Incidental Mutation 'R6733:Aoc1l2'
ID 530137
Institutional Source Beutler Lab
Gene Symbol Aoc1l2
Ensembl Gene ENSMUSG00000029813
Gene Name amine oxidase copper containing 1-like 2
Synonyms 1600015I10Rik, Doxl1
MMRRC Submission 044851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R6733 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 48906830-48910621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 48907464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 155 (S155P)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect probably damaging
Transcript: ENSMUST00000031837
AA Change: S155P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: S155P

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 14,043,615 (GRCm39) H358Y probably benign Het
Ccdc125 T A 13: 100,830,995 (GRCm39) M394K probably benign Het
Cfd C A 10: 79,727,636 (GRCm39) H103Q probably damaging Het
Cnot2 G A 10: 116,334,058 (GRCm39) P371S possibly damaging Het
Dedd2 T C 7: 24,903,332 (GRCm39) E209G probably benign Het
Dnah3 A G 7: 119,522,197 (GRCm39) S3999P probably benign Het
Fer1l5 T C 1: 36,447,753 (GRCm39) probably null Het
H6pd A T 4: 150,069,578 (GRCm39) probably null Het
Il25 T C 14: 55,170,490 (GRCm39) I21T probably benign Het
Kmt2c C T 5: 25,614,291 (GRCm39) S143N probably damaging Het
Marveld3 T C 8: 110,688,681 (GRCm39) D20G possibly damaging Het
Msl1 A G 11: 98,690,882 (GRCm39) E122G probably damaging Het
Obscn A T 11: 58,919,421 (GRCm39) V6861E probably damaging Het
Or5b97 A T 19: 12,878,605 (GRCm39) C180S probably damaging Het
Phc1 A T 6: 122,313,845 (GRCm39) M29K possibly damaging Het
Pkd1l3 T A 8: 110,375,126 (GRCm39) probably null Het
Prl5a1 G T 13: 28,333,919 (GRCm39) V141F possibly damaging Het
Psg20 A T 7: 18,408,547 (GRCm39) V391D probably damaging Het
Ptprh T C 7: 4,606,043 (GRCm39) probably null Het
Rasa3 T C 8: 13,630,037 (GRCm39) E580G possibly damaging Het
Ror1 T C 4: 100,283,252 (GRCm39) V439A probably benign Het
Rsl1 A G 13: 67,325,206 (GRCm39) T81A probably benign Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Slc22a8 T C 19: 8,586,656 (GRCm39) L389P probably benign Het
Slc6a11 A G 6: 114,111,859 (GRCm39) Y142C probably damaging Het
Syt9 C T 7: 107,024,503 (GRCm39) T132I probably damaging Het
Thop1 T A 10: 80,917,246 (GRCm39) I583N probably damaging Het
Tom1l1 A G 11: 90,575,886 (GRCm39) probably null Het
Unk A G 11: 115,941,581 (GRCm39) D276G probably damaging Het
Zfp942 C A 17: 22,147,733 (GRCm39) E299* probably null Het
Zkscan6 A G 11: 65,719,461 (GRCm39) T494A probably damaging Het
Zscan25 T A 5: 145,227,723 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CATAGAAATGCTGCTGCCCG -3'
(R):5'- GTTGCAACATGAACCAGCTAC -3'

Sequencing Primer
(F):5'- AATGCTGCTGCCCGATAAG -3'
(R):5'- CTACAGCGCTGGTCAGATTTTG -3'
Posted On 2018-08-01