|Institutional Source||Beutler Lab|
|Gene Name||dickkopf WNT signaling pathway inhibitor 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5664 (G1)|
|Chromosomal Location||30545863-30549665 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 30548789 bp|
|Amino Acid Change||Tyrosine to Phenylalanine at position 135 (Y135F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025803 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025803]|
|Predicted Effect||probably benign
AA Change: Y135F
PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: Y135F
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the dickkopf family. It is a secreted protein with two cysteine rich regions and is involved in embryonic development through its inhibition of the WNT signaling pathway. Elevated levels of DKK1 in bone marrow plasma and peripheral blood is associated with the presence of osteolytic bone lesions in patients with multiple myeloma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation die at birth exhibiting absence of anterior head structures and forelimb malformations ranging from fusion of the distal-most limb elements to the appearance of ectopic preaxial and postaxial digits. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dkk1||
(F):5'- TTGTTAGATCACAGAGGGAGGC -3'
(R):5'- GCTTGAGTTGCTCACCAGTC -3'
(F):5'- GATAAACTTTCAAGTGCTCAAACAC -3'
(R):5'- AGTTGCTCACCAGTCCGCTC -3'