|Institutional Source||Beutler Lab|
|Gene Name||MALT1 paracaspase|
|Is this an essential gene?||Possibly non essential (E-score: 0.418)|
|Stock #||R7307 (G1)|
|Chromosomal Location||65430962-65478823 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 65451569 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 325 (H325Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048376 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049248] [ENSMUST00000224056]|
AA Change: H325Q
PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: H325Q
AA Change: H336Q
PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene has been found to be recurrently rearranged in chromosomal translocation with two other genes - baculoviral IAP repeat-containing protein 3 (also known as apoptosis inhibitor 2) and immunoglobulin heavy chain locus - in mucosa-associated lymphoid tissue lymphomas. The protein encoded by this gene may play a role in NF-kappaB activation. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene disrupts normal B cell development and leads to impaired cytokine production and T cell and B cell proliferative responses after antigen receptor engagement due to failure of NF-kappaB activation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Malt1||
(F):5'- GTCCTAAGTGTTCTTACCTGTTCAG -3'
(R):5'- TTGGCTATATTATTGGCCCAAGC -3'
(F):5'- CAGGATTTGTATGGCTTCACTTAAC -3'
(R):5'- GGCCCAAGCATTGATATTTTATTG -3'