Incidental Mutation 'IGL01930:Acsf3'
ID |
180417 |
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 # |
IGL01930
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
123502225-123544619 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 123507085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 126
(Y126C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015160]
[ENSMUST00000127664]
[ENSMUST00000212781]
[ENSMUST00000212790]
|
AlphaFold |
Q3URE1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000015160
AA Change: Y126C
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000015160 Gene: ENSMUSG00000015016 AA Change: Y126C
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 |
probably benign
Transcript: ENSMUST00000212781
AA Change: Y126C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212790
AA Change: Y126C
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433N12Rik |
C |
T |
9: 3,134,875 (GRCm39) |
|
noncoding transcript |
Het |
Akr1c20 |
T |
A |
13: 4,557,647 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
T |
C |
2: 120,557,063 (GRCm39) |
|
probably benign |
Het |
Cdc42bpg |
C |
T |
19: 6,361,398 (GRCm39) |
A308V |
probably damaging |
Het |
Dek |
T |
C |
13: 47,241,611 (GRCm39) |
I318V |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,940,645 (GRCm39) |
M422V |
possibly damaging |
Het |
Dync2i1 |
A |
G |
12: 116,189,583 (GRCm39) |
|
probably null |
Het |
Erbin |
G |
A |
13: 103,977,680 (GRCm39) |
L626F |
probably damaging |
Het |
Fa2h |
A |
T |
8: 112,075,936 (GRCm39) |
V229E |
possibly damaging |
Het |
Gfpt1 |
T |
A |
6: 87,036,397 (GRCm39) |
H193Q |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gpr162 |
A |
G |
6: 124,838,575 (GRCm39) |
L25P |
possibly damaging |
Het |
Hsd3b5 |
T |
C |
3: 98,529,475 (GRCm39) |
T52A |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,034,286 (GRCm39) |
V668D |
probably damaging |
Het |
Or10j2 |
T |
C |
1: 173,098,177 (GRCm39) |
V145A |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,516,751 (GRCm39) |
T1042A |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,857 (GRCm39) |
S735P |
probably damaging |
Het |
Serpina3n |
T |
A |
12: 104,375,231 (GRCm39) |
L101H |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,145,978 (GRCm39) |
D1674G |
probably damaging |
Het |
Sval3 |
A |
G |
6: 41,949,455 (GRCm39) |
N98D |
probably benign |
Het |
Tbc1d16 |
G |
A |
11: 119,046,901 (GRCm39) |
R449C |
possibly damaging |
Het |
Tm7sf3 |
A |
C |
6: 146,512,431 (GRCm39) |
I321S |
possibly damaging |
Het |
Tmem273 |
G |
A |
14: 32,538,814 (GRCm39) |
E92K |
probably benign |
Het |
Trappc13 |
A |
G |
13: 104,284,586 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Wdr76 |
A |
G |
2: 121,341,303 (GRCm39) |
D116G |
possibly damaging |
Het |
Zscan18 |
T |
C |
7: 12,509,275 (GRCm39) |
|
probably benign |
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 |
|
IGL02064:Acsf3
|
APN |
8 |
123,506,986 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL02321:Acsf3
|
APN |
8 |
123,506,853 (GRCm39) |
missense |
possibly damaging |
0.57 |
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 |
2014-05-07 |