Incidental Mutation 'R2031:Aoc1l1'
| ID |
221225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aoc1l1
|
| Ensembl Gene |
ENSMUSG00000068536 |
| Gene Name |
amine oxidase copper containing 1-like 1 |
| Synonyms |
Doxl2 |
| MMRRC Submission |
040038-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2031 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48951897-48955680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48952789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 238
(V238A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087517
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090063]
[ENSMUST00000184917]
|
| AlphaFold |
Q6IMK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090063
AA Change: V238A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: V238A
| 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 damaging
Transcript: ENSMUST00000184917
AA Change: V238A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: V238A
| 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 |
|
| Meta Mutation Damage Score |
0.5259 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
G |
T |
5: 121,639,118 (GRCm39) |
N642K |
possibly damaging |
Het |
| Akap11 |
T |
A |
14: 78,747,477 (GRCm39) |
I1637L |
possibly damaging |
Het |
| Arhgap28 |
G |
T |
17: 68,203,111 (GRCm39) |
T114N |
probably damaging |
Het |
| Arid5b |
A |
G |
10: 68,114,518 (GRCm39) |
|
probably null |
Het |
| Atp10a |
T |
A |
7: 58,477,678 (GRCm39) |
C1292* |
probably null |
Het |
| Casp4 |
A |
G |
9: 5,321,401 (GRCm39) |
S51G |
probably benign |
Het |
| Cast |
T |
C |
13: 74,946,771 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,891,715 (GRCm39) |
F736L |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,415,370 (GRCm39) |
S1203P |
probably damaging |
Het |
| Cep290 |
G |
A |
10: 100,348,262 (GRCm39) |
|
probably null |
Het |
| Cep85 |
A |
G |
4: 133,859,761 (GRCm39) |
V634A |
probably benign |
Het |
| Cpeb3 |
C |
T |
19: 37,022,079 (GRCm39) |
R589H |
probably damaging |
Het |
| Crebrf |
T |
G |
17: 26,961,895 (GRCm39) |
S331A |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,578,480 (GRCm39) |
V36A |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,618,297 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
G |
A |
1: 132,380,929 (GRCm39) |
A475T |
probably damaging |
Het |
| Enpp6 |
C |
A |
8: 47,506,649 (GRCm39) |
P151Q |
probably damaging |
Het |
| Fan1 |
A |
G |
7: 64,004,172 (GRCm39) |
Y765H |
probably damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,476 (GRCm39) |
S354T |
probably benign |
Het |
| Ifi204 |
A |
C |
1: 173,580,343 (GRCm39) |
F389C |
probably damaging |
Het |
| Ikbip |
T |
C |
10: 90,932,474 (GRCm39) |
Y373H |
probably benign |
Het |
| Kbtbd11 |
C |
A |
8: 15,078,021 (GRCm39) |
P207T |
possibly damaging |
Het |
| Krt73 |
A |
C |
15: 101,707,199 (GRCm39) |
|
probably benign |
Het |
| Mfsd6 |
T |
A |
1: 52,748,013 (GRCm39) |
Q284L |
probably benign |
Het |
| Mmp1b |
T |
A |
9: 7,368,607 (GRCm39) |
D415V |
possibly damaging |
Het |
| Mrc1 |
A |
T |
2: 14,326,584 (GRCm39) |
T1161S |
probably damaging |
Het |
| Ms4a18 |
A |
G |
19: 10,991,014 (GRCm39) |
S27P |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,426,028 (GRCm39) |
R2366S |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,537,937 (GRCm39) |
L172P |
probably damaging |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Or1d2 |
A |
G |
11: 74,255,777 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,105 (GRCm39) |
F12S |
probably damaging |
Het |
| Or4c107 |
A |
G |
2: 88,789,643 (GRCm39) |
T278A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 102,747,371 (GRCm39) |
Y141C |
probably damaging |
Het |
| Or5an10 |
A |
T |
19: 12,275,740 (GRCm39) |
V252D |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,770 (GRCm39) |
L216S |
probably benign |
Het |
| Parvb |
A |
T |
15: 84,167,036 (GRCm39) |
Y117F |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,127,484 (GRCm39) |
|
probably benign |
Het |
| Plxnb2 |
A |
T |
15: 89,047,013 (GRCm39) |
C769* |
probably null |
Het |
| Plxnc1 |
G |
T |
10: 94,779,529 (GRCm39) |
D304E |
probably benign |
Het |
| Prkg2 |
T |
C |
5: 99,172,310 (GRCm39) |
D135G |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,153,448 (GRCm39) |
D635G |
probably benign |
Het |
| Rapgef6 |
T |
G |
11: 54,443,684 (GRCm39) |
V89G |
probably benign |
Het |
| Ror2 |
T |
A |
13: 53,271,366 (GRCm39) |
T330S |
probably benign |
Het |
| Ros1 |
A |
G |
10: 51,943,164 (GRCm39) |
V2050A |
possibly damaging |
Het |
| Serpinb6e |
T |
C |
13: 34,021,733 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Smarca4 |
T |
C |
9: 21,597,358 (GRCm39) |
V1371A |
possibly damaging |
Het |
| Syvn1 |
G |
A |
19: 6,100,560 (GRCm39) |
R317H |
probably damaging |
Het |
| Tdo2 |
T |
A |
3: 81,876,812 (GRCm39) |
D139V |
probably damaging |
Het |
| Tmem130 |
A |
G |
5: 144,689,236 (GRCm39) |
V135A |
possibly damaging |
Het |
| Tpr |
A |
T |
1: 150,317,870 (GRCm39) |
Q2126L |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,706,062 (GRCm39) |
M324V |
possibly damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,574 (GRCm39) |
M34T |
possibly damaging |
Het |
| Vmn2r95 |
T |
C |
17: 18,659,717 (GRCm39) |
W154R |
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 |
|
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 |
|
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'- TGCAATGGCCAGTGTCTGAC -3'
(R):5'- AGATCACAGTGTTACCCTCTAGG -3'
Sequencing Primer
(F):5'- AATGGCCAGTGTCTGACCTTCAC -3'
(R):5'- ACATGGGGCCCAGATTTTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation