Incidental Mutation 'IGL01920:Acat2'
| ID |
180065 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acat2
|
| Ensembl Gene |
ENSMUSG00000023832 |
| Gene Name |
acetyl-Coenzyme A acetyltransferase 2 |
| Synonyms |
Tcp1-rs1, Tcp-1x |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01920
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
13161929-13179612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13162912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 312
(I312T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125066
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007005]
[ENSMUST00000043923]
[ENSMUST00000159697]
[ENSMUST00000160378]
|
| AlphaFold |
Q8CAY6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007005
AA Change: I344T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000007005
Gene: ENSMUSG00000023832
AA Change: I344T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
8 |
267 |
8e-99 |
PFAM |
|
Pfam:Thiolase_C
|
274 |
396 |
1.8e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043923
|
| SMART Domains |
Protein: ENSMUSP00000045912
Gene: ENSMUSG00000062480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
8 |
267 |
2.9e-97 |
PFAM |
|
Pfam:Thiolase_C
|
274 |
396 |
1.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159358
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159697
AA Change: I312T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000125066
Gene: ENSMUSG00000023832
AA Change: I312T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
1 |
235 |
3.9e-91 |
PFAM |
|
Pfam:Thiolase_C
|
242 |
364 |
2.4e-53 |
PFAM |
|
Pfam:ACP_syn_III_C
|
273 |
364 |
9.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160378
|
| SMART Domains |
Protein: ENSMUSP00000125454
Gene: ENSMUSG00000062480
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
5 |
248 |
5.6e-91 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
T |
8: 111,769,878 (GRCm39) |
R326W |
probably damaging |
Het |
| Acad11 |
T |
C |
9: 103,941,104 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
T |
C |
5: 81,613,143 (GRCm39) |
V192A |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,730,459 (GRCm39) |
H643R |
probably damaging |
Het |
| Akap7 |
A |
T |
10: 25,165,501 (GRCm39) |
C85* |
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,642,636 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
G |
A |
7: 144,165,191 (GRCm39) |
|
probably benign |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,262 (GRCm39) |
L161P |
probably damaging |
Het |
| Dvl2 |
A |
G |
11: 69,898,873 (GRCm39) |
H420R |
probably benign |
Het |
| Fam135b |
G |
T |
15: 71,493,885 (GRCm39) |
H15N |
possibly damaging |
Het |
| Foxj1 |
G |
T |
11: 116,222,746 (GRCm39) |
H352Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,829,337 (GRCm39) |
I969M |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,131,258 (GRCm39) |
P544T |
probably benign |
Het |
| Or7g35 |
A |
C |
9: 19,496,318 (GRCm39) |
M162L |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,240,362 (GRCm39) |
L1224P |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,501,477 (GRCm39) |
N182S |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,421,471 (GRCm39) |
W594R |
probably damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,484,778 (GRCm39) |
A261T |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Vcan |
C |
T |
13: 89,837,324 (GRCm39) |
G2740E |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa7 |
G |
A |
17: 35,243,579 (GRCm39) |
V729I |
probably benign |
Het |
|
| Other mutations in Acat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0243:Acat2
|
UTSW |
17 |
13,162,908 (GRCm39) |
missense |
probably benign |
|
|
R4153:Acat2
|
UTSW |
17 |
13,171,153 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4224:Acat2
|
UTSW |
17 |
13,181,772 (GRCm39) |
unclassified |
probably benign |
|
|
R4332:Acat2
|
UTSW |
17 |
13,181,782 (GRCm39) |
unclassified |
probably benign |
|
|
R6219:Acat2
|
UTSW |
17 |
13,179,604 (GRCm39) |
unclassified |
probably benign |
|
|
R6605:Acat2
|
UTSW |
17 |
13,162,774 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6683:Acat2
|
UTSW |
17 |
13,162,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7313:Acat2
|
UTSW |
17 |
13,178,893 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7566:Acat2
|
UTSW |
17 |
13,166,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8294:Acat2
|
UTSW |
17 |
13,175,243 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9098:Acat2
|
UTSW |
17 |
13,178,979 (GRCm39) |
start gained |
probably benign |
|
|
R9341:Acat2
|
UTSW |
17 |
13,167,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Acat2
|
UTSW |
17 |
13,167,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation