|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5443 (G1)|
|Chromosomal Location||73199460-73224511 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 73222781 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 340 (G340D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000006105 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000006105] [ENSMUST00000131927]|
|Predicted Effect||possibly damaging
AA Change: G340D
PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: G340D
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3501|
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has weak homology to several carbohydrate kinases, a class of proteins involved in the phosphorylation of sugars as they enter a cell, inhibiting return across the cell membrane. Sequence variation between this novel gene and known carbohydrate kinases suggests the possibility of a different substrate, cofactor or changes in kinetic properties distinguishing it from other carbohydrate kinases. The gene resides in a region commonly deleted in cystinosis patients, suggesting a role as a modifier for the cystinosis phenotype. The genomic region is also rich in Alu repetitive sequences, frequently involved in chromosomal rearrangements. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Shpk||
(F):5'- ACAAATGACTGTGATCTAGAGCAG -3'
(R):5'- GTGCAGGTTCTGAACGATGC -3'
(F):5'- CTGTGATCTAGAGCAGAGTCTAGCC -3'
(R):5'- CAGGTTCTGAACGATGCCTCTG -3'