|Institutional Source||Beutler Lab|
|Gene Name||DnaJ heat shock protein family (Hsp40) member C24|
|Synonyms||Zcsl3, 1700030A21Rik, MmDjC7, 2610027M02Rik, Dph4|
|Is this an essential gene?||Possibly non essential (E-score: 0.271)|
|Stock #||R7861 (G1)|
|Chromosomal Location||105966709-106003549 bp(-) (GRCm38)|
|Type of Mutation||start codon destroyed|
|DNA Base Change (assembly)||A to T at 106002035 bp|
|Amino Acid Change||Methionine to Lysine at position 1 (M1K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099615 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102555]|
|Predicted Effect||probably null
AA Change: M1K
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: M1K
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diphthamide is a unique posttranslationally modified histidine found only in translation elongation factor-2 (EEF2; MIM 130610). This modification is conserved from archaebacteria to humans and serves as the target for ADP-ribosylation and inactivation of EEF2 by diphtheria toxin (DT) and Pseudomonas exotoxin A. DPH4 is 1 of several enzymes involved in synthesis of diphthamide in EEF2 (Liu et al., 2004 [PubMed 15485916]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation are retarded in growth and development, and generally die before birth; those that survive long enough to initiate digit formation show a distinctive polydactyly phenotype on their hind limbs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dnajc24||
(F):5'- GCTTAAATTTCTGGTCGCACTG -3'
(R):5'- ATCACCCAGGCTCATTATCAATTTC -3'
(F):5'- TTTCTGGTCGCACTGAAAAAC -3'
(R):5'- ATCCTTGTACATGGCATTTATGGGAC -3'