Incidental Mutation 'R8218:Atp5pb'
ID 636465
Institutional Source Beutler Lab
Gene Symbol Atp5pb
Ensembl Gene ENSMUSG00000000563
Gene Name ATP synthase peripheral stalk-membrane subunit b
Synonyms C76477, Atp5f1
MMRRC Submission 067637-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8218 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 105850014-105866579 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to G at 105866502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000113022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010278] [ENSMUST00000118209] [ENSMUST00000128005] [ENSMUST00000130994] [ENSMUST00000133320]
AlphaFold Q9CQQ7
Predicted Effect probably benign
Transcript: ENSMUST00000010278
SMART Domains Protein: ENSMUSP00000010278
Gene: ENSMUSG00000000561

DomainStartEndE-ValueType
low complexity region 40 51 N/A INTRINSIC
WD40 70 107 5.11e1 SMART
WD40 115 153 1.06e-3 SMART
WD40 156 196 4.51e-7 SMART
WD40 201 241 2.75e1 SMART
WD40 244 284 9.94e-1 SMART
WD40 286 326 1.99e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118209
AA Change: M1T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113022
Gene: ENSMUSG00000000563
AA Change: M1T

DomainStartEndE-ValueType
Pfam:Mt_ATP-synt_B 83 244 2.5e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128005
SMART Domains Protein: ENSMUSP00000122465
Gene: ENSMUSG00000000561

DomainStartEndE-ValueType
WD40 13 51 1.06e-3 SMART
WD40 54 94 4.51e-7 SMART
WD40 99 139 2.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000130994
SMART Domains Protein: ENSMUSP00000120517
Gene: ENSMUSG00000000561

DomainStartEndE-ValueType
PDB:4GQB|B 1 52 8e-18 PDB
Predicted Effect probably null
Transcript: ENSMUST00000133320
AA Change: M1T
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 99% (72/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik G A 15: 84,839,668 (GRCm39) H191Y probably damaging Het
5730480H06Rik T A 5: 48,536,769 (GRCm39) L155* probably null Het
Ackr4 T C 9: 103,976,410 (GRCm39) N179S probably benign Het
Acp5 T C 9: 22,040,902 (GRCm39) Y107C probably damaging Het
Aff4 A T 11: 53,289,084 (GRCm39) H411L probably damaging Het
Atp8b5 G A 4: 43,372,728 (GRCm39) probably null Het
C1qtnf2 A G 11: 43,381,775 (GRCm39) T166A possibly damaging Het
Dctn2 A G 10: 127,112,398 (GRCm39) D170G probably damaging Het
Dennd3 T A 15: 73,384,622 (GRCm39) S10T probably benign Het
Ehbp1 T C 11: 22,046,096 (GRCm39) Y551C possibly damaging Het
Eif4g2 A T 7: 110,673,639 (GRCm39) D743E possibly damaging Het
Esr1 G A 10: 4,696,808 (GRCm39) probably null Het
Exo1 A T 1: 175,728,480 (GRCm39) I515L probably benign Het
Fam83h C T 15: 75,874,886 (GRCm39) G817D probably damaging Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Garin1a T C 6: 29,286,072 (GRCm39) I177T probably damaging Het
Gcn1 G A 5: 115,719,588 (GRCm39) S361N probably benign Het
Gm6337 C T 14: 6,050,613 (GRCm38) probably null Het
Grk4 T A 5: 34,826,540 (GRCm39) S47T probably benign Het
Gstp2 C A 19: 4,091,668 (GRCm39) M20I probably benign Het
Harbi1 T C 2: 91,543,237 (GRCm39) F233L probably benign Het
Iqch C T 9: 63,389,915 (GRCm39) V755I possibly damaging Het
Iws1 T C 18: 32,226,688 (GRCm39) F756L probably benign Het
Kcnh6 T G 11: 105,908,200 (GRCm39) V272G possibly damaging Het
Kcnj10 C T 1: 172,196,539 (GRCm39) R18C probably damaging Het
Kmt2c A C 5: 25,488,104 (GRCm39) S4670A probably damaging Het
Krt80 T G 15: 101,267,884 (GRCm39) M18L probably benign Het
Lbx1 A G 19: 45,223,359 (GRCm39) V103A probably benign Het
Marchf8 A T 6: 116,315,059 (GRCm39) probably benign Het
Muc16 T A 9: 18,548,315 (GRCm39) T5993S possibly damaging Het
Or10ag57 C T 2: 87,218,922 (GRCm39) T291I probably damaging Het
Or1j17 A G 2: 36,578,685 (GRCm39) T224A probably benign Het
Or1o4 A G 17: 37,590,711 (GRCm39) V200A probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pbxip1 A G 3: 89,352,902 (GRCm39) I183V probably benign Het
Pcdh20 T A 14: 88,706,047 (GRCm39) I418F probably damaging Het
Pclo T C 5: 14,725,677 (GRCm39) F1512L unknown Het
Phf2 G T 13: 48,958,104 (GRCm39) T970K unknown Het
Pidd1 A G 7: 141,019,566 (GRCm39) V698A probably damaging Het
Pik3ca T A 3: 32,491,996 (GRCm39) V198D possibly damaging Het
Pip5k1c T A 10: 81,142,250 (GRCm39) D153E probably damaging Het
Ppfia2 A G 10: 106,699,236 (GRCm39) D795G probably benign Het
Pramel12 A T 4: 143,145,706 (GRCm39) I392F probably benign Het
Prkar2a C A 9: 108,596,448 (GRCm39) A131D possibly damaging Het
Pter A G 2: 12,985,366 (GRCm39) D232G probably damaging Het
Qser1 C T 2: 104,593,268 (GRCm39) R1583Q probably damaging Het
Rasal2 A C 1: 156,984,951 (GRCm39) V932G probably damaging Het
Rasgrf2 G A 13: 92,130,796 (GRCm39) A154V Het
Rbm4 A G 19: 4,837,444 (GRCm39) Y347H probably damaging Het
Rfxank C A 8: 70,584,085 (GRCm39) probably null Het
Robo1 C G 16: 72,786,678 (GRCm39) R897G possibly damaging Het
Sash1 G A 10: 8,627,000 (GRCm39) T364I probably damaging Het
Skint6 T A 4: 112,696,471 (GRCm39) probably null Het
Slc22a4 T A 11: 53,877,407 (GRCm39) M495L probably benign Het
Slc39a8 G A 3: 135,563,325 (GRCm39) V212I probably benign Het
Slc40a1 A C 1: 45,950,129 (GRCm39) V441G probably benign Het
Slc7a11 A T 3: 50,378,501 (GRCm39) Y246N probably damaging Het
Spata9 T C 13: 76,125,892 (GRCm39) V125A probably benign Het
Svopl T A 6: 37,991,741 (GRCm39) M380L probably benign Het
Sycp2l T C 13: 41,271,544 (GRCm39) Y23H probably damaging Het
Syt11 A T 3: 88,669,427 (GRCm39) V155E probably benign Het
Syt5 T C 7: 4,545,822 (GRCm39) Y147C probably damaging Het
Thg1l T C 11: 45,846,277 (GRCm39) T6A probably benign Het
Tlr2 A G 3: 83,745,546 (GRCm39) L179P probably damaging Het
Tsn A T 1: 118,232,984 (GRCm39) Y107N probably damaging Het
Tspan32 A T 7: 142,564,832 (GRCm39) Y114F probably benign Het
Tube1 A C 10: 39,023,375 (GRCm39) S341R possibly damaging Het
Ubn2 T A 6: 38,466,214 (GRCm39) V516D probably benign Het
Vmn1r21 G T 6: 57,820,910 (GRCm39) T178K noncoding transcript Het
Vmn2r108 A G 17: 20,683,465 (GRCm39) Y580H probably damaging Het
Wdr75 T A 1: 45,857,342 (GRCm39) F546L probably damaging Het
Yy1 A G 12: 108,759,619 (GRCm39) D94G probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zfy2 T C Y: 2,133,421 (GRCm39) T9A unknown Het
Other mutations in Atp5pb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1018:Atp5pb UTSW 3 105,861,488 (GRCm39) missense possibly damaging 0.77
R1763:Atp5pb UTSW 3 105,858,905 (GRCm39) critical splice donor site probably null
R2045:Atp5pb UTSW 3 105,851,190 (GRCm39) intron probably benign
R5213:Atp5pb UTSW 3 105,863,227 (GRCm39) nonsense probably null
R7051:Atp5pb UTSW 3 105,851,083 (GRCm39) missense probably benign 0.07
R7426:Atp5pb UTSW 3 105,851,118 (GRCm39) missense probably benign 0.11
R7812:Atp5pb UTSW 3 105,851,157 (GRCm39) missense probably benign 0.10
R7896:Atp5pb UTSW 3 105,863,259 (GRCm39) missense probably damaging 1.00
R9668:Atp5pb UTSW 3 105,863,356 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACACGGGGCTGGAAATACAC -3'
(R):5'- CGCGAGAATTGTGTCTACCC -3'

Sequencing Primer
(F):5'- GTCAAGGAGAAATCGCGTTTC -3'
(R):5'- GAGAATTGTGTCTACCCTTCCAG -3'
Posted On 2020-07-13