Incidental Mutation 'R0328:Aacs'
| ID |
25846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aacs
|
| Ensembl Gene |
ENSMUSG00000029482 |
| Gene Name |
acetoacetyl-CoA synthetase |
| Synonyms |
2210408B16Rik |
| MMRRC Submission |
038537-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.654)
|
| Stock # |
R0328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
125552937-125594469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 125593323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 642
(V642A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031445
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031445]
|
| AlphaFold |
Q9D2R0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031445
AA Change: V642A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: V642A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200286
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.5%
- 20x: 90.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,574,624 (GRCm39) |
H618L |
possibly damaging |
Het |
| Alms1 |
A |
G |
6: 85,587,796 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
A |
G |
15: 76,636,152 (GRCm39) |
|
probably benign |
Het |
| Bard1 |
C |
T |
1: 71,085,921 (GRCm39) |
V595I |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,937,953 (GRCm39) |
K2713E |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,129,742 (GRCm39) |
G260D |
possibly damaging |
Het |
| Ccdc154 |
A |
C |
17: 25,390,779 (GRCm39) |
K643T |
probably benign |
Het |
| Ccl4 |
T |
A |
11: 83,554,383 (GRCm39) |
S59T |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,174,259 (GRCm39) |
S73P |
probably benign |
Het |
| Colgalt2 |
A |
T |
1: 152,348,859 (GRCm39) |
D168V |
probably damaging |
Het |
| Fam117a |
T |
C |
11: 95,266,452 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,827 (GRCm39) |
T1935A |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,975,653 (GRCm39) |
I248F |
possibly damaging |
Het |
| Fhod3 |
A |
T |
18: 25,246,657 (GRCm39) |
M1288L |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,885 (GRCm39) |
K578T |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,727,496 (GRCm39) |
|
probably benign |
Het |
| Helz |
G |
T |
11: 107,495,174 (GRCm39) |
A383S |
probably benign |
Het |
| Ift172 |
C |
A |
5: 31,421,195 (GRCm39) |
E968* |
probably null |
Het |
| Itpripl1 |
T |
C |
2: 126,983,924 (GRCm39) |
N66S |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,423,265 (GRCm39) |
Y686H |
probably damaging |
Het |
| Ndrg1 |
C |
A |
15: 66,815,008 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,297,216 (GRCm39) |
V545A |
probably benign |
Het |
| Or10al5 |
A |
G |
17: 38,063,284 (GRCm39) |
I180V |
possibly damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,269 (GRCm39) |
|
probably benign |
Het |
| Ppme1 |
A |
T |
7: 99,983,182 (GRCm39) |
|
probably null |
Het |
| Prkag1 |
T |
G |
15: 98,713,563 (GRCm39) |
D44A |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,090,145 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
C |
A |
11: 70,810,033 (GRCm39) |
R489S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,523,168 (GRCm39) |
V75A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,498,042 (GRCm39) |
L16P |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,997 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,595 (GRCm39) |
Y2277C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,298,945 (GRCm39) |
I1047T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 117,981,216 (GRCm39) |
Y369H |
probably benign |
Het |
| Tmem131l |
C |
T |
3: 83,829,238 (GRCm39) |
|
probably benign |
Het |
| Traf3ip2 |
A |
T |
10: 39,510,669 (GRCm39) |
D314V |
probably damaging |
Het |
| Ttc28 |
T |
G |
5: 111,431,933 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,872 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,602,969 (GRCm39) |
Y1884N |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,251 (GRCm39) |
I502K |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,791,744 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,699 (GRCm39) |
I852M |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,405 (GRCm39) |
E414D |
probably benign |
Het |
| Wnt4 |
A |
G |
4: 137,022,754 (GRCm39) |
T106A |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,807 (GRCm39) |
N76K |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,445 (GRCm39) |
T885A |
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 |
|
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 |
|
R3766: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'- TGTGTTCGAAGCCACCGCATAG -3'
(R):5'- CTCCGAAAGAGGAAAGCTGTTCCTG -3'
Sequencing Primer
(F):5'- ACCGCATAGCTGGGTTTATGG -3'
(R):5'- AAAGCTGTTCCTGAGCCTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation