|Institutional Source||Beutler Lab|
|Gene Name||laminin, alpha 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4259 (G1)|
|Chromosomal Location||67697265-67822645 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 67752418 bp|
|Amino Acid Change||Serine to Proline at position 599 (S599P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043957 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035471]|
|Predicted Effect||possibly damaging
AA Change: S599P
PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: S599P
|Meta Mutation Damage Score||0.4815|
|Coding Region Coverage||
|Validation Efficiency||98% (40/41)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation with impaired formation of Reichert's membrane. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lama1||
(F):5'- TGTTTACCTTGGAGACTTGTAGAAG -3'
(R):5'- GGTGGCAGTTGACTGAACTC -3'
(F):5'- TCTTTCTCCAAGTGTCAAAGATTTC -3'
(R):5'- GGCAGTTGACTGAACTCTTTATTTC -3'