|Institutional Source||Beutler Lab|
|Gene Name||integrin beta 8|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1689 (G1)|
|Chromosomal Location||119158022-119238802 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 119170820 bp|
|Amino Acid Change||Glutamine to Proline at position 504 (Q504P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026360 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026360]|
|Predicted Effect||probably benign
AA Change: Q504P
PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: Q504P
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene either die before E11.5 as a result of circulatory abnormalities in the placenta or die within the first for days after birth and display intracerebral hemorrhaging. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Itgb8||
(F):5'- CTGCCTGTGTATATCAACTCACCAGC -3'
(R):5'- ACCTAAGGTGACAGACACCTGAGGAC -3'
(F):5'- GTATATCAACTCACCAGCACACAC -3'
(R):5'- CATGGTGATTTACAGGCCATTAGC -3'