 PFAM
AAA 198 382 1.5e-6 SMART
Pfam:ATP-synt_ab_C 418 527 2.5e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217728
Coding Region Coverage
Validation Efficiency
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 consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 G T 13: 4,253,458 (GRCm39) probably benign Het
Arhgap26 C T 18: 38,775,599 (GRCm39) noncoding transcript Het
B230307C23Rik G A 16: 97,809,850 (GRCm39) V9M probably damaging Het
Ccdc85c T A 12: 108,177,829 (GRCm39) H321L probably damaging Het
Diaph3 A T 14: 87,223,551 (GRCm39) M321K possibly damaging Het
Dicer1 G A 12: 104,668,812 (GRCm39) A1290V probably damaging Het
Dnah6 G A 6: 73,145,894 (GRCm39) T839M probably benign Het
Eif3a G A 19: 60,760,076 (GRCm39) probably benign Het
Eml1 T C 12: 108,501,018 (GRCm39) probably benign Het
Exoc4 A G 6: 33,887,519 (GRCm39) Q769R probably damaging Het
Fam184a T G 10: 53,514,335 (GRCm39) T426P probably damaging Het
Fsip2 C A 2: 82,809,137 (GRCm39) H1819N probably benign Het
Gm6686 T A 17: 15,786,500 (GRCm39) probably benign Het
Hadha T C 5: 30,331,565 (GRCm39) S464G probably benign Het
Ighv5-17 A T 12: 113,822,775 (GRCm39) C115* probably null Het
Jmjd6 T C 11: 116,733,928 (GRCm39) Y31C possibly damaging Het
Klrb1-ps1 G A 6: 129,093,532 (GRCm39) noncoding transcript Het
Mgat1 T C 11: 49,152,185 (GRCm39) Y223H probably damaging Het
Muc4 T C 16: 32,569,668 (GRCm39) S243P possibly damaging Het
Numa1 T C 7: 101,650,577 (GRCm39) L69P probably damaging Het
Or11h6 T C 14: 50,879,744 (GRCm39) I2T probably benign Het
Or1j21 A T 2: 36,683,632 (GRCm39) H128L probably damaging Het
Or1j4 C A 2: 36,740,294 (GRCm39) P79T probably damaging Het
Or4p23 A G 2: 88,577,187 (GRCm39) F15S probably damaging Het
Pde1c A T 6: 56,128,336 (GRCm39) D332E possibly damaging Het
Pitpnm1 A G 19: 4,162,835 (GRCm39) I1143V probably benign Het
Rsl1 T A 13: 67,325,120 (GRCm39) probably null Het
Scg2 A C 1: 79,413,398 (GRCm39) L442V probably damaging Het
Sez6l A T 5: 112,610,828 (GRCm39) V530E probably damaging Het
Ubr4 T C 4: 139,200,489 (GRCm39) I4655T possibly damaging Het
Zcwpw1 T C 5: 137,808,272 (GRCm39) probably benign Het
Other mutations in Atp5f1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02819:Atp5f1b APN 10 127,919,821 (GRCm39) missense probably damaging 0.99
R0308:Atp5f1b UTSW 10 127,921,908 (GRCm39) missense probably benign 0.11
R0496:Atp5f1b UTSW 10 127,922,043 (GRCm39) missense possibly damaging 0.60
R1052:Atp5f1b UTSW 10 127,925,921 (GRCm39) missense probably damaging 1.00
R1418:Atp5f1b UTSW 10 127,919,167 (GRCm39) start gained probably benign
R1764:Atp5f1b UTSW 10 127,919,949 (GRCm39) splice site probably benign
R4968:Atp5f1b UTSW 10 127,919,856 (GRCm39) missense probably damaging 1.00
R5092:Atp5f1b UTSW 10 127,919,854 (GRCm39) missense probably benign 0.09
R5807:Atp5f1b UTSW 10 127,924,431 (GRCm39) unclassified probably benign
R7296:Atp5f1b UTSW 10 127,921,391 (GRCm39) missense probably benign 0.18
R8008:Atp5f1b UTSW 10 127,919,277 (GRCm39) missense unknown
R8238:Atp5f1b UTSW 10 127,921,019 (GRCm39) missense possibly damaging 0.75
R8711:Atp5f1b UTSW 10 127,921,369 (GRCm39) missense probably damaging 1.00
R8932:Atp5f1b UTSW 10 127,924,850 (GRCm39) missense probably benign 0.04
R9039:Atp5f1b UTSW 10 127,919,767 (GRCm39) missense probably benign
X0057:Atp5f1b UTSW 10 127,925,983 (GRCm39) missense possibly damaging 0.83
Posted On 2015-04-16