Incidental Mutation 'R1404:Aoc1l1'
ID 160487
Institutional Source Beutler Lab
Gene Symbol Aoc1l1
Ensembl Gene ENSMUSG00000068536
Gene Name amine oxidase copper containing 1-like 1
Synonyms Doxl2
MMRRC Submission 039466-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1404 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 48951897-48955680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48952767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 231 (T231S)
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: T231S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: T231S

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: T231S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: T231S

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
Meta Mutation Damage Score 0.1216 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 96.4%
  • 10x: 81.1%
  • 20x: 48.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 A G 13: 81,031,973 (GRCm39) T69A probably damaging Het
Bbs2 T C 8: 94,808,627 (GRCm39) K360R probably null Het
Cdh8 A T 8: 100,006,250 (GRCm39) N112K probably damaging Het
Ces5a A T 8: 94,228,809 (GRCm39) F474I probably damaging Het
Dync1i1 G A 6: 5,915,876 (GRCm39) D253N probably damaging Het
Fam151b T C 13: 92,610,480 (GRCm39) D103G probably damaging Het
Fam227b A G 2: 125,845,759 (GRCm39) L410P probably damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Ihh A T 1: 74,990,372 (GRCm39) M1K probably null Het
Itga6 A G 2: 71,669,060 (GRCm39) T617A probably benign Het
Itpr1 T A 6: 108,363,609 (GRCm39) C744S probably benign Het
Kif5a T C 10: 127,081,311 (GRCm39) I208V probably benign Het
Lama4 A G 10: 38,937,387 (GRCm39) K659R probably benign Het
Lpin3 T A 2: 160,734,310 (GRCm39) probably null Het
Macf1 T A 4: 123,270,309 (GRCm39) E6612V probably damaging Het
Ncdn T C 4: 126,643,833 (GRCm39) K330E probably benign Het
Neb C T 2: 52,073,287 (GRCm39) D1975N possibly damaging Het
Nell1 T A 7: 50,503,621 (GRCm39) N675K possibly damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,504,026 (GRCm39) probably benign Het
Or4f47 G A 2: 111,972,968 (GRCm39) R226H probably benign Het
Rnf43 A G 11: 87,625,003 (GRCm39) E737G possibly damaging Het
Sardh C A 2: 27,129,473 (GRCm39) W275L probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Sipa1l2 G A 8: 126,176,712 (GRCm39) H1185Y probably damaging Het
Skp2 G A 15: 9,117,012 (GRCm39) Q298* probably null Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Stx12 T A 4: 132,598,960 (GRCm39) I43L probably benign Het
Tmc1 T A 19: 20,793,548 (GRCm39) I538F possibly damaging Het
Tollip T C 7: 141,438,292 (GRCm39) M209V probably benign Het
Ttn A T 2: 76,643,312 (GRCm39) S13202R probably damaging Het
Vmn2r60 T A 7: 41,786,211 (GRCm39) V338D probably damaging Het
Vwa8 T C 14: 79,263,471 (GRCm39) L767P probably damaging Het
Zfp202 C T 9: 40,122,792 (GRCm39) T518I 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
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
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'- TGTCCAAAGCAGAGCAAAGCCTTC -3'
(R):5'- TATGCACAGCCATAGCACCTTGCAC -3'

Sequencing Primer
(F):5'- AAAGGGGTTTTTCCTTGACACC -3'
(R):5'- TTGCACGCCAATCTCATAGG -3'
Posted On 2014-03-14