Incidental Mutation 'IGL03242:Aoc1l2'
ID 414883
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aoc1l2
Ensembl Gene ENSMUSG00000029813
Gene Name amine oxidase copper containing 1-like 2
Synonyms 1600015I10Rik, Doxl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # IGL03242
Quality Score
Status
Chromosome 6
Chromosomal Location 48906830-48910621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48909479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 575 (F575L)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect possibly damaging
Transcript: ENSMUST00000031837
AA Change: F575L

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: F575L

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 50 136 1.7e-25 PFAM
Pfam:Cu_amine_oxidN3 152 252 3.5e-16 PFAM
Pfam:Cu_amine_oxid 306 708 7.1e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158710
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,189 (GRCm39) W221R unknown Het
Ank2 A G 3: 126,722,454 (GRCm39) F1000L possibly damaging Het
Bahcc1 T C 11: 120,159,126 (GRCm39) probably benign Het
BC024139 T C 15: 76,004,520 (GRCm39) M679V probably benign Het
Carmil2 A G 8: 106,417,952 (GRCm39) probably benign Het
Catsperg2 A G 7: 29,424,904 (GRCm39) probably benign Het
Chrnb4 A T 9: 54,942,812 (GRCm39) I154K probably damaging Het
Clec2e A C 6: 129,071,989 (GRCm39) L130W probably damaging Het
Coro2b G T 9: 62,336,243 (GRCm39) Y281* probably null Het
Dlk2 A G 17: 46,613,903 (GRCm39) Y386C probably benign Het
Dnah7a A T 1: 53,659,882 (GRCm39) F709I probably benign Het
Efcab3 A C 11: 104,997,230 (GRCm39) E140A probably damaging Het
Exoc1 T C 5: 76,706,854 (GRCm39) L467P probably damaging Het
Fkbp2 A G 19: 6,955,980 (GRCm39) V75A probably benign Het
Glud1 T C 14: 34,056,237 (GRCm39) F304L probably benign Het
Gsr T A 8: 34,175,627 (GRCm39) V291E probably benign Het
Itprid2 C T 2: 79,473,815 (GRCm39) R189* probably null Het
Kap A G 6: 133,828,763 (GRCm39) probably benign Het
Kmt2a G T 9: 44,759,689 (GRCm39) T720N probably damaging Het
Lrrtm4 T C 6: 79,999,071 (GRCm39) I161T probably benign Het
Lyst T A 13: 13,831,466 (GRCm39) L1630* probably null Het
Med13l A G 5: 118,885,510 (GRCm39) S1488G probably benign Het
Mlxip A G 5: 123,578,124 (GRCm39) K147E probably damaging Het
Nalcn T C 14: 123,558,899 (GRCm39) E810G possibly damaging Het
Or2d4 A G 7: 106,544,125 (GRCm39) F28L possibly damaging Het
Or56a5 G A 7: 104,793,473 (GRCm39) S15F probably benign Het
Or5p54 T C 7: 107,554,688 (GRCm39) V280A possibly damaging Het
Pcare A G 17: 72,057,266 (GRCm39) S804P probably benign Het
Piezo2 T C 18: 63,144,609 (GRCm39) probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Serpina3j G A 12: 104,285,960 (GRCm39) A372T possibly damaging Het
Slc28a3 G A 13: 58,722,063 (GRCm39) Q274* probably null Het
Stk36 T C 1: 74,662,511 (GRCm39) F543S possibly damaging Het
Tfrc T C 16: 32,448,930 (GRCm39) S690P probably damaging Het
Tg C A 15: 66,555,647 (GRCm39) Q780K probably damaging Het
Top1 T A 2: 160,557,653 (GRCm39) H578Q probably damaging Het
Treh A G 9: 44,596,634 (GRCm39) T463A possibly damaging Het
Treml1 G A 17: 48,673,016 (GRCm39) probably benign Het
Trpm2 A G 10: 77,753,568 (GRCm39) V1312A probably benign Het
Ttc41 T A 10: 86,612,683 (GRCm39) *1319K probably null Het
Tulp2 A G 7: 45,171,282 (GRCm39) I354M probably damaging Het
Ugt2b35 T C 5: 87,155,254 (GRCm39) L363P probably damaging Het
Usp13 A T 3: 32,956,218 (GRCm39) M496L probably benign Het
Virma T C 4: 11,527,669 (GRCm39) S1187P possibly damaging Het
Wdr76 T A 2: 121,372,951 (GRCm39) C593S probably damaging Het
Zfp446 G A 7: 12,713,252 (GRCm39) A97T probably damaging Het
Other mutations in Aoc1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Aoc1l2 APN 6 48,907,974 (GRCm39) missense probably damaging 1.00
IGL01347:Aoc1l2 APN 6 48,909,477 (GRCm39) missense probably benign 0.02
IGL01751:Aoc1l2 APN 6 48,907,522 (GRCm39) missense possibly damaging 0.79
IGL01915:Aoc1l2 APN 6 48,908,582 (GRCm39) missense probably damaging 1.00
IGL02669:Aoc1l2 APN 6 48,908,407 (GRCm39) missense probably damaging 1.00
IGL03033:Aoc1l2 APN 6 48,909,452 (GRCm39) missense probably benign 0.00
R0096:Aoc1l2 UTSW 6 48,908,122 (GRCm39) missense probably damaging 1.00
R0096:Aoc1l2 UTSW 6 48,908,122 (GRCm39) missense probably damaging 1.00
R0448:Aoc1l2 UTSW 6 48,909,991 (GRCm39) missense probably damaging 1.00
R1488:Aoc1l2 UTSW 6 48,910,381 (GRCm39) missense possibly damaging 0.91
R1498:Aoc1l2 UTSW 6 48,908,305 (GRCm39) missense probably benign 0.00
R1520:Aoc1l2 UTSW 6 48,908,231 (GRCm39) nonsense probably null
R1922:Aoc1l2 UTSW 6 48,908,220 (GRCm39) missense probably benign 0.00
R1992:Aoc1l2 UTSW 6 48,907,703 (GRCm39) missense probably damaging 1.00
R1997:Aoc1l2 UTSW 6 48,909,363 (GRCm39) missense probably damaging 0.98
R2021:Aoc1l2 UTSW 6 48,908,385 (GRCm39) missense probably damaging 1.00
R3771:Aoc1l2 UTSW 6 48,908,130 (GRCm39) missense probably damaging 1.00
R4208:Aoc1l2 UTSW 6 48,908,581 (GRCm39) missense probably damaging 1.00
R4790:Aoc1l2 UTSW 6 48,907,486 (GRCm39) missense probably damaging 0.99
R5114:Aoc1l2 UTSW 6 48,908,292 (GRCm39) missense probably benign 0.02
R5610:Aoc1l2 UTSW 6 48,907,953 (GRCm39) missense probably benign 0.00
R5823:Aoc1l2 UTSW 6 48,907,486 (GRCm39) missense probably damaging 0.99
R5847:Aoc1l2 UTSW 6 48,910,412 (GRCm39) missense probably damaging 1.00
R6233:Aoc1l2 UTSW 6 48,907,899 (GRCm39) missense probably benign
R6357:Aoc1l2 UTSW 6 48,907,908 (GRCm39) missense probably benign 0.00
R6694:Aoc1l2 UTSW 6 48,907,480 (GRCm39) missense probably benign 0.21
R6733:Aoc1l2 UTSW 6 48,907,464 (GRCm39) missense probably damaging 1.00
R6894:Aoc1l2 UTSW 6 48,907,596 (GRCm39) missense probably damaging 1.00
R6898:Aoc1l2 UTSW 6 48,907,975 (GRCm39) missense probably damaging 0.97
R6916:Aoc1l2 UTSW 6 48,907,987 (GRCm39) missense probably benign 0.01
R7242:Aoc1l2 UTSW 6 48,908,062 (GRCm39) missense probably damaging 1.00
R7762:Aoc1l2 UTSW 6 48,909,620 (GRCm39) missense probably benign 0.07
R8257:Aoc1l2 UTSW 6 48,909,431 (GRCm39) missense probably benign 0.04
R8391:Aoc1l2 UTSW 6 48,909,602 (GRCm39) missense probably damaging 0.96
R8839:Aoc1l2 UTSW 6 48,907,974 (GRCm39) missense probably damaging 1.00
R8863:Aoc1l2 UTSW 6 48,907,042 (GRCm39) missense probably benign 0.00
R9266:Aoc1l2 UTSW 6 48,907,171 (GRCm39) missense probably benign 0.00
R9274:Aoc1l2 UTSW 6 48,907,341 (GRCm39) missense possibly damaging 0.94
R9380:Aoc1l2 UTSW 6 48,910,064 (GRCm39) missense probably damaging 1.00
R9382:Aoc1l2 UTSW 6 48,907,298 (GRCm39) missense probably benign 0.08
R9562:Aoc1l2 UTSW 6 48,907,909 (GRCm39) missense probably benign 0.01
R9565:Aoc1l2 UTSW 6 48,907,909 (GRCm39) missense probably benign 0.01
R9703:Aoc1l2 UTSW 6 48,909,629 (GRCm39) missense probably benign 0.01
R9781:Aoc1l2 UTSW 6 48,907,660 (GRCm39) missense possibly damaging 0.58
X0062:Aoc1l2 UTSW 6 48,910,066 (GRCm39) missense possibly damaging 0.55
Z1176:Aoc1l2 UTSW 6 48,909,402 (GRCm39) missense probably benign 0.38
Posted On 2016-08-02