Incidental Mutation 'IGL03002:Aoc1l3'
ID 407393
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aoc1l3
Ensembl Gene ENSMUSG00000039215
Gene Name amine oxidase copper containing 1-like 3
Synonyms SVS I, Svs1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # IGL03002
Quality Score
Status
Chromosome 6
Chromosomal Location 48963795-48968656 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48964052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 20 (H20R)
Ref Sequence ENSEMBL: ENSMUSP00000045221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037696]
AlphaFold Q6WIZ7
Predicted Effect probably benign
Transcript: ENSMUST00000037696
AA Change: H20R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: H20R

DomainStartEndE-ValueType
Pfam:Cu_amine_oxidN2 44 130 1.5e-24 PFAM
Pfam:Cu_amine_oxidN3 146 246 2.7e-16 PFAM
internal_repeat_1 286 342 7.28e-22 PROSPERO
Pfam:Cu_amine_oxid 408 811 2e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204745
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
C8g T A 2: 25,388,823 (GRCm39) *203L probably null Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V probably damaging Het
Other mutations in Aoc1l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Aoc1l3 APN 6 48,964,673 (GRCm39) missense probably damaging 0.98
IGL01876:Aoc1l3 APN 6 48,966,970 (GRCm39) missense possibly damaging 0.71
IGL01934:Aoc1l3 APN 6 48,965,695 (GRCm39) missense probably damaging 0.97
IGL03059:Aoc1l3 APN 6 48,964,349 (GRCm39) missense probably benign 0.13
IGL03213:Aoc1l3 APN 6 48,965,279 (GRCm39) missense possibly damaging 0.92
IGL03249:Aoc1l3 APN 6 48,965,303 (GRCm39) missense probably benign
IGL03365:Aoc1l3 APN 6 48,965,531 (GRCm39) missense probably damaging 0.97
PIT4280001:Aoc1l3 UTSW 6 48,964,054 (GRCm39) missense probably benign 0.01
PIT4495001:Aoc1l3 UTSW 6 48,964,710 (GRCm39) missense possibly damaging 0.92
R0010:Aoc1l3 UTSW 6 48,965,840 (GRCm39) missense probably damaging 0.99
R0528:Aoc1l3 UTSW 6 48,964,965 (GRCm39) missense probably benign
R0784:Aoc1l3 UTSW 6 48,964,235 (GRCm39) missense possibly damaging 0.78
R0959:Aoc1l3 UTSW 6 48,965,566 (GRCm39) missense possibly damaging 0.89
R1173:Aoc1l3 UTSW 6 48,967,173 (GRCm39) missense probably damaging 1.00
R1174:Aoc1l3 UTSW 6 48,967,173 (GRCm39) missense probably damaging 1.00
R1175:Aoc1l3 UTSW 6 48,967,173 (GRCm39) missense probably damaging 1.00
R1940:Aoc1l3 UTSW 6 48,967,007 (GRCm39) nonsense probably null
R3115:Aoc1l3 UTSW 6 48,964,331 (GRCm39) missense probably damaging 0.99
R3116:Aoc1l3 UTSW 6 48,964,331 (GRCm39) missense probably damaging 0.99
R3808:Aoc1l3 UTSW 6 48,964,928 (GRCm39) missense possibly damaging 0.93
R3809:Aoc1l3 UTSW 6 48,964,928 (GRCm39) missense possibly damaging 0.93
R3852:Aoc1l3 UTSW 6 48,964,928 (GRCm39) missense possibly damaging 0.93
R4455:Aoc1l3 UTSW 6 48,964,394 (GRCm39) missense possibly damaging 0.56
R4898:Aoc1l3 UTSW 6 48,964,651 (GRCm39) missense possibly damaging 0.95
R4933:Aoc1l3 UTSW 6 48,964,426 (GRCm39) missense probably damaging 1.00
R5108:Aoc1l3 UTSW 6 48,965,504 (GRCm39) missense probably damaging 0.97
R5320:Aoc1l3 UTSW 6 48,964,509 (GRCm39) missense probably benign 0.02
R6053:Aoc1l3 UTSW 6 48,965,422 (GRCm39) missense probably benign 0.42
R6728:Aoc1l3 UTSW 6 48,965,779 (GRCm39) missense possibly damaging 0.86
R6922:Aoc1l3 UTSW 6 48,964,508 (GRCm39) missense probably damaging 0.99
R7045:Aoc1l3 UTSW 6 48,965,546 (GRCm39) missense possibly damaging 0.81
R7046:Aoc1l3 UTSW 6 48,964,512 (GRCm39) missense probably benign 0.11
R7137:Aoc1l3 UTSW 6 48,967,083 (GRCm39) missense probably damaging 1.00
R7267:Aoc1l3 UTSW 6 48,964,952 (GRCm39) small deletion probably benign
R7874:Aoc1l3 UTSW 6 48,965,600 (GRCm39) missense possibly damaging 0.91
R7993:Aoc1l3 UTSW 6 48,964,542 (GRCm39) missense possibly damaging 0.85
R8238:Aoc1l3 UTSW 6 48,966,975 (GRCm39) missense probably damaging 0.96
R8807:Aoc1l3 UTSW 6 48,965,188 (GRCm39) missense probably benign 0.30
R9036:Aoc1l3 UTSW 6 48,965,074 (GRCm39) small deletion probably benign
R9070:Aoc1l3 UTSW 6 48,965,329 (GRCm39) missense possibly damaging 0.80
R9350:Aoc1l3 UTSW 6 48,965,260 (GRCm39) missense probably damaging 1.00
R9451:Aoc1l3 UTSW 6 48,965,774 (GRCm39) missense probably damaging 1.00
R9498:Aoc1l3 UTSW 6 48,964,952 (GRCm39) small deletion probably benign
X0022:Aoc1l3 UTSW 6 48,965,273 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02