Incidental Mutation 'IGL01330:Mtap'
ID 74485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtap
Ensembl Gene ENSMUSG00000062937
Gene Name methylthioadenosine phosphorylase
Synonyms 1300019I21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01330
Quality Score
Status
Chromosome 4
Chromosomal Location 89055607-89099327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89089460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 148 (T148K)
Ref Sequence ENSEMBL: ENSMUSP00000061092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058030]
AlphaFold Q9CQ65
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: 31,898,351 (GRCm39) E245G possibly damaging Het
Acap2 T C 16: 30,973,495 (GRCm39) I43V probably damaging Het
Acot11 T C 4: 106,628,681 (GRCm39) T36A probably benign Het
Bsn A G 9: 107,988,112 (GRCm39) probably benign Het
Capza2 T C 6: 17,654,170 (GRCm39) probably null Het
Cerkl A G 2: 79,199,125 (GRCm39) I155T possibly damaging Het
Dclre1b T C 3: 103,710,442 (GRCm39) T490A probably benign Het
Efcab6 G A 15: 83,928,501 (GRCm39) S31L probably benign Het
Faim T A 9: 98,874,588 (GRCm39) M67K probably damaging Het
Frem2 T G 3: 53,562,662 (GRCm39) Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 (GRCm39) V341A possibly damaging Het
Grhpr T C 4: 44,986,375 (GRCm39) F142L probably benign Het
Kif14 T C 1: 136,404,112 (GRCm39) V532A probably damaging Het
Klk1b9 T A 7: 43,627,867 (GRCm39) L55* probably null Het
Kmt2e C A 5: 23,702,946 (GRCm39) P1042Q possibly damaging Het
Mpped1 T A 15: 83,684,320 (GRCm39) I114N probably damaging Het
Muc16 G A 9: 18,419,803 (GRCm39) A8347V possibly damaging Het
Nhs A T X: 160,624,449 (GRCm39) S967T probably damaging Het
Npas3 A G 12: 54,095,602 (GRCm39) Y344C probably damaging Het
Or51q1 A T 7: 103,629,349 (GRCm39) probably benign Het
Or5an9 T C 19: 12,187,404 (GRCm39) V158A possibly damaging Het
Or8b12c T A 9: 37,715,516 (GRCm39) F103Y probably damaging Het
Osmr A G 15: 6,871,509 (GRCm39) Y303H probably damaging Het
Pcdhb8 A T 18: 37,490,631 (GRCm39) I770F probably benign Het
Pde4a C T 9: 21,103,734 (GRCm39) probably benign Het
Prkacb T G 3: 146,457,266 (GRCm39) N79T probably damaging Het
Psd3 A C 8: 68,149,830 (GRCm39) Y1222D probably damaging Het
Rrbp1 T A 2: 143,810,538 (GRCm39) E847D possibly damaging Het
Sbno1 A T 5: 124,530,042 (GRCm39) D912E probably damaging Het
Sgsm3 T A 15: 80,895,053 (GRCm39) probably benign Het
Shcbp1 T C 8: 4,786,372 (GRCm39) T577A probably benign Het
Siglec1 A T 2: 130,925,456 (GRCm39) V335D probably damaging Het
Siglec1 A T 2: 130,916,925 (GRCm39) L1110* probably null Het
Slc4a11 A G 2: 130,529,602 (GRCm39) I335T probably benign Het
Smchd1 A C 17: 71,743,783 (GRCm39) S461A probably benign Het
Spata16 C T 3: 26,968,864 (GRCm39) P415S probably damaging Het
Tdrd12 G A 7: 35,204,459 (GRCm39) S217L possibly damaging Het
Tmem156 C T 5: 65,237,525 (GRCm39) R45H probably benign Het
Vmn2r90 T C 17: 17,953,542 (GRCm39) S569P probably benign Het
Vps13c T A 9: 67,871,390 (GRCm39) V3220E probably damaging Het
Wdr59 T C 8: 112,208,565 (GRCm39) N439S possibly damaging Het
Zfp568 A G 7: 29,721,702 (GRCm39) M215V probably benign Het
Zgrf1 T A 3: 127,377,656 (GRCm39) V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 (GRCm39) D255G possibly damaging Het
Other mutations in Mtap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00900:Mtap APN 4 89,090,594 (GRCm39) nonsense probably null
R0003:Mtap UTSW 4 89,070,235 (GRCm39) splice site probably benign
R1061:Mtap UTSW 4 89,074,821 (GRCm39) missense probably benign 0.15
R1156:Mtap UTSW 4 89,089,459 (GRCm39) missense probably benign 0.41
R1692:Mtap UTSW 4 89,095,151 (GRCm39) missense probably benign 0.00
R4585:Mtap UTSW 4 89,090,511 (GRCm39) missense probably benign
R6513:Mtap UTSW 4 89,066,498 (GRCm39) missense possibly damaging 0.68
R7424:Mtap UTSW 4 89,097,699 (GRCm39) splice site probably null
R9032:Mtap UTSW 4 89,090,515 (GRCm39) frame shift probably null
Posted On 2013-10-07