|Institutional Source||Beutler Lab|
|Gene Name||methylthioadenosine phosphorylase|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6513 (G1)|
|Chromosomal Location||89137122-89181081 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 89148261 bp|
|Amino Acid Change||Threonine to Alanine at position 36 (T36A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061092 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058030]|
|Predicted Effect||possibly damaging
AA Change: T36A
PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: T36A
|Coding Region Coverage||
|Validation Efficiency||98% (62/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele die by E8.5. Heterozygotes display no significant hearing loss up to 6 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mtap||
(F):5'- TTCAGAGTCATTGCCCTTTGG -3'
(R):5'- TTGGCTGATGAGCTTGGAAC -3'
(F):5'- CCTTTGGGGATTGGCAGGAATG -3'
(R):5'- TGATGAGCTTGGAACGCCCC -3'