Incidental Mutation 'R6115:Acsf3'
| ID |
485084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsf3
|
| Ensembl Gene |
ENSMUSG00000015016 |
| Gene Name |
acyl-CoA synthetase family member 3 |
| Synonyms |
|
| MMRRC Submission |
044264-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R6115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123502225-123544619 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 123517411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 402
(H402Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015160]
[ENSMUST00000127664]
[ENSMUST00000212781]
[ENSMUST00000212790]
|
| AlphaFold |
Q3URE1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015160
AA Change: H402Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015160
Gene: ENSMUSG00000015016
AA Change: H402Q
| 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 damaging
Transcript: ENSMUST00000212781
AA Change: H402Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212790
AA Change: H402Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212903
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (51/52) |
| 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 |
|---|
| 0610040J01Rik |
C |
G |
5: 64,055,317 (GRCm39) |
Q18E |
probably damaging |
Het |
| Adam34 |
T |
G |
8: 44,105,098 (GRCm39) |
Q182H |
probably benign |
Het |
| Alx1 |
G |
A |
10: 102,864,304 (GRCm39) |
P55L |
possibly damaging |
Het |
| Arhgef38 |
A |
T |
3: 132,838,374 (GRCm39) |
|
probably null |
Het |
| Ccdc102a |
T |
C |
8: 95,629,999 (GRCm39) |
N514S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,518,072 (GRCm39) |
T317S |
probably damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,613,822 (GRCm39) |
V256A |
probably benign |
Het |
| Dhx29 |
A |
T |
13: 113,089,335 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
C |
A |
11: 69,337,475 (GRCm39) |
D3209Y |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,194 (GRCm39) |
T3919A |
probably benign |
Het |
| F7 |
T |
A |
8: 13,083,958 (GRCm39) |
N214K |
probably benign |
Het |
| Fam3b |
T |
G |
16: 97,276,568 (GRCm39) |
Q177H |
possibly damaging |
Het |
| Fign |
T |
C |
2: 63,809,654 (GRCm39) |
I539V |
probably benign |
Het |
| Hc |
T |
G |
2: 34,903,050 (GRCm39) |
D1067A |
probably damaging |
Het |
| Herc6 |
A |
G |
6: 57,560,191 (GRCm39) |
D77G |
probably benign |
Het |
| Hmg20a |
A |
T |
9: 56,397,116 (GRCm39) |
E305D |
possibly damaging |
Het |
| Il16 |
G |
A |
7: 83,301,775 (GRCm39) |
Q116* |
probably null |
Het |
| Kif13a |
T |
A |
13: 46,954,789 (GRCm39) |
I648F |
probably damaging |
Het |
| Lactb |
G |
T |
9: 66,874,969 (GRCm39) |
N374K |
possibly damaging |
Het |
| Lmx1b |
T |
C |
2: 33,459,118 (GRCm39) |
D145G |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,937 (GRCm39) |
D199G |
probably damaging |
Het |
| Lrrc49 |
A |
T |
9: 60,522,444 (GRCm39) |
V307E |
possibly damaging |
Het |
| Magi1 |
A |
C |
6: 93,685,051 (GRCm39) |
S776A |
possibly damaging |
Het |
| Mthfsl |
T |
A |
9: 88,570,807 (GRCm39) |
*147L |
probably null |
Het |
| Nsmce4a |
G |
T |
7: 130,148,722 (GRCm39) |
Q95K |
probably benign |
Het |
| Or1j15 |
A |
T |
2: 36,458,963 (GRCm39) |
M118L |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,558 (GRCm39) |
T265A |
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,494,987 (GRCm39) |
K139* |
probably null |
Het |
| Or5b24 |
T |
C |
19: 12,912,948 (GRCm39) |
V282A |
possibly damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,788 (GRCm39) |
E271G |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,596 (GRCm39) |
F551I |
possibly damaging |
Het |
| Prpf31 |
T |
C |
7: 3,642,705 (GRCm39) |
|
probably null |
Het |
| Qrfpr |
C |
T |
3: 36,236,742 (GRCm39) |
V220I |
possibly damaging |
Het |
| Rnf170 |
T |
C |
8: 26,615,994 (GRCm39) |
F95S |
possibly damaging |
Het |
| Scn9a |
T |
A |
2: 66,393,973 (GRCm39) |
Y200F |
possibly damaging |
Het |
| Sfpq |
A |
T |
4: 126,915,141 (GRCm39) |
|
probably null |
Het |
| Slc9c1 |
A |
T |
16: 45,376,132 (GRCm39) |
Y406F |
probably damaging |
Het |
| Stk32c |
G |
T |
7: 138,700,628 (GRCm39) |
Y200* |
probably null |
Het |
| Svil |
A |
G |
18: 5,108,675 (GRCm39) |
R1938G |
probably damaging |
Het |
| Sycp2 |
G |
C |
2: 177,990,038 (GRCm39) |
R1403G |
probably benign |
Het |
| Tm9sf4 |
T |
C |
2: 153,024,409 (GRCm39) |
|
probably null |
Het |
| Tmc3 |
A |
T |
7: 83,264,170 (GRCm39) |
M633L |
possibly damaging |
Het |
| Tmem163 |
T |
C |
1: 127,605,185 (GRCm39) |
D61G |
possibly damaging |
Het |
| Unc5b |
C |
A |
10: 60,613,325 (GRCm39) |
A304S |
probably benign |
Het |
| Vmn2r106 |
G |
A |
17: 20,488,638 (GRCm39) |
P587L |
probably benign |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,462 (GRCm39) |
S221T |
possibly damaging |
Het |
| Vmn2r85 |
T |
G |
10: 130,258,672 (GRCm39) |
Y461S |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,800 (GRCm39) |
F226L |
possibly damaging |
Het |
| Zbtb4 |
T |
C |
11: 69,667,148 (GRCm39) |
I151T |
probably damaging |
Het |
| Zfp110 |
A |
T |
7: 12,583,701 (GRCm39) |
Q783L |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAGCACAGTGATCTCAC -3'
(R):5'- TGGACCCTCAAAATGTCCTCC -3'
Sequencing Primer
(F):5'- GTGATCTCACAGTAACCCCATGTC -3'
(R):5'- TCCTCCAGGGACAGAGCTATG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation