Incidental Mutation 'R6061:Aoc1l1'
ID |
483228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Aoc1l1
|
Ensembl Gene |
ENSMUSG00000068536 |
Gene Name |
amine oxidase copper containing 1-like 1 |
Synonyms |
Doxl2 |
MMRRC Submission |
044226-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6061 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 48953535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 487
(I487L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139012
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
AlphaFold |
Q6IMK7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090063
AA Change: I487L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000087517 Gene: ENSMUSG00000068536 AA Change: I487L
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: I487L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000139012 Gene: ENSMUSG00000068536 AA Change: I487L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204745
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
A |
C |
6: 128,545,675 (GRCm39) |
F484C |
probably damaging |
Het |
Cdsn |
A |
G |
17: 35,865,803 (GRCm39) |
S111G |
unknown |
Het |
Ctnnal1 |
T |
C |
4: 56,812,349 (GRCm39) |
T726A |
probably benign |
Het |
Cyp2j11 |
T |
A |
4: 96,236,853 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
T |
A |
8: 62,476,275 (GRCm39) |
M1541K |
probably null |
Het |
Dnah14 |
C |
T |
1: 181,536,616 (GRCm39) |
P2420S |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
Glipr1l1 |
C |
T |
10: 111,912,075 (GRCm39) |
T203M |
probably benign |
Het |
Gm4353 |
T |
A |
7: 115,683,504 (GRCm39) |
D97V |
probably benign |
Het |
Gprc6a |
A |
T |
10: 51,491,907 (GRCm39) |
I543K |
probably damaging |
Het |
Ifi205 |
T |
C |
1: 173,854,830 (GRCm39) |
T110A |
possibly damaging |
Het |
Med27 |
T |
A |
2: 29,399,453 (GRCm39) |
S95T |
probably damaging |
Het |
Mocs1 |
T |
C |
17: 49,757,341 (GRCm39) |
S308P |
probably damaging |
Het |
Mrpl11 |
C |
T |
19: 5,013,397 (GRCm39) |
S88F |
possibly damaging |
Het |
Nav3 |
A |
T |
10: 109,702,845 (GRCm39) |
Y229* |
probably null |
Het |
Or2f1b |
A |
T |
6: 42,739,899 (GRCm39) |
L304F |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,585,772 (GRCm39) |
M37V |
probably benign |
Het |
Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
Or52r1 |
C |
A |
7: 102,537,158 (GRCm39) |
L67F |
probably benign |
Het |
Or5g27 |
T |
A |
2: 85,409,886 (GRCm39) |
M101K |
possibly damaging |
Het |
Pear1 |
A |
G |
3: 87,663,238 (GRCm39) |
I460T |
probably benign |
Het |
Phc3 |
T |
A |
3: 30,968,678 (GRCm39) |
K816N |
probably damaging |
Het |
Phf19 |
T |
A |
2: 34,787,129 (GRCm39) |
D445V |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,563,742 (GRCm39) |
F486L |
probably damaging |
Het |
Plagl1 |
G |
T |
10: 13,003,639 (GRCm39) |
|
probably benign |
Het |
Prkca |
A |
G |
11: 107,948,671 (GRCm39) |
I106T |
probably benign |
Het |
Ptpn3 |
C |
T |
4: 57,248,681 (GRCm39) |
G218R |
probably damaging |
Het |
Ptx3 |
A |
G |
3: 66,132,130 (GRCm39) |
D217G |
possibly damaging |
Het |
Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
Rfx2 |
A |
G |
17: 57,084,473 (GRCm39) |
F642S |
possibly damaging |
Het |
Rhpn2 |
T |
A |
7: 35,075,636 (GRCm39) |
M271K |
possibly damaging |
Het |
Serpinb6b |
A |
G |
13: 33,161,977 (GRCm39) |
T259A |
probably damaging |
Het |
Speer3 |
G |
A |
5: 13,844,705 (GRCm39) |
V123M |
possibly damaging |
Het |
Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
Thbs4 |
A |
G |
13: 92,888,303 (GRCm39) |
F950L |
probably benign |
Het |
Tiparp |
T |
C |
3: 65,460,664 (GRCm39) |
V551A |
probably damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,268,482 (GRCm39) |
D228E |
probably benign |
Het |
Vmn2r85 |
T |
C |
10: 130,261,531 (GRCm39) |
I269V |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,972,410 (GRCm39) |
M497K |
probably damaging |
Het |
Wnt5b |
A |
G |
6: 119,410,603 (GRCm39) |
V241A |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,228,342 (GRCm39) |
N353S |
probably damaging |
Het |
Zfp526 |
C |
T |
7: 24,925,757 (GRCm39) |
T672M |
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 |
R1443:Aoc1l1
|
UTSW |
6 |
48,952,849 (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 |
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'- GCCTCTTTGAGATACCCACAGG -3'
(R):5'- AACTTCAGGGCTTCTCAGC -3'
Sequencing Primer
(F):5'- GGCCTACCTTTAACACCAACTCTG -3'
(R):5'- CTCAGCCCTATCTTTGTGAAGTAATG -3'
|
Posted On |
2017-07-14 |