Incidental Mutation 'IGL00417:Acoxl'
ID |
7039 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acoxl
|
Ensembl Gene |
ENSMUSG00000027380 |
Gene Name |
acyl-Coenzyme A oxidase-like |
Synonyms |
1200014P05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00417
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
127680796-127965793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 127820724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 92
(C92Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028859]
[ENSMUST00000110344]
|
AlphaFold |
Q9DBS4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028859
AA Change: C372Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028859 Gene: ENSMUSG00000027380 AA Change: C372Y
Domain | Start | End | E-Value | Type |
Pfam:Acyl-CoA_dh_M
|
115 |
223 |
7.2e-19 |
PFAM |
Pfam:Acyl-CoA_dh_1
|
254 |
416 |
1.8e-14 |
PFAM |
Pfam:ACOX
|
458 |
599 |
6.8e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110344
AA Change: C92Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105973 Gene: ENSMUSG00000027380 AA Change: C92Y
Domain | Start | End | E-Value | Type |
Pfam:Acyl-CoA_dh_1
|
1 |
136 |
1.2e-9 |
PFAM |
Pfam:ACOX
|
175 |
319 |
1.5e-18 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,022,982 (GRCm39) |
I39M |
probably benign |
Het |
Actl6b |
G |
T |
5: 137,552,899 (GRCm39) |
R76L |
probably damaging |
Het |
Afg2a |
A |
G |
3: 37,505,951 (GRCm39) |
I677V |
possibly damaging |
Het |
Ank |
T |
C |
15: 27,544,437 (GRCm39) |
M66T |
possibly damaging |
Het |
C6 |
C |
T |
15: 4,789,449 (GRCm39) |
A298V |
possibly damaging |
Het |
Clip4 |
A |
T |
17: 72,156,937 (GRCm39) |
N591Y |
probably damaging |
Het |
Cntnap5b |
T |
C |
1: 99,978,479 (GRCm39) |
I165T |
probably damaging |
Het |
Dennd1b |
G |
A |
1: 138,990,678 (GRCm39) |
R214H |
probably damaging |
Het |
Eri2 |
G |
A |
7: 119,386,964 (GRCm39) |
T185I |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,249,456 (GRCm39) |
V476A |
probably damaging |
Het |
Fer1l4 |
G |
A |
2: 155,861,840 (GRCm39) |
R1826* |
probably null |
Het |
Fyb1 |
A |
T |
15: 6,610,258 (GRCm39) |
K277I |
probably damaging |
Het |
Gli3 |
C |
A |
13: 15,818,884 (GRCm39) |
H229N |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,553,029 (GRCm39) |
I2554V |
probably benign |
Het |
Maml2 |
A |
T |
9: 13,532,900 (GRCm39) |
|
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,053,692 (GRCm39) |
F930L |
possibly damaging |
Het |
Mmadhc |
T |
C |
2: 50,179,043 (GRCm39) |
D125G |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,396,157 (GRCm39) |
S139P |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,897,614 (GRCm39) |
L6647P |
unknown |
Het |
Ppara |
C |
A |
15: 85,685,268 (GRCm39) |
H406N |
probably benign |
Het |
Psg27 |
T |
A |
7: 18,295,842 (GRCm39) |
H201L |
probably benign |
Het |
Qser1 |
A |
T |
2: 104,617,248 (GRCm39) |
I1188N |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,783,551 (GRCm39) |
|
probably null |
Het |
Septin2 |
C |
T |
1: 93,426,864 (GRCm39) |
H158Y |
probably damaging |
Het |
Snx9 |
C |
A |
17: 5,942,172 (GRCm39) |
Q100K |
probably benign |
Het |
Thnsl2 |
G |
A |
6: 71,108,884 (GRCm39) |
T309I |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,523,571 (GRCm39) |
R125G |
probably damaging |
Het |
Tmem62 |
T |
G |
2: 120,837,445 (GRCm39) |
|
probably null |
Het |
Tnpo3 |
A |
T |
6: 29,578,460 (GRCm39) |
|
probably null |
Het |
Trpc6 |
A |
T |
9: 8,680,439 (GRCm39) |
D889V |
probably damaging |
Het |
Tubgcp6 |
C |
A |
15: 88,988,211 (GRCm39) |
V913L |
probably benign |
Het |
Uox |
A |
T |
3: 146,333,565 (GRCm39) |
M255L |
probably benign |
Het |
|
Other mutations in Acoxl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01397:Acoxl
|
APN |
2 |
127,876,811 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02502:Acoxl
|
APN |
2 |
127,917,804 (GRCm39) |
missense |
probably damaging |
1.00 |
gulch
|
UTSW |
2 |
127,964,944 (GRCm39) |
missense |
probably benign |
0.02 |
Gully
|
UTSW |
2 |
127,886,311 (GRCm39) |
missense |
possibly damaging |
0.62 |
P4748:Acoxl
|
UTSW |
2 |
127,928,264 (GRCm39) |
splice site |
probably benign |
|
R0450:Acoxl
|
UTSW |
2 |
127,722,423 (GRCm39) |
splice site |
probably null |
|
R0469:Acoxl
|
UTSW |
2 |
127,722,423 (GRCm39) |
splice site |
probably null |
|
R0510:Acoxl
|
UTSW |
2 |
127,722,423 (GRCm39) |
splice site |
probably null |
|
R1257:Acoxl
|
UTSW |
2 |
127,886,286 (GRCm39) |
missense |
probably benign |
0.01 |
R1703:Acoxl
|
UTSW |
2 |
127,820,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R1726:Acoxl
|
UTSW |
2 |
127,722,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R1867:Acoxl
|
UTSW |
2 |
127,719,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R2103:Acoxl
|
UTSW |
2 |
127,814,526 (GRCm39) |
missense |
probably damaging |
0.97 |
R2168:Acoxl
|
UTSW |
2 |
127,720,701 (GRCm39) |
missense |
probably damaging |
1.00 |
R2761:Acoxl
|
UTSW |
2 |
127,719,733 (GRCm39) |
missense |
probably benign |
0.01 |
R3895:Acoxl
|
UTSW |
2 |
127,814,445 (GRCm39) |
splice site |
probably benign |
|
R4370:Acoxl
|
UTSW |
2 |
127,720,708 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4571:Acoxl
|
UTSW |
2 |
127,719,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Acoxl
|
UTSW |
2 |
127,820,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R4851:Acoxl
|
UTSW |
2 |
127,886,311 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4962:Acoxl
|
UTSW |
2 |
127,917,810 (GRCm39) |
missense |
probably damaging |
0.98 |
R5248:Acoxl
|
UTSW |
2 |
127,917,855 (GRCm39) |
critical splice donor site |
probably null |
|
R5392:Acoxl
|
UTSW |
2 |
127,852,088 (GRCm39) |
critical splice donor site |
probably null |
|
R5411:Acoxl
|
UTSW |
2 |
127,696,821 (GRCm39) |
missense |
probably benign |
0.00 |
R5418:Acoxl
|
UTSW |
2 |
127,719,722 (GRCm39) |
missense |
probably benign |
0.34 |
R5507:Acoxl
|
UTSW |
2 |
127,726,394 (GRCm39) |
missense |
probably damaging |
0.99 |
R5681:Acoxl
|
UTSW |
2 |
127,814,559 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5738:Acoxl
|
UTSW |
2 |
127,719,686 (GRCm39) |
missense |
probably benign |
0.21 |
R6325:Acoxl
|
UTSW |
2 |
127,964,944 (GRCm39) |
missense |
probably benign |
0.02 |
R6800:Acoxl
|
UTSW |
2 |
127,852,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R7027:Acoxl
|
UTSW |
2 |
127,852,003 (GRCm39) |
missense |
probably benign |
|
R7098:Acoxl
|
UTSW |
2 |
127,696,835 (GRCm39) |
nonsense |
probably null |
|
R7165:Acoxl
|
UTSW |
2 |
127,965,028 (GRCm39) |
missense |
probably benign |
|
R7395:Acoxl
|
UTSW |
2 |
127,726,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R7697:Acoxl
|
UTSW |
2 |
127,820,702 (GRCm39) |
missense |
probably benign |
0.01 |
R9135:Acoxl
|
UTSW |
2 |
127,696,691 (GRCm39) |
start gained |
probably benign |
|
R9165:Acoxl
|
UTSW |
2 |
127,726,432 (GRCm39) |
missense |
probably benign |
|
R9291:Acoxl
|
UTSW |
2 |
127,814,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R9497:Acoxl
|
UTSW |
2 |
127,719,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R9527:Acoxl
|
UTSW |
2 |
127,886,284 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Acoxl
|
UTSW |
2 |
127,714,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-04-20 |