Incidental Mutation 'R8923:Atp5f1e'
ID 679375
Institutional Source Beutler Lab
Gene Symbol Atp5f1e
Ensembl Gene ENSMUSG00000016252
Gene Name ATP synthase F1 subunit epsilon
Synonyms Atp5e, 2410043G19Rik
MMRRC Submission 068768-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8923 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 174302868-174305894 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 174304309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 49 (S49*)
Ref Sequence ENSEMBL: ENSMUSP00000016396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016396] [ENSMUST00000016399] [ENSMUST00000016401] [ENSMUST00000117442] [ENSMUST00000120822]
AlphaFold P56382
Predicted Effect probably null
Transcript: ENSMUST00000016396
AA Change: S49*
SMART Domains Protein: ENSMUSP00000016396
Gene: ENSMUSG00000016252
AA Change: S49*

DomainStartEndE-ValueType
Pfam:ATP-synt_Eps 2 51 7.8e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000016399
SMART Domains Protein: ENSMUSP00000016399
Gene: ENSMUSG00000016255

DomainStartEndE-ValueType
Tubulin 47 244 3.42e-68 SMART
Tubulin_C 246 383 1.84e-41 SMART
low complexity region 433 448 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000016401
SMART Domains Protein: ENSMUSP00000016401
Gene: ENSMUSG00000016257

DomainStartEndE-ValueType
Pfam:PRELI 15 170 3e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117442
SMART Domains Protein: ENSMUSP00000112686
Gene: ENSMUSG00000016257

DomainStartEndE-ValueType
Pfam:PRELI 1 80 1.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120822
SMART Domains Protein: ENSMUSP00000113522
Gene: ENSMUSG00000016257

DomainStartEndE-ValueType
Pfam:PRELI 1 80 1.8e-27 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano1 A G 7: 144,204,288 (GRCm39) Y308H possibly damaging Het
Ano6 T C 15: 95,811,428 (GRCm39) I176T probably damaging Het
Ap3b2 T C 7: 81,126,931 (GRCm39) E273G probably benign Het
Arid1a A G 4: 133,412,304 (GRCm39) I1245T unknown Het
Ash1l T C 3: 88,892,974 (GRCm39) S1618P possibly damaging Het
Bsdc1 C T 4: 129,355,405 (GRCm39) probably benign Het
Ccni T C 5: 93,335,943 (GRCm39) H152R probably damaging Het
Cdk5 A G 5: 24,625,284 (GRCm39) V208A possibly damaging Het
Cmtm5 G A 14: 55,176,345 (GRCm39) D137N probably damaging Het
Cyp3a41b A G 5: 145,521,448 (GRCm39) M1T probably null Het
Cyp3a44 A T 5: 145,736,171 (GRCm39) V93E probably damaging Het
Dhrs2 A T 14: 55,478,309 (GRCm39) I241F probably benign Het
Dip2c A G 13: 9,673,901 (GRCm39) T1114A probably damaging Het
Dsel T C 1: 111,788,284 (GRCm39) I750M possibly damaging Het
Dync2h1 T C 9: 7,168,515 (GRCm39) K398E probably benign Het
Efcab12 G C 6: 115,787,982 (GRCm39) T660S possibly damaging Het
Ep400 A G 5: 110,831,864 (GRCm39) L2126P unknown Het
Ercc1 T A 7: 19,081,062 (GRCm39) probably benign Het
Flnc G T 6: 29,452,236 (GRCm39) D1687Y probably damaging Het
Frrs1 A T 3: 116,696,070 (GRCm39) I530F possibly damaging Het
Gp5 G T 16: 30,128,222 (GRCm39) L151I probably damaging Het
H2-Q5 A G 17: 35,613,982 (GRCm39) D177G Het
Itgal A T 7: 126,895,533 (GRCm39) probably benign Het
Klhl33 A T 14: 51,129,882 (GRCm39) C277* probably null Het
Lefty1 T A 1: 180,765,318 (GRCm39) C295* probably null Het
Lmo7 A T 14: 102,137,679 (GRCm39) T794S probably benign Het
Mss51 A G 14: 20,537,177 (GRCm39) M97T possibly damaging Het
Mtmr11 C T 3: 96,072,188 (GRCm39) P262S probably damaging Het
Muc15 A T 2: 110,562,212 (GRCm39) N216I probably damaging Het
Muc16 A T 9: 18,549,972 (GRCm39) D5440E probably benign Het
Myt1l A G 12: 29,960,800 (GRCm39) K1038E unknown Het
Naa15 G A 3: 51,367,443 (GRCm39) V539M probably damaging Het
Or10al2 A T 17: 37,983,702 (GRCm39) I263F probably benign Het
Or1e26 T C 11: 73,480,076 (GRCm39) I163V probably benign Het
Or5ac20 G C 16: 59,104,399 (GRCm39) L154V probably benign Het
Parpbp C T 10: 87,947,474 (GRCm39) V387I probably benign Het
Pbxip1 T C 3: 89,352,921 (GRCm39) I189T possibly damaging Het
Prkci T A 3: 31,095,250 (GRCm39) Y111* probably null Het
Prkd2 C G 7: 16,599,682 (GRCm39) T715R probably damaging Het
Rab40c A C 17: 26,102,664 (GRCm39) S262A probably benign Het
Rad51d A G 11: 82,773,798 (GRCm39) L164P probably damaging Het
Rgs22 T A 15: 36,093,106 (GRCm39) K513I probably damaging Het
Rubcn G T 16: 32,646,049 (GRCm39) T828K probably damaging Het
Sdha G A 13: 74,487,179 (GRCm39) T203M probably damaging Het
Sesn3 T C 9: 14,217,562 (GRCm39) probably null Het
Spag8 T A 4: 43,651,471 (GRCm39) T468S probably damaging Het
Spdl1 T C 11: 34,704,478 (GRCm39) K452E possibly damaging Het
Stat5a T C 11: 100,771,308 (GRCm39) F597S Het
Sult1b1 A C 5: 87,662,893 (GRCm39) F269C probably damaging Het
Ubap1 A G 4: 41,379,170 (GRCm39) N128S probably benign Het
Utp20 G A 10: 88,627,604 (GRCm39) Q954* probably null Het
Vmn1r173 T A 7: 23,401,768 (GRCm39) M1K probably null Het
Wdfy1 A G 1: 79,684,017 (GRCm39) S373P probably benign Het
Other mutations in Atp5f1e
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5371:Atp5f1e UTSW 2 174,304,319 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATTTGCCAATTACTGTTTGCCG -3'
(R):5'- TCATGACACCGCCATTCCAG -3'

Sequencing Primer
(F):5'- TCATGCCAGGCGACCTCTAC -3'
(R):5'- AGCTGTTGGTAACCAGCCTC -3'
Posted On 2021-08-02