Incidental Mutation 'R2362:Acsm5'
| ID |
247183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm5
|
| Ensembl Gene |
ENSMUSG00000030972 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 5 |
| Synonyms |
C730027J19Rik |
| MMRRC Submission |
040343-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.235)
|
| Stock # |
R2362 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119125354-119142583 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 119127649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033267]
[ENSMUST00000066465]
[ENSMUST00000207307]
[ENSMUST00000207381]
[ENSMUST00000207387]
[ENSMUST00000207440]
[ENSMUST00000207796]
[ENSMUST00000207813]
|
| AlphaFold |
Q8BGA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033267
|
| SMART Domains |
Protein: ENSMUSP00000033267
Gene: ENSMUSG00000030968
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
86 |
97 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin_6
|
177 |
362 |
6e-35 |
PFAM |
|
Pfam:Thioredoxin
|
385 |
489 |
3.7e-16 |
PFAM |
|
low complexity region
|
495 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
579 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066465
|
| SMART Domains |
Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
32 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
65 |
477 |
2.9e-78 |
PFAM |
|
Pfam:AMP-binding_C
|
485 |
565 |
3.3e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207307
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207381
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207387
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207813
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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 |
|---|
| A630073D07Rik |
A |
T |
6: 132,604,442 (GRCm39) |
M1K |
probably null |
Het |
| Aadat |
A |
G |
8: 60,985,332 (GRCm39) |
|
probably benign |
Het |
| Avl9 |
A |
T |
6: 56,713,555 (GRCm39) |
N271I |
probably benign |
Het |
| Ccdc30 |
T |
A |
4: 119,181,253 (GRCm39) |
N636I |
probably damaging |
Het |
| Cdr2 |
T |
G |
7: 120,569,554 (GRCm39) |
I62L |
possibly damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,636,398 (GRCm39) |
|
noncoding transcript |
Het |
| Clk3 |
T |
C |
9: 57,661,902 (GRCm39) |
I382V |
possibly damaging |
Het |
| Ctsr |
T |
A |
13: 61,310,610 (GRCm39) |
E45V |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,463,802 (GRCm39) |
Y318C |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,878,745 (GRCm39) |
N578S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,208,755 (GRCm39) |
M817K |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,469,899 (GRCm39) |
V76A |
probably damaging |
Het |
| Eps15 |
T |
C |
4: 109,218,427 (GRCm39) |
V430A |
probably benign |
Het |
| Fhip2b |
A |
G |
14: 70,823,805 (GRCm39) |
Y568H |
probably benign |
Het |
| Fxyd5 |
T |
C |
7: 30,735,896 (GRCm39) |
N104S |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,311 (GRCm39) |
D193G |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,628,084 (GRCm39) |
E542G |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,411,393 (GRCm39) |
|
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,346,327 (GRCm39) |
Y234F |
possibly damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,872 (GRCm39) |
H55L |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,927,123 (GRCm39) |
F429S |
probably damaging |
Het |
| Polr3e |
C |
G |
7: 120,541,787 (GRCm39) |
D623E |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,585,098 (GRCm39) |
Y1494H |
probably damaging |
Het |
| Rbm14 |
T |
C |
19: 4,851,735 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,487,001 (GRCm39) |
D544G |
probably benign |
Het |
| Slc10a7 |
A |
G |
8: 79,236,261 (GRCm39) |
I20V |
probably damaging |
Het |
| Sort1 |
C |
T |
3: 108,253,981 (GRCm39) |
T549I |
possibly damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,213,754 (GRCm39) |
V328I |
probably benign |
Het |
| Thbd |
A |
G |
2: 148,248,284 (GRCm39) |
L528P |
probably damaging |
Het |
| Wbp11 |
A |
T |
6: 136,801,330 (GRCm39) |
M63K |
probably damaging |
Het |
| Wdr11 |
T |
A |
7: 129,236,560 (GRCm39) |
I1178N |
probably benign |
Het |
|
| Other mutations in Acsm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Acsm5
|
APN |
7 |
119,141,661 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01662:Acsm5
|
APN |
7 |
119,137,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02228:Acsm5
|
APN |
7 |
119,131,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02380:Acsm5
|
APN |
7 |
119,136,509 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02709:Acsm5
|
APN |
7 |
119,134,041 (GRCm39) |
nonsense |
probably null |
|
|
P4717OSA:Acsm5
|
UTSW |
7 |
119,131,195 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0506:Acsm5
|
UTSW |
7 |
119,137,319 (GRCm39) |
nonsense |
probably null |
|
|
R0518:Acsm5
|
UTSW |
7 |
119,135,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0866:Acsm5
|
UTSW |
7 |
119,140,123 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1171:Acsm5
|
UTSW |
7 |
119,140,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2511:Acsm5
|
UTSW |
7 |
119,129,677 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4670:Acsm5
|
UTSW |
7 |
119,130,983 (GRCm39) |
splice site |
probably null |
|
|
R4908:Acsm5
|
UTSW |
7 |
119,137,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Acsm5
|
UTSW |
7 |
119,133,566 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5038:Acsm5
|
UTSW |
7 |
119,134,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Acsm5
|
UTSW |
7 |
119,136,502 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6337:Acsm5
|
UTSW |
7 |
119,133,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6481:Acsm5
|
UTSW |
7 |
119,134,104 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7268:Acsm5
|
UTSW |
7 |
119,136,511 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7275:Acsm5
|
UTSW |
7 |
119,136,511 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7509:Acsm5
|
UTSW |
7 |
119,133,611 (GRCm39) |
missense |
probably benign |
|
|
R7794:Acsm5
|
UTSW |
7 |
119,137,352 (GRCm39) |
unclassified |
probably benign |
|
|
R8021:Acsm5
|
UTSW |
7 |
119,141,616 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8178:Acsm5
|
UTSW |
7 |
119,141,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8797:Acsm5
|
UTSW |
7 |
119,137,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Acsm5
|
UTSW |
7 |
119,136,434 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGACCCTGATACAGAGAG -3'
(R):5'- GATGAGCCTCACCTTTTCCAG -3'
Sequencing Primer
(F):5'- GAGGTAGGAGAGGACTTCCC -3'
(R):5'- CATCATGAGCAAAGTTGAAGTACTCG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation