|Institutional Source||Beutler Lab|
|Gene Name||collagen, type III, alpha 1|
|Is this an essential gene?||Probably essential (E-score: 0.847)|
|Stock #||R6903 (G1)|
|Chromosomal Location||45311538-45349706 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 45331988 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 436 (N436D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000085192 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087883]|
|Predicted Effect||probably damaging
AA Change: N436D
PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: N436D
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0576|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named "tight skin 2" exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col3a1||
(F):5'- ACGAGGTCCTTCAGTAAGTTCG -3'
(R):5'- CCCTTAGGTCCTGGAATTCCTG -3'
(F):5'- CCTTCAATGCCTGGAAGTTTATG -3'
(R):5'- CCTGGAATTCCTGGGGAAC -3'