Incidental Mutation 'IGL03163:Amz2'
ID411516
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Amz2
Ensembl Gene ENSMUSG00000020610
Gene Namearchaelysin family metallopeptidase 2
SynonymsESTM12
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03163
Quality Score
Status
Chromosome11
Chromosomal Location109425946-109452813 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 109428925 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 46 (Q46K)
Ref Sequence ENSEMBL: ENSMUSP00000099350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020929] [ENSMUST00000092500] [ENSMUST00000103061]
Predicted Effect probably benign
Transcript: ENSMUST00000020929
AA Change: Q46K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000020929
Gene: ENSMUSG00000020610
AA Change: Q46K

DomainStartEndE-ValueType
Pfam:Peptidase_M54 220 302 7.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000092500
AA Change: Q46K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000090157
Gene: ENSMUSG00000020610
AA Change: Q46K

DomainStartEndE-ValueType
Pfam:Peptidase_M54 232 302 2e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103061
AA Change: Q46K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099350
Gene: ENSMUSG00000020610
AA Change: Q46K

DomainStartEndE-ValueType
Pfam:Peptidase_M54 232 302 2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141739
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155036
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,181,417 D393V probably benign Het
Ankhd1 G A 18: 36,647,628 R1911H probably damaging Het
Apba3 A G 10: 81,269,223 probably null Het
Atxn1l T C 8: 109,732,385 N415S probably damaging Het
Ccdc36 G T 9: 108,404,933 L519I probably benign Het
Clu C T 14: 65,979,786 S356F probably benign Het
Cluh T C 11: 74,666,068 V1029A probably benign Het
Creb3 C T 4: 43,566,315 L274F probably damaging Het
Cyhr1 A T 15: 76,659,274 L13Q probably damaging Het
Dcaf8 T C 1: 172,172,908 V211A probably damaging Het
Emilin3 G A 2: 160,908,729 Q320* probably null Het
Fam131c T C 4: 141,382,758 F156L probably damaging Het
Fbxw21 T A 9: 109,145,484 I323F probably benign Het
Fmo9 A G 1: 166,674,450 V202A possibly damaging Het
Gipr C T 7: 19,162,556 W205* probably null Het
Gm13941 A T 2: 111,098,416 I99K unknown Het
Gpr22 A T 12: 31,709,172 V317E possibly damaging Het
Hace1 T C 10: 45,672,605 I582T probably damaging Het
Khdrbs1 T C 4: 129,725,715 E211G probably benign Het
Lonrf1 T C 8: 36,230,330 D500G probably benign Het
Lrp2 A C 2: 69,501,526 Y1628* probably null Het
Lrrc40 T C 3: 158,041,587 I112T possibly damaging Het
Matr3 G A 18: 35,572,591 D190N probably damaging Het
Olfr894 T C 9: 38,219,414 V194A probably benign Het
Ptpn13 A T 5: 103,591,346 D2326V probably damaging Het
Ptpn3 T C 4: 57,222,020 D557G probably damaging Het
Rangap1 A T 15: 81,716,600 N194K probably damaging Het
Rasgef1c T C 11: 49,971,373 V363A possibly damaging Het
Ric8b A G 10: 85,001,822 N498D probably damaging Het
Scn1a A C 2: 66,318,074 D22E probably benign Het
Spc25 T G 2: 69,197,204 I115L probably damaging Het
Sspo A G 6: 48,484,332 H3569R probably benign Het
Stra6l T C 4: 45,881,455 I439T probably benign Het
Trappc12 G T 12: 28,746,654 P293Q probably damaging Het
Trcg1 T C 9: 57,248,347 L761P possibly damaging Het
Usp15 A C 10: 123,171,144 M144R probably damaging Het
Vmn2r11 T C 5: 109,053,826 I271V probably benign Het
Zcchc2 T C 1: 106,031,111 V1104A probably damaging Het
Other mutations in Amz2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00339:Amz2 APN 11 109434021 missense probably damaging 0.97
IGL02454:Amz2 APN 11 109434061 splice site probably benign
BB004:Amz2 UTSW 11 109429058 missense probably damaging 0.96
BB014:Amz2 UTSW 11 109429058 missense probably damaging 0.96
R0546:Amz2 UTSW 11 109433954 missense probably benign
R1617:Amz2 UTSW 11 109434024 missense probably benign 0.11
R1913:Amz2 UTSW 11 109428871 missense probably damaging 0.96
R2179:Amz2 UTSW 11 109429832 missense probably damaging 1.00
R4291:Amz2 UTSW 11 109434055 critical splice donor site probably null
R4722:Amz2 UTSW 11 109434631 missense probably damaging 1.00
R5797:Amz2 UTSW 11 109427079 start gained probably benign
R5845:Amz2 UTSW 11 109433929 missense probably damaging 1.00
R6341:Amz2 UTSW 11 109428827 missense probably benign 0.10
R6384:Amz2 UTSW 11 109429034 missense probably damaging 0.99
R7698:Amz2 UTSW 11 109429007 missense probably damaging 0.98
R7896:Amz2 UTSW 11 109436587 missense possibly damaging 0.80
R7927:Amz2 UTSW 11 109429058 missense probably damaging 0.96
Posted On2016-08-02