Incidental Mutation 'IGL02404:Metap1'
ID292017
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Metap1
Ensembl Gene ENSMUSG00000005813
Gene Namemethionyl aminopeptidase 1
Synonyms1700029C17Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL02404
Quality Score
Status
Chromosome3
Chromosomal Location138458956-138489515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 138489308 bp
ZygosityHeterozygous
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]
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
2410089E03Rik T C 15: 8,187,284 I662T possibly damaging Het
Adcy6 T C 15: 98,596,938 I745V probably benign Het
Alppl2 A G 1: 87,088,863 V163A possibly damaging Het
Atad2b T A 12: 4,941,972 S190R probably benign Het
Cep68 A G 11: 20,240,004 V336A possibly damaging Het
Clcn4 A C 7: 7,287,858 N587K probably benign Het
Clic1 A G 17: 35,052,876 E82G probably damaging Het
Cnbd1 T C 4: 18,895,047 S232G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Daw1 A G 1: 83,197,231 T151A probably benign Het
Dysf A G 6: 84,116,061 E1052G probably damaging Het
Gpr12 G A 5: 146,583,923 A63V probably damaging Het
Inmt C T 6: 55,171,110 R178Q possibly damaging Het
Mst1r A T 9: 107,913,067 probably benign Het
Olfr699 A C 7: 106,790,359 I214S probably damaging Het
Phkb T C 8: 85,878,115 S58P possibly damaging Het
Pigs T A 11: 78,340,031 I368N probably benign Het
Plekhm1 C T 11: 103,394,998 D204N probably benign Het
Pot1a A T 6: 25,764,432 probably benign Het
Rps4l A G 6: 148,354,779 probably benign Het
Scn8a T A 15: 101,039,730 M1660K probably damaging Het
Sec31b A C 19: 44,534,788 V23G probably damaging Het
Sorcs3 T C 19: 48,704,370 probably benign Het
Thap12 A G 7: 98,710,133 Y73C probably damaging Het
Thsd7b G A 1: 129,613,151 C254Y probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Ttn T A 2: 76,939,978 N2623I possibly damaging Het
Ulk1 A T 5: 110,796,234 probably null Het
Vps13d T C 4: 145,148,735 Y1734C probably damaging Het
Vsig10l A G 7: 43,463,747 D143G possibly damaging Het
Wac A G 18: 7,917,570 T347A probably damaging Het
Wdr62 G T 7: 30,267,873 R319S probably damaging Het
Zfp668 T C 7: 127,866,360 K551E probably damaging Het
Other mutations in Metap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Metap1 APN 3 138462389 missense probably damaging 1.00
IGL02002:Metap1 APN 3 138462389 missense probably damaging 1.00
R0042:Metap1 UTSW 3 138472157 missense probably benign 0.01
R0042:Metap1 UTSW 3 138472157 missense probably benign 0.01
R1217:Metap1 UTSW 3 138475030 nonsense probably null
R1652:Metap1 UTSW 3 138462390 missense probably damaging 1.00
R1846:Metap1 UTSW 3 138480682 splice site probably benign
R4385:Metap1 UTSW 3 138475063 missense possibly damaging 0.92
R4868:Metap1 UTSW 3 138483089 missense probably damaging 1.00
R6685:Metap1 UTSW 3 138478834 missense possibly damaging 0.53
R7339:Metap1 UTSW 3 138466137 intron probably null
R7650:Metap1 UTSW 3 138466367 missense probably damaging 1.00
Posted On2015-04-16