|Institutional Source||Beutler Lab|
|Gene Name||leucine-rich repeat, immunoglobulin-like and transmembrane domains 3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6949 (G1)|
|Chromosomal Location||129787881-129804030 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 129789285 bp|
|Amino Acid Change||Threonine to Isoleucine at position 351 (T351I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000140184 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000179187] [ENSMUST00000185462]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: T351I
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: T351I
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele show a selective absence of the ERG b-wave with a normal a-wave component under scotopic conditions, as well as variable ERG responses with larger a-wave amplitudes, shorter b-wave amplitudes, and longer implicit times of both waves under photopic conditions. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrit3||
(F):5'- ACACTGGTGGTTGCAGAAGC -3'
(R):5'- TGGCAGGTCCTAGACTTCATG -3'
(F):5'- CAGCTGAGAAGATGGGAGGC -3'
(R):5'- AGGTCCTAGACTTCATGTGTACACG -3'