Incidental Mutation 'R0042:Metap1'
ID15685
Institutional Source Beutler Lab
Gene Symbol Metap1
Ensembl Gene ENSMUSG00000005813
Gene Namemethionyl aminopeptidase 1
Synonyms1700029C17Rik
MMRRC Submission 038336-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.777) question?
Stock #R0042 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location138458956-138489515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 138472157 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 217 (V217I)
Ref Sequence ENSEMBL: ENSMUSP00000029804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029804] [ENSMUST00000197531] [ENSMUST00000198700]
Predicted Effect probably benign
Transcript: ENSMUST00000029804
AA Change: V217I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000029804
Gene: ENSMUSG00000005813
AA Change: V217I

DomainStartEndE-ValueType
Pfam:zf-C6H2 9 54 1.6e-23 PFAM
Pfam:Peptidase_M24 137 365 8.4e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195910
Predicted Effect probably benign
Transcript: ENSMUST00000197531
SMART Domains Protein: ENSMUSP00000143048
Gene: ENSMUSG00000005813

DomainStartEndE-ValueType
Pfam:zf-MYND 7 52 2e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198700
SMART Domains Protein: ENSMUSP00000143215
Gene: ENSMUSG00000005813

DomainStartEndE-ValueType
Pfam:Peptidase_M24 41 95 1.3e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200365
Meta Mutation Damage Score 0.16 question?
Coding Region Coverage
  • 1x: 81.9%
  • 3x: 73.7%
  • 10x: 53.7%
  • 20x: 34.5%
Validation Efficiency 94% (58/62)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik C A 17: 25,947,982 E194* probably null Het
Abca1 C T 4: 53,059,245 probably benign Het
Adgrf3 A G 5: 30,197,428 L534P probably damaging Het
Ank2 T C 3: 126,936,631 D3568G probably damaging Het
Atr T A 9: 95,927,356 probably benign Het
Ccnb2 A G 9: 70,419,053 V34A probably benign Het
Dmxl1 C A 18: 49,864,035 T466K probably benign Het
Eya1 T C 1: 14,184,489 D373G probably damaging Het
Fam120a A G 13: 48,934,014 V290A probably damaging Het
Gpr179 C T 11: 97,334,931 V2133I probably benign Het
Grb10 G T 11: 11,936,798 H435Q probably damaging Het
Gzmm T C 10: 79,694,565 I190T probably benign Het
H2-Q3 A G 17: 35,359,847 noncoding transcript Het
Hspb7 A G 4: 141,423,934 E129G probably damaging Het
Il17ra T C 6: 120,472,125 probably benign Het
Itgb3 A G 11: 104,667,140 T787A possibly damaging Het
Krt4 T G 15: 101,922,752 probably benign Het
Lgsn C T 1: 31,190,453 T85I probably benign Het
Mib2 A T 4: 155,659,440 C48* probably null Het
Mroh4 T A 15: 74,610,305 I768F probably damaging Het
Npas3 T A 12: 54,048,841 D361E probably damaging Het
P4hb G A 11: 120,568,266 R134C probably damaging Het
Rbl1 A G 2: 157,175,704 probably benign Het
Rdh10 T A 1: 16,108,036 probably benign Het
Spata31 A T 13: 64,922,563 I842L probably benign Het
Stk32b A C 5: 37,716,748 D13E probably benign Het
Svep1 T C 4: 58,123,192 D708G possibly damaging Het
Taar6 T C 10: 23,985,123 D175G probably benign Het
Tmod4 T C 3: 95,129,788 D164G possibly damaging Het
Ttc23l A C 15: 10,551,541 L33W probably damaging Het
Ttc39d T C 17: 80,215,950 Y13H probably benign Het
Utp18 G T 11: 93,875,858 T309K probably damaging Het
Vps11 G T 9: 44,356,291 Y341* probably null Het
Vsig8 T C 1: 172,560,358 V5A possibly 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
IGL02404:Metap1 APN 3 138489308 missense probably damaging 1.00
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
Posted On2012-12-21