Incidental Mutation 'R5545:Acot5'
| ID |
436196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acot5
|
| Ensembl Gene |
ENSMUSG00000042540 |
| Gene Name |
acyl-CoA thioesterase 5 |
| Synonyms |
PTE-Ic |
| MMRRC Submission |
043103-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5545 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
84116099-84122794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84116380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 47
(R47Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046422]
[ENSMUST00000072505]
|
| AlphaFold |
Q6Q2Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046422
AA Change: R47Q
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000042019
Gene: ENSMUSG00000042540
AA Change: R47Q
| 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 |
possibly damaging
Transcript: ENSMUST00000072505
AA Change: R47Q
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072322
Gene: ENSMUSG00000042540
AA Change: R47Q
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
C |
3: 145,644,853 (GRCm39) |
|
probably null |
Het |
| Akr1c19 |
A |
T |
13: 4,292,594 (GRCm39) |
Y205F |
probably benign |
Het |
| Cdh6 |
T |
C |
15: 13,041,235 (GRCm39) |
Y564C |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 95,978,801 (GRCm39) |
S551P |
|
Het |
| Cyp20a1 |
T |
C |
1: 60,415,241 (GRCm39) |
I289T |
possibly damaging |
Het |
| Herc6 |
A |
T |
6: 57,634,992 (GRCm39) |
|
probably null |
Het |
| Ifnar2 |
G |
A |
16: 91,181,913 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
A |
G |
6: 21,217,018 (GRCm39) |
T241A |
probably damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,989,642 (GRCm39) |
E247D |
possibly damaging |
Het |
| Or2k2 |
T |
G |
4: 58,785,585 (GRCm39) |
I46L |
probably benign |
Het |
| Or2o1 |
G |
A |
11: 49,051,453 (GRCm39) |
C204Y |
probably damaging |
Het |
| Pate10 |
A |
G |
9: 35,652,940 (GRCm39) |
I61V |
probably benign |
Het |
| Plekhg2 |
T |
C |
7: 28,061,886 (GRCm39) |
E638G |
probably damaging |
Het |
| Plin1 |
T |
C |
7: 79,376,257 (GRCm39) |
T160A |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,879,339 (GRCm39) |
N613I |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,709,830 (GRCm39) |
S1498G |
probably damaging |
Het |
| Ralbp1 |
C |
T |
17: 66,157,099 (GRCm39) |
R598Q |
possibly damaging |
Het |
| Robo2 |
A |
C |
16: 73,758,635 (GRCm39) |
V712G |
probably damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,017,514 (GRCm39) |
F151L |
probably damaging |
Het |
| Scrn3 |
T |
A |
2: 73,166,125 (GRCm39) |
I386N |
possibly damaging |
Het |
| Sorl1 |
T |
A |
9: 41,902,921 (GRCm39) |
Y1591F |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,637,720 (GRCm39) |
V93G |
possibly damaging |
Het |
| Tmem229b |
A |
G |
12: 79,011,583 (GRCm39) |
I116T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,594,720 (GRCm39) |
Q12115R |
possibly damaging |
Het |
| Ube3a |
C |
T |
7: 58,921,772 (GRCm39) |
T48M |
probably damaging |
Het |
| Vnn3 |
A |
G |
10: 23,742,992 (GRCm39) |
I401V |
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,064,830 (GRCm39) |
R1744H |
probably damaging |
Het |
| Zc3h7a |
T |
C |
16: 10,966,315 (GRCm39) |
D604G |
possibly damaging |
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 |
|
IGL03175:Acot5
|
APN |
12 |
84,122,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTTCATGGTCACAGC -3'
(R):5'- ATGAAGTGACGCTCGTGCAC -3'
Sequencing Primer
(F):5'- TTCATGGTCACAGCCTCCAGAAG -3'
(R):5'- TCGTGTCCGTCCAGCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation