Incidental Mutation 'IGL02321:Acsf3'
| ID |
288227 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acsf3
|
| Ensembl Gene |
ENSMUSG00000015016 |
| Gene Name |
acyl-CoA synthetase family member 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.272)
|
| Stock # |
IGL02321
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123502225-123544619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 123506853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 49
(R49C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015160]
[ENSMUST00000127664]
[ENSMUST00000212781]
[ENSMUST00000212790]
|
| AlphaFold |
Q3URE1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015160
AA Change: R49C
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: R49C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
47 |
478 |
3.9e-86 |
PFAM |
|
Pfam:AMP-binding_C
|
486 |
561 |
6.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212781
AA Change: R49C
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212790
AA Change: R49C
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212903
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
T |
C |
4: 47,474,249 (GRCm39) |
Y13C |
probably benign |
Het |
| Apoa4 |
A |
G |
9: 46,154,218 (GRCm39) |
D273G |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,458,194 (GRCm39) |
V854I |
probably damaging |
Het |
| Bicral |
A |
G |
17: 47,122,873 (GRCm39) |
S673P |
probably benign |
Het |
| Camkk2 |
A |
G |
5: 122,902,190 (GRCm39) |
S40P |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,871,107 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,891,059 (GRCm39) |
E517G |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,569,308 (GRCm39) |
S603P |
probably damaging |
Het |
| Cdk5rap3 |
A |
T |
11: 96,804,291 (GRCm39) |
C21S |
probably damaging |
Het |
| Chml |
G |
A |
1: 175,519,900 (GRCm39) |
P68L |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,246,056 (GRCm39) |
E1476G |
probably benign |
Het |
| Cstdc6 |
A |
G |
16: 36,143,388 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,139 (GRCm39) |
V41A |
probably damaging |
Het |
| Gm4781 |
T |
A |
10: 100,232,752 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1r |
A |
T |
5: 124,137,953 (GRCm39) |
I760F |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,614 (GRCm39) |
L476P |
probably benign |
Het |
| Isyna1 |
A |
G |
8: 71,048,920 (GRCm39) |
N333S |
probably damaging |
Het |
| Kcnmb1 |
A |
T |
11: 33,920,091 (GRCm39) |
|
probably benign |
Het |
| Mark4 |
T |
C |
7: 19,160,314 (GRCm39) |
T649A |
probably benign |
Het |
| Mgat1 |
T |
C |
11: 49,152,536 (GRCm39) |
F340L |
probably benign |
Het |
| Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
| Mmaa |
T |
G |
8: 80,000,759 (GRCm39) |
Y233S |
probably damaging |
Het |
| Ntsr1 |
G |
T |
2: 180,180,627 (GRCm39) |
|
probably null |
Het |
| Or2o1 |
T |
G |
11: 49,051,602 (GRCm39) |
Y254D |
probably damaging |
Het |
| Orm2 |
T |
C |
4: 63,281,229 (GRCm39) |
Y56H |
probably damaging |
Het |
| Pex26 |
C |
T |
6: 121,170,468 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
C |
T |
9: 105,521,677 (GRCm39) |
A81V |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,548,340 (GRCm39) |
S22P |
probably benign |
Het |
| Prr14l |
G |
T |
5: 32,985,151 (GRCm39) |
T1448K |
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,254,736 (GRCm39) |
Y799* |
probably null |
Het |
| Ryr1 |
A |
C |
7: 28,778,121 (GRCm39) |
L2132R |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,421,325 (GRCm39) |
|
probably null |
Het |
| Sirt5 |
C |
T |
13: 43,533,164 (GRCm39) |
T164I |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,376,977 (GRCm39) |
V429A |
probably benign |
Het |
| Spen |
T |
C |
4: 141,244,441 (GRCm39) |
D198G |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,965,773 (GRCm39) |
N832D |
possibly damaging |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Vmn1r191 |
T |
A |
13: 22,363,068 (GRCm39) |
R229* |
probably null |
Het |
| Vps53 |
C |
T |
11: 75,939,364 (GRCm39) |
D680N |
possibly damaging |
Het |
| Wbp1l |
G |
T |
19: 46,642,749 (GRCm39) |
G234V |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,070,475 (GRCm39) |
S1098T |
probably damaging |
Het |
| Yod1 |
T |
A |
1: 130,646,688 (GRCm39) |
D188E |
probably damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,907 (GRCm39) |
D105G |
probably damaging |
Het |
|
| Other mutations in Acsf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01288:Acsf3
|
APN |
8 |
123,507,381 (GRCm39) |
splice site |
probably benign |
|
|
IGL01930:Acsf3
|
APN |
8 |
123,507,085 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02064:Acsf3
|
APN |
8 |
123,506,986 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02342:Acsf3
|
APN |
8 |
123,544,237 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0233:Acsf3
|
UTSW |
8 |
123,507,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0233:Acsf3
|
UTSW |
8 |
123,507,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Acsf3
|
UTSW |
8 |
123,506,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Acsf3
|
UTSW |
8 |
123,506,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0566:Acsf3
|
UTSW |
8 |
123,508,266 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1255:Acsf3
|
UTSW |
8 |
123,512,705 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1836:Acsf3
|
UTSW |
8 |
123,506,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1886:Acsf3
|
UTSW |
8 |
123,510,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1977:Acsf3
|
UTSW |
8 |
123,508,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2204:Acsf3
|
UTSW |
8 |
123,540,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4735:Acsf3
|
UTSW |
8 |
123,508,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Acsf3
|
UTSW |
8 |
123,506,896 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4850:Acsf3
|
UTSW |
8 |
123,544,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Acsf3
|
UTSW |
8 |
123,544,131 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5435:Acsf3
|
UTSW |
8 |
123,507,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6115:Acsf3
|
UTSW |
8 |
123,517,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Acsf3
|
UTSW |
8 |
123,508,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6283:Acsf3
|
UTSW |
8 |
123,512,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Acsf3
|
UTSW |
8 |
123,517,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Acsf3
|
UTSW |
8 |
123,517,401 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7291:Acsf3
|
UTSW |
8 |
123,540,316 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7319:Acsf3
|
UTSW |
8 |
123,539,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Acsf3
|
UTSW |
8 |
123,512,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7402:Acsf3
|
UTSW |
8 |
123,507,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7890:Acsf3
|
UTSW |
8 |
123,512,704 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7908:Acsf3
|
UTSW |
8 |
123,512,562 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Acsf3
|
UTSW |
8 |
123,540,373 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8345:Acsf3
|
UTSW |
8 |
123,508,284 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9468:Acsf3
|
UTSW |
8 |
123,539,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acsf3
|
UTSW |
8 |
123,506,703 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation