|Institutional Source||Beutler Lab|
|Gene Name||collagen, type I, alpha 1|
|Synonyms||Cola1, Mov-13, Col1a-1, Cola-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8219 (G1)|
|Chromosomal Location||94936224-94953042 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 94943358 bp|
|Amino Acid Change||Arginine to Cysteine at position 500 (R500C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001547 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001547]|
|Predicted Effect||probably damaging
AA Change: R500C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R500C
|Meta Mutation Damage Score||0.8165|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-2 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice lacking the encoded protein die in utero caused by the rupture of a major blood vessel. Transgenic mice expressing significantly lower levels of this gene exhibit morphological and functional defects in mineralized and non-mineralized connective tissue and, progressive loss of hearing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutations in this locus cause variable phenotype, from embryonic lethal to viable/fertile with altered fibrillogenesis. Homozygotes can show impaired bone formation and fragility, osteoporosis, dermal fibrosis, impaired uterine postpartum involution, andaortic dissection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col1a1||
(F):5'- GTTGACATCCACCTACGCTC -3'
(R):5'- GTTTTGCCATCAGGACCAGG -3'
(F):5'- TTGCAACCACGGCTGTGTC -3'
(R):5'- ACTGCCAGTGAGACCCTAG -3'