Incidental Mutation 'R5320:Aoc1l1'
| ID |
406043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l1
|
| Ensembl Gene |
ENSMUSG00000068536 |
| Gene Name |
amine oxidase copper containing 1-like 1 |
| Synonyms |
Doxl2 |
| MMRRC Submission |
042903-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5320 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48952474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 133
(L133Q)
|
| 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: L133Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: L133Q
| 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 damaging
Transcript: ENSMUST00000184917
AA Change: L133Q
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: L133Q
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,526,541 (GRCm39) |
I581N |
probably damaging |
Het |
| Abcb10 |
A |
G |
8: 124,697,763 (GRCm39) |
F187S |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,808,203 (GRCm39) |
V842E |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,307,291 (GRCm39) |
D1367G |
probably benign |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,509 (GRCm39) |
F172L |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
| Bmpr1a |
C |
T |
14: 34,146,999 (GRCm39) |
V258M |
probably damaging |
Het |
| Bptf |
T |
A |
11: 106,972,193 (GRCm39) |
K892* |
probably null |
Het |
| Cap2 |
A |
G |
13: 46,801,840 (GRCm39) |
*422W |
probably null |
Het |
| Cars2 |
G |
T |
8: 11,567,854 (GRCm39) |
H414N |
probably benign |
Het |
| Ccnt1 |
A |
C |
15: 98,442,124 (GRCm39) |
S381R |
probably benign |
Het |
| Cdyl2 |
A |
T |
8: 117,321,794 (GRCm39) |
C244* |
probably null |
Het |
| Cers2 |
A |
G |
3: 95,228,305 (GRCm39) |
E115G |
probably null |
Het |
| Cpt1b |
G |
A |
15: 89,303,477 (GRCm39) |
P553S |
probably benign |
Het |
| Cuedc1 |
A |
G |
11: 88,068,136 (GRCm39) |
E128G |
probably damaging |
Het |
| Dll4 |
T |
A |
2: 119,156,968 (GRCm39) |
V80D |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,536,874 (GRCm39) |
L113P |
probably damaging |
Het |
| Fam98a |
A |
G |
17: 75,845,810 (GRCm39) |
I312T |
probably damaging |
Het |
| Gnrhr |
T |
G |
5: 86,345,473 (GRCm39) |
K71T |
possibly damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,445,032 (GRCm39) |
L674Q |
probably damaging |
Het |
| Hipk2 |
A |
T |
6: 38,795,212 (GRCm39) |
H352Q |
probably damaging |
Het |
| Hivep1 |
T |
C |
13: 42,313,115 (GRCm39) |
V1785A |
probably damaging |
Het |
| Hspa4 |
A |
T |
11: 53,153,810 (GRCm39) |
I687N |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,936,955 (GRCm39) |
D81V |
probably damaging |
Het |
| Lama3 |
A |
C |
18: 12,685,912 (GRCm39) |
D1142A |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,766,727 (GRCm39) |
I713T |
possibly damaging |
Het |
| Man2b2 |
T |
A |
5: 36,967,677 (GRCm39) |
Y897F |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,738 (GRCm39) |
I1895F |
unknown |
Het |
| Myh8 |
G |
A |
11: 67,177,089 (GRCm39) |
V414I |
probably damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,149 (GRCm39) |
|
probably null |
Het |
| Nav2 |
A |
T |
7: 49,141,121 (GRCm39) |
M889L |
probably benign |
Het |
| Oc90 |
C |
T |
15: 65,754,457 (GRCm39) |
G236D |
probably benign |
Het |
| Or13a27 |
A |
G |
7: 139,925,548 (GRCm39) |
V118A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,267,631 (GRCm39) |
I11T |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,615,787 (GRCm39) |
I173T |
probably damaging |
Het |
| Pcsk9 |
A |
T |
4: 106,320,988 (GRCm39) |
D40E |
probably benign |
Het |
| Pdzrn3 |
G |
C |
6: 101,128,064 (GRCm39) |
H867Q |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,094,696 (GRCm39) |
I174F |
possibly damaging |
Het |
| Pom121l2 |
G |
A |
13: 22,166,015 (GRCm39) |
W95* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,577,843 (GRCm39) |
T336S |
probably benign |
Het |
| Prdm11 |
A |
C |
2: 92,843,226 (GRCm39) |
S78A |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,435,224 (GRCm39) |
I405T |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,902,478 (GRCm39) |
R1208G |
probably damaging |
Het |
| Rasgrp2 |
T |
A |
19: 6,458,864 (GRCm39) |
|
probably null |
Het |
| Rb1 |
A |
T |
14: 73,450,566 (GRCm39) |
Y599* |
probably null |
Het |
| Rnf141 |
A |
T |
7: 110,433,010 (GRCm39) |
F62L |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,023,698 (GRCm39) |
F292I |
possibly damaging |
Het |
| Scn10a |
C |
T |
9: 119,477,175 (GRCm39) |
V736I |
probably damaging |
Het |
| Sim2 |
A |
T |
16: 93,905,598 (GRCm39) |
T141S |
probably benign |
Het |
| Slc6a15 |
G |
T |
10: 103,244,067 (GRCm39) |
V436L |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,668,772 (GRCm39) |
S924P |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,671,881 (GRCm39) |
E449G |
probably benign |
Het |
| Tlr3 |
A |
T |
8: 45,852,137 (GRCm39) |
N253K |
possibly damaging |
Het |
| Tmem198 |
G |
A |
1: 75,456,500 (GRCm39) |
A82T |
probably benign |
Het |
| Tom1l2 |
A |
T |
11: 60,133,648 (GRCm39) |
L54* |
probably null |
Het |
| Trav12-2 |
A |
G |
14: 53,854,356 (GRCm39) |
Y110C |
probably benign |
Het |
| Trdn |
T |
A |
10: 33,209,247 (GRCm39) |
|
probably null |
Het |
| Trim36 |
G |
T |
18: 46,300,565 (GRCm39) |
P690Q |
probably damaging |
Het |
| Trpc4 |
A |
T |
3: 54,206,599 (GRCm39) |
M600L |
probably damaging |
Het |
| Trpm2 |
T |
A |
10: 77,759,355 (GRCm39) |
Q1143L |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,283,739 (GRCm39) |
D144E |
probably benign |
Het |
| Vps18 |
A |
T |
2: 119,127,858 (GRCm39) |
R894* |
probably null |
Het |
| Vwa1 |
A |
G |
4: 155,855,369 (GRCm39) |
V248A |
probably benign |
Het |
| Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
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 |
|
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'- ATTGAGACTCTGCTGCCCAAC -3'
(R):5'- AATGCGCTGCAAGAGGAACC -3'
Sequencing Primer
(F):5'- CAAGAAGGTGGTCCTAGAGTTTC -3'
(R):5'- CGATGTCTAGACTCCACACTATG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation