Incidental Mutation 'R4575:Aoc1l1'
| ID |
342400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l1
|
| Ensembl Gene |
ENSMUSG00000068536 |
| Gene Name |
amine oxidase copper containing 1-like 1 |
| Synonyms |
Doxl2 |
| MMRRC Submission |
041798-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4575 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 48954502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 547
(Q547*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139012
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
| AlphaFold |
Q6IMK7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000090063
AA Change: Q547*
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: Q547*
| 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 null
Transcript: ENSMUST00000184917
AA Change: Q547*
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: Q547*
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
C |
T |
7: 130,964,325 (GRCm39) |
A26T |
probably benign |
Het |
| 4930408O17Rik |
C |
A |
12: 104,837,527 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrf3 |
T |
A |
5: 30,407,255 (GRCm39) |
M224L |
probably benign |
Het |
| Ago3 |
T |
C |
4: 126,240,475 (GRCm39) |
H129R |
probably benign |
Het |
| Asb10 |
C |
T |
5: 24,745,052 (GRCm39) |
R99H |
probably damaging |
Het |
| Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,106,477 (GRCm39) |
V1001A |
probably benign |
Het |
| Ccdc96 |
T |
C |
5: 36,643,419 (GRCm39) |
V475A |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
| Clec4b2 |
T |
A |
6: 123,150,639 (GRCm39) |
L16Q |
probably damaging |
Het |
| Cyp2c68 |
T |
A |
19: 39,722,805 (GRCm39) |
I248L |
probably benign |
Het |
| Cyp2d22 |
G |
T |
15: 82,256,133 (GRCm39) |
A167E |
possibly damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,475,312 (GRCm39) |
K382R |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,626,823 (GRCm39) |
I362T |
possibly damaging |
Het |
| Edil3 |
T |
C |
13: 89,467,850 (GRCm39) |
Y452H |
probably damaging |
Het |
| Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,210 (GRCm39) |
S1756P |
unknown |
Het |
| Ep300 |
T |
A |
15: 81,495,611 (GRCm39) |
|
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,254,896 (GRCm39) |
Q507R |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,342,704 (GRCm39) |
T1666A |
probably benign |
Het |
| Frmd4a |
C |
A |
2: 4,608,490 (GRCm39) |
A786E |
possibly damaging |
Het |
| Gabrr1 |
C |
T |
4: 33,158,175 (GRCm39) |
T266I |
possibly damaging |
Het |
| Gm11563 |
G |
A |
11: 99,549,275 (GRCm39) |
P160S |
unknown |
Het |
| Gm12790 |
T |
C |
4: 101,825,324 (GRCm39) |
D30G |
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,715,736 (GRCm39) |
V34A |
probably damaging |
Het |
| Hgf |
T |
C |
5: 16,777,599 (GRCm39) |
Y199H |
probably benign |
Het |
| Ide |
G |
A |
19: 37,249,604 (GRCm39) |
P916L |
unknown |
Het |
| Igsf10 |
G |
T |
3: 59,237,521 (GRCm39) |
H887N |
probably benign |
Het |
| Iigp1 |
A |
T |
18: 60,523,218 (GRCm39) |
H112L |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,082,095 (GRCm39) |
E1009G |
probably damaging |
Het |
| Khdc1a |
A |
C |
1: 21,420,653 (GRCm39) |
D91A |
probably damaging |
Het |
| Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
| Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,731,271 (GRCm39) |
N593S |
probably benign |
Het |
| Krt1c |
T |
G |
15: 101,722,921 (GRCm39) |
D359A |
probably damaging |
Het |
| Krt35 |
A |
T |
11: 99,986,725 (GRCm39) |
N96K |
probably benign |
Het |
| Lnx1 |
T |
C |
5: 74,846,204 (GRCm39) |
D82G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,215,048 (GRCm39) |
S518R |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,120,299 (GRCm39) |
I473V |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,013,598 (GRCm39) |
D1108G |
probably damaging |
Het |
| Or52m2 |
A |
T |
7: 102,263,976 (GRCm39) |
C73* |
probably null |
Het |
| Or7g12 |
C |
A |
9: 18,900,001 (GRCm39) |
S239* |
probably null |
Het |
| Otop1 |
T |
C |
5: 38,457,065 (GRCm39) |
Y275H |
probably damaging |
Het |
| Ppp1r14c |
G |
T |
10: 3,316,912 (GRCm39) |
K82N |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,950,988 (GRCm39) |
E1935G |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 76,162,023 (GRCm39) |
V78I |
possibly damaging |
Het |
| Rfc4 |
T |
A |
16: 22,933,179 (GRCm39) |
|
probably benign |
Het |
| Rpn2 |
C |
A |
2: 157,137,244 (GRCm39) |
A209E |
probably damaging |
Het |
| Sf1 |
T |
C |
19: 6,425,943 (GRCm39) |
|
probably benign |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,679 (GRCm39) |
D148G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,524,390 (GRCm39) |
S864C |
unknown |
Het |
| Slc2a10 |
C |
G |
2: 165,358,241 (GRCm39) |
N455K |
probably damaging |
Het |
| Snrnp200 |
T |
A |
2: 127,076,986 (GRCm39) |
I1673N |
probably benign |
Het |
| Sri |
G |
T |
5: 8,113,693 (GRCm39) |
G152W |
probably damaging |
Het |
| Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
| Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
| Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
| Vmn2r125 |
T |
A |
4: 156,702,272 (GRCm39) |
D19E |
probably null |
Het |
| Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly 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 |
|
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'- CCAGCCCATGTTGTTGAAACC -3'
(R):5'- CAAGTCCTCTTGGGTTTCAGG -3'
Sequencing Primer
(F):5'- AACACTGCTTCTGGCTGG -3'
(R):5'- GTTTCAGGGGTCAGCCTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation