Incidental Mutation 'IGL03175:Acot5'
| ID |
411976 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acot5
|
| Ensembl Gene |
ENSMUSG00000042540 |
| Gene Name |
acyl-CoA thioesterase 5 |
| Synonyms |
PTE-Ic |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03175
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84116099-84122794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84122103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 229
(L229P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046422]
[ENSMUST00000072505]
|
| AlphaFold |
Q6Q2Z6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046422
AA Change: L229P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042019
Gene: ENSMUSG00000042540
AA Change: L229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
16 |
141 |
7.4e-44 |
PFAM |
|
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
|
Pfam:BAAT_C
|
203 |
412 |
3.5e-83 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072505
AA Change: L229P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072322
Gene: ENSMUSG00000042540
AA Change: L229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bile_Hydr_Trans
|
15 |
142 |
1.6e-42 |
PFAM |
|
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
|
Pfam:BAAT_C
|
203 |
313 |
1.4e-29 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
T |
15: 94,171,136 (GRCm39) |
W1862* |
probably null |
Het |
| Adgrg6 |
A |
G |
10: 14,315,502 (GRCm39) |
S601P |
probably benign |
Het |
| Bpifb3 |
T |
C |
2: 153,761,568 (GRCm39) |
Y6H |
unknown |
Het |
| Calr3 |
A |
G |
8: 73,197,449 (GRCm39) |
F27L |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,437 (GRCm39) |
Q247R |
probably benign |
Het |
| Cldn20 |
T |
C |
17: 3,583,409 (GRCm39) |
I194T |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,840,952 (GRCm39) |
P468S |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,058,672 (GRCm39) |
E253D |
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,876,259 (GRCm39) |
T475S |
probably benign |
Het |
| Fam98b |
A |
G |
2: 117,089,719 (GRCm39) |
S79G |
probably benign |
Het |
| Galnt14 |
C |
A |
17: 73,829,649 (GRCm39) |
D299Y |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,965,416 (GRCm39) |
E470G |
possibly damaging |
Het |
| Hmmr |
T |
C |
11: 40,605,636 (GRCm39) |
M318V |
probably benign |
Het |
| Il17rd |
T |
A |
14: 26,821,963 (GRCm39) |
I419K |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,342,410 (GRCm39) |
F412L |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,925 (GRCm39) |
T308K |
probably benign |
Het |
| Sel1l3 |
A |
G |
5: 53,279,199 (GRCm39) |
Y955H |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,127,304 (GRCm39) |
I916V |
probably damaging |
Het |
| Smg9 |
A |
G |
7: 24,121,730 (GRCm39) |
H497R |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 44,012,671 (GRCm39) |
I635T |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,438,686 (GRCm39) |
V3416A |
probably benign |
Het |
|
| Other mutations in Acot5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01394:Acot5
|
APN |
12 |
84,122,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01978:Acot5
|
APN |
12 |
84,122,172 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0840:Acot5
|
UTSW |
12 |
84,122,614 (GRCm39) |
nonsense |
probably null |
|
|
R1720:Acot5
|
UTSW |
12 |
84,122,655 (GRCm39) |
missense |
probably benign |
|
|
R1735:Acot5
|
UTSW |
12 |
84,122,261 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2258:Acot5
|
UTSW |
12 |
84,122,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2260:Acot5
|
UTSW |
12 |
84,122,643 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2307:Acot5
|
UTSW |
12 |
84,122,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2655:Acot5
|
UTSW |
12 |
84,122,650 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5291:Acot5
|
UTSW |
12 |
84,120,293 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5302:Acot5
|
UTSW |
12 |
84,120,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5545:Acot5
|
UTSW |
12 |
84,116,380 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5999:Acot5
|
UTSW |
12 |
84,122,328 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6485:Acot5
|
UTSW |
12 |
84,122,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7554:Acot5
|
UTSW |
12 |
84,120,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7663:Acot5
|
UTSW |
12 |
84,116,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7833:Acot5
|
UTSW |
12 |
84,122,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9005:Acot5
|
UTSW |
12 |
84,116,630 (GRCm39) |
missense |
|
|
|
Z1177:Acot5
|
UTSW |
12 |
84,116,668 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2016-08-02 |
Incidental Mutation