|Institutional Source||Beutler Lab|
|Gene Name||leucine zipper-EF-hand containing transmembrane protein 1|
|Is this an essential gene?||Probably essential (E-score: 0.961)|
|Stock #||R9028 (G1)|
|Chromosomal Location||33739673-33782817 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 33752503 bp (GRCm38)|
|Amino Acid Change||Glutamine to Lysine at position 396 (Q396K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005431 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005431]|
AA Change: Q396K
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: Q396K
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous deletion of this gene causes embryonic lethality prior to E6.5 while ~50% of heterozygotes die before E13.5. Surviving heterozygous mice show altered glucose metabolism, impaired control of brain ATP levels, and increased susceptibility to kainic acid-induced seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Letm1||
(F):5'- GCCAGATATGCATTTACTTGGG -3'
(R):5'- CCCAGTTGTGTTAACATCAGTGTC -3'
(F):5'- GAGGCTTTTCTAGTTTGAAGACCACC -3'
(R):5'- ACATCAGTGTCATAGATCTGGAATG -3'