Incidental Mutation 'IGL02228:Acsm5'
| ID |
285386 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119519463-119545551 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119531866 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 169
(D169G)
|
| 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 damaging
Transcript: ENSMUST00000066465
AA Change: D169G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063416
Gene: ENSMUSG00000030972
AA Change: D169G
| 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 damaging
Transcript: ENSMUST00000207307
AA Change: D169G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207381
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207387
AA Change: D169G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207440
AA Change: D169G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207796
AA Change: D169G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207813
AA Change: D169G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,016,964 (GRCm38) |
V282A |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,988,806 (GRCm38) |
|
probably null |
Het |
| Agpat1 |
T |
C |
17: 34,610,562 (GRCm38) |
F37L |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 32,016,714 (GRCm38) |
D410E |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,246,800 (GRCm38) |
V378D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,254,885 (GRCm38) |
Y130C |
possibly damaging |
Het |
| B020004J07Rik |
T |
C |
4: 101,836,858 (GRCm38) |
Y276C |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,293,076 (GRCm38) |
H419R |
possibly damaging |
Het |
| Capza3 |
A |
G |
6: 140,041,915 (GRCm38) |
D80G |
probably benign |
Het |
| Col6a4 |
C |
T |
9: 106,068,078 (GRCm38) |
D946N |
probably benign |
Het |
| Crat |
T |
C |
2: 30,413,182 (GRCm38) |
H31R |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,043,733 (GRCm38) |
V419A |
probably damaging |
Het |
| Ebf1 |
T |
C |
11: 44,972,912 (GRCm38) |
V363A |
probably damaging |
Het |
| Gm13119 |
A |
G |
4: 144,362,661 (GRCm38) |
K183R |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 34,047,424 (GRCm38) |
F24S |
probably damaging |
Het |
| Lgmn |
G |
A |
12: 102,395,714 (GRCm38) |
T376I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,811,864 (GRCm38) |
L47F |
probably benign |
Het |
| Mier1 |
T |
A |
4: 103,131,062 (GRCm38) |
M44K |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,062,987 (GRCm38) |
Q439K |
probably benign |
Het |
| Olfr303 |
A |
C |
7: 86,395,078 (GRCm38) |
I140S |
possibly damaging |
Het |
| Pcgf6 |
A |
C |
19: 47,047,982 (GRCm38) |
F216C |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,389,474 (GRCm38) |
R1732K |
probably benign |
Het |
| Rbbp4 |
A |
T |
4: 129,317,750 (GRCm38) |
H370Q |
probably damaging |
Het |
| Reln |
A |
G |
5: 21,904,731 (GRCm38) |
V3127A |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,042,231 (GRCm38) |
V1019E |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 104,008,600 (GRCm38) |
R98Q |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,230,798 (GRCm38) |
G324V |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,459,810 (GRCm38) |
L209P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,813,734 (GRCm38) |
T1695S |
probably damaging |
Het |
| Tulp3 |
G |
A |
6: 128,334,485 (GRCm38) |
T74M |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 59,288,396 (GRCm38) |
|
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,281,686 (GRCm38) |
S23T |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,608,428 (GRCm38) |
E1509G |
possibly damaging |
Het |
| Wnk2 |
A |
T |
13: 49,056,940 (GRCm38) |
I1801N |
probably damaging |
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 |
|
IGL02380:Acsm5
|
APN |
7 |
119,537,286 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02709:Acsm5
|
APN |
7 |
119,534,818 (GRCm38) |
nonsense |
probably null |
|
|
P4717OSA:Acsm5
|
UTSW |
7 |
119,531,972 (GRCm38) |
missense |
probably benign |
0.12 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation