Incidental Mutation 'IGL03126:Acsm1'
| ID |
410147 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Acsm1
|
| Ensembl Gene |
ENSMUSG00000033533 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 1 |
| Synonyms |
Macs, Bucs1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03126
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119216980-119261738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119232403 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 100
(Q100L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047929]
[ENSMUST00000126367]
[ENSMUST00000135683]
|
| AlphaFold |
Q91VA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047929
AA Change: Q100L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: Q100L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
58 |
471 |
8.1e-70 |
PFAM |
|
Pfam:AMP-binding_C
|
479 |
559 |
1.7e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126367
AA Change: Q100L
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114725
Gene: ENSMUSG00000033533
AA Change: Q100L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
58 |
174 |
4.3e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135683
AA Change: Q100L
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: Q100L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
58 |
371 |
6.8e-51 |
PFAM |
|
Pfam:AMP-binding
|
368 |
444 |
9e-15 |
PFAM |
|
Pfam:AMP-binding_C
|
452 |
531 |
5.4e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207364
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208167
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208211
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,617,563 (GRCm39) |
N562S |
probably benign |
Het |
| Abi1 |
A |
G |
2: 22,843,479 (GRCm39) |
V316A |
probably benign |
Het |
| Akr1c21 |
T |
C |
13: 4,627,457 (GRCm39) |
Y184H |
possibly damaging |
Het |
| Anks3 |
T |
C |
16: 4,775,891 (GRCm39) |
T104A |
probably damaging |
Het |
| Bcl2l2 |
A |
G |
14: 55,122,224 (GRCm39) |
Y129C |
probably damaging |
Het |
| Cenpf |
T |
A |
1: 189,391,207 (GRCm39) |
K875I |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,067,127 (GRCm39) |
V15A |
probably benign |
Het |
| Dnaaf9 |
A |
T |
2: 130,633,915 (GRCm39) |
|
probably null |
Het |
| Elmo3 |
C |
A |
8: 106,033,013 (GRCm39) |
R66S |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,779,717 (GRCm39) |
S565P |
probably benign |
Het |
| Epn1 |
C |
A |
7: 5,098,684 (GRCm39) |
A370E |
probably benign |
Het |
| Esrrg |
T |
C |
1: 187,730,184 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
T |
G |
6: 92,042,145 (GRCm39) |
L1034R |
probably damaging |
Het |
| Fpgs |
A |
G |
2: 32,573,135 (GRCm39) |
V567A |
possibly damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| H3c3 |
T |
C |
13: 23,929,425 (GRCm39) |
K19R |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,205,503 (GRCm39) |
F38S |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,703 (GRCm39) |
V712A |
possibly damaging |
Het |
| Mep1b |
T |
C |
18: 21,221,617 (GRCm39) |
F189S |
probably damaging |
Het |
| Mill1 |
T |
C |
7: 17,989,832 (GRCm39) |
V38A |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,766,398 (GRCm39) |
R13W |
possibly damaging |
Het |
| Npy4r |
T |
C |
14: 33,868,290 (GRCm39) |
I333V |
probably benign |
Het |
| Numa1 |
G |
T |
7: 101,649,874 (GRCm39) |
E1202* |
probably null |
Het |
| Or3a1b |
C |
T |
11: 74,012,610 (GRCm39) |
A165V |
probably benign |
Het |
| Or6k6 |
A |
G |
1: 173,945,276 (GRCm39) |
I102T |
probably benign |
Het |
| Oxr1 |
A |
T |
15: 41,683,645 (GRCm39) |
Q356L |
possibly damaging |
Het |
| Prdx2 |
T |
C |
8: 85,698,198 (GRCm39) |
F130L |
probably damaging |
Het |
| Rasa1 |
A |
T |
13: 85,404,515 (GRCm39) |
S248R |
possibly damaging |
Het |
| Rgs19 |
A |
G |
2: 181,333,114 (GRCm39) |
S49P |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,495,075 (GRCm39) |
|
probably benign |
Het |
| Serpinb11 |
T |
C |
1: 107,307,654 (GRCm39) |
F362L |
probably damaging |
Het |
| Slamf8 |
T |
C |
1: 172,411,736 (GRCm39) |
H253R |
possibly damaging |
Het |
| Tet3 |
C |
A |
6: 83,353,769 (GRCm39) |
R829L |
probably damaging |
Het |
| Trappc8 |
A |
G |
18: 20,996,652 (GRCm39) |
L420P |
probably damaging |
Het |
| Ube2u |
A |
T |
4: 100,407,199 (GRCm39) |
*353Y |
probably null |
Het |
| Wbp1l |
A |
C |
19: 46,632,838 (GRCm39) |
D46A |
probably damaging |
Het |
| Zbtb21 |
A |
G |
16: 97,752,945 (GRCm39) |
V474A |
probably damaging |
Het |
|
| Other mutations in Acsm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00775:Acsm1
|
APN |
7 |
119,257,524 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02121:Acsm1
|
APN |
7 |
119,257,635 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02480:Acsm1
|
APN |
7 |
119,255,265 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02806:Acsm1
|
APN |
7 |
119,235,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
wallball
|
UTSW |
7 |
119,239,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0025:Acsm1
|
UTSW |
7 |
119,257,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0025:Acsm1
|
UTSW |
7 |
119,257,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Acsm1
|
UTSW |
7 |
119,261,412 (GRCm39) |
splice site |
probably benign |
|
|
R0396:Acsm1
|
UTSW |
7 |
119,235,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0491:Acsm1
|
UTSW |
7 |
119,239,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0575:Acsm1
|
UTSW |
7 |
119,258,424 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1220:Acsm1
|
UTSW |
7 |
119,257,537 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1366:Acsm1
|
UTSW |
7 |
119,257,511 (GRCm39) |
splice site |
probably benign |
|
|
R1624:Acsm1
|
UTSW |
7 |
119,251,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Acsm1
|
UTSW |
7 |
119,255,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2937:Acsm1
|
UTSW |
7 |
119,258,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Acsm1
|
UTSW |
7 |
119,239,917 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4814:Acsm1
|
UTSW |
7 |
119,254,687 (GRCm39) |
missense |
probably benign |
|
|
R5153:Acsm1
|
UTSW |
7 |
119,239,950 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5329:Acsm1
|
UTSW |
7 |
119,255,274 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5471:Acsm1
|
UTSW |
7 |
119,259,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Acsm1
|
UTSW |
7 |
119,239,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Acsm1
|
UTSW |
7 |
119,232,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6406:Acsm1
|
UTSW |
7 |
119,261,484 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7068:Acsm1
|
UTSW |
7 |
119,221,803 (GRCm39) |
missense |
probably benign |
|
|
R7311:Acsm1
|
UTSW |
7 |
119,237,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Acsm1
|
UTSW |
7 |
119,237,319 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8486:Acsm1
|
UTSW |
7 |
119,259,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8785:Acsm1
|
UTSW |
7 |
119,261,453 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8938:Acsm1
|
UTSW |
7 |
119,258,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Acsm1
|
UTSW |
7 |
119,239,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9008:Acsm1
|
UTSW |
7 |
119,258,325 (GRCm39) |
missense |
probably benign |
0.34 |
|
Z1177:Acsm1
|
UTSW |
7 |
119,261,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation