|Institutional Source||Beutler Lab|
|Gene Name||collagen, type XIX, alpha 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7725 (G1)|
|Chromosomal Location||24261890-24587472 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 24270444 bp|
|Amino Acid Change||Serine to Threonine at position 1043 (S1043T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000110899 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115244]|
|Predicted Effect||possibly damaging
AA Change: S1043T
PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: S1043T
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XIX collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Although the function of this collagen is not known, other members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. The transcript produced from this gene has an unusually large 3' UTR which has not been completely sequenced. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality resulting from impaired swallowing, abnormal esophageal muscle development, and impaired muscle relaxation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Col19a1||
(F):5'- TGAACTTAGAACAGCAGGTATATCC -3'
(R):5'- ACAGGCAGACCAGTTGATATAG -3'
(F):5'- AGTCCACAACAAGCCATTTTATAC -3'
(R):5'- GCAGACCAGTTGATATAGAATATGTG -3'