Incidental Mutation 'R4370:Acoxl'
| ID |
325944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acoxl
|
| Ensembl Gene |
ENSMUSG00000027380 |
| Gene Name |
acyl-Coenzyme A oxidase-like |
| Synonyms |
1200014P05Rik |
| MMRRC Submission |
041674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
127680796-127965793 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127720708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 190
(D190E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028859]
|
| AlphaFold |
Q9DBS4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028859
AA Change: D190E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028859
Gene: ENSMUSG00000027380
AA Change: D190E
| 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 |
noncoding transcript
Transcript: ENSMUST00000126410
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,793,196 (GRCm39) |
N809K |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bmal2 |
A |
T |
6: 146,711,149 (GRCm39) |
E51V |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,626 (GRCm39) |
S11F |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,653,299 (GRCm39) |
I289M |
probably damaging |
Het |
| Cdhr18 |
C |
T |
14: 13,862,375 (GRCm38) |
S393N |
probably benign |
Het |
| Cfap100 |
A |
T |
6: 90,390,376 (GRCm39) |
I242N |
probably damaging |
Het |
| Dst |
GAA |
GA |
1: 34,290,809 (GRCm39) |
|
probably null |
Het |
| Epdr1 |
C |
A |
13: 19,803,576 (GRCm39) |
V53F |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,895,844 (GRCm39) |
M1574T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krtap4-7 |
G |
A |
11: 99,534,543 (GRCm39) |
P107S |
unknown |
Het |
| Lrp6 |
A |
C |
6: 134,483,321 (GRCm39) |
Y461* |
probably null |
Het |
| Mecom |
T |
A |
3: 30,011,504 (GRCm39) |
E723V |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,138,524 (GRCm39) |
I258N |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,315 (GRCm39) |
V203A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,956 (GRCm39) |
M39L |
probably benign |
Het |
| Or8k32 |
A |
T |
2: 86,368,764 (GRCm39) |
I165N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,771 (GRCm39) |
D730G |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,449,758 (GRCm39) |
R3935G |
probably damaging |
Het |
| Setd5 |
A |
G |
6: 113,098,766 (GRCm39) |
K800E |
probably damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,579,475 (GRCm39) |
Q596K |
probably benign |
Het |
| Slc38a4 |
T |
A |
15: 96,906,965 (GRCm39) |
N258Y |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,443,282 (GRCm39) |
S2051G |
probably null |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,966,221 (GRCm39) |
R478* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,985,525 (GRCm39) |
Y443H |
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,648,870 (GRCm39) |
D113E |
probably benign |
Het |
| Trio |
C |
A |
15: 27,748,423 (GRCm39) |
E1266* |
probably null |
Het |
| Usp40 |
T |
C |
1: 87,925,597 (GRCm39) |
I211V |
probably benign |
Het |
| Zfp791 |
C |
T |
8: 85,840,235 (GRCm39) |
V11M |
probably 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 |
|
|
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'- TACAAGGTCGAGTCTAGGGC -3'
(R):5'- GTATACTCCCTGGAAAGACCCC -3'
Sequencing Primer
(F):5'- TCGAGTCTAGGGCCAGCTATATAG -3'
(R):5'- TCGAGAACAGACAACAGGT -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation