|Institutional Source||Beutler Lab|
|Gene Name||collagen, type IV, alpha 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3772 (G1)|
|Chromosomal Location||141165403-141474076 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 141172200 bp|
|Amino Acid Change||Glycine to Cysteine at position 1416 (G1416C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000098765 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000101205]|
|Predicted Effect||probably damaging
AA Change: G1416C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G1416C
|Meta Mutation Damage Score||0.5992|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
PHENOTYPE: Male mice hemizygous for a knock-out allele are viable, fertile and healthy with no apparent defects in the topology of neuromuscular junctions in the diaphragm muscle. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col4a6||
(F):5'- GAGACAAGAACTCAGCCTGTG -3'
(R):5'- CCATTTCTAAAGAGTGTTTGGAGC -3'
(F):5'- GAGCGACCTCATAGTGGCAAATTTAC -3'
(R):5'- TCTAAAGAGTGTTTGGAGCTAGAG -3'