Incidental Mutation 'R4321:Aoc1l1'
ID 323821
Institutional Source Beutler Lab
Gene Symbol Aoc1l1
Ensembl Gene ENSMUSG00000068536
Gene Name amine oxidase copper containing 1-like 1
Synonyms Doxl2
MMRRC Submission 041662-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4321 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48951897-48955680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48953456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 460 (D460E)
Ref Sequence ENSEMBL: ENSMUSP00000139012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090063] [ENSMUST00000184917]
AlphaFold Q6IMK7
Predicted Effect probably damaging
Transcript: ENSMUST00000090063
AA Change: D460E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: D460E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 44 130 1.8e-26 PFAM
Pfam:Cu_amine_oxidN3 146 246 2.5e-16 PFAM
Pfam:Cu_amine_oxid 298 708 1.3e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184852
SMART Domains Protein: ENSMUSP00000139236
Gene: ENSMUSG00000068536

DomainStartEndE-ValueType
Pfam:Cu_amine_oxid 15 212 2.4e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184917
AA Change: D460E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: D460E

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 44 130 1.1e-21 PFAM
Pfam:Cu_amine_oxidN3 146 246 3.1e-14 PFAM
Pfam:Cu_amine_oxid 298 711 1.4e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204745
Meta Mutation Damage Score 0.6749 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 95% (56/59)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik A T 10: 29,100,887 (GRCm39) D420V probably damaging Het
Als2 A C 1: 59,206,613 (GRCm39) probably benign Het
Ankrd9 A G 12: 110,943,074 (GRCm39) L287P probably damaging Het
Bbof1 A T 12: 84,473,902 (GRCm39) R411* probably null Het
Camta2 A T 11: 70,569,151 (GRCm39) L598Q probably damaging Het
Ccdc178 T A 18: 22,166,600 (GRCm39) K530* probably null Het
Cep85 G A 4: 133,859,596 (GRCm39) T689I probably damaging Het
Clvs1 T C 4: 9,282,029 (GRCm39) probably benign Het
Cpped1 T C 16: 11,705,610 (GRCm39) T65A probably benign Het
Daxx T C 17: 34,130,380 (GRCm39) Y132H possibly damaging Het
Dock7 T C 4: 98,960,691 (GRCm39) E279G probably damaging Het
Dok7 A T 5: 35,237,141 (GRCm39) probably benign Het
Dthd1 A T 5: 62,976,033 (GRCm39) I236F probably damaging Het
Egf A G 3: 129,499,783 (GRCm39) C285R probably damaging Het
Epha4 T A 1: 77,483,850 (GRCm39) probably null Het
Fbxw13 A C 9: 109,010,503 (GRCm39) I378M probably benign Het
Gaa A T 11: 119,160,963 (GRCm39) N2I probably benign Het
Gad1 G A 2: 70,420,174 (GRCm39) D353N probably damaging Het
Ggcx A G 6: 72,405,803 (GRCm39) S545G probably benign Het
Gm2663 G T 6: 40,974,530 (GRCm39) Q87K probably damaging Het
Golga4 A G 9: 118,385,503 (GRCm39) E847G probably damaging Het
Hipk3 C A 2: 104,276,916 (GRCm39) V388L probably damaging Het
Ibtk T C 9: 85,617,125 (GRCm39) D149G possibly damaging Het
Ice1 A T 13: 70,751,229 (GRCm39) V1619E possibly damaging Het
Itpr3 A G 17: 27,330,948 (GRCm39) E1752G probably benign Het
Itsn1 G A 16: 91,615,440 (GRCm39) probably benign Het
Kprp G A 3: 92,732,163 (GRCm39) R296W probably damaging Het
Lama1 G A 17: 68,078,078 (GRCm39) G1171D probably benign Het
Lonp2 A G 8: 87,392,356 (GRCm39) H474R probably damaging Het
Mark1 G T 1: 184,630,871 (GRCm39) D746E possibly damaging Het
Mlxipl C T 5: 135,164,304 (GRCm39) Q167* probably null Het
Myo3a A T 2: 22,271,966 (GRCm39) N162Y probably damaging Het
Myo5a T G 9: 75,124,812 (GRCm39) V1787G probably damaging Het
Myorg C T 4: 41,498,767 (GRCm39) V288I probably benign Het
Nrxn3 A T 12: 90,166,005 (GRCm39) E227V probably damaging Het
Orc1 G A 4: 108,445,973 (GRCm39) M30I probably benign Het
Pira13 A G 7: 3,825,754 (GRCm39) S372P possibly damaging Het
Rufy2 A G 10: 62,818,459 (GRCm39) D5G probably damaging Het
Rufy4 A T 1: 74,171,943 (GRCm39) D222V possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin1 G A 7: 126,816,200 (GRCm39) P77S probably damaging Het
Slamf1 T C 1: 171,602,694 (GRCm39) probably null Het
Sox6 A G 7: 115,179,798 (GRCm39) probably null Het
Spef2 A T 15: 9,679,429 (GRCm39) I636K possibly damaging Het
Tshz2 T A 2: 169,727,465 (GRCm39) I218N possibly damaging Het
Txnl1 T C 18: 63,812,561 (GRCm39) T78A possibly damaging Het
Ulk4 T G 9: 120,903,062 (GRCm39) R1138S probably benign Het
Vamp8 A C 6: 72,362,536 (GRCm39) V88G possibly damaging Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp850 A C 7: 27,688,825 (GRCm39) F461C probably damaging Het
Other mutations in Aoc1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Aoc1l1 APN 6 48,955,065 (GRCm39) missense possibly damaging 0.82
IGL00985:Aoc1l1 APN 6 48,954,481 (GRCm39) missense probably benign
IGL01556:Aoc1l1 APN 6 48,952,618 (GRCm39) missense possibly damaging 0.58
IGL02083:Aoc1l1 APN 6 48,953,194 (GRCm39) missense probably damaging 1.00
IGL02135:Aoc1l1 APN 6 48,952,498 (GRCm39) missense probably benign 0.11
IGL02744:Aoc1l1 APN 6 48,952,249 (GRCm39) missense probably benign 0.15
IGL03005:Aoc1l1 APN 6 48,953,480 (GRCm39) nonsense probably null
R0306:Aoc1l1 UTSW 6 48,953,020 (GRCm39) missense probably damaging 1.00
R0380:Aoc1l1 UTSW 6 48,952,773 (GRCm39) missense probably benign
R0598:Aoc1l1 UTSW 6 48,952,471 (GRCm39) missense probably benign 0.36
R0948:Aoc1l1 UTSW 6 48,953,278 (GRCm39) missense probably damaging 1.00
R1404:Aoc1l1 UTSW 6 48,952,767 (GRCm39) missense probably benign 0.03
R1404:Aoc1l1 UTSW 6 48,952,767 (GRCm39) missense probably benign 0.03
R1432:Aoc1l1 UTSW 6 48,952,588 (GRCm39) missense probably damaging 1.00
R1443:Aoc1l1 UTSW 6 48,952,849 (GRCm39) missense probably damaging 1.00
R1535:Aoc1l1 UTSW 6 48,952,398 (GRCm39) missense probably damaging 0.98
R1625:Aoc1l1 UTSW 6 48,952,105 (GRCm39) missense probably damaging 1.00
R1872:Aoc1l1 UTSW 6 48,952,554 (GRCm39) missense probably benign 0.00
R1960:Aoc1l1 UTSW 6 48,952,687 (GRCm39) missense probably damaging 1.00
R2031:Aoc1l1 UTSW 6 48,952,789 (GRCm39) missense probably damaging 0.99
R2049:Aoc1l1 UTSW 6 48,954,689 (GRCm39) nonsense probably null
R2086:Aoc1l1 UTSW 6 48,954,536 (GRCm39) missense probably damaging 1.00
R2144:Aoc1l1 UTSW 6 48,952,225 (GRCm39) missense probably benign 0.00
R2145:Aoc1l1 UTSW 6 48,953,629 (GRCm39) missense probably damaging 1.00
R2152:Aoc1l1 UTSW 6 48,953,473 (GRCm39) missense probably damaging 1.00
R2255:Aoc1l1 UTSW 6 48,952,891 (GRCm39) missense possibly damaging 0.75
R2973:Aoc1l1 UTSW 6 48,953,358 (GRCm39) missense probably benign 0.07
R2974:Aoc1l1 UTSW 6 48,953,358 (GRCm39) missense probably benign 0.07
R3125:Aoc1l1 UTSW 6 48,952,305 (GRCm39) missense probably damaging 1.00
R4367:Aoc1l1 UTSW 6 48,953,064 (GRCm39) missense probably damaging 1.00
R4532:Aoc1l1 UTSW 6 48,955,101 (GRCm39) missense possibly damaging 0.77
R4575:Aoc1l1 UTSW 6 48,954,502 (GRCm39) nonsense probably null
R4611:Aoc1l1 UTSW 6 48,952,090 (GRCm39) missense probably benign 0.39
R4823:Aoc1l1 UTSW 6 48,952,195 (GRCm39) missense probably damaging 1.00
R5320:Aoc1l1 UTSW 6 48,952,474 (GRCm39) missense probably damaging 1.00
R5520:Aoc1l1 UTSW 6 48,952,728 (GRCm39) missense possibly damaging 0.93
R5698:Aoc1l1 UTSW 6 48,953,256 (GRCm39) missense possibly damaging 0.94
R5765:Aoc1l1 UTSW 6 48,955,471 (GRCm39) missense probably damaging 1.00
R6024:Aoc1l1 UTSW 6 48,953,030 (GRCm39) missense possibly damaging 0.71
R6061:Aoc1l1 UTSW 6 48,953,535 (GRCm39) missense probably benign 0.02
R6268:Aoc1l1 UTSW 6 48,954,616 (GRCm39) missense probably benign 0.01
R6564:Aoc1l1 UTSW 6 48,954,509 (GRCm39) missense probably benign 0.00
R6640:Aoc1l1 UTSW 6 48,954,605 (GRCm39) missense probably benign 0.21
R7131:Aoc1l1 UTSW 6 48,953,306 (GRCm39) nonsense probably null
R8678:Aoc1l1 UTSW 6 48,953,158 (GRCm39) missense possibly damaging 0.91
R8932:Aoc1l1 UTSW 6 48,952,428 (GRCm39) missense probably damaging 1.00
R9145:Aoc1l1 UTSW 6 48,952,890 (GRCm39) missense probably benign
R9280:Aoc1l1 UTSW 6 48,955,116 (GRCm39) missense possibly damaging 0.83
R9386:Aoc1l1 UTSW 6 48,952,324 (GRCm39) missense probably benign 0.19
R9492:Aoc1l1 UTSW 6 48,955,540 (GRCm39) missense probably benign 0.02
R9630:Aoc1l1 UTSW 6 48,952,756 (GRCm39) missense probably damaging 0.99
R9654:Aoc1l1 UTSW 6 48,952,837 (GRCm39) missense probably damaging 1.00
X0013:Aoc1l1 UTSW 6 48,954,547 (GRCm39) missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CACTACCATGGCACTGATGG -3'
(R):5'- GCTAAGTGACATGGAGGGTC -3'

Sequencing Primer
(F):5'- ACTGATGGGCCTGTCCGTTATC -3'
(R):5'- GAGGGTCTGATTTCAAGTCCTACC -3'
Posted On 2015-06-24