Incidental Mutation 'R4452:Acsm4'
ID |
329010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsm4
|
Ensembl Gene |
ENSMUSG00000047026 |
Gene Name |
acyl-CoA synthetase medium-chain family member 4 |
Synonyms |
OMACS, O-MACS |
MMRRC Submission |
041713-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4452 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119289249-119313788 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 119297797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 145
(T145A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045160
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047045]
|
AlphaFold |
Q80W40 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047045
AA Change: T145A
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000045160 Gene: ENSMUSG00000047026 AA Change: T145A
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra1 |
G |
T |
7: 139,432,437 (GRCm39) |
A92S |
probably benign |
Het |
Aim2 |
A |
G |
1: 173,283,010 (GRCm39) |
T31A |
possibly damaging |
Het |
Cd46 |
G |
A |
1: 194,767,668 (GRCm39) |
A131V |
possibly damaging |
Het |
Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,704,308 (GRCm39) |
N721I |
probably damaging |
Het |
Cnn2 |
A |
G |
10: 79,827,276 (GRCm39) |
D49G |
probably benign |
Het |
Cul1 |
T |
A |
6: 47,485,923 (GRCm39) |
Y323* |
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,773,814 (GRCm39) |
W194R |
probably damaging |
Het |
Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,917,908 (GRCm39) |
A2249T |
probably damaging |
Het |
Dppa4 |
T |
A |
16: 48,109,699 (GRCm39) |
D106E |
probably benign |
Het |
Gja10 |
A |
G |
4: 32,601,313 (GRCm39) |
V357A |
probably benign |
Het |
Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
Grxcr2 |
T |
C |
18: 42,119,609 (GRCm39) |
N244D |
probably damaging |
Het |
Klk1b11 |
T |
A |
7: 43,645,335 (GRCm39) |
F3I |
probably damaging |
Het |
Mid1 |
T |
C |
X: 168,710,421 (GRCm39) |
V139A |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,393,094 (GRCm39) |
K3046E |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,562,409 (GRCm39) |
N122S |
probably damaging |
Het |
Or11j4 |
A |
T |
14: 50,630,369 (GRCm39) |
Y52F |
probably benign |
Het |
Or4c124 |
T |
A |
2: 89,155,597 (GRCm39) |
D309V |
possibly damaging |
Het |
Or52ac1 |
T |
A |
7: 104,245,846 (GRCm39) |
M181L |
probably damaging |
Het |
Or52i2 |
T |
C |
7: 102,319,256 (GRCm39) |
V43A |
probably benign |
Het |
Or8d1b |
T |
C |
9: 38,887,382 (GRCm39) |
S137P |
probably benign |
Het |
Or8h9 |
C |
T |
2: 86,789,043 (GRCm39) |
G253D |
probably damaging |
Het |
P2ry10b |
C |
T |
X: 106,214,724 (GRCm39) |
T28I |
probably damaging |
Het |
Pdxdc1 |
T |
C |
16: 13,654,990 (GRCm39) |
Y675C |
possibly damaging |
Het |
Plcl1 |
A |
G |
1: 55,736,045 (GRCm39) |
N462S |
probably benign |
Het |
Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
Pzp |
A |
G |
6: 128,468,203 (GRCm39) |
L1028P |
probably damaging |
Het |
Qrsl1 |
A |
G |
10: 43,758,158 (GRCm39) |
S312P |
probably damaging |
Het |
Sars2 |
A |
G |
7: 28,449,518 (GRCm39) |
T349A |
probably benign |
Het |
Scarb1 |
A |
T |
5: 125,377,409 (GRCm39) |
F208I |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,854,972 (GRCm39) |
N153S |
possibly damaging |
Het |
Sema4c |
A |
T |
1: 36,592,837 (GRCm39) |
V127D |
probably benign |
Het |
Smg6 |
C |
G |
11: 74,880,967 (GRCm39) |
S931C |
probably benign |
Het |
Trpm2 |
A |
T |
10: 77,759,427 (GRCm39) |
L1119Q |
probably damaging |
Het |
Ubtd2 |
T |
A |
11: 32,449,406 (GRCm39) |
N84K |
probably damaging |
Het |
Ugt2b35 |
A |
T |
5: 87,151,237 (GRCm39) |
H281L |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Acsm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01373:Acsm4
|
APN |
7 |
119,310,642 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCATCATTGTCAACCAGCTG -3'
(R):5'- AAAGTTGAGCCATCCATCCC -3'
Sequencing Primer
(F):5'- GGCCTGTCAGATTCCAAAGC -3'
(R):5'- ATCCATCCCAGTGGTGTGGAG -3'
|
Posted On |
2015-07-21 |