Incidental Mutation 'IGL02669:Aoc1l2'
ID 302854
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aoc1l2
Ensembl Gene ENSMUSG00000029813
Gene Name amine oxidase copper containing 1-like 2
Synonyms 1600015I10Rik, Doxl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # IGL02669
Quality Score
Status
Chromosome 6
Chromosomal Location 48906830-48910621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48908407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 469 (Y469C)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect probably damaging
Transcript: ENSMUST00000031837
AA Change: Y469C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: Y469C

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
Pfam:Cu_amine_oxidN2 50 136 1.7e-25 PFAM
Pfam:Cu_amine_oxidN3 152 252 3.5e-16 PFAM
Pfam:Cu_amine_oxid 306 708 7.1e-94 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158710
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T A 16: 19,702,505 (GRCm39) noncoding transcript Het
Acap1 G A 11: 69,785,421 (GRCm39) probably benign Het
Adam7 T C 14: 68,745,343 (GRCm39) Y627C probably damaging Het
Agrn C T 4: 156,259,018 (GRCm39) probably benign Het
Bace2 T C 16: 97,238,093 (GRCm39) *515R probably null Het
Baiap3 C T 17: 25,463,322 (GRCm39) V958M probably damaging Het
Brms1l A T 12: 55,888,401 (GRCm39) D63V probably damaging Het
Cnksr1 A T 4: 133,957,774 (GRCm39) I435N probably damaging Het
Col14a1 G A 15: 55,282,178 (GRCm39) G813E unknown Het
Cpne6 A G 14: 55,751,283 (GRCm39) N201S probably benign Het
Dnajc12 A G 10: 63,233,071 (GRCm39) S71G probably damaging Het
Dpp3 A T 19: 4,973,710 (GRCm39) probably null Het
E2f3 A G 13: 30,100,974 (GRCm39) S239P probably benign Het
Eif3e T A 15: 43,146,088 (GRCm39) M1L probably benign Het
Erap1 A G 13: 74,823,987 (GRCm39) T867A probably benign Het
Erlin1 G T 19: 44,027,658 (GRCm39) A260E probably damaging Het
Esrp1 A G 4: 11,386,324 (GRCm39) V38A possibly damaging Het
Foxn1 T C 11: 78,261,986 (GRCm39) R128G probably damaging Het
Gnb3 A G 6: 124,814,688 (GRCm39) L70P probably benign Het
Gon4l T C 3: 88,802,806 (GRCm39) V1139A probably damaging Het
Gpt2 G T 8: 86,249,908 (GRCm39) M463I probably benign Het
Gtpbp3 C A 8: 71,943,546 (GRCm39) A201D probably damaging Het
Jaml A C 9: 45,015,489 (GRCm39) K331T possibly damaging Het
Kntc1 G A 5: 123,893,727 (GRCm39) probably benign Het
Ksr2 A G 5: 117,693,446 (GRCm39) K298R probably damaging Het
Mfge8 T C 7: 78,795,429 (GRCm39) D46G probably benign Het
Ncam2 T A 16: 81,314,429 (GRCm39) N468K probably benign Het
Nup88 A G 11: 70,847,110 (GRCm39) M300T probably damaging Het
Or4c118 T A 2: 88,974,564 (GRCm39) K268* probably null Het
Or4k48 A T 2: 111,476,236 (GRCm39) Y35* probably null Het
Or52b4 A G 7: 102,184,868 (GRCm39) M305V probably benign Het
Prdm1 A T 10: 44,315,880 (GRCm39) M752K probably benign Het
Prl3b1 A T 13: 27,429,795 (GRCm39) M78L probably benign Het
Ralgps2 T C 1: 156,660,268 (GRCm39) E268G probably damaging Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Slc4a5 A G 6: 83,240,525 (GRCm39) D279G possibly damaging Het
Tanc1 T A 2: 59,630,330 (GRCm39) I770K probably damaging Het
Tbl2 G A 5: 135,181,852 (GRCm39) R64H probably damaging Het
Tg T A 15: 66,620,575 (GRCm39) probably benign Het
Tmprss13 A T 9: 45,243,824 (GRCm39) I187F probably benign Het
Tubb3 T C 8: 124,147,856 (GRCm39) L263P probably damaging Het
Vmn2r109 T G 17: 20,774,518 (GRCm39) D279A possibly damaging Het
Vps33b A G 7: 79,925,786 (GRCm39) probably benign Het
Yeats2 A G 16: 20,005,033 (GRCm39) S338G probably benign Het
Zfp142 T C 1: 74,610,432 (GRCm39) Q1121R probably benign Het
Zic1 G T 9: 91,246,486 (GRCm39) H195Q possibly damaging Het
Other mutations in Aoc1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Aoc1l2 APN 6 48,907,974 (GRCm39) missense probably damaging 1.00
IGL01347:Aoc1l2 APN 6 48,909,477 (GRCm39) missense probably benign 0.02
IGL01751:Aoc1l2 APN 6 48,907,522 (GRCm39) missense possibly damaging 0.79
IGL01915:Aoc1l2 APN 6 48,908,582 (GRCm39) missense probably damaging 1.00
IGL03033:Aoc1l2 APN 6 48,909,452 (GRCm39) missense probably benign 0.00
IGL03242:Aoc1l2 APN 6 48,909,479 (GRCm39) missense possibly damaging 0.68
R0096:Aoc1l2 UTSW 6 48,908,122 (GRCm39) missense probably damaging 1.00
R0096:Aoc1l2 UTSW 6 48,908,122 (GRCm39) missense probably damaging 1.00
R0448:Aoc1l2 UTSW 6 48,909,991 (GRCm39) missense probably damaging 1.00
R1488:Aoc1l2 UTSW 6 48,910,381 (GRCm39) missense possibly damaging 0.91
R1498:Aoc1l2 UTSW 6 48,908,305 (GRCm39) missense probably benign 0.00
R1520:Aoc1l2 UTSW 6 48,908,231 (GRCm39) nonsense probably null
R1922:Aoc1l2 UTSW 6 48,908,220 (GRCm39) missense probably benign 0.00
R1992:Aoc1l2 UTSW 6 48,907,703 (GRCm39) missense probably damaging 1.00
R1997:Aoc1l2 UTSW 6 48,909,363 (GRCm39) missense probably damaging 0.98
R2021:Aoc1l2 UTSW 6 48,908,385 (GRCm39) missense probably damaging 1.00
R3771:Aoc1l2 UTSW 6 48,908,130 (GRCm39) missense probably damaging 1.00
R4208:Aoc1l2 UTSW 6 48,908,581 (GRCm39) missense probably damaging 1.00
R4790:Aoc1l2 UTSW 6 48,907,486 (GRCm39) missense probably damaging 0.99
R5114:Aoc1l2 UTSW 6 48,908,292 (GRCm39) missense probably benign 0.02
R5610:Aoc1l2 UTSW 6 48,907,953 (GRCm39) missense probably benign 0.00
R5823:Aoc1l2 UTSW 6 48,907,486 (GRCm39) missense probably damaging 0.99
R5847:Aoc1l2 UTSW 6 48,910,412 (GRCm39) missense probably damaging 1.00
R6233:Aoc1l2 UTSW 6 48,907,899 (GRCm39) missense probably benign
R6357:Aoc1l2 UTSW 6 48,907,908 (GRCm39) missense probably benign 0.00
R6694:Aoc1l2 UTSW 6 48,907,480 (GRCm39) missense probably benign 0.21
R6733:Aoc1l2 UTSW 6 48,907,464 (GRCm39) missense probably damaging 1.00
R6894:Aoc1l2 UTSW 6 48,907,596 (GRCm39) missense probably damaging 1.00
R6898:Aoc1l2 UTSW 6 48,907,975 (GRCm39) missense probably damaging 0.97
R6916:Aoc1l2 UTSW 6 48,907,987 (GRCm39) missense probably benign 0.01
R7242:Aoc1l2 UTSW 6 48,908,062 (GRCm39) missense probably damaging 1.00
R7762:Aoc1l2 UTSW 6 48,909,620 (GRCm39) missense probably benign 0.07
R8257:Aoc1l2 UTSW 6 48,909,431 (GRCm39) missense probably benign 0.04
R8391:Aoc1l2 UTSW 6 48,909,602 (GRCm39) missense probably damaging 0.96
R8839:Aoc1l2 UTSW 6 48,907,974 (GRCm39) missense probably damaging 1.00
R8863:Aoc1l2 UTSW 6 48,907,042 (GRCm39) missense probably benign 0.00
R9266:Aoc1l2 UTSW 6 48,907,171 (GRCm39) missense probably benign 0.00
R9274:Aoc1l2 UTSW 6 48,907,341 (GRCm39) missense possibly damaging 0.94
R9380:Aoc1l2 UTSW 6 48,910,064 (GRCm39) missense probably damaging 1.00
R9382:Aoc1l2 UTSW 6 48,907,298 (GRCm39) missense probably benign 0.08
R9562:Aoc1l2 UTSW 6 48,907,909 (GRCm39) missense probably benign 0.01
R9565:Aoc1l2 UTSW 6 48,907,909 (GRCm39) missense probably benign 0.01
R9703:Aoc1l2 UTSW 6 48,909,629 (GRCm39) missense probably benign 0.01
R9781:Aoc1l2 UTSW 6 48,907,660 (GRCm39) missense possibly damaging 0.58
X0062:Aoc1l2 UTSW 6 48,910,066 (GRCm39) missense possibly damaging 0.55
Z1176:Aoc1l2 UTSW 6 48,909,402 (GRCm39) missense probably benign 0.38
Posted On 2015-04-16