Incidental Mutation 'R6325:Acoxl'
ID |
510227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acoxl
|
Ensembl Gene |
ENSMUSG00000027380 |
Gene Name |
acyl-Coenzyme A oxidase-like |
Synonyms |
1200014P05Rik |
MMRRC Submission |
044479-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6325 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
127680796-127965793 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127964944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 596
(I596T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028859
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019281]
[ENSMUST00000028859]
[ENSMUST00000089634]
[ENSMUST00000103210]
[ENSMUST00000103211]
[ENSMUST00000110341]
[ENSMUST00000110344]
|
AlphaFold |
Q9DBS4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019281
|
SMART Domains |
Protein: ENSMUSP00000019281 Gene: ENSMUSG00000027381
Domain | Start | End | E-Value | Type |
Pfam:Bim_N
|
4 |
40 |
1.2e-24 |
PFAM |
Pfam:Bclx_interact
|
41 |
79 |
1.1e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028859
AA Change: I596T
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000028859 Gene: ENSMUSG00000027380 AA Change: I596T
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 benign
Transcript: ENSMUST00000089634
|
SMART Domains |
Protein: ENSMUSP00000087062 Gene: ENSMUSG00000027381
Domain | Start | End | E-Value | Type |
Pfam:Bim_N
|
4 |
40 |
1.7e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103210
|
SMART Domains |
Protein: ENSMUSP00000099499 Gene: ENSMUSG00000027381
Domain | Start | End | E-Value | Type |
Pfam:Bim_N
|
4 |
40 |
6.7e-24 |
PFAM |
Pfam:Bclx_interact
|
71 |
109 |
9.7e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103211
|
SMART Domains |
Protein: ENSMUSP00000099500 Gene: ENSMUSG00000027381
Domain | Start | End | E-Value | Type |
Pfam:Bim_N
|
4 |
40 |
1.2e-24 |
PFAM |
Pfam:Bclx_interact
|
41 |
79 |
1.1e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110341
|
SMART Domains |
Protein: ENSMUSP00000105970 Gene: ENSMUSG00000027381
Domain | Start | End | E-Value | Type |
Pfam:Bim_N
|
4 |
40 |
1.3e-24 |
PFAM |
low complexity region
|
80 |
90 |
N/A |
INTRINSIC |
Pfam:Bclx_interact
|
128 |
165 |
3.6e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110344
AA Change: I316T
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000105973 Gene: ENSMUSG00000027380 AA Change: I316T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129206
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146023
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
Birc7 |
G |
A |
2: 180,571,243 (GRCm39) |
D102N |
probably benign |
Het |
Cct8 |
A |
C |
16: 87,292,615 (GRCm39) |
|
probably null |
Het |
Cntn5 |
T |
C |
9: 10,144,328 (GRCm39) |
|
probably null |
Het |
Cyp11a1 |
A |
G |
9: 57,932,851 (GRCm39) |
N396D |
probably benign |
Het |
Dip2b |
T |
C |
15: 100,052,163 (GRCm39) |
S255P |
probably benign |
Het |
Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
Fancm |
T |
A |
12: 65,171,826 (GRCm39) |
M1822K |
probably damaging |
Het |
Far2 |
T |
C |
6: 148,058,995 (GRCm39) |
V227A |
probably benign |
Het |
Fbrsl1 |
A |
G |
5: 110,525,273 (GRCm39) |
F100L |
probably damaging |
Het |
Gpd2 |
T |
C |
2: 57,194,408 (GRCm39) |
S104P |
probably damaging |
Het |
Grp |
T |
C |
18: 66,006,824 (GRCm39) |
|
probably null |
Het |
Hamp |
A |
C |
7: 30,643,328 (GRCm39) |
H27Q |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,491,031 (GRCm39) |
S241C |
probably damaging |
Het |
Itsn2 |
T |
A |
12: 4,756,351 (GRCm39) |
I1349N |
probably damaging |
Het |
Nr4a2 |
A |
G |
2: 57,002,430 (GRCm39) |
Y8H |
probably damaging |
Het |
Or2ak7 |
T |
A |
11: 58,575,354 (GRCm39) |
Y218* |
probably null |
Het |
Or2w1 |
A |
T |
13: 21,317,245 (GRCm39) |
Q100L |
probably damaging |
Het |
Pla2g2e |
T |
C |
4: 138,607,736 (GRCm39) |
Y39H |
probably damaging |
Het |
Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
Prss1l |
T |
C |
6: 41,373,590 (GRCm39) |
V151A |
probably benign |
Het |
Ptpn20 |
A |
T |
14: 33,352,962 (GRCm39) |
T234S |
possibly damaging |
Het |
Smarca2 |
T |
A |
19: 26,655,763 (GRCm39) |
V810E |
probably damaging |
Het |
Taar2 |
A |
T |
10: 23,816,615 (GRCm39) |
M52L |
probably benign |
Het |
Tex47 |
A |
T |
5: 7,354,935 (GRCm39) |
R39* |
probably null |
Het |
Tnxb |
T |
A |
17: 34,911,398 (GRCm39) |
V1567D |
probably damaging |
Het |
Ttll6 |
T |
C |
11: 96,026,331 (GRCm39) |
Y79H |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfp462 |
C |
T |
4: 55,080,680 (GRCm39) |
T1344I |
probably benign |
Het |
Zfp804a |
A |
T |
2: 82,087,382 (GRCm39) |
I404L |
possibly damaging |
Het |
|
Other mutations in Acoxl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Acoxl
|
APN |
2 |
127,820,724 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAACTTTCTGTGTTGTGGGGAAC -3'
(R):5'- GACCAAAATCCCCAAGGTGG -3'
Sequencing Primer
(F):5'- GGAACCCACATTTTCTGCAC -3'
(R):5'- AATCCCCAAGGTGGCTGCC -3'
|
Posted On |
2018-04-02 |