Incidental Mutation 'R6564:Aoc1l1'
| ID |
522325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l1
|
| Ensembl Gene |
ENSMUSG00000068536 |
| Gene Name |
amine oxidase copper containing 1-like 1 |
| Synonyms |
Doxl2 |
| MMRRC Submission |
044688-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6564 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48954509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 549
(V549A)
|
| 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: V549A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: V549A
| 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: V549A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: V549A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.9%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
A |
13: 119,622,613 (GRCm39) |
|
probably null |
Het |
| 4931429L15Rik |
C |
A |
9: 46,218,202 (GRCm39) |
D179Y |
probably damaging |
Het |
| Abca1 |
A |
T |
4: 53,034,031 (GRCm39) |
L2233Q |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,349,009 (GRCm39) |
E834V |
possibly damaging |
Het |
| Abcc9 |
T |
C |
6: 142,548,834 (GRCm39) |
Y1318C |
probably damaging |
Het |
| Adam15 |
C |
A |
3: 89,254,519 (GRCm39) |
R121L |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,116,351 (GRCm39) |
M1588K |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,078,491 (GRCm39) |
S1849P |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,359,347 (GRCm39) |
S213P |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,102,098 (GRCm39) |
V65A |
probably benign |
Het |
| Chn1 |
T |
A |
2: 73,448,385 (GRCm39) |
I203F |
probably damaging |
Het |
| Crnkl1 |
T |
A |
2: 145,770,165 (GRCm39) |
E226V |
possibly damaging |
Het |
| Cspg4 |
A |
G |
9: 56,797,442 (GRCm39) |
E1302G |
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,367,891 (GRCm39) |
A2759S |
probably benign |
Het |
| Dtx1 |
T |
A |
5: 120,833,082 (GRCm39) |
T119S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Ezr |
C |
T |
17: 7,010,246 (GRCm39) |
V268M |
probably damaging |
Het |
| Fbxl15 |
T |
C |
19: 46,317,777 (GRCm39) |
V153A |
probably damaging |
Het |
| Fkbpl |
C |
A |
17: 34,865,240 (GRCm39) |
A336E |
probably benign |
Het |
| Gsg1l2 |
A |
G |
11: 67,677,330 (GRCm39) |
T200A |
possibly damaging |
Het |
| H2ax |
T |
C |
9: 44,246,209 (GRCm39) |
Y51H |
probably damaging |
Het |
| Ifi213 |
A |
C |
1: 173,422,862 (GRCm39) |
M1R |
probably null |
Het |
| Kcnt1 |
A |
C |
2: 25,801,063 (GRCm39) |
D1045A |
probably benign |
Het |
| Kdm4a |
C |
A |
4: 118,034,636 (GRCm39) |
A32S |
probably benign |
Het |
| Klkb1 |
A |
T |
8: 45,726,671 (GRCm39) |
V444E |
probably damaging |
Het |
| Mccc1 |
T |
C |
3: 36,030,825 (GRCm39) |
T414A |
probably damaging |
Het |
| Miga1 |
A |
C |
3: 151,990,959 (GRCm39) |
N367K |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,695,185 (GRCm39) |
D49G |
probably benign |
Het |
| Nlrp1a |
A |
G |
11: 71,014,398 (GRCm39) |
L284P |
probably damaging |
Het |
| Or7g33 |
G |
A |
9: 19,448,506 (GRCm39) |
T240I |
possibly damaging |
Het |
| Or9s15 |
T |
C |
1: 92,524,285 (GRCm39) |
S15P |
probably benign |
Het |
| Pbld1 |
T |
A |
10: 62,907,806 (GRCm39) |
I224N |
possibly damaging |
Het |
| Pih1d1 |
A |
T |
7: 44,809,243 (GRCm39) |
R276W |
probably damaging |
Het |
| Plekhg1 |
G |
T |
10: 3,914,153 (GRCm39) |
V1292L |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,171,285 (GRCm39) |
|
probably null |
Het |
| Rbm6 |
T |
C |
9: 107,710,697 (GRCm39) |
Y498C |
probably damaging |
Het |
| Reps1 |
T |
A |
10: 17,998,140 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
T |
A |
6: 88,456,208 (GRCm39) |
I154N |
possibly damaging |
Het |
| Slc4a5 |
T |
G |
6: 83,257,042 (GRCm39) |
F616V |
possibly damaging |
Het |
| Spag5 |
A |
T |
11: 78,206,401 (GRCm39) |
T798S |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,355 (GRCm39) |
I102K |
possibly damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,782,052 (GRCm39) |
F430L |
probably damaging |
Het |
| Svs3a |
T |
A |
2: 164,131,270 (GRCm39) |
I21K |
probably damaging |
Het |
| Tet3 |
T |
A |
6: 83,363,052 (GRCm39) |
I842L |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,745,002 (GRCm39) |
K360N |
probably benign |
Het |
| Tmem45b |
C |
G |
9: 31,339,301 (GRCm39) |
W138S |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,291,344 (GRCm39) |
E40G |
probably damaging |
Het |
| Traj40 |
T |
C |
14: 54,415,399 (GRCm39) |
|
probably benign |
Het |
| Trpm5 |
A |
G |
7: 142,626,507 (GRCm39) |
S125P |
probably damaging |
Het |
| Ttc3 |
G |
T |
16: 94,243,470 (GRCm39) |
C1158F |
probably damaging |
Het |
| Tubg1 |
T |
C |
11: 101,011,715 (GRCm39) |
I74T |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,169,197 (GRCm39) |
|
probably null |
Het |
| Wbp4 |
G |
T |
14: 79,704,868 (GRCm39) |
H201N |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,485,499 (GRCm39) |
S821P |
probably benign |
Het |
| Wsb2 |
A |
T |
5: 117,508,625 (GRCm39) |
|
probably null |
Het |
| Zic5 |
A |
G |
14: 122,696,833 (GRCm39) |
L594P |
unknown |
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 |
|
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 |
|
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'- GCCCATGTTGTTGAAACCATC -3'
(R):5'- AAGTCCTCTTGGGTTTCAGG -3'
Sequencing Primer
(F):5'- AACACTGCTTCTGGCTGG -3'
(R):5'- GTTTCAGGGGTCAGCCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation