Incidental Mutation 'IGL00230:Metap1d'
ID 306807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Metap1d
Ensembl Gene ENSMUSG00000041921
Gene Name methionyl aminopeptidase type 1D (mitochondrial)
Synonyms 2310066F24Rik, Metapl1, 3110033D18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock # IGL00230
Quality Score
Status
Chromosome 2
Chromosomal Location 71453276-71525194 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71512162 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 178 (D178E)
Ref Sequence ENSEMBL: ENSMUSP00000048190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037210]
AlphaFold Q9CPW9
Predicted Effect probably damaging
Transcript: ENSMUST00000037210
AA Change: D178E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048190
Gene: ENSMUSG00000041921
AA Change: D178E

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
low complexity region 49 65 N/A INTRINSIC
Pfam:Peptidase_M24 95 322 5.1e-56 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139045
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148164
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,420,107 A215V probably damaging Het
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gigyf1 A G 5: 137,522,745 probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mars A G 10: 127,298,006 M674T probably benign Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgpp1 G T 12: 75,716,194 Y404* probably null Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Ubqln1 C A 13: 58,177,992 E152* probably null Het
Wwtr1 G A 3: 57,463,491 T338I probably benign Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Metap1d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Metap1d APN 2 71515746 missense probably damaging 1.00
IGL01733:Metap1d APN 2 71511433 missense probably damaging 1.00
R6807_Metap1d_570 UTSW 2 71511514 missense probably damaging 1.00
R0294:Metap1d UTSW 2 71522545 missense probably benign
R1678:Metap1d UTSW 2 71524777 missense possibly damaging 0.95
R1917:Metap1d UTSW 2 71511527 missense probably damaging 1.00
R1934:Metap1d UTSW 2 71522583 missense possibly damaging 0.95
R2179:Metap1d UTSW 2 71453371 missense probably benign
R2512:Metap1d UTSW 2 71522610 missense probably damaging 0.97
R4614:Metap1d UTSW 2 71524948 missense probably benign 0.02
R4695:Metap1d UTSW 2 71524961 makesense probably null
R6236:Metap1d UTSW 2 71515678 missense probably benign 0.05
R6248:Metap1d UTSW 2 71515760 nonsense probably null
R6807:Metap1d UTSW 2 71511514 missense probably damaging 1.00
R7296:Metap1d UTSW 2 71506785 missense probably benign 0.05
R7796:Metap1d UTSW 2 71512162 missense probably damaging 1.00
R8183:Metap1d UTSW 2 71506863 missense possibly damaging 0.66
R8337:Metap1d UTSW 2 71515638 missense probably damaging 1.00
R9228:Metap1d UTSW 2 71522556 missense possibly damaging 0.94
Posted On 2015-04-16