|Institutional Source||Beutler Lab|
|Gene Name||collagen, type XI, alpha 1|
|Is this an essential gene?||Probably essential (E-score: 0.880)|
|Stock #||R5792 (G1)|
|Chromosomal Location||114030540-114220718 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 114131593 bp|
|Amino Acid Change||Aspartic acid to Valine at position 25 (D25V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148798 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092155] [ENSMUST00000211802]|
AA Change: D808V
AA Change: D808V
|Predicted Effect||probably damaging
AA Change: D25V
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Meta Mutation Damage Score||0.2582|
|Coding Region Coverage||
|Validation Efficiency||95% (56/59)|
FUNCTION: This gene encodes the alpha-1 subunit of type XI collagen, one of the low abundance fibrillar collagens that is essential for normal embryonic skeletal development and the cohesive properties of cartilage. The encoded protein, in association with the alpha-1 subunit of type II collagen, forms a heterotrimeric type XI procollagen that undergoes proteolytic processing. Mice lacking the encoded protein develop severe chondrodysplasia and die at birth. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col11a1||
(F):5'- CTTTCTCAAAAGTAGGCAAAACAGC -3'
(R):5'- GTCTCTAGTGATCACAAAGCAATCTG -3'
(F):5'- AGCAAACGAAACATAATGCAATG -3'
(R):5'- GATCACAAAGCAATCTGTATTCTACG -3'