|Institutional Source||Beutler Lab|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1052 (G1)|
|Chromosomal Location||150952607-150993817 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 150982520 bp|
|Amino Acid Change||Valine to Phenylalanine at position 452 (V452F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077899 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078856]|
|Predicted Effect||probably damaging
AA Change: V452F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V452F
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kl||
(F):5'- CCTCTGGGAATAAGAAACTCCACTGTG -3'
(R):5'- GCTTTTGGTAGAACAAGGCCGAAGAC -3'
(F):5'- atgcccacagaggccag -3'
(R):5'- GAAGACTTTGGCAACAGCTC -3'