Incidental Mutation 'R2904:Acot4'
ID |
261591 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acot4
|
Ensembl Gene |
ENSMUSG00000052392 |
Gene Name |
acyl-CoA thioesterase 4 |
Synonyms |
PTE-Ib, Pte2b, B430212I04Rik |
MMRRC Submission |
040491-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2904 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
84084028-84091497 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 84090377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 358
(T358S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021652]
|
AlphaFold |
Q8BWN8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021652
AA Change: T358S
PolyPhen 2
Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000021652 Gene: ENSMUSG00000052392 AA Change: T358S
Domain | Start | End | E-Value | Type |
Pfam:Bile_Hydr_Trans
|
16 |
141 |
3.4e-43 |
PFAM |
low complexity region
|
148 |
159 |
N/A |
INTRINSIC |
Pfam:Abhydrolase_5
|
162 |
361 |
1e-6 |
PFAM |
Pfam:FSH1
|
193 |
364 |
3.5e-5 |
PFAM |
Pfam:BAAT_C
|
203 |
412 |
1.1e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180751
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221229
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221860
|
Meta Mutation Damage Score |
0.3883 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (30/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abraxas1 |
T |
C |
5: 100,957,673 (GRCm39) |
E182G |
probably benign |
Het |
Ap2a2 |
A |
G |
7: 141,199,391 (GRCm39) |
K433E |
probably damaging |
Het |
Card11 |
T |
A |
5: 140,874,888 (GRCm39) |
D592V |
probably benign |
Het |
Col12a1 |
G |
T |
9: 79,559,307 (GRCm39) |
S1860R |
probably damaging |
Het |
Crisp1 |
C |
T |
17: 40,623,895 (GRCm39) |
|
probably null |
Het |
Dzip1l |
A |
G |
9: 99,545,722 (GRCm39) |
E657G |
probably damaging |
Het |
Gak |
T |
C |
5: 108,772,080 (GRCm39) |
N79S |
possibly damaging |
Het |
Gm9791 |
T |
C |
3: 34,059,336 (GRCm39) |
|
noncoding transcript |
Het |
Gmpr2 |
T |
C |
14: 55,910,215 (GRCm39) |
V15A |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,430,787 (GRCm39) |
|
probably benign |
Het |
Ift56 |
T |
C |
6: 38,378,037 (GRCm39) |
V283A |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kdm4b |
G |
A |
17: 56,662,884 (GRCm39) |
G152S |
probably benign |
Het |
Kdm6b |
G |
A |
11: 69,296,611 (GRCm39) |
T552I |
possibly damaging |
Het |
Kdr |
T |
C |
5: 76,127,069 (GRCm39) |
Y307C |
probably damaging |
Het |
Kif11 |
T |
C |
19: 37,392,103 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Madd |
C |
T |
2: 91,006,017 (GRCm39) |
V20M |
probably damaging |
Het |
Mkrn3 |
C |
A |
7: 62,068,207 (GRCm39) |
R528L |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,148,348 (GRCm39) |
V508A |
probably benign |
Het |
Nav1 |
T |
C |
1: 135,512,976 (GRCm39) |
D28G |
probably benign |
Het |
Nlrp4b |
T |
A |
7: 10,448,294 (GRCm39) |
W166R |
probably damaging |
Het |
Or14j2 |
A |
T |
17: 37,885,705 (GRCm39) |
L203Q |
possibly damaging |
Het |
Or5p59 |
T |
C |
7: 107,702,806 (GRCm39) |
Y97H |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,553,756 (GRCm39) |
D119V |
possibly damaging |
Het |
Smarcc1 |
A |
G |
9: 110,003,043 (GRCm39) |
N378D |
possibly damaging |
Het |
Tas2r118 |
A |
G |
6: 23,969,801 (GRCm39) |
F87L |
possibly damaging |
Het |
Tasor2 |
T |
C |
13: 3,632,185 (GRCm39) |
N772S |
possibly damaging |
Het |
Trim21 |
A |
G |
7: 102,209,178 (GRCm39) |
W282R |
probably benign |
Het |
Uggt2 |
T |
A |
14: 119,296,521 (GRCm39) |
Y447F |
possibly damaging |
Het |
Zfp160 |
G |
A |
17: 21,245,911 (GRCm39) |
V154I |
probably benign |
Het |
|
Other mutations in Acot4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02255:Acot4
|
APN |
12 |
84,088,799 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02806:Acot4
|
APN |
12 |
84,088,737 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Acot4
|
APN |
12 |
84,090,235 (GRCm39) |
missense |
probably benign |
|
R1827:Acot4
|
UTSW |
12 |
84,088,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R2105:Acot4
|
UTSW |
12 |
84,085,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Acot4
|
UTSW |
12 |
84,088,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R3859:Acot4
|
UTSW |
12 |
84,090,218 (GRCm39) |
missense |
probably benign |
0.17 |
R3904:Acot4
|
UTSW |
12 |
84,090,101 (GRCm39) |
splice site |
probably null |
|
R4190:Acot4
|
UTSW |
12 |
84,089,948 (GRCm39) |
intron |
probably benign |
|
R4192:Acot4
|
UTSW |
12 |
84,089,948 (GRCm39) |
intron |
probably benign |
|
R4541:Acot4
|
UTSW |
12 |
84,090,022 (GRCm39) |
missense |
probably benign |
0.38 |
R5061:Acot4
|
UTSW |
12 |
84,085,475 (GRCm39) |
missense |
probably benign |
0.03 |
R5682:Acot4
|
UTSW |
12 |
84,085,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R5864:Acot4
|
UTSW |
12 |
84,090,178 (GRCm39) |
missense |
probably benign |
0.04 |
R6818:Acot4
|
UTSW |
12 |
84,088,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Acot4
|
UTSW |
12 |
84,090,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R7700:Acot4
|
UTSW |
12 |
84,090,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R8260:Acot4
|
UTSW |
12 |
84,088,809 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8974:Acot4
|
UTSW |
12 |
84,090,515 (GRCm39) |
missense |
probably benign |
|
R9003:Acot4
|
UTSW |
12 |
84,089,969 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9246:Acot4
|
UTSW |
12 |
84,090,097 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTAGGAGGCTGTGAGAACC -3'
(R):5'- AATCTACCATGTCTGTTACAGGC -3'
Sequencing Primer
(F):5'- CTGTGAGAACCCCAGCATG -3'
(R):5'- ACTACAGTCTACAGGAGGCTCTG -3'
|
Posted On |
2015-01-23 |