Incidental Mutation 'IGL01915:Aoc1l2'
ID 179894
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 # IGL01915
Quality Score
Status
Chromosome 6
Chromosomal Location 48906830-48910621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48908582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 527 (D527E)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect probably damaging
Transcript: ENSMUST00000031837
AA Change: D527E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: D527E

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 T C 13: 23,607,938 (GRCm39) E22G unknown Het
Atp11b T G 3: 35,885,612 (GRCm39) H668Q probably damaging Het
Birc6 T A 17: 74,938,715 (GRCm39) V2687D probably benign Het
Cadm3 T C 1: 173,168,675 (GRCm39) T298A possibly damaging Het
Car12 G A 9: 66,670,552 (GRCm39) A174T possibly damaging Het
Ccdc180 T C 4: 45,904,544 (GRCm39) L380P probably damaging Het
Col7a1 A T 9: 108,784,813 (GRCm39) R214W unknown Het
Cyp2d26 T G 15: 82,674,450 (GRCm39) R477S probably benign Het
Dgkd T C 1: 87,853,780 (GRCm39) V541A possibly damaging Het
Dip2b T A 15: 100,076,392 (GRCm39) F797I probably damaging Het
Dot1l A T 10: 80,616,728 (GRCm39) N63I probably damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Ints5 T C 19: 8,874,357 (GRCm39) I772T probably benign Het
Nosip T A 7: 44,726,283 (GRCm39) I230N probably damaging Het
Or2r3 A T 6: 42,448,223 (GRCm39) D296E probably benign Het
Or4d11 A T 19: 12,013,461 (GRCm39) L215Q probably damaging Het
Or5ac22 T A 16: 59,135,473 (GRCm39) Q99L probably damaging Het
Or6c210 G A 10: 129,496,519 (GRCm39) M281I probably benign Het
Orc5 A T 5: 22,727,381 (GRCm39) probably benign Het
Parp1 A G 1: 180,425,907 (GRCm39) I879M probably damaging Het
Pcdh18 A G 3: 49,699,370 (GRCm39) S1031P probably benign Het
Pdzd2 A G 15: 12,371,725 (GRCm39) S2557P probably damaging Het
Rccd1 T C 7: 79,969,966 (GRCm39) probably benign Het
Rsad1 A G 11: 94,439,803 (GRCm39) probably null Het
Samd9l A T 6: 3,373,864 (GRCm39) C1132* probably null Het
Sema6d A G 2: 124,500,491 (GRCm39) probably benign Het
Slc10a5 T C 3: 10,400,580 (GRCm39) N27D probably damaging Het
Slco1a5 C T 6: 142,189,599 (GRCm39) M462I probably benign Het
Tyw5 T C 1: 57,440,628 (GRCm39) T45A probably damaging Het
Usp21 T A 1: 171,110,307 (GRCm39) Q489L possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r20 A G 6: 123,370,924 (GRCm39) S519P 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
IGL02669:Aoc1l2 APN 6 48,908,407 (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 2014-05-07