Incidental Mutation 'R0866:Acsm5'
| ID |
82349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm5
|
| Ensembl Gene |
ENSMUSG00000030972 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 5 |
| Synonyms |
C730027J19Rik |
| MMRRC Submission |
039040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R0866 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119125354-119142583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119140123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 508
(I508N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066465]
[ENSMUST00000207307]
[ENSMUST00000207381]
[ENSMUST00000207440]
[ENSMUST00000207796]
|
| AlphaFold |
Q8BGA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066465
AA Change: I508N
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: I508N
| 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 |
possibly damaging
Transcript: ENSMUST00000207440
AA Change: I508N
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207796
AA Change: I508N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.2496 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.5%
- 20x: 91.7%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
G |
T |
6: 131,529,742 (GRCm39) |
R112L |
unknown |
Het |
| Abcd4 |
G |
T |
12: 84,658,507 (GRCm39) |
A232E |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,132,156 (GRCm39) |
Q263R |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,879,451 (GRCm39) |
L1890P |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,363,384 (GRCm39) |
D560N |
probably damaging |
Het |
| Crb3 |
T |
A |
17: 57,369,743 (GRCm39) |
L17Q |
probably damaging |
Het |
| Fbxo21 |
G |
T |
5: 118,115,098 (GRCm39) |
R78L |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,599,229 (GRCm39) |
C669S |
probably damaging |
Het |
| Gria2 |
A |
T |
3: 80,629,331 (GRCm39) |
|
probably benign |
Het |
| H2-M11 |
T |
C |
17: 36,859,829 (GRCm39) |
L274P |
probably benign |
Het |
| Hmox1 |
A |
G |
8: 75,823,931 (GRCm39) |
T200A |
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,713,920 (GRCm39) |
|
probably null |
Het |
| Isy1 |
C |
A |
6: 87,796,094 (GRCm39) |
R281L |
probably benign |
Het |
| Kiz |
C |
A |
2: 146,697,973 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,371,591 (GRCm39) |
K704R |
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,375,147 (GRCm39) |
D4484E |
probably damaging |
Het |
| Lrrc7 |
C |
A |
3: 157,869,903 (GRCm39) |
|
probably benign |
Het |
| Mtmr14 |
T |
C |
6: 113,216,543 (GRCm39) |
|
probably null |
Het |
| Mtmr3 |
A |
T |
11: 4,438,474 (GRCm39) |
V660E |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,570,513 (GRCm39) |
I1190T |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,376 (GRCm39) |
R318G |
probably damaging |
Het |
| Myh7 |
T |
C |
14: 55,210,596 (GRCm39) |
T1739A |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or5h18 |
C |
T |
16: 58,847,791 (GRCm39) |
V160I |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,126,957 (GRCm39) |
E722G |
possibly damaging |
Het |
| Pds5b |
T |
A |
5: 150,662,656 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
T |
2: 146,277,923 (GRCm39) |
F413I |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,392,628 (GRCm39) |
Y24C |
probably damaging |
Het |
| Rgs2 |
A |
G |
1: 143,877,988 (GRCm39) |
S103P |
probably damaging |
Het |
| Rtn1 |
G |
T |
12: 72,355,156 (GRCm39) |
Y263* |
probably null |
Het |
| Slc22a1 |
T |
C |
17: 12,875,933 (GRCm39) |
E427G |
probably benign |
Het |
| Speg |
A |
G |
1: 75,393,727 (GRCm39) |
T1695A |
probably damaging |
Het |
| Tlx3 |
C |
A |
11: 33,153,315 (GRCm39) |
G49W |
probably damaging |
Het |
| Tor1b |
A |
G |
2: 30,846,928 (GRCm39) |
M292V |
probably benign |
Het |
| Tspyl3 |
A |
T |
2: 153,066,854 (GRCm39) |
L128Q |
probably damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfc3h1 |
G |
A |
10: 115,263,621 (GRCm39) |
V1821I |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,477,272 (GRCm39) |
T3271S |
possibly damaging |
Het |
| Zfp386 |
G |
T |
12: 116,018,329 (GRCm39) |
|
probably benign |
Het |
| Zfp574 |
A |
T |
7: 24,779,323 (GRCm39) |
K115M |
probably damaging |
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 |
|
R1171:Acsm5
|
UTSW |
7 |
119,140,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2362:Acsm5
|
UTSW |
7 |
119,127,649 (GRCm39) |
start gained |
probably benign |
|
|
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'- GCACATATGGACGAGGATGGCTAC -3'
(R):5'- AAGGCCACTTGGTTGCAGGTCTAC -3'
Sequencing Primer
(F):5'- ATCAACTCTTCAAGGTCAGGGTAG -3'
(R):5'- tgagcacctattatgtaccagtc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation