Incidental Mutation 'R9654:Aoc1l1'
| ID |
727259 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l1
|
| Ensembl Gene |
ENSMUSG00000068536 |
| Gene Name |
amine oxidase copper containing 1-like 1 |
| Synonyms |
Doxl2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9654 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48952837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 254
(L254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
| AlphaFold |
Q6IMK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090063
AA Change: L254P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: L254P
| 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 |
probably damaging
Transcript: ENSMUST00000184917
AA Change: L254P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: L254P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
T |
C |
15: 81,948,916 (GRCm39) |
S938P |
possibly damaging |
Het |
| Abca17 |
G |
T |
17: 24,536,099 (GRCm39) |
H523N |
probably benign |
Het |
| Alx1 |
T |
A |
10: 102,858,093 (GRCm39) |
H202L |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,462,981 (GRCm39) |
H744L |
probably benign |
Het |
| Ankrd50 |
A |
T |
3: 38,511,018 (GRCm39) |
S450T |
probably benign |
Het |
| Arhgef25 |
C |
T |
10: 127,021,955 (GRCm39) |
S200N |
probably damaging |
Het |
| Arl4c |
G |
T |
1: 88,629,361 (GRCm39) |
S9* |
probably null |
Het |
| Bod1l |
A |
G |
5: 41,975,707 (GRCm39) |
M1869T |
probably benign |
Het |
| Btnl6 |
G |
A |
17: 34,733,140 (GRCm39) |
P241L |
probably damaging |
Het |
| Cacng8 |
C |
T |
7: 3,443,002 (GRCm39) |
R88W |
probably damaging |
Het |
| Ccdc154 |
C |
T |
17: 25,386,684 (GRCm39) |
T262I |
possibly damaging |
Het |
| Clmn |
C |
A |
12: 104,748,193 (GRCm39) |
E451D |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,593,904 (GRCm39) |
I3416L |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,927,156 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
A |
7: 119,641,396 (GRCm39) |
K1175* |
probably null |
Het |
| Dock8 |
C |
T |
19: 25,124,710 (GRCm39) |
R1009W |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,579,532 (GRCm39) |
T891K |
probably damaging |
Het |
| Fkbp15 |
A |
G |
4: 62,230,553 (GRCm39) |
V720A |
probably benign |
Het |
| Fryl |
G |
T |
5: 73,275,801 (GRCm39) |
P121Q |
probably benign |
Het |
| H2-Q6 |
C |
T |
17: 35,644,185 (GRCm39) |
R56C |
probably damaging |
Het |
| Hbs1l |
T |
C |
10: 21,183,604 (GRCm39) |
V115A |
possibly damaging |
Het |
| Heatr5a |
G |
A |
12: 52,005,778 (GRCm39) |
P66S |
probably damaging |
Het |
| Hsd17b4 |
A |
G |
18: 50,272,533 (GRCm39) |
D44G |
probably benign |
Het |
| Idh3a |
T |
C |
9: 54,497,182 (GRCm39) |
V41A |
probably benign |
Het |
| Itih1 |
T |
A |
14: 30,664,870 (GRCm39) |
K37M |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,101,266 (GRCm39) |
T1920A |
|
Het |
| Ltn1 |
G |
C |
16: 87,207,227 (GRCm39) |
D904E |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,986,166 (GRCm39) |
I893T |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,013,430 (GRCm39) |
H49R |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,088,171 (GRCm39) |
V1929A |
probably benign |
Het |
| Ncoa4 |
C |
A |
14: 31,896,465 (GRCm39) |
P230Q |
probably benign |
Het |
| Npy4r |
T |
A |
14: 33,869,081 (GRCm39) |
Q69L |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Nus1 |
T |
G |
10: 52,294,130 (GRCm39) |
L98R |
possibly damaging |
Het |
| Or10ag55-ps1 |
C |
T |
2: 87,115,071 (GRCm39) |
L146F |
probably benign |
Het |
| Or14c42-ps1 |
T |
A |
7: 86,210,950 (GRCm39) |
N3K |
unknown |
Het |
| Or2w4 |
T |
C |
13: 21,795,915 (GRCm39) |
T75A |
possibly damaging |
Het |
| Or4c11b |
T |
C |
2: 88,625,263 (GRCm39) |
L179S |
probably damaging |
Het |
| Or5k17 |
T |
A |
16: 58,746,752 (GRCm39) |
I61F |
probably benign |
Het |
| Pcdha11 |
A |
C |
18: 37,145,333 (GRCm39) |
T475P |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,010,827 (GRCm39) |
A384S |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,518,651 (GRCm39) |
D259V |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,166,028 (GRCm39) |
M52V |
probably benign |
Het |
| Rsph6a |
T |
A |
7: 18,799,332 (GRCm39) |
L321Q |
probably damaging |
Het |
| Sugp1 |
T |
A |
8: 70,522,656 (GRCm39) |
M452K |
probably damaging |
Het |
| Sult2a6 |
T |
G |
7: 13,956,445 (GRCm39) |
D272A |
probably benign |
Het |
| Tlr6 |
A |
T |
5: 65,112,697 (GRCm39) |
L70Q |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,222,534 (GRCm39) |
Y83F |
probably benign |
Het |
| Tmprss4 |
C |
T |
9: 45,090,700 (GRCm39) |
|
probably null |
Het |
| Trpv4 |
A |
G |
5: 114,764,887 (GRCm39) |
L709P |
probably benign |
Het |
| Utp15 |
G |
A |
13: 98,385,668 (GRCm39) |
T519M |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,693,217 (GRCm39) |
N461S |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,327 (GRCm39) |
V338A |
probably benign |
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 |
|
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 |
|
X0013:Aoc1l1
|
UTSW |
6 |
48,954,547 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGACCTTCACCCATGTGG -3'
(R):5'- GTCTTTGTAGATCACAGTGTTACCC -3'
Sequencing Primer
(F):5'- TCACCCATGTGGCCCCC -3'
(R):5'- GTAGATCACAGTGTTACCCTCTAGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation