Incidental Mutation 'R6268:Aoc1l1'
ID 507150
Institutional Source Beutler Lab
Gene Symbol Aoc1l1
Ensembl Gene ENSMUSG00000068536
Gene Name amine oxidase copper containing 1-like 1
Synonyms Doxl2
MMRRC Submission 044439-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6268 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 48951897-48955680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48954616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 585 (Y585N)
Ref Sequence ENSEMBL: ENSMUSP00000139012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090063] [ENSMUST00000184917]
AlphaFold Q6IMK7
Predicted Effect probably benign
Transcript: ENSMUST00000090063
AA Change: Y585N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: Y585N

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: Y585N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: Y585N

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: 98.3%
  • 20x: 95.5%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,545,219 (GRCm39) I78T probably benign Het
Afg3l1 A T 8: 124,219,665 (GRCm39) I398F probably damaging Het
Ahctf1 T C 1: 179,591,048 (GRCm39) H1244R probably benign Het
Ank1 A T 8: 23,599,687 (GRCm39) K797N probably damaging Het
Anxa6 G T 11: 54,877,903 (GRCm39) probably null Het
Ap1b1 T A 11: 4,969,493 (GRCm39) V310E probably damaging Het
C2cd2l T C 9: 44,228,963 (GRCm39) I123V probably damaging Het
Cars2 TCCCC TCCC 8: 11,579,599 (GRCm39) probably null Het
Cfap54 T A 10: 92,874,771 (GRCm39) I542F probably damaging Het
Cfap57 G T 4: 118,426,648 (GRCm39) Y1100* probably null Het
Coq9 A G 8: 95,576,862 (GRCm39) E158G probably benign Het
Cox15 A T 19: 43,728,365 (GRCm39) W303R possibly damaging Het
Cpa5 A G 6: 30,615,172 (GRCm39) Y103C probably damaging Het
Crygn A T 5: 24,961,189 (GRCm39) V39E probably damaging Het
Csf1 G T 3: 107,654,473 (GRCm39) S132R possibly damaging Het
Dapk1 G A 13: 60,909,580 (GRCm39) V1398M possibly damaging Het
Degs2 C A 12: 108,658,839 (GRCm39) V47L probably damaging Het
Dock5 C A 14: 68,027,724 (GRCm39) E1057* probably null Het
Dsg1b C A 18: 20,521,220 (GRCm39) Q26K probably benign Het
Elp1 T C 4: 56,762,305 (GRCm39) Y1098C probably damaging Het
Fam181a T C 12: 103,282,803 (GRCm39) V236A possibly damaging Het
Fam78b C A 1: 166,906,122 (GRCm39) P94T probably damaging Het
Fbxw25 T G 9: 109,483,718 (GRCm39) T165P probably damaging Het
Flg C A 3: 93,195,482 (GRCm39) probably benign Het
Frrs1 G T 3: 116,696,748 (GRCm39) V573F probably damaging Het
Gm7298 A G 6: 121,756,032 (GRCm39) T964A possibly damaging Het
Hoxd9 G T 2: 74,528,433 (GRCm39) V12L probably damaging Het
Kcnt1 A G 2: 25,793,609 (GRCm39) probably null Het
Klhl3 G T 13: 58,161,656 (GRCm39) R480S probably damaging Het
Klhl36 A G 8: 120,597,406 (GRCm39) D369G probably damaging Het
Lama3 T A 18: 12,657,794 (GRCm39) N303K probably damaging Het
Lhcgr T C 17: 89,050,132 (GRCm39) T465A probably damaging Het
Llgl1 T C 11: 60,602,989 (GRCm39) V888A probably benign Het
Lrp1b T A 2: 40,711,729 (GRCm39) T3164S probably benign Het
Mmp3 T G 9: 7,447,622 (GRCm39) D202E possibly damaging Het
Mocs1 C A 17: 49,742,183 (GRCm39) T104K probably damaging Het
Mrpl42 A T 10: 95,332,569 (GRCm39) probably null Het
Mtch2 T C 2: 90,693,992 (GRCm39) C279R probably benign Het
Muc4 A T 16: 32,589,141 (GRCm39) D2836V probably damaging Het
Myh7 T C 14: 55,226,741 (GRCm39) E370G probably benign Het
Naa11 A G 5: 97,540,069 (GRCm39) Y30H probably damaging Het
Ntng1 T C 3: 109,842,351 (GRCm39) T141A probably damaging Het
Or5h26 A C 16: 58,987,656 (GRCm39) probably null Het
Or8c11 T C 9: 38,289,384 (GRCm39) I69T probably benign Het
Or9i14 A T 19: 13,792,671 (GRCm39) Y94* probably null Het
Pcdha12 G A 18: 37,155,477 (GRCm39) C732Y possibly damaging Het
Plekhm2 G A 4: 141,359,652 (GRCm39) Q392* probably null Het
Prr22 G A 17: 57,078,587 (GRCm39) V247M probably damaging Het
Rapgef6 T A 11: 54,540,073 (GRCm39) L716Q probably damaging Het
Rasgrp4 G A 7: 28,842,493 (GRCm39) V246I probably damaging Het
Rhbdd2 C T 5: 135,672,114 (GRCm39) T323I probably benign Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Scgb2b20 A T 7: 33,063,973 (GRCm39) I99K possibly damaging Het
Scyl3 C T 1: 163,773,786 (GRCm39) R324* probably null Het
Slc23a1 T C 18: 35,752,624 (GRCm39) Y551C probably damaging Het
Slc5a5 A T 8: 71,341,264 (GRCm39) S358R probably damaging Het
Sorcs3 T A 19: 48,778,605 (GRCm39) N1007K probably damaging Het
Stxbp4 T A 11: 90,431,027 (GRCm39) K428* probably null Het
Tmem63c T A 12: 87,128,727 (GRCm39) I584N probably damaging Het
Traf3ip3 C T 1: 192,880,344 (GRCm39) probably benign Het
Trgv2 G A 13: 19,521,001 (GRCm39) T31I probably benign Het
Ttll3 C T 6: 113,369,524 (GRCm39) R23C probably benign Het
Ugt2a3 A C 5: 87,477,472 (GRCm39) L309R probably damaging Het
Urb1 A G 16: 90,550,807 (GRCm39) M2015T probably benign Het
Vmn2r14 A C 5: 109,369,283 (GRCm39) S97A possibly damaging Het
Vps13c C A 9: 67,858,731 (GRCm39) T2727K probably benign Het
Xrn1 T A 9: 95,846,067 (GRCm39) I40K probably damaging Het
Zc3h11a A G 1: 133,552,295 (GRCm39) V604A probably benign Het
Zfp410 G A 12: 84,378,612 (GRCm39) R259H probably benign Het
Zfp748 A G 13: 67,690,705 (GRCm39) V185A 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
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'- TGGTTCCAGGCACCAACAAC -3'
(R):5'- GGGCATGAGGATGTACACTCAG -3'

Sequencing Primer
(F):5'- CAGCTTCCACACACTGCAGG -3'
(R):5'- GACTCACACATGGACTCAGAGTGTC -3'
Posted On 2018-03-15