Incidental Mutation 'R9159:Yme1l1'
ID 695547
Institutional Source Beutler Lab
Gene Symbol Yme1l1
Ensembl Gene ENSMUSG00000026775
Gene Name YME1-like 1 (S. cerevisiae)
Synonyms Ftsh, ATP-dependent metalloprotease FtsH1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R9159 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 23046517-23089272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23063058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 210 (F210I)
Ref Sequence ENSEMBL: ENSMUSP00000028117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028117]
AlphaFold O88967
Predicted Effect probably damaging
Transcript: ENSMUST00000028117
AA Change: F210I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: F210I

DomainStartEndE-ValueType
AAA 313 450 4.77e-23 SMART
Pfam:Peptidase_M41 508 706 5.8e-77 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (72/74)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of yeast mitochondrial AAA metalloprotease, Yme1p. It is localized in the mitochondria and can functionally complement a yme1 disruptant yeast strain. It is proposed that this gene plays a role in mitochondrial protein metabolism and could be involved in mitochondrial pathologies. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous null embryos die prior to E13.5, and show a developmental delay from E8.5 to E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,394,238 (GRCm39) M179K probably benign Het
A030003K21Rik A G 1: 82,920,787 (GRCm39) V86A unknown Het
AC133488.1 A T 16: 18,440,075 (GRCm39) V363E probably benign Het
Adamts16 A G 13: 70,901,408 (GRCm39) S890P probably benign Het
Adgrf4 A G 17: 42,973,293 (GRCm39) V685A probably benign Het
Aff1 T A 5: 103,990,131 (GRCm39) M867K possibly damaging Het
Apba3 T A 10: 81,106,867 (GRCm39) S225T Het
Aplp1 T A 7: 30,141,775 (GRCm39) T228S probably benign Het
Arhgap18 A G 10: 26,730,886 (GRCm39) D188G probably benign Het
BC024063 T A 10: 81,944,906 (GRCm39) S175R possibly damaging Het
Bloc1s6 T G 2: 122,580,548 (GRCm39) S2R probably damaging Het
Cd209b A G 8: 3,974,245 (GRCm39) I119T possibly damaging Het
Cdk8 T C 5: 146,168,549 (GRCm39) V16A probably damaging Het
Cep295 A G 9: 15,252,904 (GRCm39) M308T probably benign Het
Cfap53 T A 18: 74,416,272 (GRCm39) Y2N probably damaging Het
Col28a1 T A 6: 8,014,993 (GRCm39) D804V probably damaging Het
Csta3 G A 16: 36,038,069 (GRCm39) V69I probably benign Het
Cyp2c40 A T 19: 39,762,317 (GRCm39) D443E probably damaging Het
Cyp2d9 A G 15: 82,338,572 (GRCm39) D202G possibly damaging Het
Dchs1 G A 7: 105,415,126 (GRCm39) A686V probably benign Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Eva1a A G 6: 82,068,855 (GRCm39) R61G possibly damaging Het
Exoc6 T A 19: 37,597,478 (GRCm39) D626E probably benign Het
Exosc10 T C 4: 148,663,916 (GRCm39) probably null Het
Firrm A G 1: 163,814,514 (GRCm39) I143T probably damaging Het
Gm12888 T C 4: 121,176,600 (GRCm39) Q67R probably null Het
Gm16485 A G 9: 8,972,319 (GRCm39) S62G unknown Het
Gng4 T C 13: 13,999,896 (GRCm39) I55T probably damaging Het
Gpihbp1 A G 15: 75,469,830 (GRCm39) S182G possibly damaging Het
Hax1 T C 3: 89,903,127 (GRCm39) R251G probably damaging Het
Igf2bp2 G A 16: 21,900,502 (GRCm39) T213I probably damaging Het
Il23a T A 10: 128,133,427 (GRCm39) K66* probably null Het
Itga2 A T 13: 115,014,298 (GRCm39) L210* probably null Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Matr3 T A 18: 35,712,355 (GRCm39) M389K possibly damaging Het
Mettl15 T C 2: 108,923,444 (GRCm39) D326G probably damaging Het
Mta1 T A 12: 113,100,025 (GRCm39) V645E probably damaging Het
Muc5ac T C 7: 141,363,529 (GRCm39) I2280T unknown Het
Naa15 T A 3: 51,358,802 (GRCm39) N362K probably benign Het
Necab2 T C 8: 120,189,303 (GRCm39) Y158H probably damaging Het
Nphp3 T A 9: 103,897,980 (GRCm39) L523Q probably damaging Het
Nphs1 T G 7: 30,165,026 (GRCm39) F540V possibly damaging Het
Or2av9 A G 11: 58,381,350 (GRCm39) V77A probably damaging Het
Or2k2 A G 4: 58,785,320 (GRCm39) I134T probably benign Het
Or5p55 A T 7: 107,567,524 (GRCm39) R307* probably null Het
Ppa1 A T 10: 61,496,784 (GRCm39) I91F probably damaging Het
Prdm6 C A 18: 53,598,019 (GRCm39) A127D unknown Het
Prdm8 T C 5: 98,334,175 (GRCm39) F581L probably damaging Het
Rbbp6 T C 7: 122,589,428 (GRCm39) I372T probably damaging Het
Rnf144b A G 13: 47,396,348 (GRCm39) I228M probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Setd2 T C 9: 110,374,385 (GRCm39) probably null Het
Sez6l T C 5: 112,613,824 (GRCm39) H441R possibly damaging Het
Shbg G A 11: 69,506,430 (GRCm39) L327F probably benign Het
Sik3 C T 9: 46,123,539 (GRCm39) Q1113* probably null Het
Smad2 T A 18: 76,395,573 (GRCm39) I4N possibly damaging Het
Spata31h1 G A 10: 82,118,524 (GRCm39) R4829* probably null Het
Sult2b1 T A 7: 45,391,534 (GRCm39) E84V probably damaging Het
Tbc1d8 A G 1: 39,444,474 (GRCm39) Y162H Het
Tedc2 A G 17: 24,436,705 (GRCm39) L308P probably damaging Het
Tmc5 T C 7: 118,233,264 (GRCm39) V26A probably benign Het
Tmem120b T A 5: 123,242,566 (GRCm39) N181K possibly damaging Het
Tmem229b T G 12: 79,011,448 (GRCm39) N161T possibly damaging Het
Tmem43 A C 6: 91,459,291 (GRCm39) D254A probably benign Het
Trpv6 T C 6: 41,603,074 (GRCm39) D266G probably benign Het
Tspan9 A G 6: 127,943,717 (GRCm39) I102T possibly damaging Het
Ung A G 5: 114,270,166 (GRCm39) probably benign Het
Upp2 C T 2: 58,667,996 (GRCm39) H230Y probably damaging Het
Vmn1r184 G A 7: 25,966,545 (GRCm39) S97N possibly damaging Het
Vmn2r73 A T 7: 85,521,931 (GRCm39) V136E possibly damaging Het
Wdr20rt T C 12: 65,272,918 (GRCm39) V127A probably damaging Het
Yrdc T C 4: 124,747,811 (GRCm39) probably null Het
Zfhx4 G T 3: 5,464,312 (GRCm39) R1515L probably damaging Het
Zfhx4 C T 3: 5,466,217 (GRCm39) P2150L probably damaging Het
Zfp267 C A 3: 36,219,902 (GRCm39) H642N possibly damaging Het
Zfp988 C T 4: 147,416,450 (GRCm39) P295S possibly damaging Het
Other mutations in Yme1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Yme1l1 APN 2 23,082,512 (GRCm39) missense probably benign 0.00
IGL01764:Yme1l1 APN 2 23,052,556 (GRCm39) missense probably benign 0.00
IGL03289:Yme1l1 APN 2 23,050,280 (GRCm39) missense probably benign
R0043:Yme1l1 UTSW 2 23,077,815 (GRCm39) missense probably damaging 0.97
R0540:Yme1l1 UTSW 2 23,082,527 (GRCm39) missense possibly damaging 0.68
R0583:Yme1l1 UTSW 2 23,076,262 (GRCm39) missense probably damaging 1.00
R0661:Yme1l1 UTSW 2 23,081,054 (GRCm39) missense probably damaging 0.96
R0673:Yme1l1 UTSW 2 23,058,300 (GRCm39) missense probably benign 0.03
R2154:Yme1l1 UTSW 2 23,052,520 (GRCm39) missense probably damaging 0.99
R2241:Yme1l1 UTSW 2 23,086,912 (GRCm39) nonsense probably null
R2270:Yme1l1 UTSW 2 23,065,232 (GRCm39) missense possibly damaging 0.53
R2345:Yme1l1 UTSW 2 23,084,798 (GRCm39) missense probably damaging 1.00
R3837:Yme1l1 UTSW 2 23,081,092 (GRCm39) missense possibly damaging 0.69
R4344:Yme1l1 UTSW 2 23,063,073 (GRCm39) missense probably benign 0.02
R4368:Yme1l1 UTSW 2 23,050,223 (GRCm39) missense possibly damaging 0.81
R4412:Yme1l1 UTSW 2 23,065,199 (GRCm39) missense probably damaging 1.00
R4470:Yme1l1 UTSW 2 23,076,344 (GRCm39) critical splice donor site probably null
R4472:Yme1l1 UTSW 2 23,076,344 (GRCm39) critical splice donor site probably null
R4934:Yme1l1 UTSW 2 23,058,333 (GRCm39) nonsense probably null
R5033:Yme1l1 UTSW 2 23,084,759 (GRCm39) missense probably damaging 1.00
R5388:Yme1l1 UTSW 2 23,052,569 (GRCm39) missense probably benign 0.01
R5389:Yme1l1 UTSW 2 23,083,246 (GRCm39) missense probably damaging 1.00
R5943:Yme1l1 UTSW 2 23,058,342 (GRCm39) missense probably damaging 0.96
R5947:Yme1l1 UTSW 2 23,085,318 (GRCm39) intron probably benign
R6243:Yme1l1 UTSW 2 23,083,184 (GRCm39) missense probably benign 0.00
R6724:Yme1l1 UTSW 2 23,084,774 (GRCm39) missense probably damaging 1.00
R6891:Yme1l1 UTSW 2 23,085,401 (GRCm39) missense probably damaging 0.99
R7016:Yme1l1 UTSW 2 23,076,367 (GRCm39) splice site probably null
R7565:Yme1l1 UTSW 2 23,050,232 (GRCm39) missense possibly damaging 0.88
R7589:Yme1l1 UTSW 2 23,050,274 (GRCm39) missense probably benign 0.01
R7751:Yme1l1 UTSW 2 23,077,856 (GRCm39) critical splice donor site probably null
R7871:Yme1l1 UTSW 2 23,071,077 (GRCm39) missense probably damaging 1.00
R7909:Yme1l1 UTSW 2 23,084,769 (GRCm39) missense probably benign 0.00
R8203:Yme1l1 UTSW 2 23,054,538 (GRCm39) missense probably benign 0.00
R8329:Yme1l1 UTSW 2 23,054,597 (GRCm39) nonsense probably null
R8474:Yme1l1 UTSW 2 23,052,584 (GRCm39) missense probably benign
R8746:Yme1l1 UTSW 2 23,052,543 (GRCm39) missense probably benign 0.05
R9154:Yme1l1 UTSW 2 23,077,815 (GRCm39) missense probably damaging 1.00
R9361:Yme1l1 UTSW 2 23,081,063 (GRCm39) missense possibly damaging 0.93
Z1176:Yme1l1 UTSW 2 23,083,196 (GRCm39) missense probably damaging 0.98
Z1176:Yme1l1 UTSW 2 23,052,529 (GRCm39) missense probably damaging 0.96
Z1177:Yme1l1 UTSW 2 23,076,889 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCCGTACATATTGCTTCTAGC -3'
(R):5'- TTCACTCGCATCACACACTG -3'

Sequencing Primer
(F):5'- ATGCCTATTTGTTTAATTTTGTCCAG -3'
(R):5'- GGAGAGGACTAAGCATCTTTC -3'
Posted On 2022-01-20