Incidental Mutation 'IGL01330:Mtap'
ID74485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtap
Ensembl Gene ENSMUSG00000062937
Gene Namemethylthioadenosine phosphorylase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01330
Quality Score
Status
Chromosome4
Chromosomal Location89137122-89181081 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 89171223 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 148 (T148K)
Ref Sequence ENSEMBL: ENSMUSP00000061092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058030]
Predicted Effect probably damaging
Transcript: ENSMUST00000058030
AA Change: T148K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061092
Gene: ENSMUSG00000062937
AA Change: T148K

DomainStartEndE-ValueType
Pfam:PNP_UDP_1 11 256 3.6e-50 PFAM
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,920,951 E245G possibly damaging Het
Acap2 T C 16: 31,154,677 I43V probably damaging Het
Acot11 T C 4: 106,771,484 T36A probably benign Het
Bsn A G 9: 108,110,913 probably benign Het
Capza2 T C 6: 17,654,171 probably null Het
Cerkl A G 2: 79,368,781 I155T possibly damaging Het
Dclre1b T C 3: 103,803,126 T490A probably benign Het
Efcab6 G A 15: 84,044,300 S31L probably benign Het
Faim T A 9: 98,992,535 M67K probably damaging Het
Frem2 T G 3: 53,655,241 Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 V341A possibly damaging Het
Grhpr T C 4: 44,986,375 F142L probably benign Het
Kif14 T C 1: 136,476,374 V532A probably damaging Het
Klk1b9 T A 7: 43,978,443 L55* probably null Het
Kmt2e C A 5: 23,497,948 P1042Q possibly damaging Het
Mpped1 T A 15: 83,800,119 I114N probably damaging Het
Muc16 G A 9: 18,508,507 A8347V possibly damaging Het
Nhs A T X: 161,841,453 S967T probably damaging Het
Npas3 A G 12: 54,048,819 Y344C probably damaging Het
Olfr1431 T C 19: 12,210,040 V158A possibly damaging Het
Olfr635 A T 7: 103,980,142 probably benign Het
Olfr876 T A 9: 37,804,220 F103Y probably damaging Het
Osmr A G 15: 6,842,028 Y303H probably damaging Het
Pcdhb8 A T 18: 37,357,578 I770F probably benign Het
Pde4a C T 9: 21,192,438 probably benign Het
Prkacb T G 3: 146,751,511 N79T probably damaging Het
Psd3 A C 8: 67,697,178 Y1222D probably damaging Het
Rrbp1 T A 2: 143,968,618 E847D possibly damaging Het
Sbno1 A T 5: 124,391,979 D912E probably damaging Het
Sgsm3 T A 15: 81,010,852 probably benign Het
Shcbp1 T C 8: 4,736,372 T577A probably benign Het
Siglec1 A T 2: 131,075,005 L1110* probably null Het
Siglec1 A T 2: 131,083,536 V335D probably damaging Het
Slc4a11 A G 2: 130,687,682 I335T probably benign Het
Smchd1 A C 17: 71,436,788 S461A probably benign Het
Spata16 C T 3: 26,914,715 P415S probably damaging Het
Tdrd12 G A 7: 35,505,034 S217L possibly damaging Het
Tmem156 C T 5: 65,080,182 R45H probably benign Het
Vmn2r90 T C 17: 17,733,280 S569P probably benign Het
Vps13c T A 9: 67,964,108 V3220E probably damaging Het
Wdr59 T C 8: 111,481,933 N439S possibly damaging Het
Zfp568 A G 7: 30,022,277 M215V probably benign Het
Zgrf1 T A 3: 127,584,007 V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 D255G possibly damaging Het
Other mutations in Mtap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Mtap APN 4 89172357 nonsense probably null
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 On2013-10-07