Incidental Mutation 'PIT4495001:Aoc1l3'
| ID |
555956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l3
|
| Ensembl Gene |
ENSMUSG00000039215 |
| Gene Name |
amine oxidase copper containing 1-like 3 |
| Synonyms |
SVS I, Svs1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
PIT4495001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48963795-48968656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48964710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 239
(E239D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037696]
|
| AlphaFold |
Q6WIZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037696
AA Change: E239D
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: E239D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cu_amine_oxidN2
|
44 |
130 |
1.5e-24 |
PFAM |
|
Pfam:Cu_amine_oxidN3
|
146 |
246 |
2.7e-16 |
PFAM |
|
internal_repeat_1
|
286 |
342 |
7.28e-22 |
PROSPERO |
|
Pfam:Cu_amine_oxid
|
408 |
811 |
2e-92 |
PFAM |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.6%
- 10x: 84.0%
- 20x: 69.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,460,755 (GRCm39) |
V384D |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,056,675 (GRCm39) |
E248G |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,997,391 (GRCm39) |
T1162A |
probably benign |
Het |
| Ank3 |
C |
A |
10: 69,828,902 (GRCm39) |
H2524N |
|
Het |
| Cct7 |
T |
A |
6: 85,436,943 (GRCm39) |
N60K |
probably damaging |
Het |
| Cfap43 |
A |
C |
19: 47,885,741 (GRCm39) |
C291W |
probably damaging |
Het |
| Cobl |
G |
A |
11: 12,204,596 (GRCm39) |
T702I |
probably benign |
Het |
| Col5a1 |
C |
A |
2: 27,914,788 (GRCm39) |
Q1624K |
unknown |
Het |
| Cubn |
T |
A |
2: 13,496,561 (GRCm39) |
T22S |
probably benign |
Het |
| Def8 |
A |
C |
8: 124,186,292 (GRCm39) |
M344L |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,523,466 (GRCm39) |
T450A |
probably benign |
Het |
| Gm11214 |
G |
A |
4: 63,580,922 (GRCm39) |
L76F |
probably benign |
Het |
| Gm5797 |
T |
C |
14: 7,329,530 (GRCm38) |
T153A |
probably benign |
Het |
| Gsk3a |
A |
C |
7: 24,935,064 (GRCm39) |
S129A |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,652,033 (GRCm39) |
Q830R |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,475,665 (GRCm39) |
V750I |
probably benign |
Het |
| Mlh1 |
T |
A |
9: 111,076,328 (GRCm39) |
Y343F |
probably benign |
Het |
| Myb |
C |
T |
10: 21,028,521 (GRCm39) |
R114H |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,102,748 (GRCm39) |
D4508E |
probably benign |
Het |
| Nell2 |
T |
C |
15: 95,281,608 (GRCm39) |
D366G |
probably benign |
Het |
| Or1o3 |
A |
C |
17: 37,573,721 (GRCm39) |
V278G |
possibly damaging |
Het |
| Or4d6 |
A |
G |
19: 12,086,076 (GRCm39) |
I52T |
possibly damaging |
Het |
| Or5ac25 |
A |
C |
16: 59,181,871 (GRCm39) |
F237V |
probably damaging |
Het |
| Or5h26 |
G |
T |
16: 58,988,337 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or7a38 |
T |
C |
10: 78,752,821 (GRCm39) |
V49A |
probably benign |
Het |
| Pcdhgc5 |
C |
T |
18: 37,954,030 (GRCm39) |
H435Y |
possibly damaging |
Het |
| Pira12 |
A |
T |
7: 3,900,457 (GRCm39) |
C98S |
probably damaging |
Het |
| Pnpla7 |
T |
A |
2: 24,932,151 (GRCm39) |
D935E |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,451,780 (GRCm39) |
E874G |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,416,565 (GRCm39) |
I158R |
probably benign |
Het |
| Pzp |
C |
A |
6: 128,479,192 (GRCm39) |
V654L |
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,808,405 (GRCm39) |
T454A |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,593,343 (GRCm39) |
S419I |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,335,295 (GRCm39) |
D402G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,370 (GRCm39) |
H759R |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,812 (GRCm39) |
F90I |
probably damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Sf3a3 |
C |
T |
4: 124,622,113 (GRCm39) |
P391L |
probably damaging |
Het |
| Snx9 |
T |
A |
17: 5,970,401 (GRCm39) |
I379K |
possibly damaging |
Het |
| Syt5 |
A |
C |
7: 4,544,077 (GRCm39) |
|
probably null |
Het |
| Tex47 |
A |
G |
5: 7,355,011 (GRCm39) |
D64G |
probably benign |
Het |
| Zbbx |
C |
A |
3: 74,968,944 (GRCm39) |
W509L |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,993,555 (GRCm39) |
K551R |
probably benign |
Het |
|
| Other mutations in Aoc1l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Aoc1l3
|
APN |
6 |
48,964,673 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01876:Aoc1l3
|
APN |
6 |
48,966,970 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01934:Aoc1l3
|
APN |
6 |
48,965,695 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03002:Aoc1l3
|
APN |
6 |
48,964,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03059:Aoc1l3
|
APN |
6 |
48,964,349 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03213:Aoc1l3
|
APN |
6 |
48,965,279 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03249:Aoc1l3
|
APN |
6 |
48,965,303 (GRCm39) |
missense |
probably benign |
|
|
IGL03365:Aoc1l3
|
APN |
6 |
48,965,531 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4280001:Aoc1l3
|
UTSW |
6 |
48,964,054 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0010:Aoc1l3
|
UTSW |
6 |
48,965,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0528:Aoc1l3
|
UTSW |
6 |
48,964,965 (GRCm39) |
missense |
probably benign |
|
|
R0784:Aoc1l3
|
UTSW |
6 |
48,964,235 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0959:Aoc1l3
|
UTSW |
6 |
48,965,566 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1173:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Aoc1l3
|
UTSW |
6 |
48,967,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Aoc1l3
|
UTSW |
6 |
48,967,007 (GRCm39) |
nonsense |
probably null |
|
|
R3115:Aoc1l3
|
UTSW |
6 |
48,964,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3116:Aoc1l3
|
UTSW |
6 |
48,964,331 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3808:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3809:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3852:Aoc1l3
|
UTSW |
6 |
48,964,928 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4455:Aoc1l3
|
UTSW |
6 |
48,964,394 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4898:Aoc1l3
|
UTSW |
6 |
48,964,651 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4933:Aoc1l3
|
UTSW |
6 |
48,964,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5108:Aoc1l3
|
UTSW |
6 |
48,965,504 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5320:Aoc1l3
|
UTSW |
6 |
48,964,509 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6053:Aoc1l3
|
UTSW |
6 |
48,965,422 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6728:Aoc1l3
|
UTSW |
6 |
48,965,779 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6922:Aoc1l3
|
UTSW |
6 |
48,964,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7045:Aoc1l3
|
UTSW |
6 |
48,965,546 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7046:Aoc1l3
|
UTSW |
6 |
48,964,512 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7137:Aoc1l3
|
UTSW |
6 |
48,967,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Aoc1l3
|
UTSW |
6 |
48,964,952 (GRCm39) |
small deletion |
probably benign |
|
|
R7874:Aoc1l3
|
UTSW |
6 |
48,965,600 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7993:Aoc1l3
|
UTSW |
6 |
48,964,542 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8238:Aoc1l3
|
UTSW |
6 |
48,966,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8807:Aoc1l3
|
UTSW |
6 |
48,965,188 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9036:Aoc1l3
|
UTSW |
6 |
48,965,074 (GRCm39) |
small deletion |
probably benign |
|
|
R9070:Aoc1l3
|
UTSW |
6 |
48,965,329 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9350:Aoc1l3
|
UTSW |
6 |
48,965,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Aoc1l3
|
UTSW |
6 |
48,965,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Aoc1l3
|
UTSW |
6 |
48,964,952 (GRCm39) |
small deletion |
probably benign |
|
|
X0022:Aoc1l3
|
UTSW |
6 |
48,965,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATACCACTGGCTTCACACTGC -3'
(R):5'- ATAGAGCTGGATCACTCGAGGG -3'
Sequencing Primer
(F):5'- TGGCTTCACACTGCAGGACTG -3'
(R):5'- ATCACTCGAGGGCCACC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation