Incidental Mutation 'IGL02819:Atp5f1b'
ID 360907
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 # IGL02819
Quality Score
Status
Chromosome 10
Chromosomal Location 127919176-127926257 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127919821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 63 (I63T)
Ref Sequence ENSEMBL: ENSMUSP00000026459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026459]
AlphaFold P56480
Predicted Effect probably damaging
Transcript: ENSMUST00000026459
AA Change: I63T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026459
Gene: ENSMUSG00000025393
AA Change: I63T

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: ENSMUST00000126040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139295
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127439
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik C T 13: 54,712,033 (GRCm39) probably benign Het
Abcb8 T A 5: 24,611,422 (GRCm39) N470K probably benign Het
Adamtsl3 A T 7: 82,223,329 (GRCm39) N1037Y probably damaging Het
Adcy3 T C 12: 4,256,986 (GRCm39) probably benign Het
Ankrd35 A G 3: 96,597,524 (GRCm39) D983G possibly damaging Het
Asf1a A G 10: 53,483,920 (GRCm39) T118A probably benign Het
Atp2a3 T C 11: 72,868,033 (GRCm39) Y389H probably damaging Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Caprin2 A G 6: 148,749,756 (GRCm39) V518A probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clcn2 C A 16: 20,528,006 (GRCm39) E487* probably null Het
Cog6 T A 3: 52,916,966 (GRCm39) K184M probably damaging Het
Cpn1 A G 19: 43,956,907 (GRCm39) Y286H probably damaging Het
Cpne9 A T 6: 113,277,624 (GRCm39) S448C probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Cys1 T C 12: 24,717,169 (GRCm39) E132G possibly damaging Het
Depdc7 T C 2: 104,555,071 (GRCm39) M280V probably benign Het
Fhad1 C T 4: 141,646,069 (GRCm39) D298N probably benign Het
Golga1 T A 2: 38,929,090 (GRCm39) N318Y probably null Het
Hsd3b6 A G 3: 98,718,262 (GRCm39) V34A probably benign Het
Krt9 A G 11: 100,082,346 (GRCm39) I193T probably damaging Het
Lama4 A T 10: 38,902,565 (GRCm39) I180F possibly damaging Het
Lamc1 T C 1: 153,126,407 (GRCm39) T458A probably damaging Het
Lin28b A T 10: 45,346,155 (GRCm39) M1K probably null Het
Myo16 T C 8: 10,372,600 (GRCm39) C100R probably damaging Het
Nt5c3 A T 6: 56,860,718 (GRCm39) M279K probably damaging Het
Ppfia2 A G 10: 106,742,255 (GRCm39) Y1016C probably damaging Het
Rpl6 A G 5: 121,345,264 (GRCm39) probably benign Het
Rpn2 G T 2: 157,158,130 (GRCm39) probably null Het
Rspry1 T C 8: 95,380,884 (GRCm39) V396A probably benign Het
Serpina3i C T 12: 104,234,761 (GRCm39) T364I probably damaging Het
Shprh A G 10: 11,030,509 (GRCm39) K242R possibly damaging Het
Slit3 A G 11: 35,062,417 (GRCm39) N72S possibly damaging Het
Syt17 G A 7: 118,009,143 (GRCm39) probably benign Het
Tatdn3 C A 1: 190,787,541 (GRCm39) A114S probably benign Het
Tjp2 A G 19: 24,091,469 (GRCm39) V564A probably damaging Het
Tmem117 T C 15: 94,777,253 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 144,995,703 (GRCm39) E452G probably damaging Het
Tns1 T C 1: 73,976,407 (GRCm39) D1147G probably damaging Het
Traf6 T C 2: 101,515,134 (GRCm39) S97P probably damaging Het
Ttc28 A T 5: 111,414,449 (GRCm39) E1321D probably benign Het
Other mutations in Atp5f1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02316:Atp5f1b APN 10 127,920,178 (GRCm39) missense probably benign 0.42
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 2015-12-18