Incidental Mutation 'R4367:Aoc1l1'
ID 325798
Institutional Source Beutler Lab
Gene Symbol Aoc1l1
Ensembl Gene ENSMUSG00000068536
Gene Name amine oxidase copper containing 1-like 1
Synonyms Doxl2
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48951897-48955680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48953064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 330 (S330P)
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: S330P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: S330P

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: S330P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: S330P

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 0.3421 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dhx38 C T 8: 110,279,763 (GRCm39) V976I probably damaging Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign 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
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'- GTCCCAAGAACACAGAGCTG -3'
(R):5'- CCATCAGTGCCATGGTAGTG -3'

Sequencing Primer
(F):5'- GAGCTGCCACAAGTCTTTAAC -3'
(R):5'- CTCTGGACAGTTGATGCCAG -3'
Posted On 2015-07-06