Incidental Mutation 'R0575:Acsm1'
ID |
56191 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsm1
|
Ensembl Gene |
ENSMUSG00000033533 |
Gene Name |
acyl-CoA synthetase medium-chain family member 1 |
Synonyms |
Macs, Bucs1 |
MMRRC Submission |
038765-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0575 (G1)
|
Quality Score |
98 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119216980-119261738 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 119258424 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120146
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047929]
[ENSMUST00000135683]
|
AlphaFold |
Q91VA0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000047929
|
SMART Domains |
Protein: ENSMUSP00000036140 Gene: ENSMUSG00000033533
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 null
Transcript: ENSMUST00000135683
|
SMART Domains |
Protein: ENSMUSP00000120146 Gene: ENSMUSG00000033533
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 |
|
Meta Mutation Damage Score |
0.8604 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
Validation Efficiency |
100% (30/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
C |
T |
14: 54,828,709 (GRCm39) |
S264N |
possibly damaging |
Het |
Adsl |
C |
T |
15: 80,847,886 (GRCm39) |
A93V |
probably damaging |
Het |
Agbl5 |
A |
T |
5: 31,051,798 (GRCm39) |
S539C |
probably damaging |
Het |
Aggf1 |
T |
A |
13: 95,504,905 (GRCm39) |
T285S |
probably benign |
Het |
Anapc11 |
A |
G |
11: 120,490,192 (GRCm39) |
D36G |
probably benign |
Het |
Ankrd44 |
G |
A |
1: 54,801,469 (GRCm39) |
A286V |
probably damaging |
Het |
Atf7ip2 |
G |
T |
16: 10,055,075 (GRCm39) |
G281C |
probably damaging |
Het |
Birc6 |
A |
G |
17: 74,996,232 (GRCm39) |
K4475E |
probably damaging |
Het |
Ccbe1 |
T |
A |
18: 66,227,066 (GRCm39) |
|
probably benign |
Het |
Cyp26b1 |
A |
G |
6: 84,552,288 (GRCm39) |
|
probably benign |
Het |
Dcun1d1 |
T |
C |
3: 35,951,934 (GRCm39) |
|
probably benign |
Het |
Dtwd2 |
C |
A |
18: 49,831,539 (GRCm39) |
C156F |
probably damaging |
Het |
Efcab6 |
T |
G |
15: 83,851,901 (GRCm39) |
I326L |
probably benign |
Het |
Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
F5 |
C |
A |
1: 164,003,813 (GRCm39) |
Q203K |
probably damaging |
Het |
Frs3 |
A |
G |
17: 48,014,648 (GRCm39) |
H447R |
possibly damaging |
Het |
Gmds |
T |
G |
13: 32,124,566 (GRCm39) |
Q264P |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,739,171 (GRCm39) |
D2503E |
probably benign |
Het |
Lgi4 |
G |
A |
7: 30,759,518 (GRCm39) |
G25R |
probably benign |
Het |
Or2y1b |
G |
A |
11: 49,208,880 (GRCm39) |
C169Y |
probably damaging |
Het |
Or5b107 |
T |
A |
19: 13,142,751 (GRCm39) |
Y124* |
probably null |
Het |
Pcdh20 |
A |
G |
14: 88,705,048 (GRCm39) |
S751P |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,614,010 (GRCm39) |
T652A |
probably benign |
Het |
Pom121l2 |
T |
G |
13: 22,168,338 (GRCm39) |
F870V |
probably damaging |
Het |
Prob1 |
T |
C |
18: 35,787,774 (GRCm39) |
D160G |
possibly damaging |
Het |
Spa17 |
T |
C |
9: 37,514,689 (GRCm39) |
K133E |
probably damaging |
Het |
Strbp |
T |
A |
2: 37,530,885 (GRCm39) |
D123V |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,936,180 (GRCm39) |
T3586A |
possibly damaging |
Het |
Zfp518a |
T |
A |
19: 40,900,759 (GRCm39) |
H229Q |
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 |
IGL03126:Acsm1
|
APN |
7 |
119,232,403 (GRCm39) |
missense |
possibly damaging |
0.74 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTATCAAGTGCCCATGCAAACCTC -3'
(R):5'- CACAGCTCCAGCCTCAGGATATTG -3'
Sequencing Primer
(F):5'- CCTCAAAGAACAAGGCGTAAG -3'
(R):5'- CCAGCCTCAGGATATTGGGTTAC -3'
|
Posted On |
2013-07-11 |