Incidental Mutation 'R4412:Yme1l1'
ID 327951
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 041135-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R4412 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 23046517-23089272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23065199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 236 (R236H)
Ref Sequence ENSEMBL: ENSMUSP00000028117 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028117]
AlphaFold O88967
Predicted Effect probably damaging
Transcript: ENSMUST00000028117
AA Change: R236H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028117
Gene: ENSMUSG00000026775
AA Change: R236H

DomainStartEndE-ValueType
AAA 313 450 4.77e-23 SMART
Pfam:Peptidase_M41 508 706 5.8e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148616
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 T C 15: 74,449,302 (GRCm39) probably benign Het
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Alpl A G 4: 137,485,939 (GRCm39) I2T possibly damaging Het
Chdh G T 14: 29,753,672 (GRCm39) G194C probably damaging Het
Cp A T 3: 20,020,517 (GRCm39) D170V probably damaging Het
Cpne9 A G 6: 113,266,962 (GRCm39) K132E possibly damaging Het
Cyp2b9 T G 7: 25,897,868 (GRCm39) L224R probably damaging Het
Dmxl1 A G 18: 49,981,828 (GRCm39) N153S probably benign Het
Dnah17 T C 11: 117,964,509 (GRCm39) Y2423C probably damaging Het
Dnajc14 G T 10: 128,642,074 (GRCm39) probably benign Het
Eipr1 A T 12: 28,909,372 (GRCm39) D213V probably damaging Het
Fat1 T C 8: 45,476,636 (GRCm39) V1894A probably damaging Het
Flrt2 G A 12: 95,747,047 (GRCm39) V462I probably benign Het
Gigyf2 A G 1: 87,364,582 (GRCm39) E954G probably damaging Het
Glis1 A G 4: 107,491,915 (GRCm39) H593R probably damaging Het
Gpr21 C G 2: 37,407,444 (GRCm39) probably benign Het
Gsdmc3 A G 15: 63,738,645 (GRCm39) M139T probably benign Het
Hydin C T 8: 111,142,368 (GRCm39) T749I probably damaging Het
Ilf3 C T 9: 21,310,856 (GRCm39) P620S possibly damaging Het
Khdc3 A G 9: 73,010,156 (GRCm39) T71A possibly damaging Het
Ms4a12 T C 19: 11,207,807 (GRCm39) N33S probably benign Het
Nisch A G 14: 30,908,615 (GRCm39) probably benign Het
Npr2 G A 4: 43,644,150 (GRCm39) C593Y probably damaging Het
Npr3 G C 15: 11,905,235 (GRCm39) T164R probably benign Het
Or4c1 A G 2: 89,133,684 (GRCm39) I84T probably benign Het
Palld A G 8: 62,140,406 (GRCm39) Y534H probably damaging Het
Pcdhb10 TC T 18: 37,547,194 (GRCm39) probably null Het
Plekhg3 A C 12: 76,624,538 (GRCm39) T1127P probably damaging Het
Podnl1 A T 8: 84,857,294 (GRCm39) H301L probably benign Het
Ripk2 A G 4: 16,124,511 (GRCm39) V399A probably benign Het
Rpp30 T A 19: 36,077,655 (GRCm39) N172K possibly damaging Het
Sin3b C T 8: 73,466,407 (GRCm39) A291V probably benign Het
Slc12a6 A T 2: 112,166,233 (GRCm39) Q204L possibly damaging Het
Snx9 C T 17: 5,958,669 (GRCm39) T249M probably damaging Het
Sohlh2 C A 3: 55,104,423 (GRCm39) T264K probably damaging Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Syne2 T A 12: 76,152,834 (GRCm39) H6674Q probably benign Het
Tyw1 T A 5: 130,364,073 (GRCm39) probably null Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably 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
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'- TTGTTCTCCTGAGGATTCAACG -3'
(R):5'- AACTAGCCACAGAAGTAGAATTTTG -3'

Sequencing Primer
(F):5'- ATTCAACGTAGGGCTTCAGGC -3'
(R):5'- GTCAAACTAAATGAACCTCACTTCTC -3'
Posted On 2015-07-07