Incidental Mutation 'IGL01751:Aoc1l2'
ID 153123
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 # IGL01751
Quality Score
Status
Chromosome 6
Chromosomal Location 48906830-48910621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 48907522 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 174 (H174L)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect possibly damaging
Transcript: ENSMUST00000031837
AA Change: H174L

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: H174L

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 144,979,981 (GRCm39) probably null Het
Abtb3 C A 10: 85,490,366 (GRCm39) Q1011K probably damaging Het
Auts2 G T 5: 131,501,198 (GRCm39) Q72K probably damaging Het
Ccdc7b A T 8: 129,863,049 (GRCm39) probably benign Het
Frem3 A G 8: 81,342,372 (GRCm39) E1555G probably benign Het
Gm5263 T G 1: 146,296,302 (GRCm39) noncoding transcript Het
Gm5828 A G 1: 16,840,208 (GRCm39) noncoding transcript Het
Gm6605 T C 7: 38,147,630 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,516 (GRCm39) N576I possibly damaging Het
Hps3 T C 3: 20,065,130 (GRCm39) D638G probably damaging Het
Igdcc4 A T 9: 65,039,014 (GRCm39) N887I probably damaging Het
Itpkc G A 7: 26,912,491 (GRCm39) probably benign Het
Mfge8 A G 7: 78,786,403 (GRCm39) probably null Het
Mrc2 G T 11: 105,216,560 (GRCm39) L116F probably benign Het
Necab1 T C 4: 14,978,171 (GRCm39) D226G probably damaging Het
Neurod2 T C 11: 98,218,201 (GRCm39) E321G possibly damaging Het
Obp2b G T 2: 25,627,760 (GRCm39) V59L possibly damaging Het
Olr1 T C 6: 129,465,811 (GRCm39) N65S possibly damaging Het
Or14c39 A T 7: 86,343,997 (GRCm39) Q111L probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5d43 A T 2: 88,104,977 (GRCm39) C139S possibly damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rock1 A G 18: 10,079,113 (GRCm39) probably null Het
Scn3a T A 2: 65,291,596 (GRCm39) M1717L possibly damaging Het
Smg7 T C 1: 152,719,812 (GRCm39) D903G possibly damaging Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Ttll9 A T 2: 152,825,025 (GRCm39) N68I probably damaging Het
Ttn A G 2: 76,567,943 (GRCm39) V25904A possibly damaging Het
Uaca G A 9: 60,777,139 (GRCm39) V507M probably damaging Het
Vmn1r195 G T 13: 22,463,421 (GRCm39) C297F probably benign Het
Zdhhc2 G A 8: 40,926,042 (GRCm39) A346T probably benign 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
IGL01915:Aoc1l2 APN 6 48,908,582 (GRCm39) missense probably damaging 1.00
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 2014-02-04