Incidental Mutation 'R6640:Aoc1l1'
ID 525714
Institutional Source Beutler Lab
Gene Symbol Aoc1l1
Ensembl Gene ENSMUSG00000068536
Gene Name amine oxidase copper containing 1-like 1
Synonyms Doxl2
MMRRC Submission 044761-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6640 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48951897-48955680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48954605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 581 (D581G)
Ref Sequence ENSEMBL: ENSMUSP00000087517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090063] [ENSMUST00000184917]
AlphaFold Q6IMK7
Predicted Effect probably benign
Transcript: ENSMUST00000090063
AA Change: D581G

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: D581G

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 benign
Transcript: ENSMUST00000184917
AA Change: D581G

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: D581G

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 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 97% (31/32)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,530,248 (GRCm39) N936K probably benign Het
Abca2 A T 2: 25,337,015 (GRCm39) Y2318F possibly damaging Het
Aldh1b1 A G 4: 45,803,868 (GRCm39) T469A possibly damaging Het
Ccdc136 A G 6: 29,412,959 (GRCm39) D382G possibly damaging Het
Dapk1 A G 13: 60,864,628 (GRCm39) K141E probably damaging Het
Dnah6 A T 6: 73,001,276 (GRCm39) W3973R probably damaging Het
Dock10 G T 1: 80,511,555 (GRCm39) S1518* probably null Het
Elovl5 C A 9: 77,887,195 (GRCm39) Y195* probably null Het
Fbxl21 T A 13: 56,684,822 (GRCm39) W309R probably damaging Het
Gm10801 C CGTG 2: 98,494,152 (GRCm39) probably null Het
Gpx1 A G 9: 108,217,295 (GRCm39) D133G probably damaging Het
Hoxd1 T A 2: 74,593,606 (GRCm39) V54E probably damaging Het
Kcnh3 T C 15: 99,139,649 (GRCm39) V876A probably benign Het
Klri2 G C 6: 129,709,158 (GRCm39) F231L probably benign Het
Mogat1 T G 1: 78,500,411 (GRCm39) S158R probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Or2ag13 T A 7: 106,313,247 (GRCm39) I214F probably damaging Het
Or8k16 T A 2: 85,520,279 (GRCm39) C169S probably damaging Het
Otog G A 7: 45,911,167 (GRCm39) A673T possibly damaging Het
Pigm T C 1: 172,205,254 (GRCm39) V330A probably damaging Het
Rab33b A G 3: 51,391,900 (GRCm39) T50A possibly damaging Het
Raver2 C T 4: 100,988,500 (GRCm39) P371L probably damaging Het
Rpl15-ps6 G T 15: 52,341,016 (GRCm39) noncoding transcript Het
Sh3rf2 T A 18: 42,234,705 (GRCm39) Y163N probably damaging Het
Slc1a1 T C 19: 28,871,970 (GRCm39) probably null Het
Slc6a18 T A 13: 73,812,401 (GRCm39) Y563F possibly damaging Het
Sp3 A G 2: 72,801,458 (GRCm39) L185P possibly damaging Het
Thbs2 T C 17: 14,893,630 (GRCm39) D850G possibly damaging Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tmtc2 T A 10: 105,409,610 (GRCm39) M1L probably benign Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Trpm3 T A 19: 22,955,946 (GRCm39) I1126K probably damaging Het
Ugt1a6b A C 1: 88,035,516 (GRCm39) T285P probably benign Het
Vps13b A G 15: 35,617,842 (GRCm39) T1181A possibly 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
R4321:Aoc1l1 UTSW 6 48,953,456 (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
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'- TGGTTCCAGGCACCAACAAC -3'
(R):5'- GGGCATGAGGATGTACACTC -3'

Sequencing Primer
(F):5'- CAGCTTCCACACACTGCAGG -3'
(R):5'- GCATGAGGATGTACACTCAGACTC -3'
Posted On 2018-06-22