Incidental Mutation 'IGL00900:Mtap'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtap
Ensembl Gene ENSMUSG00000062937
Gene Namemethylthioadenosine phosphorylase
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00900
Quality Score
Chromosomal Location89137122-89181081 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 89172357 bp
Amino Acid Change Tyrosine to Stop codon at position 221 (Y221*)
Ref Sequence ENSEMBL: ENSMUSP00000061092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058030]
Predicted Effect probably null
Transcript: ENSMUST00000058030
AA Change: Y221*
SMART Domains Protein: ENSMUSP00000061092
Gene: ENSMUSG00000062937
AA Change: Y221*

Pfam:PNP_UDP_1 11 256 3.6e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204571
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpa1 A G 15: 103,243,739 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Mtap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Mtap APN 4 89171223 missense probably damaging 1.00
R0003:Mtap UTSW 4 89151998 splice site probably benign
R1061:Mtap UTSW 4 89156584 missense probably benign 0.15
R1156:Mtap UTSW 4 89171222 missense probably benign 0.41
R1692:Mtap UTSW 4 89176914 missense probably benign 0.00
R4585:Mtap UTSW 4 89172274 missense probably benign
R6513:Mtap UTSW 4 89148261 missense possibly damaging 0.68
R7424:Mtap UTSW 4 89179462 splice site probably null
Posted On2013-04-17