Incidental Mutation 'IGL02064:Acsf3'
| ID |
283312 |
| 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: 0.256)
|
| Stock # |
IGL02064
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
123502225-123544619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 123506986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 93
(L93P)
|
| 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: L93P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: L93P
| 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: L93P
PolyPhen 2
Score 0.743 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212790
AA Change: L93P
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,784,463 (GRCm39) |
L312P |
probably damaging |
Het |
| Acap2 |
A |
C |
16: 30,946,146 (GRCm39) |
W284G |
probably damaging |
Het |
| Agbl2 |
G |
T |
2: 90,614,368 (GRCm39) |
|
probably benign |
Het |
| Arap3 |
C |
T |
18: 38,124,754 (GRCm39) |
G242D |
probably damaging |
Het |
| Asxl3 |
G |
A |
18: 22,657,401 (GRCm39) |
V1804I |
possibly damaging |
Het |
| Bnc1 |
C |
A |
7: 81,623,251 (GRCm39) |
V659L |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Car9 |
A |
G |
4: 43,507,363 (GRCm39) |
E103G |
probably benign |
Het |
| Chrm4 |
A |
G |
2: 91,758,176 (GRCm39) |
T195A |
probably damaging |
Het |
| Cldn10 |
T |
C |
14: 119,092,424 (GRCm39) |
I8T |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,599,654 (GRCm39) |
S833F |
probably benign |
Het |
| Cryba2 |
T |
A |
1: 74,929,720 (GRCm39) |
D139V |
possibly damaging |
Het |
| Emp1 |
T |
A |
6: 135,354,210 (GRCm39) |
M1K |
probably null |
Het |
| Entrep3 |
C |
T |
3: 89,095,903 (GRCm39) |
R545* |
probably null |
Het |
| Exosc4 |
C |
A |
15: 76,213,836 (GRCm39) |
A220E |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,282,112 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
C |
T |
6: 64,040,919 (GRCm39) |
T287I |
probably benign |
Het |
| Grifin |
C |
T |
5: 140,550,494 (GRCm39) |
A7T |
probably damaging |
Het |
| Gzmg |
T |
C |
14: 56,394,798 (GRCm39) |
K157E |
probably benign |
Het |
| Kcnq2 |
A |
T |
2: 180,750,819 (GRCm39) |
I340N |
probably damaging |
Het |
| Klrb1 |
T |
A |
6: 128,687,600 (GRCm39) |
H98L |
probably benign |
Het |
| Krt90 |
T |
C |
15: 101,471,088 (GRCm39) |
H58R |
possibly damaging |
Het |
| Krtap5-2 |
C |
A |
7: 141,729,468 (GRCm39) |
G71C |
unknown |
Het |
| Krtap7-1 |
A |
T |
16: 89,305,011 (GRCm39) |
M47K |
probably benign |
Het |
| Lmntd1 |
T |
A |
6: 145,373,002 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
A |
G |
15: 75,093,505 (GRCm39) |
|
probably benign |
Het |
| Musk |
A |
G |
4: 58,286,128 (GRCm39) |
N6S |
possibly damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,298 (GRCm39) |
C112R |
probably damaging |
Het |
| Or51a39 |
A |
G |
7: 102,362,808 (GRCm39) |
F271L |
probably damaging |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,776,241 (GRCm39) |
F89Y |
possibly damaging |
Het |
| Or5p58 |
T |
G |
7: 107,694,454 (GRCm39) |
T108P |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,874 (GRCm39) |
I122N |
probably damaging |
Het |
| Pcdh19 |
A |
G |
X: 132,586,719 (GRCm39) |
M432T |
probably benign |
Het |
| Prdm1 |
A |
G |
10: 44,317,338 (GRCm39) |
F495S |
probably damaging |
Het |
| Prkar2a |
T |
C |
9: 108,610,403 (GRCm39) |
Y211H |
possibly damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,754,862 (GRCm39) |
G1143V |
probably damaging |
Het |
| Rbbp7 |
A |
G |
X: 161,552,783 (GRCm39) |
|
probably null |
Het |
| Scel |
C |
A |
14: 103,770,762 (GRCm39) |
H65Q |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,137,463 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
C |
A |
5: 129,637,860 (GRCm39) |
T839N |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,699,911 (GRCm39) |
I636V |
possibly damaging |
Het |
| Slc15a1 |
G |
T |
14: 121,699,886 (GRCm39) |
P644H |
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,935,883 (GRCm39) |
I38N |
possibly damaging |
Het |
| Sucla2 |
C |
T |
14: 73,816,913 (GRCm39) |
Q218* |
probably null |
Het |
| Tbc1d14 |
A |
T |
5: 36,665,019 (GRCm39) |
L237* |
probably null |
Het |
| Trpm7 |
C |
T |
2: 126,639,863 (GRCm39) |
E1578K |
probably damaging |
Het |
| Ttc17 |
G |
A |
2: 94,161,012 (GRCm39) |
T896I |
probably damaging |
Het |
| Virma |
A |
G |
4: 11,513,163 (GRCm39) |
D339G |
possibly damaging |
Het |
| Vmn2r54 |
T |
A |
7: 12,349,533 (GRCm39) |
Y683F |
probably benign |
Het |
| Xrra1 |
T |
A |
7: 99,563,411 (GRCm39) |
L466Q |
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 |
|
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 |
2015-04-16 |
Incidental Mutation