Incidental Mutation 'R5847:Aoc1l2'
ID 453667
Institutional Source Beutler Lab
Gene Symbol Aoc1l2
Ensembl Gene ENSMUSG00000029813
Gene Name amine oxidase copper containing 1-like 2
Synonyms 1600015I10Rik, Doxl1
MMRRC Submission 044065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.192) question?
Stock # R5847 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 48906830-48910621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48910412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 701 (F701L)
Ref Sequence ENSEMBL: ENSMUSP00000031837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031837]
AlphaFold E9Q745
Predicted Effect probably damaging
Transcript: ENSMUST00000031837
AA Change: F701L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031837
Gene: ENSMUSG00000029813
AA Change: F701L

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.4%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,302,521 (GRCm39) Y964F probably damaging Het
Akap3 T A 6: 126,842,521 (GRCm39) L380Q probably damaging Het
Alpk1 A G 3: 127,473,723 (GRCm39) I760T probably benign Het
Arhgap20 G A 9: 51,736,276 (GRCm39) probably benign Het
Cacng3 T C 7: 122,361,532 (GRCm39) F113S possibly damaging Het
Ccdc158 G T 5: 92,775,339 (GRCm39) N955K probably benign Het
Ccdc63 T A 5: 122,254,908 (GRCm39) M368L possibly damaging Het
Cnot2 T C 10: 116,363,851 (GRCm39) T18A probably damaging Het
Ctnna2 A T 6: 76,950,820 (GRCm39) D550E possibly damaging Het
Cyp2c37 C T 19: 40,000,176 (GRCm39) R433W probably damaging Het
Dact2 A G 17: 14,419,450 (GRCm39) S103P probably damaging Het
Dek A G 13: 47,255,077 (GRCm39) probably benign Het
Dnah9 CAGTTGCTTAAA CA 11: 65,986,066 (GRCm39) probably null Het
Dock4 A G 12: 40,671,250 (GRCm39) Y23C probably damaging Het
Edar T A 10: 58,439,001 (GRCm39) S344C probably damaging Het
Epg5 T C 18: 78,073,270 (GRCm39) V2431A probably benign Het
Evc2 C T 5: 37,562,068 (GRCm39) probably benign Het
Idh3b A T 2: 130,125,948 (GRCm39) D41E probably benign Het
Igkv8-24 A T 6: 70,193,956 (GRCm39) V84D probably damaging Het
Iqca1l A T 5: 24,749,164 (GRCm39) L778Q probably benign Het
Mgam T C 6: 40,660,989 (GRCm39) I1118T probably benign Het
Mtmr3 A G 11: 4,432,925 (GRCm39) V1116A probably damaging Het
Myoc A G 1: 162,466,936 (GRCm39) Y35C probably damaging Het
Ncr1 A T 7: 4,347,573 (GRCm39) D246V probably benign Het
Nphp3 A G 9: 103,880,236 (GRCm39) E86G probably damaging Het
Or2l13b A T 16: 19,349,076 (GRCm39) V198E probably damaging Het
Or52e5 A T 7: 104,719,064 (GRCm39) Y130F probably benign Het
Or8h7 A C 2: 86,720,676 (GRCm39) V281G probably damaging Het
Pbld1 A T 10: 62,912,193 (GRCm39) I275L probably benign Het
Pde12 A G 14: 26,386,786 (GRCm39) V574A possibly damaging Het
Pdxk G T 10: 78,280,872 (GRCm39) D189E probably benign Het
Pkhd1 C A 1: 20,444,960 (GRCm39) E2276* probably null Het
Ppp1r10 A G 17: 36,237,739 (GRCm39) N237S possibly damaging Het
Rheb T A 5: 25,012,067 (GRCm39) Y131F probably benign Het
Rpgrip1l T C 8: 92,031,613 (GRCm39) D88G probably damaging Het
Scgb2b33 T C 7: 32,812,239 (GRCm39) noncoding transcript Het
Snx9 C A 17: 5,974,896 (GRCm39) N461K possibly damaging Het
Tbc1d2b C A 9: 90,091,777 (GRCm39) V842F probably damaging Het
Tgfbi G A 13: 56,784,418 (GRCm39) E615K possibly damaging Het
Tmem51 A G 4: 141,759,346 (GRCm39) M134T probably damaging Het
Tox4 A G 14: 52,524,241 (GRCm39) D125G probably damaging Het
Trappc3 A T 4: 126,167,771 (GRCm39) N110I probably damaging Het
Trim11 T A 11: 58,881,419 (GRCm39) D437E probably damaging Het
Ttc23l T C 15: 10,537,682 (GRCm39) N196S probably benign Het
Wnk1 C A 6: 119,969,369 (GRCm39) G362V probably damaging Het
Wwc1 A G 11: 35,758,153 (GRCm39) F731S probably damaging Het
Wwp1 A T 4: 19,662,174 (GRCm39) D140E possibly damaging Het
Zfp24 G A 18: 24,151,095 (GRCm39) P17L possibly damaging Het
Zfp354b T C 11: 50,814,043 (GRCm39) E294G probably damaging Het
Zfp853 C T 5: 143,274,424 (GRCm39) V399M unknown Het
Zfp868 T C 8: 70,064,303 (GRCm39) H344R probably 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
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
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
Predicted Primers PCR Primer
(F):5'- ATCCCATGAAGTCTGTGGGC -3'
(R):5'- TTGAATGTAACCATGGCCACC -3'

Sequencing Primer
(F):5'- TCTGTGGGCACGGCAAGTC -3'
(R):5'- TGGAGCCCATTCCCTGCAC -3'
Posted On 2017-02-10