Incidental Mutation 'IGL02404:Metap1'
ID 292017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Metap1
Ensembl Gene ENSMUSG00000005813
Gene Name methionyl aminopeptidase 1
Synonyms 1700029C17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL02404
Quality Score
Status
Chromosome 3
Chromosomal Location 138164721-138195143 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138195069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 22 (C22S)
Ref Sequence ENSEMBL: ENSMUSP00000143048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029804] [ENSMUST00000197531]
AlphaFold Q8BP48
Predicted Effect probably damaging
Transcript: ENSMUST00000029804
AA Change: C22S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029804
Gene: ENSMUSG00000005813
AA Change: C22S

DomainStartEndE-ValueType
Pfam:zf-C6H2 9 54 1.6e-23 PFAM
Pfam:Peptidase_M24 137 365 8.4e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197531
AA Change: C22S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143048
Gene: ENSMUSG00000005813
AA Change: C22S

DomainStartEndE-ValueType
Pfam:zf-MYND 7 52 2e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198492
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 T C 15: 98,494,819 (GRCm39) I745V probably benign Het
Alppl2 A G 1: 87,016,585 (GRCm39) V163A possibly damaging Het
Atad2b T A 12: 4,991,972 (GRCm39) S190R probably benign Het
Cep68 A G 11: 20,190,004 (GRCm39) V336A possibly damaging Het
Clcn4 A C 7: 7,290,857 (GRCm39) N587K probably benign Het
Clic1 A G 17: 35,271,852 (GRCm39) E82G probably damaging Het
Cnbd1 T C 4: 18,895,047 (GRCm39) S232G possibly damaging Het
Cplane1 T C 15: 8,216,768 (GRCm39) I662T possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Daw1 A G 1: 83,174,952 (GRCm39) T151A probably benign Het
Dysf A G 6: 84,093,043 (GRCm39) E1052G probably damaging Het
Gpr12 G A 5: 146,520,733 (GRCm39) A63V probably damaging Het
Inmt C T 6: 55,148,095 (GRCm39) R178Q possibly damaging Het
Mst1r A T 9: 107,790,266 (GRCm39) probably benign Het
Or2ag17 A C 7: 106,389,566 (GRCm39) I214S probably damaging Het
Phkb T C 8: 86,604,744 (GRCm39) S58P possibly damaging Het
Pigs T A 11: 78,230,857 (GRCm39) I368N probably benign Het
Plekhm1 C T 11: 103,285,824 (GRCm39) D204N probably benign Het
Pot1a A T 6: 25,764,431 (GRCm39) probably benign Het
Rps4l A G 6: 148,256,277 (GRCm39) probably benign Het
Scn8a T A 15: 100,937,611 (GRCm39) M1660K probably damaging Het
Sec31b A C 19: 44,523,227 (GRCm39) V23G probably damaging Het
Sorcs3 T C 19: 48,692,809 (GRCm39) probably benign Het
Thap12 A G 7: 98,359,340 (GRCm39) Y73C probably damaging Het
Thsd7b G A 1: 129,540,888 (GRCm39) C254Y probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Ttn T A 2: 76,770,322 (GRCm39) N2623I possibly damaging Het
Ulk1 A T 5: 110,944,100 (GRCm39) probably null Het
Vps13d T C 4: 144,875,305 (GRCm39) Y1734C probably damaging Het
Vsig10l A G 7: 43,113,171 (GRCm39) D143G possibly damaging Het
Wac A G 18: 7,917,570 (GRCm39) T347A probably damaging Het
Wdr62 G T 7: 29,967,298 (GRCm39) R319S probably damaging Het
Zfp668 T C 7: 127,465,532 (GRCm39) K551E probably damaging Het
Other mutations in Metap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Metap1 APN 3 138,168,150 (GRCm39) missense probably damaging 1.00
IGL02002:Metap1 APN 3 138,168,150 (GRCm39) missense probably damaging 1.00
R0042:Metap1 UTSW 3 138,177,918 (GRCm39) missense probably benign 0.01
R0042:Metap1 UTSW 3 138,177,918 (GRCm39) missense probably benign 0.01
R1217:Metap1 UTSW 3 138,180,791 (GRCm39) nonsense probably null
R1652:Metap1 UTSW 3 138,168,151 (GRCm39) missense probably damaging 1.00
R1846:Metap1 UTSW 3 138,186,443 (GRCm39) splice site probably benign
R4385:Metap1 UTSW 3 138,180,824 (GRCm39) missense possibly damaging 0.92
R4868:Metap1 UTSW 3 138,188,850 (GRCm39) missense probably damaging 1.00
R6685:Metap1 UTSW 3 138,184,595 (GRCm39) missense possibly damaging 0.53
R7339:Metap1 UTSW 3 138,171,898 (GRCm39) splice site probably null
R7650:Metap1 UTSW 3 138,172,128 (GRCm39) missense probably damaging 1.00
R7990:Metap1 UTSW 3 138,186,526 (GRCm39) missense probably benign
R8550:Metap1 UTSW 3 138,172,077 (GRCm39) missense possibly damaging 0.90
R8929:Metap1 UTSW 3 138,174,643 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16