|Institutional Source||Beutler Lab|
|Gene Name||ganglioside-induced differentiation-associated-protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0992 (G1)|
|Chromosomal Location||17145362-17164271 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 17147105 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 96 (Y96C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026879 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026879] [ENSMUST00000189736]|
|Predicted Effect||probably damaging
AA Change: Y96C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y96C
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice homozygous for a null allele develop motor deficits and a peripheral neuropathy with loss of motor neurons and abnormal neuromuscular junctions. Cultured motor neurons show large and abnormal mitochondria, reduced axon length, changes in the ER cisternae, and altered calcium ion homeostasis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gdap1||
(F):5'- AGGTGAGAACAGCAGTAACCCCTG -3'
(R):5'- TCAGCAGAAAGAAGCATTTGCACAC -3'
(F):5'- AGTGAGCACAATGAGCCTTG -3'
(R):5'- GACAAATGGTCCTTCTCTAGCATTG -3'