Incidental Mutation 'R1443:Aoc1l1'
ID |
158647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l1
|
Ensembl Gene |
ENSMUSG00000068536 |
Gene Name |
amine oxidase copper containing 1-like 1 |
Synonyms |
Doxl2 |
MMRRC Submission |
039498-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1443 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 48952849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 258
(Y258F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087517
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
AlphaFold |
Q6IMK7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090063
AA Change: Y258F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000087517 Gene: ENSMUSG00000068536 AA Change: Y258F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.8e-26 |
PFAM |
Pfam:Cu_amine_oxidN3
|
146 |
246 |
2.5e-16 |
PFAM |
Pfam:Cu_amine_oxid
|
298 |
708 |
1.3e-91 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184852
|
SMART Domains |
Protein: ENSMUSP00000139236 Gene: ENSMUSG00000068536
Domain | Start | End | E-Value | Type |
Pfam:Cu_amine_oxid
|
15 |
212 |
2.4e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184917
AA Change: Y258F
PolyPhen 2
Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139012 Gene: ENSMUSG00000068536 AA Change: Y258F
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.1e-21 |
PFAM |
Pfam:Cu_amine_oxidN3
|
146 |
246 |
3.1e-14 |
PFAM |
Pfam:Cu_amine_oxid
|
298 |
711 |
1.4e-96 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr8 |
A |
G |
14: 29,706,056 (GRCm39) |
M99V |
possibly damaging |
Het |
Adamtsl2 |
T |
A |
2: 26,993,078 (GRCm39) |
C703S |
possibly damaging |
Het |
Afap1 |
G |
T |
5: 36,126,005 (GRCm39) |
K333N |
probably damaging |
Het |
Aldh3a2 |
G |
A |
11: 61,155,133 (GRCm39) |
S137L |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,882,379 (GRCm39) |
K107M |
possibly damaging |
Het |
Bltp2 |
T |
A |
11: 78,153,624 (GRCm39) |
S56R |
probably damaging |
Het |
Bmp8a |
G |
T |
4: 123,210,758 (GRCm39) |
S252R |
possibly damaging |
Het |
C7 |
T |
C |
15: 5,088,901 (GRCm39) |
I13M |
probably benign |
Het |
Cblb |
T |
A |
16: 51,959,974 (GRCm39) |
D322E |
possibly damaging |
Het |
Cfap54 |
G |
A |
10: 92,768,583 (GRCm39) |
T180I |
probably damaging |
Het |
Clrn2 |
C |
T |
5: 45,617,453 (GRCm39) |
A108V |
probably damaging |
Het |
Cspg4 |
T |
A |
9: 56,793,796 (GRCm39) |
D510E |
probably damaging |
Het |
Cyp2c40 |
A |
T |
19: 39,766,415 (GRCm39) |
N393K |
possibly damaging |
Het |
Dcaf5 |
T |
C |
12: 80,410,843 (GRCm39) |
Y294C |
probably damaging |
Het |
Dclk3 |
T |
A |
9: 111,298,088 (GRCm39) |
M544K |
probably benign |
Het |
Ell3 |
A |
T |
2: 121,269,946 (GRCm39) |
F388I |
probably damaging |
Het |
Fam78b |
A |
G |
1: 166,906,329 (GRCm39) |
I163V |
probably damaging |
Het |
Gnptab |
T |
C |
10: 88,269,943 (GRCm39) |
L882P |
probably damaging |
Het |
Herc2 |
A |
T |
7: 55,854,481 (GRCm39) |
D3802V |
possibly damaging |
Het |
Hs3st5 |
A |
G |
10: 36,709,410 (GRCm39) |
E315G |
probably benign |
Het |
Idh3b |
A |
T |
2: 130,125,974 (GRCm39) |
|
probably null |
Het |
Lama4 |
G |
A |
10: 38,949,639 (GRCm39) |
E911K |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,404,800 (GRCm39) |
I436T |
probably damaging |
Het |
Mgam |
C |
A |
6: 40,736,714 (GRCm39) |
S871* |
probably null |
Het |
Mtmr7 |
A |
G |
8: 41,013,923 (GRCm39) |
S212P |
probably damaging |
Het |
Mylk2 |
A |
G |
2: 152,761,336 (GRCm39) |
T480A |
probably damaging |
Het |
Myo3a |
A |
T |
2: 22,287,437 (GRCm39) |
N191I |
probably damaging |
Het |
Nanog |
C |
T |
6: 122,688,734 (GRCm39) |
S105F |
probably damaging |
Het |
Nanos2 |
A |
G |
7: 18,721,564 (GRCm39) |
Y12C |
probably damaging |
Het |
Nsg1 |
C |
T |
5: 38,312,987 (GRCm39) |
V71I |
probably benign |
Het |
Or10g3 |
A |
T |
14: 52,610,408 (GRCm39) |
I34N |
probably damaging |
Het |
Or13a1 |
T |
C |
6: 116,471,386 (GRCm39) |
L272S |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or51a42 |
A |
T |
7: 103,707,930 (GRCm39) |
I293N |
probably damaging |
Het |
Or5b105 |
G |
T |
19: 13,080,568 (GRCm39) |
Y33* |
probably null |
Het |
Pcdhb17 |
A |
G |
18: 37,619,701 (GRCm39) |
Q497R |
probably benign |
Het |
Pcsk7 |
C |
A |
9: 45,837,284 (GRCm39) |
P536Q |
probably damaging |
Het |
Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
Phyhip |
A |
G |
14: 70,704,731 (GRCm39) |
K317E |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,604,782 (GRCm39) |
G1178R |
probably damaging |
Het |
Ppp1r9a |
G |
A |
6: 5,057,557 (GRCm39) |
G544D |
probably damaging |
Het |
Ptpn3 |
T |
C |
4: 57,225,775 (GRCm39) |
D480G |
probably benign |
Het |
Ptprn2 |
A |
T |
12: 117,217,235 (GRCm39) |
K918N |
probably damaging |
Het |
Rab42 |
T |
C |
4: 132,029,658 (GRCm39) |
D188G |
probably benign |
Het |
Rasgrf2 |
C |
A |
13: 92,131,795 (GRCm39) |
D20Y |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,794,152 (GRCm39) |
T942I |
probably benign |
Het |
Sbpl |
T |
C |
17: 24,172,328 (GRCm39) |
K197R |
unknown |
Het |
Slc44a1 |
T |
A |
4: 53,561,069 (GRCm39) |
V595E |
probably damaging |
Het |
Slc6a19 |
A |
G |
13: 73,832,463 (GRCm39) |
M410T |
probably damaging |
Het |
Sntb1 |
A |
T |
15: 55,511,351 (GRCm39) |
L411H |
probably damaging |
Het |
Synj2 |
A |
G |
17: 6,073,940 (GRCm39) |
K245E |
probably damaging |
Het |
Tasor2 |
T |
C |
13: 3,625,543 (GRCm39) |
K1469R |
probably benign |
Het |
Tmem131 |
G |
A |
1: 36,864,559 (GRCm39) |
T558I |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,757,288 (GRCm39) |
S1078T |
unknown |
Het |
Trmu |
T |
A |
15: 85,781,302 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,721,430 (GRCm39) |
|
probably benign |
Het |
Tyw3 |
T |
C |
3: 154,293,160 (GRCm39) |
T172A |
probably benign |
Het |
Vldlr |
T |
C |
19: 27,217,121 (GRCm39) |
I348T |
possibly damaging |
Het |
Zfp114 |
A |
G |
7: 23,877,194 (GRCm39) |
D12G |
probably damaging |
Het |
|
Other mutations in Aoc1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00950:Aoc1l1
|
APN |
6 |
48,955,065 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL00985:Aoc1l1
|
APN |
6 |
48,954,481 (GRCm39) |
missense |
probably benign |
|
IGL01556:Aoc1l1
|
APN |
6 |
48,952,618 (GRCm39) |
missense |
possibly damaging |
0.58 |
IGL02083:Aoc1l1
|
APN |
6 |
48,953,194 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02135:Aoc1l1
|
APN |
6 |
48,952,498 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02744:Aoc1l1
|
APN |
6 |
48,952,249 (GRCm39) |
missense |
probably benign |
0.15 |
IGL03005:Aoc1l1
|
APN |
6 |
48,953,480 (GRCm39) |
nonsense |
probably null |
|
R0306:Aoc1l1
|
UTSW |
6 |
48,953,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R0380:Aoc1l1
|
UTSW |
6 |
48,952,773 (GRCm39) |
missense |
probably benign |
|
R0598:Aoc1l1
|
UTSW |
6 |
48,952,471 (GRCm39) |
missense |
probably benign |
0.36 |
R0948:Aoc1l1
|
UTSW |
6 |
48,953,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R1404:Aoc1l1
|
UTSW |
6 |
48,952,767 (GRCm39) |
missense |
probably benign |
0.03 |
R1404:Aoc1l1
|
UTSW |
6 |
48,952,767 (GRCm39) |
missense |
probably benign |
0.03 |
R1432:Aoc1l1
|
UTSW |
6 |
48,952,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Aoc1l1
|
UTSW |
6 |
48,952,398 (GRCm39) |
missense |
probably damaging |
0.98 |
R1625:Aoc1l1
|
UTSW |
6 |
48,952,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R1872:Aoc1l1
|
UTSW |
6 |
48,952,554 (GRCm39) |
missense |
probably benign |
0.00 |
R1960:Aoc1l1
|
UTSW |
6 |
48,952,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R2031:Aoc1l1
|
UTSW |
6 |
48,952,789 (GRCm39) |
missense |
probably damaging |
0.99 |
R2049:Aoc1l1
|
UTSW |
6 |
48,954,689 (GRCm39) |
nonsense |
probably null |
|
R2086:Aoc1l1
|
UTSW |
6 |
48,954,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Aoc1l1
|
UTSW |
6 |
48,952,225 (GRCm39) |
missense |
probably benign |
0.00 |
R2145:Aoc1l1
|
UTSW |
6 |
48,953,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R2152:Aoc1l1
|
UTSW |
6 |
48,953,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R2255:Aoc1l1
|
UTSW |
6 |
48,952,891 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2973:Aoc1l1
|
UTSW |
6 |
48,953,358 (GRCm39) |
missense |
probably benign |
0.07 |
R2974:Aoc1l1
|
UTSW |
6 |
48,953,358 (GRCm39) |
missense |
probably benign |
0.07 |
R3125:Aoc1l1
|
UTSW |
6 |
48,952,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R4321:Aoc1l1
|
UTSW |
6 |
48,953,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R4367:Aoc1l1
|
UTSW |
6 |
48,953,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R4532:Aoc1l1
|
UTSW |
6 |
48,955,101 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4575:Aoc1l1
|
UTSW |
6 |
48,954,502 (GRCm39) |
nonsense |
probably null |
|
R4611:Aoc1l1
|
UTSW |
6 |
48,952,090 (GRCm39) |
missense |
probably benign |
0.39 |
R4823:Aoc1l1
|
UTSW |
6 |
48,952,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Aoc1l1
|
UTSW |
6 |
48,952,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R5520:Aoc1l1
|
UTSW |
6 |
48,952,728 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5698:Aoc1l1
|
UTSW |
6 |
48,953,256 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5765:Aoc1l1
|
UTSW |
6 |
48,955,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R6024:Aoc1l1
|
UTSW |
6 |
48,953,030 (GRCm39) |
missense |
possibly damaging |
0.71 |
R6061:Aoc1l1
|
UTSW |
6 |
48,953,535 (GRCm39) |
missense |
probably benign |
0.02 |
R6268:Aoc1l1
|
UTSW |
6 |
48,954,616 (GRCm39) |
missense |
probably benign |
0.01 |
R6564:Aoc1l1
|
UTSW |
6 |
48,954,509 (GRCm39) |
missense |
probably benign |
0.00 |
R6640:Aoc1l1
|
UTSW |
6 |
48,954,605 (GRCm39) |
missense |
probably benign |
0.21 |
R7131:Aoc1l1
|
UTSW |
6 |
48,953,306 (GRCm39) |
nonsense |
probably null |
|
R8678:Aoc1l1
|
UTSW |
6 |
48,953,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8932:Aoc1l1
|
UTSW |
6 |
48,952,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R9145:Aoc1l1
|
UTSW |
6 |
48,952,890 (GRCm39) |
missense |
probably benign |
|
R9280:Aoc1l1
|
UTSW |
6 |
48,955,116 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9386:Aoc1l1
|
UTSW |
6 |
48,952,324 (GRCm39) |
missense |
probably benign |
0.19 |
R9492:Aoc1l1
|
UTSW |
6 |
48,955,540 (GRCm39) |
missense |
probably benign |
0.02 |
R9630:Aoc1l1
|
UTSW |
6 |
48,952,756 (GRCm39) |
missense |
probably damaging |
0.99 |
R9654:Aoc1l1
|
UTSW |
6 |
48,952,837 (GRCm39) |
missense |
probably damaging |
1.00 |
X0013:Aoc1l1
|
UTSW |
6 |
48,954,547 (GRCm39) |
missense |
probably benign |
0.09 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGCGCATTGTAAAAGATCGCC -3'
(R):5'- TAGCACCTTGCACGCCAATCTC -3'
Sequencing Primer
(F):5'- CATTGTAAAAGATCGCCTGCTAC -3'
(R):5'- TTGCACGCCAATCTCATAGG -3'
|
Posted On |
2014-03-14 |