Incidental Mutation 'R4455:Aoc1l3'
| ID |
329136 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l3
|
| Ensembl Gene |
ENSMUSG00000039215 |
| Gene Name |
amine oxidase copper containing 1-like 3 |
| Synonyms |
SVS I, Svs1 |
| MMRRC Submission |
041715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4455 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48963795-48968656 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48964394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 134
(N134I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037696]
|
| AlphaFold |
Q6WIZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037696
AA Change: N134I
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: N134I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203494
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,395 (GRCm39) |
H166R |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,851,479 (GRCm39) |
E248G |
probably benign |
Het |
| Ankk1 |
A |
G |
9: 49,329,366 (GRCm39) |
V336A |
probably benign |
Het |
| Aoc1 |
T |
A |
6: 48,882,401 (GRCm39) |
D92E |
probably damaging |
Het |
| Arfgef2 |
T |
C |
2: 166,736,635 (GRCm39) |
I1769T |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,483,423 (GRCm39) |
S1434T |
probably benign |
Het |
| Baz1a |
C |
A |
12: 54,958,153 (GRCm39) |
V1033L |
probably benign |
Het |
| Bbs12 |
T |
C |
3: 37,374,461 (GRCm39) |
V418A |
probably damaging |
Het |
| Cacnb4 |
A |
G |
2: 52,355,665 (GRCm39) |
V214A |
probably damaging |
Het |
| Calhm6 |
A |
T |
10: 34,002,531 (GRCm39) |
I184N |
probably damaging |
Het |
| Camk2d |
T |
C |
3: 126,574,052 (GRCm39) |
V153A |
probably damaging |
Het |
| Ccdc18 |
C |
T |
5: 108,309,395 (GRCm39) |
S330L |
possibly damaging |
Het |
| Cdh11 |
T |
C |
8: 103,374,455 (GRCm39) |
D500G |
probably benign |
Het |
| Cdkn2d |
C |
G |
9: 21,202,185 (GRCm39) |
V21L |
probably benign |
Het |
| Clca4a |
G |
A |
3: 144,663,020 (GRCm39) |
P610S |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,172,031 (GRCm39) |
L807P |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,563,103 (GRCm39) |
L869P |
probably damaging |
Het |
| Egr2 |
GAA |
GA |
10: 67,375,733 (GRCm39) |
|
probably null |
Het |
| Eya1 |
C |
T |
1: 14,253,420 (GRCm39) |
V519M |
probably damaging |
Het |
| Fam227b |
T |
A |
2: 125,988,188 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,821,120 (GRCm39) |
A5618S |
possibly damaging |
Het |
| Grb10 |
T |
G |
11: 11,917,665 (GRCm39) |
Q72P |
possibly damaging |
Het |
| H3f3a |
G |
T |
1: 180,630,668 (GRCm39) |
R129S |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,034,374 (GRCm39) |
|
probably null |
Het |
| Kansl1 |
T |
C |
11: 104,315,184 (GRCm39) |
T285A |
possibly damaging |
Het |
| Krtap16-1 |
A |
T |
11: 99,876,559 (GRCm39) |
C282S |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,762,438 (GRCm39) |
V89A |
probably damaging |
Het |
| Mllt1 |
A |
G |
17: 57,226,965 (GRCm39) |
Y71H |
probably damaging |
Het |
| Ms4a14 |
T |
A |
19: 11,280,990 (GRCm39) |
T523S |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,412,555 (GRCm39) |
S1834P |
unknown |
Het |
| Necap1 |
C |
T |
6: 122,864,328 (GRCm39) |
S270F |
possibly damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,014 (GRCm39) |
M752V |
probably benign |
Het |
| Prune1 |
G |
A |
3: 95,189,207 (GRCm39) |
|
probably null |
Het |
| Ptpro |
A |
G |
6: 137,370,657 (GRCm39) |
E586G |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,290 (GRCm39) |
I499K |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Scara5 |
T |
A |
14: 66,000,196 (GRCm39) |
D455E |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,834,148 (GRCm39) |
|
probably benign |
Het |
| Sntb2 |
G |
A |
8: 107,718,239 (GRCm39) |
|
probably null |
Het |
| Sspo |
C |
T |
6: 48,442,450 (GRCm39) |
R1982C |
probably damaging |
Het |
| Tsen34 |
G |
A |
7: 3,698,097 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
AC |
A |
5: 111,371,924 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,777,257 (GRCm39) |
M1382V |
probably benign |
Het |
| Utp18 |
G |
A |
11: 93,776,273 (GRCm39) |
R71C |
probably benign |
Het |
| Xrn1 |
T |
A |
9: 95,855,698 (GRCm39) |
|
probably benign |
Het |
| Yeats2 |
A |
G |
16: 19,980,743 (GRCm39) |
K187R |
possibly damaging |
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 |
|
PIT4495001:Aoc1l3
|
UTSW |
6 |
48,964,710 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
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'- GACTTTGGCCAAGAACTCCG -3'
(R):5'- TCCAAATGTCATAGCACGAGGG -3'
Sequencing Primer
(F):5'- GAACTCCGTGTTCCTCATTGAGATG -3'
(R):5'- TGTCATAGCACGAGGGCCAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation