Incidental Mutation 'R1220:Acsm1'
| ID |
100004 |
| 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 |
039289-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1220 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119216980-119261738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119257537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 407
(S407R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047929]
[ENSMUST00000135683]
|
| AlphaFold |
Q91VA0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047929
AA Change: S434R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036140
Gene: ENSMUSG00000033533
AA Change: S434R
| 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: ENSMUST00000135683
AA Change: S407R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120146
Gene: ENSMUSG00000033533
AA Change: S407R
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.2%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,063,982 (GRCm39) |
M94L |
possibly damaging |
Het |
| Anks6 |
A |
T |
4: 47,025,767 (GRCm39) |
|
probably benign |
Het |
| Atxn1 |
A |
G |
13: 45,710,899 (GRCm39) |
S678P |
probably benign |
Het |
| Ccnc |
A |
G |
4: 21,732,491 (GRCm39) |
Y76C |
probably damaging |
Het |
| Col1a1 |
G |
T |
11: 94,841,957 (GRCm39) |
A1335S |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,182,574 (GRCm39) |
|
probably benign |
Het |
| Commd10 |
C |
A |
18: 47,220,107 (GRCm39) |
Q195K |
probably damaging |
Het |
| Cps1 |
G |
A |
1: 67,243,862 (GRCm39) |
|
probably null |
Het |
| Cramp1 |
A |
T |
17: 25,201,211 (GRCm39) |
V757D |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,017,699 (GRCm39) |
T13A |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
| Eif4enif1 |
A |
G |
11: 3,189,493 (GRCm39) |
|
probably benign |
Het |
| Exoc3l2 |
T |
A |
7: 19,225,709 (GRCm39) |
|
probably benign |
Het |
| Fam118b |
T |
C |
9: 35,134,969 (GRCm39) |
S213G |
possibly damaging |
Het |
| Katnal1 |
G |
A |
5: 148,831,061 (GRCm39) |
A171V |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,832,945 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq1 |
G |
A |
10: 102,906,990 (GRCm39) |
R1577W |
probably benign |
Het |
| Or1e26 |
A |
C |
11: 73,480,203 (GRCm39) |
Y120* |
probably null |
Het |
| Or5p70 |
T |
A |
7: 107,994,539 (GRCm39) |
S71T |
probably benign |
Het |
| Pmel |
A |
G |
10: 128,549,929 (GRCm39) |
D30G |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,293 (GRCm39) |
Y505C |
probably damaging |
Het |
| Prpf40b |
C |
T |
15: 99,214,229 (GRCm39) |
R830C |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,566,479 (GRCm39) |
D106E |
probably damaging |
Het |
| Rad18 |
C |
A |
6: 112,626,625 (GRCm39) |
E141* |
probably null |
Het |
| Ros1 |
C |
T |
10: 51,974,966 (GRCm39) |
V1540M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,810,941 (GRCm39) |
R201H |
probably damaging |
Het |
| Shisa6 |
A |
G |
11: 66,110,836 (GRCm39) |
S302P |
probably damaging |
Het |
| Slamf9 |
C |
A |
1: 172,304,898 (GRCm39) |
Q171K |
probably benign |
Het |
| Sox6 |
T |
A |
7: 115,261,677 (GRCm39) |
T180S |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,553,998 (GRCm39) |
S30902G |
possibly damaging |
Het |
| Xirp1 |
A |
G |
9: 119,846,982 (GRCm39) |
F634L |
possibly damaging |
Het |
| Yrdc |
T |
A |
4: 124,748,329 (GRCm39) |
S278T |
possibly 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 |
|
R0575:Acsm1
|
UTSW |
7 |
119,258,424 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AGCTGAATGGTGCTCACAGATGG -3'
(R):5'- ATTTAGGCTCTCACACATGGATGGC -3'
Sequencing Primer
(F):5'- TGCTCACAGATGGAGCTGC -3'
(R):5'- ccttgaaatcactctgttgcc -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation