Incidental Mutation 'R4029:Acsm4'
| ID |
313128 |
| 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 |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4029 (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 119293008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 46
(K46R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047045]
|
| AlphaFold |
Q80W40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047045
AA Change: K46R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: K46R
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Nup35 |
A |
G |
2: 80,483,318 (GRCm39) |
D172G |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAATCCACTCCCAGTCTTCAG -3'
(R):5'- TGAAGCCATCCAGGTTCCTG -3'
Sequencing Primer
(F):5'- ACAGGCATTTCCCACTTGC -3'
(R):5'- AGGTTCCTGCCCTCACTGAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation