Incidental Mutation 'IGL01808:Amz1'
ID 155749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amz1
Ensembl Gene ENSMUSG00000050022
Gene Name archaelysin family metallopeptidase 1
Synonyms 6530401C20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL01808
Quality Score
Status
Chromosome 5
Chromosomal Location 140709882-140739067 bp(+) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 140727034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060918] [ENSMUST00000120630]
AlphaFold Q8BVF9
Predicted Effect probably benign
Transcript: ENSMUST00000060918
SMART Domains Protein: ENSMUSP00000053110
Gene: ENSMUSG00000050022

DomainStartEndE-ValueType
low complexity region 225 239 N/A INTRINSIC
low complexity region 475 494 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120630
SMART Domains Protein: ENSMUSP00000113911
Gene: ENSMUSG00000050022

DomainStartEndE-ValueType
low complexity region 225 239 N/A INTRINSIC
low complexity region 475 494 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156006
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ager A T 17: 34,818,431 (GRCm39) Q266L probably damaging Het
Ebf2 C T 14: 67,651,932 (GRCm39) A488V probably benign Het
Gm5885 A T 6: 133,508,181 (GRCm39) noncoding transcript Het
Gnas T C 2: 174,140,490 (GRCm39) S220P probably damaging Het
Gpr171 G A 3: 59,005,572 (GRCm39) P68S probably damaging Het
H2ax T C 9: 44,246,246 (GRCm39) I63T possibly damaging Het
H2-M9 A T 17: 36,952,711 (GRCm39) probably null Het
Igsf9 T C 1: 172,312,370 (GRCm39) V27A probably benign Het
Kcnh6 G T 11: 105,914,753 (GRCm39) probably benign Het
Mapkbp1 A G 2: 119,853,650 (GRCm39) probably null Het
Mllt6 C A 11: 97,563,310 (GRCm39) H298N possibly damaging Het
Mtmr3 A G 11: 4,447,404 (GRCm39) I352T probably damaging Het
Mtrr T C 13: 68,714,212 (GRCm39) D509G probably benign Het
Ncan C T 8: 70,560,090 (GRCm39) probably null Het
Or51aa2 T A 7: 103,187,781 (GRCm39) Y220F probably damaging Het
Pcdhb4 T C 18: 37,442,067 (GRCm39) V459A probably damaging Het
Phrf1 C A 7: 140,840,879 (GRCm39) P1274Q probably damaging Het
Slc4a2 T C 5: 24,645,205 (GRCm39) L1125P probably damaging Het
Synpo T C 18: 60,735,280 (GRCm39) I650V probably benign Het
Tsc1 G A 2: 28,552,519 (GRCm39) R86H probably damaging Het
Ugt2a3 A G 5: 87,473,414 (GRCm39) V501A probably benign Het
Vmn1r203 T C 13: 22,708,717 (GRCm39) I166T probably benign Het
Vps13a A G 19: 16,687,650 (GRCm39) C933R probably damaging Het
Zfp142 A T 1: 74,615,184 (GRCm39) F342Y probably damaging Het
Other mutations in Amz1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02340:Amz1 APN 5 140,738,014 (GRCm39) missense probably damaging 1.00
IGL03389:Amz1 APN 5 140,737,782 (GRCm39) missense probably benign
PIT4131001:Amz1 UTSW 5 140,735,088 (GRCm39) critical splice donor site probably null
R1173:Amz1 UTSW 5 140,737,691 (GRCm39) critical splice acceptor site probably null
R1237:Amz1 UTSW 5 140,727,039 (GRCm39) start codon destroyed probably damaging 0.98
R1435:Amz1 UTSW 5 140,733,921 (GRCm39) missense probably damaging 1.00
R1909:Amz1 UTSW 5 140,738,216 (GRCm39) missense probably benign 0.30
R2019:Amz1 UTSW 5 140,737,719 (GRCm39) missense probably benign 0.00
R4094:Amz1 UTSW 5 140,737,921 (GRCm39) missense probably damaging 0.99
R4374:Amz1 UTSW 5 140,738,194 (GRCm39) missense possibly damaging 0.83
R5121:Amz1 UTSW 5 140,729,919 (GRCm39) missense probably benign 0.05
R5462:Amz1 UTSW 5 140,733,976 (GRCm39) missense probably damaging 1.00
R7339:Amz1 UTSW 5 140,727,306 (GRCm39) missense probably benign 0.01
R7475:Amz1 UTSW 5 140,729,941 (GRCm39) critical splice donor site probably null
R7915:Amz1 UTSW 5 140,727,190 (GRCm39) missense probably benign
R8416:Amz1 UTSW 5 140,737,731 (GRCm39) nonsense probably null
R8539:Amz1 UTSW 5 140,734,412 (GRCm39) missense probably benign 0.05
R8766:Amz1 UTSW 5 140,733,921 (GRCm39) missense probably benign 0.01
R9500:Amz1 UTSW 5 140,737,975 (GRCm39) missense probably benign 0.00
R9563:Amz1 UTSW 5 140,738,133 (GRCm39) missense probably damaging 1.00
R9707:Amz1 UTSW 5 140,733,949 (GRCm39) missense possibly damaging 0.63
Z1176:Amz1 UTSW 5 140,729,828 (GRCm39) nonsense probably null
Posted On 2014-02-04