Incidental Mutation 'R6586:Acaa1a'
| ID |
524422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acaa1a
|
| Ensembl Gene |
ENSMUSG00000036138 |
| Gene Name |
acetyl-Coenzyme A acyltransferase 1A |
| Synonyms |
Acaa1, D9Ertd25e, peroxisomal 3-ketoacyl-CoA thiolase, thiolase A, PTL |
| MMRRC Submission |
044710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6586 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119170094-119179361 bp(+) (GRCm39) |
| Type of Mutation |
splice site (1755 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 119178604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135310
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039784]
[ENSMUST00000170400]
[ENSMUST00000175743]
[ENSMUST00000176397]
[ENSMUST00000177463]
[ENSMUST00000176546]
|
| AlphaFold |
Q921H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039784
AA Change: N367S
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042351
Gene: ENSMUSG00000036138
AA Change: N367S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
38 |
291 |
3.6e-88 |
PFAM |
|
Pfam:Thiolase_C
|
298 |
421 |
3e-53 |
PFAM |
|
Pfam:ACP_syn_III_C
|
329 |
420 |
1.8e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170400
|
| SMART Domains |
Protein: ENSMUSP00000131982
Gene: ENSMUSG00000070280
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
150 |
555 |
1.2e-28 |
PFAM |
|
Pfam:MFS_1
|
178 |
514 |
7.6e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175719
|
| Predicted Effect |
silent
Transcript: ENSMUST00000175743
|
| SMART Domains |
Protein: ENSMUSP00000135439
Gene: ENSMUSG00000036138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
35 |
291 |
4.2e-90 |
PFAM |
|
Pfam:Thiolase_C
|
298 |
337 |
8.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175859
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176007
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176397
AA Change: N274S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135191
Gene: ENSMUSG00000036138
AA Change: N274S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
35 |
152 |
4.9e-38 |
PFAM |
|
Pfam:Thiolase_N
|
148 |
246 |
4.8e-34 |
PFAM |
|
Pfam:Thiolase_C
|
214 |
328 |
5.9e-41 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177463
|
| SMART Domains |
Protein: ENSMUSP00000135310
Gene: ENSMUSG00000036138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
35 |
199 |
3.2e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176546
|
| SMART Domains |
Protein: ENSMUSP00000134981
Gene: ENSMUSG00000036138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thiolase_N
|
1 |
110 |
4.1e-33 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176796
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,639 (GRCm39) |
F265L |
possibly damaging |
Het |
| 9930022D16Rik |
A |
G |
11: 109,308,786 (GRCm39) |
T51A |
unknown |
Het |
| Clasp2 |
T |
C |
9: 113,642,332 (GRCm39) |
S280P |
probably damaging |
Het |
| Cnga3 |
T |
C |
1: 37,300,359 (GRCm39) |
S398P |
probably damaging |
Het |
| Cngb3 |
T |
G |
4: 19,280,946 (GRCm39) |
L5R |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,070,662 (GRCm39) |
F282L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dnm2 |
T |
C |
9: 21,416,942 (GRCm39) |
F825S |
probably benign |
Het |
| Egfem1 |
T |
A |
3: 29,716,560 (GRCm39) |
C343* |
probably null |
Het |
| Fah |
T |
A |
7: 84,242,468 (GRCm39) |
D280V |
probably benign |
Het |
| Fiz1 |
C |
T |
7: 5,011,400 (GRCm39) |
A373T |
possibly damaging |
Het |
| Flg |
A |
T |
3: 93,200,290 (GRCm39) |
|
probably benign |
Het |
| Flnb |
A |
G |
14: 7,929,138 (GRCm38) |
R1956G |
possibly damaging |
Het |
| Mterf2 |
A |
G |
10: 84,955,970 (GRCm39) |
F218S |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,996,899 (GRCm39) |
V868A |
probably benign |
Het |
| Nrip2 |
T |
A |
6: 128,381,911 (GRCm39) |
C85* |
probably null |
Het |
| Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or51v14 |
T |
A |
7: 103,261,183 (GRCm39) |
I126F |
possibly damaging |
Het |
| Palm |
A |
C |
10: 79,645,365 (GRCm39) |
N111H |
probably benign |
Het |
| Pipox |
T |
C |
11: 77,772,005 (GRCm39) |
D373G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,059,287 (GRCm39) |
G3540D |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,416,197 (GRCm39) |
T567A |
probably damaging |
Het |
| Psg28 |
T |
C |
7: 18,164,469 (GRCm39) |
Y81C |
probably damaging |
Het |
| Rarres1 |
A |
T |
3: 67,398,366 (GRCm39) |
N131K |
probably damaging |
Het |
| Rbbp8nl |
G |
A |
2: 179,922,752 (GRCm39) |
H214Y |
probably damaging |
Het |
| Styxl2 |
T |
C |
1: 165,928,454 (GRCm39) |
E386G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,952 (GRCm39) |
T164A |
probably benign |
Het |
| Tmco3 |
G |
T |
8: 13,370,894 (GRCm39) |
|
probably benign |
Het |
| Tnpo2 |
T |
A |
8: 85,771,831 (GRCm39) |
M259K |
possibly damaging |
Het |
| Tns4 |
T |
C |
11: 98,971,093 (GRCm39) |
R206G |
probably benign |
Het |
| Trim60 |
G |
T |
8: 65,453,248 (GRCm39) |
L334I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,560,754 (GRCm39) |
T29216A |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,446 (GRCm39) |
N218I |
probably benign |
Het |
| Vps25 |
T |
G |
11: 101,149,835 (GRCm39) |
V125G |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,978,855 (GRCm39) |
D455G |
probably benign |
Het |
| Ythdf2 |
A |
T |
4: 131,932,911 (GRCm39) |
M83K |
probably benign |
Het |
|
| Other mutations in Acaa1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0632:Acaa1a
|
UTSW |
9 |
119,176,884 (GRCm39) |
unclassified |
probably benign |
|
|
R3418:Acaa1a
|
UTSW |
9 |
119,178,556 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4617:Acaa1a
|
UTSW |
9 |
119,178,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4908:Acaa1a
|
UTSW |
9 |
119,177,772 (GRCm39) |
missense |
probably benign |
|
|
R4912:Acaa1a
|
UTSW |
9 |
119,171,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Acaa1a
|
UTSW |
9 |
119,170,630 (GRCm39) |
nonsense |
probably null |
|
|
R7040:Acaa1a
|
UTSW |
9 |
119,178,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7500:Acaa1a
|
UTSW |
9 |
119,173,564 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8993:Acaa1a
|
UTSW |
9 |
119,178,418 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9173:Acaa1a
|
UTSW |
9 |
119,170,190 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTTGTCTACAGGGCTGACTG -3'
(R):5'- CCCAGTTCAGAACACCTGTG -3'
Sequencing Primer
(F):5'- GCTGACTGTGAATGACATAGACATC -3'
(R):5'- CACCTGTGTGTGGGTGCTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation