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|Institutional Source||Beutler Lab|
|Gene Name||YME1-like 1 (S. cerevisiae)|
|Synonyms||ATP-dependent metalloprotease FtsH1, Ftsh|
|Is this an essential gene?||Probably essential (E-score: 0.964)|
|Stock #||R0661 (G1)|
|Chromosomal Location||23156369-23199260 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 23191042 bp|
|Amino Acid Change||Methionine to Lysine at position 442 (M442K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028117 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028117]|
|Predicted Effect||probably damaging
AA Change: M442K
PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: M442K
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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||
|Other mutations in Yme1l1||
(F):5'- GTGAGCCTTGACTTATGACTTCTGACC -3'
(R):5'- CCCCAAACCAAATTTCCTTTGGAATCG -3'
(F):5'- GACTTCTGACCTTCTGAGGGAAC -3'
(R):5'- acacacacacacacacacc -3'