Incidental Mutation 'IGL01373:Acsm4'
ID |
84084 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acsm4
|
Ensembl Gene |
ENSMUSG00000047026 |
Gene Name |
acyl-CoA synthetase medium-chain family member 4 |
Synonyms |
OMACS, O-MACS |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
IGL01373
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119289249-119313788 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 119310642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 510
(R510*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045160
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033236]
[ENSMUST00000047045]
|
AlphaFold |
Q80W40 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033236
|
SMART Domains |
Protein: ENSMUSP00000033236 Gene: ENSMUSG00000030942
Domain | Start | End | E-Value | Type |
THUMP
|
161 |
254 |
4.5e-13 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000047045
AA Change: R510*
|
SMART Domains |
Protein: ENSMUSP00000045160 Gene: ENSMUSG00000047026 AA Change: R510*
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
64 |
478 |
5.8e-83 |
PFAM |
Pfam:AMP-binding_C
|
486 |
566 |
1.4e-22 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
T |
15: 11,310,816 (GRCm39) |
E1024D |
probably benign |
Het |
Aff2 |
T |
A |
X: 68,911,335 (GRCm39) |
D1239E |
possibly damaging |
Het |
Agps |
T |
C |
2: 75,683,128 (GRCm39) |
V151A |
probably benign |
Het |
Cables1 |
A |
T |
18: 12,021,821 (GRCm39) |
R276S |
probably damaging |
Het |
Cep72 |
A |
G |
13: 74,207,578 (GRCm39) |
S64P |
probably damaging |
Het |
Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
Cpxm1 |
T |
C |
2: 130,236,055 (GRCm39) |
E369G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,051,731 (GRCm39) |
L3021P |
probably benign |
Het |
Esyt1 |
T |
C |
10: 128,354,810 (GRCm39) |
E530G |
possibly damaging |
Het |
Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,452,701 (GRCm39) |
G98D |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,395,350 (GRCm39) |
I361V |
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,847,284 (GRCm39) |
H41L |
possibly damaging |
Het |
Kcnq4 |
A |
G |
4: 120,574,229 (GRCm39) |
V143A |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,862 (GRCm39) |
V42A |
probably damaging |
Het |
Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
Lpin3 |
G |
T |
2: 160,745,649 (GRCm39) |
D651Y |
probably damaging |
Het |
Ms4a6b |
A |
T |
19: 11,506,871 (GRCm39) |
H220L |
possibly damaging |
Het |
Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
Nxnl2 |
T |
C |
13: 51,325,488 (GRCm39) |
F44L |
probably damaging |
Het |
Or11g2 |
T |
A |
14: 50,856,069 (GRCm39) |
I130N |
probably damaging |
Het |
Or2ag16 |
T |
C |
7: 106,351,653 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
A |
T |
18: 37,639,621 (GRCm39) |
R716W |
probably benign |
Het |
Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
Plekhf1 |
T |
C |
7: 37,921,221 (GRCm39) |
T116A |
probably benign |
Het |
Psmb2 |
G |
T |
4: 126,580,885 (GRCm39) |
R93L |
probably damaging |
Het |
Pstpip2 |
T |
A |
18: 77,922,916 (GRCm39) |
L42* |
probably null |
Het |
Ptpn22 |
A |
T |
3: 103,793,520 (GRCm39) |
D557V |
probably damaging |
Het |
Rbbp5 |
G |
A |
1: 132,420,339 (GRCm39) |
V191I |
probably benign |
Het |
Rgs1 |
T |
A |
1: 144,121,116 (GRCm39) |
D185V |
probably damaging |
Het |
Selenoh |
A |
G |
2: 84,500,938 (GRCm39) |
|
probably benign |
Het |
Slc6a5 |
C |
T |
7: 49,567,481 (GRCm39) |
P312S |
probably benign |
Het |
Snapc1 |
T |
A |
12: 74,011,454 (GRCm39) |
M40K |
probably benign |
Het |
Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
Syne2 |
T |
C |
12: 76,033,881 (GRCm39) |
I3710T |
probably damaging |
Het |
Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
Tex9 |
A |
T |
9: 72,388,036 (GRCm39) |
D134E |
possibly damaging |
Het |
Ttc41 |
G |
T |
10: 86,611,821 (GRCm39) |
C1063F |
possibly damaging |
Het |
Usp38 |
C |
A |
8: 81,716,647 (GRCm39) |
A496S |
possibly damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,568 (GRCm39) |
Y621F |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
probably benign |
Het |
|
Other mutations in Acsm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01676:Acsm4
|
APN |
7 |
119,307,866 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01801:Acsm4
|
APN |
7 |
119,306,486 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02183:Acsm4
|
APN |
7 |
119,293,075 (GRCm39) |
splice site |
probably null |
|
IGL02220:Acsm4
|
APN |
7 |
119,310,395 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02637:Acsm4
|
APN |
7 |
119,309,907 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03290:Acsm4
|
APN |
7 |
119,302,646 (GRCm39) |
splice site |
probably benign |
|
I0000:Acsm4
|
UTSW |
7 |
119,310,415 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4382001:Acsm4
|
UTSW |
7 |
119,297,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Acsm4
|
UTSW |
7 |
119,307,933 (GRCm39) |
missense |
probably benign |
0.00 |
R1386:Acsm4
|
UTSW |
7 |
119,297,801 (GRCm39) |
missense |
probably benign |
|
R1433:Acsm4
|
UTSW |
7 |
119,293,042 (GRCm39) |
missense |
probably damaging |
0.99 |
R1961:Acsm4
|
UTSW |
7 |
119,307,963 (GRCm39) |
missense |
probably benign |
0.04 |
R3957:Acsm4
|
UTSW |
7 |
119,302,588 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4029:Acsm4
|
UTSW |
7 |
119,293,008 (GRCm39) |
missense |
probably benign |
|
R4072:Acsm4
|
UTSW |
7 |
119,297,981 (GRCm39) |
missense |
probably benign |
0.14 |
R4075:Acsm4
|
UTSW |
7 |
119,297,981 (GRCm39) |
missense |
probably benign |
0.14 |
R4076:Acsm4
|
UTSW |
7 |
119,297,981 (GRCm39) |
missense |
probably benign |
0.14 |
R4432:Acsm4
|
UTSW |
7 |
119,310,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R4452:Acsm4
|
UTSW |
7 |
119,297,797 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4757:Acsm4
|
UTSW |
7 |
119,297,900 (GRCm39) |
missense |
probably benign |
|
R4992:Acsm4
|
UTSW |
7 |
119,310,640 (GRCm39) |
missense |
probably benign |
0.43 |
R5046:Acsm4
|
UTSW |
7 |
119,302,597 (GRCm39) |
missense |
probably damaging |
0.99 |
R5473:Acsm4
|
UTSW |
7 |
119,312,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R5662:Acsm4
|
UTSW |
7 |
119,294,023 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5780:Acsm4
|
UTSW |
7 |
119,293,068 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6957:Acsm4
|
UTSW |
7 |
119,310,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R7579:Acsm4
|
UTSW |
7 |
119,292,933 (GRCm39) |
missense |
probably benign |
0.01 |
R7892:Acsm4
|
UTSW |
7 |
119,293,889 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8716:Acsm4
|
UTSW |
7 |
119,307,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R8738:Acsm4
|
UTSW |
7 |
119,304,264 (GRCm39) |
missense |
probably benign |
0.00 |
R9616:Acsm4
|
UTSW |
7 |
119,293,872 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Acsm4
|
UTSW |
7 |
119,310,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |