Incidental Mutation 'R0661:Yme1l1'
ID 61823
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 038846-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R0661 (G1)
Quality Score 126
Status Not validated
Chromosome 2
Chromosomal Location 23046517-23089272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23081054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 442 (M442K)
Ref Sequence ENSEMBL: ENSMUSP00000028117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028117]
AlphaFold O88967
Predicted Effect probably damaging
Transcript: ENSMUST00000028117
AA Change: M442K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: M442K

DomainStartEndE-ValueType
AAA 313 450 4.77e-23 SMART
Pfam:Peptidase_M41 508 706 5.8e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134342
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1b T A 3: 20,370,163 (GRCm39) T148S possibly damaging Het
Anks3 A G 16: 4,766,198 (GRCm39) F124L probably damaging Het
Ar T A X: 97,194,171 (GRCm39) Y262N probably damaging Het
Asxl1 T A 2: 153,242,644 (GRCm39) S1065T possibly damaging Het
Brip1 A T 11: 86,001,189 (GRCm39) I749N possibly damaging Het
C1ra T A 6: 124,499,336 (GRCm39) H507Q probably benign Het
Cdk9 G A 2: 32,599,832 (GRCm39) T135I probably damaging Het
Col1a1 A G 11: 94,840,215 (GRCm39) T1088A unknown Het
Cpne2 T C 8: 95,282,667 (GRCm39) I283T possibly damaging Het
Dcaf17 T C 2: 70,918,779 (GRCm39) L451P probably damaging Het
Dhx57 C T 17: 80,576,293 (GRCm39) C599Y probably damaging Het
Drd1 T A 13: 54,207,057 (GRCm39) N379Y possibly damaging Het
Fsip2 A G 2: 82,816,513 (GRCm39) D4082G possibly damaging Het
Grin2a G T 16: 9,810,336 (GRCm39) P21Q probably damaging Het
Heyl G T 4: 123,139,824 (GRCm39) V128F probably damaging Het
Hoxd12 A G 2: 74,506,236 (GRCm39) E216G probably damaging Het
Inpp4b C A 8: 82,468,091 (GRCm39) A18E possibly damaging Het
Invs G A 4: 48,421,861 (GRCm39) R831H probably benign Het
Lrrk2 T C 15: 91,671,219 (GRCm39) V2000A probably damaging Het
Msh3 T C 13: 92,481,604 (GRCm39) N303D possibly damaging Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or5an9 T C 19: 12,187,068 (GRCm39) L46P probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Pcdh18 A C 3: 49,707,767 (GRCm39) S902R possibly damaging Het
Prdm15 A T 16: 97,630,882 (GRCm39) V190E probably benign Het
Ranbp2 T G 10: 58,314,555 (GRCm39) S1758R probably benign Het
Rimbp2 A G 5: 128,863,774 (GRCm39) V738A probably benign Het
Rtl5 T C X: 101,114,056 (GRCm39) H138R possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc26a6 T C 9: 108,736,312 (GRCm39) probably null Het
Slf1 A G 13: 77,231,715 (GRCm39) W555R probably benign Het
Spx A G 6: 142,359,565 (GRCm39) S5G possibly damaging Het
Tcp1 T C 17: 13,142,200 (GRCm39) V398A probably benign Het
Tm6sf1 G A 7: 81,515,093 (GRCm39) probably null Het
Tsbp1 A T 17: 34,678,887 (GRCm39) I217F possibly damaging Het
Ufsp2 T A 8: 46,432,270 (GRCm39) M1K probably null Het
Usf1 G A 1: 171,245,067 (GRCm39) R196Q probably damaging Het
Vmn2r75 G A 7: 85,814,866 (GRCm39) A209V probably benign Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A 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
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
R9159:Yme1l1 UTSW 2 23,063,058 (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'- GTGAGCCTTGACTTATGACTTCTGACC -3'
(R):5'- CCCCAAACCAAATTTCCTTTGGAATCG -3'

Sequencing Primer
(F):5'- GACTTCTGACCTTCTGAGGGAAC -3'
(R):5'- acacacacacacacacacc -3'
Posted On 2013-07-30