Incidental Mutation 'R3766:Aacs'
| ID |
274702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aacs
|
| Ensembl Gene |
ENSMUSG00000029482 |
| Gene Name |
acetoacetyl-CoA synthetase |
| Synonyms |
2210408B16Rik |
| MMRRC Submission |
040743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R3766 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
125552937-125594469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125583326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 294
(T294M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031445]
|
| AlphaFold |
Q9D2R0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031445
AA Change: T294M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: T294M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACAS_N
|
47 |
105 |
1.1e-11 |
PFAM |
|
Pfam:AMP-binding
|
103 |
546 |
1.7e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131355
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144361
|
| Meta Mutation Damage Score |
0.5191 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brf2 |
G |
T |
8: 27,614,496 (GRCm39) |
T230N |
possibly damaging |
Het |
| Ccne2 |
A |
G |
4: 11,199,293 (GRCm39) |
|
probably benign |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Cttnbp2nl |
G |
A |
3: 104,912,117 (GRCm39) |
T589I |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,514,643 (GRCm39) |
S1091P |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,442,316 (GRCm39) |
V178A |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,003,253 (GRCm39) |
S111P |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gm29394 |
C |
T |
15: 57,912,024 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,813,572 (GRCm39) |
D2601G |
probably damaging |
Het |
| Hspa13 |
T |
C |
16: 75,561,974 (GRCm39) |
D75G |
probably benign |
Het |
| Itgav |
T |
C |
2: 83,632,229 (GRCm39) |
|
probably null |
Het |
| Kif6 |
A |
T |
17: 50,065,671 (GRCm39) |
|
probably benign |
Het |
| Lypla1 |
G |
A |
1: 4,911,201 (GRCm39) |
R104Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,595 (GRCm39) |
K709E |
unknown |
Het |
| Or52l1 |
A |
T |
7: 104,830,088 (GRCm39) |
I159K |
probably damaging |
Het |
| Or56b1b |
G |
A |
7: 108,164,402 (GRCm39) |
P200L |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,249 (GRCm39) |
K70* |
probably null |
Het |
| Pex5l |
T |
G |
3: 33,061,327 (GRCm39) |
D174A |
probably benign |
Het |
| Plac8l1 |
A |
T |
18: 42,313,460 (GRCm39) |
M94K |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,311,757 (GRCm39) |
|
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,208,996 (GRCm39) |
T471A |
probably benign |
Het |
| Pus3 |
C |
A |
9: 35,477,968 (GRCm39) |
T400K |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,136,863 (GRCm38) |
|
probably benign |
Het |
| Rapgef2 |
T |
C |
3: 78,996,057 (GRCm39) |
T569A |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,964 (GRCm39) |
Q292R |
possibly damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc45a1 |
T |
C |
4: 150,722,517 (GRCm39) |
R456G |
probably damaging |
Het |
| Sox13 |
T |
C |
1: 133,318,536 (GRCm39) |
R81G |
possibly damaging |
Het |
| Spag9 |
A |
G |
11: 93,951,109 (GRCm39) |
|
probably benign |
Het |
| Ston1 |
C |
T |
17: 88,942,788 (GRCm39) |
P65S |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Tcim |
T |
A |
8: 24,928,765 (GRCm39) |
R50W |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Trim59 |
A |
G |
3: 68,944,137 (GRCm39) |
V401A |
probably benign |
Het |
| Trpm3 |
A |
C |
19: 22,425,741 (GRCm39) |
Q32P |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,480,614 (GRCm39) |
M1018K |
probably damaging |
Het |
| Ube2o |
A |
G |
11: 116,437,689 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uvrag |
G |
T |
7: 98,537,350 (GRCm39) |
S615* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,929 (GRCm39) |
I302L |
probably benign |
Het |
| Vmn2r73 |
C |
T |
7: 85,521,198 (GRCm39) |
V257I |
probably benign |
Het |
|
| Other mutations in Aacs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Aacs
|
APN |
5 |
125,591,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00155:Aacs
|
APN |
5 |
125,590,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00906:Aacs
|
APN |
5 |
125,580,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00910:Aacs
|
APN |
5 |
125,585,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01613:Aacs
|
APN |
5 |
125,589,716 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01796:Aacs
|
APN |
5 |
125,590,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02155:Aacs
|
APN |
5 |
125,583,350 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02585:Aacs
|
APN |
5 |
125,592,121 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL03218:Aacs
|
APN |
5 |
125,561,727 (GRCm39) |
splice site |
probably null |
|
|
PIT4283001:Aacs
|
UTSW |
5 |
125,561,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0328:Aacs
|
UTSW |
5 |
125,593,323 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1478:Aacs
|
UTSW |
5 |
125,580,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1511:Aacs
|
UTSW |
5 |
125,592,041 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1544:Aacs
|
UTSW |
5 |
125,593,394 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1616:Aacs
|
UTSW |
5 |
125,561,590 (GRCm39) |
splice site |
probably null |
|
|
R1709:Aacs
|
UTSW |
5 |
125,566,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1725:Aacs
|
UTSW |
5 |
125,559,999 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2424:Aacs
|
UTSW |
5 |
125,590,159 (GRCm39) |
splice site |
probably null |
|
|
R2472:Aacs
|
UTSW |
5 |
125,583,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3612:Aacs
|
UTSW |
5 |
125,580,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Aacs
|
UTSW |
5 |
125,583,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4740:Aacs
|
UTSW |
5 |
125,583,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Aacs
|
UTSW |
5 |
125,583,224 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5433:Aacs
|
UTSW |
5 |
125,592,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5477:Aacs
|
UTSW |
5 |
125,588,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5863:Aacs
|
UTSW |
5 |
125,580,287 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6919:Aacs
|
UTSW |
5 |
125,583,227 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6943:Aacs
|
UTSW |
5 |
125,583,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7543:Aacs
|
UTSW |
5 |
125,559,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Aacs
|
UTSW |
5 |
125,583,271 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7923:Aacs
|
UTSW |
5 |
125,588,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9667:Aacs
|
UTSW |
5 |
125,580,691 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGCTCTTGTGGTAGATG -3'
(R):5'- AGGACTGCAGTGTTCTCTTG -3'
Sequencing Primer
(F):5'- GATCCTGGGCCATATCTAGCTG -3'
(R):5'- GCAGTGTTCTCTTGCTCCAGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation