|Institutional Source||Beutler Lab|
|Gene Name||membrane-spanning 4-domains, subfamily A, member 1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||IGL03097 (G1)|
|Chromosomal Location||11249675-11266241 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 11253192 bp (GRCm38)|
|Amino Acid Change||Threonine to Asparagine at position 215 (T215N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000126422 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169159]|
AA Change: T215N
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: T215N
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||90% (46/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus affects B cell physiology but does not impair B cell development or overall immune function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ms4a1||
(F):5'- ATATTTGCTGCCACTGCTGG -3'
(R):5'- GCACTGAACTGAACTGTTGC -3'
(F):5'- GCTGCCACTGCTGGTGTTTTC -3'
(R):5'- ACTGAACTGAACTGTTGCTCTCTGAG -3'