|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: 0.287)|
|Stock #||R7223 (G1)|
|Chromosomal Location||105966709-106003549 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 106001966 bp|
|Amino Acid Change||Serine to Leucine at position 24 (S24L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099615 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102555]|
|Predicted Effect||possibly damaging
AA Change: S24L
PolyPhen 2 Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: S24L
AA Change: S14L
|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'- CAGGGGATTCTAACTCAGTCAC -3'
(R):5'- TTGGGCTTGCAATTTACTCAAG -3'
(F):5'- GGGATTCTAACTCAGTCACTACCATG -3'
(R):5'- CTCAAGTAGTAAGGAATCTAGGAGG -3'