Incidental Mutation 'P4717OSA:Acsm5'
| ID |
43996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm5
|
| Ensembl Gene |
ENSMUSG00000030972 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 5 |
| Synonyms |
C730027J19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
P4717OSA (G1)
of strain
634
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
7 |
| Chromosomal Location |
119519463-119545551 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119531972 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 204
(E204D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066465]
[ENSMUST00000207307]
[ENSMUST00000207381]
[ENSMUST00000207387]
[ENSMUST00000207440]
[ENSMUST00000207796]
[ENSMUST00000207813]
|
| AlphaFold |
Q8BGA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066465
AA Change: E204D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: E204D
| 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
AA Change: E204D
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207381
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207387
AA Change: E204D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207440
AA Change: E204D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207796
AA Change: E204D
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207813
AA Change: E204D
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.1036 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
100% (27/27) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930556J24Rik |
A |
T |
11: 3,938,178 (GRCm38) |
|
probably null |
Het |
| Ahi1 |
G |
C |
10: 20,972,110 (GRCm38) |
R472S |
probably damaging |
Het |
| Bbof1 |
G |
A |
12: 84,426,960 (GRCm38) |
A355T |
probably damaging |
Het |
| Capn10 |
G |
T |
1: 92,939,394 (GRCm38) |
Q115H |
probably damaging |
Het |
| Clec4n |
A |
C |
6: 123,244,540 (GRCm38) |
Q114H |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm38) |
|
probably benign |
Het |
| Depdc1a |
T |
C |
3: 159,522,547 (GRCm38) |
V312A |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,630,596 (GRCm38) |
F236L |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,766,021 (GRCm38) |
I527T |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,924,001 (GRCm38) |
L452P |
probably damaging |
Het |
| Mcoln3 |
T |
G |
3: 146,124,749 (GRCm38) |
V78G |
probably damaging |
Het |
| Mylk |
T |
A |
16: 34,977,113 (GRCm38) |
|
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,326,377 (GRCm38) |
M193L |
probably benign |
Het |
| Olig1 |
A |
T |
16: 91,269,989 (GRCm38) |
Y38F |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,523,499 (GRCm38) |
V1256A |
probably benign |
Het |
| Pkhd1l1 |
A |
T |
15: 44,528,247 (GRCm38) |
I1570F |
probably damaging |
Het |
| Prss12 |
T |
C |
3: 123,447,618 (GRCm38) |
Y154H |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,955,499 (GRCm38) |
D468G |
probably damaging |
Het |
| Relt |
G |
A |
7: 100,847,581 (GRCm38) |
R360C |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,273,727 (GRCm38) |
|
probably benign |
Het |
| Trhr |
C |
A |
15: 44,197,435 (GRCm38) |
T117K |
probably damaging |
Het |
| Ube2e2 |
A |
G |
14: 18,630,297 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Acsm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Acsm5
|
APN |
7 |
119,542,438 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01662:Acsm5
|
APN |
7 |
119,538,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02228:Acsm5
|
APN |
7 |
119,531,866 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02380:Acsm5
|
APN |
7 |
119,537,286 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02709:Acsm5
|
APN |
7 |
119,534,818 (GRCm38) |
nonsense |
probably null |
|
|
R0506:Acsm5
|
UTSW |
7 |
119,538,096 (GRCm38) |
nonsense |
probably null |
|
|
R0518:Acsm5
|
UTSW |
7 |
119,535,800 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0866:Acsm5
|
UTSW |
7 |
119,540,900 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1171:Acsm5
|
UTSW |
7 |
119,540,852 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2362:Acsm5
|
UTSW |
7 |
119,528,426 (GRCm38) |
start gained |
probably benign |
|
|
R2511:Acsm5
|
UTSW |
7 |
119,530,454 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4670:Acsm5
|
UTSW |
7 |
119,531,760 (GRCm38) |
splice site |
probably null |
|
|
R4908:Acsm5
|
UTSW |
7 |
119,538,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4913:Acsm5
|
UTSW |
7 |
119,534,343 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5038:Acsm5
|
UTSW |
7 |
119,534,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5112:Acsm5
|
UTSW |
7 |
119,537,279 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6337:Acsm5
|
UTSW |
7 |
119,534,235 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6481:Acsm5
|
UTSW |
7 |
119,534,881 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7268:Acsm5
|
UTSW |
7 |
119,537,288 (GRCm38) |
missense |
probably benign |
0.38 |
|
R7275:Acsm5
|
UTSW |
7 |
119,537,288 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7509:Acsm5
|
UTSW |
7 |
119,534,388 (GRCm38) |
missense |
probably benign |
|
|
R7794:Acsm5
|
UTSW |
7 |
119,538,129 (GRCm38) |
unclassified |
probably benign |
|
|
R8021:Acsm5
|
UTSW |
7 |
119,542,393 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R8178:Acsm5
|
UTSW |
7 |
119,542,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8797:Acsm5
|
UTSW |
7 |
119,538,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Acsm5
|
UTSW |
7 |
119,537,211 (GRCm38) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAGCGAAGGATCTCAAGTATCGG -3'
(R):5'- TGAGCACCAAAGGCAATGCCAG -3'
Sequencing Primer
(F):5'- CCAAGTCTATCGTCACCAGTGAT -3'
(R):5'- CCACTGTGTTAGAGGACACTG -3'
|
| Posted On |
2013-05-31 |
Incidental Mutation