Incidental Mutation 'R4076:Acsm4'
| ID |
316564 |
| 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 |
040975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119289249-119313788 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119297981 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 206
(L206H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047045]
|
| AlphaFold |
Q80W40 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047045
AA Change: L206H
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045160
Gene: ENSMUSG00000047026
AA Change: L206H
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,504,529 (GRCm39) |
I277V |
probably benign |
Het |
| Atg12 |
A |
G |
18: 46,870,491 (GRCm39) |
F92L |
probably benign |
Het |
| Cd48 |
T |
A |
1: 171,523,451 (GRCm39) |
V98D |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,009,413 (GRCm39) |
M2083T |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
| Dnali1 |
T |
C |
4: 124,953,263 (GRCm39) |
D188G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
| Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
| Fras1 |
G |
C |
5: 96,891,017 (GRCm39) |
D2849H |
probably damaging |
Het |
| Hdc |
C |
T |
2: 126,458,181 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Ighv1-30 |
C |
T |
12: 114,781,021 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
| Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
| Ltb4r2 |
A |
T |
14: 56,000,398 (GRCm39) |
R340W |
probably benign |
Het |
| Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
| Nars2 |
T |
A |
7: 96,607,301 (GRCm39) |
S91T |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
| Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
| Osgin1 |
A |
C |
8: 120,171,772 (GRCm39) |
S189R |
possibly damaging |
Het |
| Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,798,589 (GRCm39) |
N373I |
probably damaging |
Het |
| Pou2f2 |
T |
C |
7: 24,796,713 (GRCm39) |
T270A |
probably damaging |
Het |
| Rad51b |
T |
G |
12: 79,361,656 (GRCm39) |
S122R |
probably damaging |
Het |
| Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
| Rrbp1 |
T |
G |
2: 143,805,030 (GRCm39) |
Q1045P |
probably benign |
Het |
| Scg2 |
A |
C |
1: 79,414,574 (GRCm39) |
F50V |
probably damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
| Tfb1m |
T |
A |
17: 3,571,945 (GRCm39) |
R257W |
probably damaging |
Het |
| Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
| Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
| Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,031,180 (GRCm39) |
V920E |
probably damaging |
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 |
|
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'- GGAACGATCCAACTGACCAG -3'
(R):5'- CACTCATCATAGGCCACAGAGG -3'
Sequencing Primer
(F):5'- GAAAAGACATCCTCTACCGGCTG -3'
(R):5'- CAGAGGACATATGTTCAATCCCTGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation