Incidental Mutation 'R1257:Acoxl'
| ID |
151485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acoxl
|
| Ensembl Gene |
ENSMUSG00000027380 |
| Gene Name |
acyl-Coenzyme A oxidase-like |
| Synonyms |
1200014P05Rik |
| MMRRC Submission |
039324-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1257 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127680796-127965793 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127886286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 174
(T174S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028859]
[ENSMUST00000110344]
|
| AlphaFold |
Q9DBS4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028859
AA Change: T454S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028859
Gene: ENSMUSG00000027380
AA Change: T454S
| 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: ENSMUST00000110344
AA Change: T174S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000105973
Gene: ENSMUSG00000027380
AA Change: T174S
| 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: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
C |
T |
10: 69,710,665 (GRCm39) |
R408* |
probably null |
Het |
| Ceacam15 |
A |
G |
7: 16,405,949 (GRCm39) |
S201P |
possibly damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,708,117 (GRCm39) |
I241V |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,234,545 (GRCm39) |
L237* |
probably null |
Het |
| Col4a3 |
T |
A |
1: 82,694,086 (GRCm39) |
C133S |
probably damaging |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,360 (GRCm39) |
V1568D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,900,581 (GRCm39) |
Q1323* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,989,045 (GRCm39) |
N287S |
probably damaging |
Het |
| H2bl1 |
A |
T |
13: 99,121,023 (GRCm39) |
M1K |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,456,687 (GRCm39) |
W684* |
probably null |
Het |
| Kifc3 |
A |
G |
8: 95,832,400 (GRCm39) |
V474A |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,425,467 (GRCm39) |
V1462A |
unknown |
Het |
| Mdn1 |
A |
T |
4: 32,667,089 (GRCm39) |
|
probably null |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,658,375 (GRCm39) |
Y707H |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,903,738 (GRCm39) |
N339K |
probably damaging |
Het |
| Or6c209 |
A |
T |
10: 129,483,413 (GRCm39) |
K139* |
probably null |
Het |
| Rbm34 |
C |
T |
8: 127,697,643 (GRCm39) |
G23S |
possibly damaging |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Snap25 |
A |
T |
2: 136,600,268 (GRCm39) |
E37V |
probably damaging |
Het |
| Taf1a |
A |
G |
1: 183,179,175 (GRCm39) |
T118A |
possibly damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,049 (GRCm39) |
T1634A |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,642 (GRCm38) |
I122K |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,036 (GRCm39) |
I385L |
probably benign |
Het |
| Zeb1 |
G |
T |
18: 5,772,699 (GRCm39) |
R996L |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTCAGCTTTCTTCTTCTACTACAGGA -3'
(R):5'- ACACAGGGCTCAGCTATGCCTTAC -3'
Sequencing Primer
(F):5'- agagagagagagagagagagagag -3'
(R):5'- GCTATGCCTTACACATTCATCAAAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation