Incidental Mutation 'R5392:Acoxl'
ID |
425890 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acoxl
|
Ensembl Gene |
ENSMUSG00000027380 |
Gene Name |
acyl-Coenzyme A oxidase-like |
Synonyms |
1200014P05Rik |
MMRRC Submission |
042964-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5392 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
127680796-127965793 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 127852088 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028859]
[ENSMUST00000110344]
|
AlphaFold |
Q9DBS4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028859
|
SMART Domains |
Protein: ENSMUSP00000028859 Gene: ENSMUSG00000027380
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 null
Transcript: ENSMUST00000110344
|
SMART Domains |
Protein: ENSMUSP00000105973 Gene: ENSMUSG00000027380
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp1 |
T |
C |
12: 85,325,759 (GRCm39) |
|
probably benign |
Het |
Ces1b |
G |
A |
8: 93,798,590 (GRCm39) |
R199C |
probably damaging |
Het |
Col6a3 |
C |
A |
1: 90,729,017 (GRCm39) |
R1308L |
probably benign |
Het |
Cpa5 |
C |
T |
6: 30,630,829 (GRCm39) |
Q364* |
probably null |
Het |
Cyth4 |
T |
A |
15: 78,491,185 (GRCm39) |
L88Q |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,896,243 (GRCm39) |
V59A |
probably damaging |
Het |
Drd2 |
A |
G |
9: 49,306,928 (GRCm39) |
N5D |
possibly damaging |
Het |
Epsti1 |
T |
C |
14: 78,224,184 (GRCm39) |
I272T |
probably benign |
Het |
Fndc3b |
A |
T |
3: 27,519,936 (GRCm39) |
C568* |
probably null |
Het |
Frmd4a |
C |
T |
2: 4,599,384 (GRCm39) |
A161V |
probably damaging |
Het |
Gfpt1 |
A |
G |
6: 87,054,139 (GRCm39) |
T465A |
probably damaging |
Het |
Hecw1 |
C |
A |
13: 14,420,347 (GRCm39) |
Q1025H |
probably damaging |
Het |
Irak4 |
A |
T |
15: 94,454,565 (GRCm39) |
M237L |
probably benign |
Het |
Irak4 |
T |
C |
15: 94,454,566 (GRCm39) |
M237T |
probably benign |
Het |
Kdsr |
T |
A |
1: 106,680,971 (GRCm39) |
I76F |
possibly damaging |
Het |
Kif15 |
T |
C |
9: 122,825,360 (GRCm39) |
F533S |
probably damaging |
Het |
Kmt5b |
T |
C |
19: 3,852,127 (GRCm39) |
F103L |
possibly damaging |
Het |
Krtcap2 |
C |
T |
3: 89,154,186 (GRCm39) |
L36F |
probably benign |
Het |
Mroh7 |
A |
G |
4: 106,568,448 (GRCm39) |
|
probably null |
Het |
Mta1 |
T |
C |
12: 113,096,856 (GRCm39) |
V559A |
probably benign |
Het |
N4bp1 |
A |
G |
8: 87,587,048 (GRCm39) |
|
probably null |
Het |
Oas1d |
T |
C |
5: 121,055,003 (GRCm39) |
S192P |
possibly damaging |
Het |
Or1n1b |
T |
A |
2: 36,780,686 (GRCm39) |
Y58F |
probably benign |
Het |
Or6c76 |
A |
G |
10: 129,612,184 (GRCm39) |
I149V |
probably benign |
Het |
Or6d15 |
A |
G |
6: 116,559,379 (GRCm39) |
F176S |
probably damaging |
Het |
Rabgap1 |
T |
A |
2: 37,359,501 (GRCm39) |
N21K |
probably damaging |
Het |
Rad9b |
A |
T |
5: 122,489,641 (GRCm39) |
C25S |
probably damaging |
Het |
Spg7 |
T |
C |
8: 123,814,102 (GRCm39) |
S454P |
probably damaging |
Het |
Spink2 |
T |
A |
5: 77,354,872 (GRCm39) |
H40L |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,298,661 (GRCm39) |
D1082V |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,671,759 (GRCm39) |
D179G |
probably damaging |
Het |
Tm7sf2 |
T |
C |
19: 6,113,998 (GRCm39) |
D181G |
probably damaging |
Het |
Vmn1r174 |
A |
G |
7: 23,454,227 (GRCm39) |
I298V |
unknown |
Het |
Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vps9d1 |
T |
C |
8: 123,980,752 (GRCm39) |
E25G |
probably damaging |
Het |
Zfp119a |
T |
C |
17: 56,173,328 (GRCm39) |
R172G |
probably benign |
Het |
Zfp51 |
A |
T |
17: 21,685,584 (GRCm39) |
Y733F |
possibly damaging |
Het |
Zfp658 |
A |
C |
7: 43,222,355 (GRCm39) |
E210A |
probably benign |
Het |
Zp2 |
C |
A |
7: 119,734,987 (GRCm39) |
E433* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGACCTCAAAGCTAATGTG -3'
(R):5'- TCTGACTTAGTACATGCTAGTGG -3'
Sequencing Primer
(F):5'- TTTTCCTCTTCAATGATCTGTGC -3'
(R):5'- GACTTAGTACATGCTAGTGGTTTTC -3'
|
Posted On |
2016-08-04 |