Incidental Mutation 'IGL01567:Metap1'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Metap1
Ensembl Gene ENSMUSG00000005813
Gene Namemethionyl aminopeptidase 1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.920) question?
Stock #IGL01567
Quality Score
Chromosomal Location138458956-138489515 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 138462389 bp
Amino Acid Change Threonine to Alanine at position 325 (T325A)
Ref Sequence ENSEMBL: ENSMUSP00000029804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029804] [ENSMUST00000198700]
Predicted Effect probably damaging
Transcript: ENSMUST00000029804
AA Change: T325A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029804
Gene: ENSMUSG00000005813
AA Change: T325A

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 damaging
Transcript: ENSMUST00000198700
AA Change: T55A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143215
Gene: ENSMUSG00000005813
AA Change: T55A

Pfam:Peptidase_M24 41 95 1.3e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200365
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,421,880 S317G probably benign Het
Akna T C 4: 63,381,850 T652A probably benign Het
Anxa9 G A 3: 95,302,432 probably benign Het
Bpifb4 T A 2: 153,947,278 probably benign Het
Bptf A G 11: 107,058,774 S2125P probably damaging Het
Capns2 C A 8: 92,902,006 H174Q probably benign Het
Cd200 A C 16: 45,394,691 L199R probably damaging Het
Clasp2 T C 9: 113,880,096 V651A probably damaging Het
Cox18 G A 5: 90,217,588 Q251* probably null Het
Depdc1a T C 3: 159,526,546 S645P probably damaging Het
Dio3 T A 12: 110,279,427 C66S possibly damaging Het
Dock9 A T 14: 121,653,084 L258Q probably damaging Het
Ghrhr A G 6: 55,384,123 D274G probably damaging Het
Gm5129 A G 5: 29,735,864 probably benign Het
Grb7 A G 11: 98,454,950 N518S probably damaging Het
Kdm5b G A 1: 134,602,540 A430T probably damaging Het
Map10 C A 8: 125,671,493 Q542K probably benign Het
Ncan A T 8: 70,108,334 M661K probably benign Het
Olfr38 T C 6: 42,762,727 I225T probably benign Het
Olfr572 A G 7: 102,928,416 I263V probably benign Het
Otog T C 7: 46,276,615 probably benign Het
Pip4k2b T C 11: 97,729,561 D116G probably damaging Het
Rps15 T A 10: 80,293,809 L86Q probably benign Het
Sfxn4 G T 19: 60,853,898 T122K probably damaging Het
Slc4a3 T C 1: 75,550,882 V165A probably damaging Het
Spata48 A G 11: 11,515,015 H122R possibly damaging Het
Synm A G 7: 67,735,232 V452A probably damaging Het
Tdpoz1 T C 3: 93,670,706 H257R possibly damaging Het
Tmem26 A G 10: 68,751,231 T170A probably damaging Het
Wdfy4 T G 14: 33,151,661 E230D probably benign Het
Other mutations in Metap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2013-12-09