Incidental Mutation 'I0000:Acsm4'
ID |
7846 |
Institutional Source |
Beutler Lab
|
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 # |
I0000 (G3)
of strain
635
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119289249-119313788 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 119310415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 467
(F467I)
|
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 damaging
Transcript: ENSMUST00000047045
AA Change: F467I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045160 Gene: ENSMUSG00000047026 AA Change: F467I
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 |
0.6467 |
Coding Region Coverage |
|
Validation Efficiency |
67% (62/92) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
C |
5: 114,376,716 (GRCm39) |
V1933A |
probably damaging |
Het |
Ankrd55 |
A |
T |
13: 112,485,259 (GRCm39) |
|
probably benign |
Het |
Bfsp1 |
T |
C |
2: 143,687,888 (GRCm39) |
Y179C |
probably damaging |
Het |
Ccdc61 |
A |
G |
7: 18,637,474 (GRCm39) |
I51T |
probably damaging |
Het |
Ccdc81 |
A |
G |
7: 89,547,259 (GRCm39) |
L43P |
probably damaging |
Het |
Ddias |
A |
G |
7: 92,515,848 (GRCm39) |
V15A |
possibly damaging |
Het |
Dpp6 |
A |
T |
5: 27,603,920 (GRCm39) |
T62S |
probably benign |
Het |
Ereg |
G |
A |
5: 91,237,068 (GRCm39) |
C129Y |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,888,688 (GRCm39) |
G2745S |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,528,540 (GRCm39) |
|
probably benign |
Het |
Herc2 |
T |
A |
7: 55,786,477 (GRCm39) |
|
probably benign |
Het |
Hsd17b4 |
A |
G |
18: 50,293,295 (GRCm39) |
D278G |
probably benign |
Homo |
Ifitm3 |
A |
G |
7: 140,590,441 (GRCm39) |
S40P |
possibly damaging |
Het |
Klf5 |
C |
T |
14: 99,540,911 (GRCm39) |
T307M |
probably damaging |
Homo |
Lnpep |
A |
T |
17: 17,799,233 (GRCm39) |
C141S |
probably damaging |
Homo |
Mmp19 |
A |
T |
10: 128,634,329 (GRCm39) |
D362V |
probably benign |
Het |
Or4a72 |
T |
C |
2: 89,405,497 (GRCm39) |
Y191C |
probably damaging |
Het |
Pnpla6 |
G |
A |
8: 3,592,322 (GRCm39) |
A1222T |
probably benign |
Het |
Rbm26 |
C |
A |
14: 105,391,003 (GRCm39) |
R161L |
unknown |
Homo |
Selenon |
G |
A |
4: 134,270,012 (GRCm39) |
|
probably benign |
Het |
Septin11 |
A |
G |
5: 93,313,118 (GRCm39) |
T322A |
probably benign |
Het |
Sh3bp4 |
T |
A |
1: 89,065,518 (GRCm39) |
D37E |
probably benign |
Het |
Tango2 |
G |
A |
16: 18,130,530 (GRCm39) |
R80W |
possibly damaging |
Homo |
Tjap1 |
C |
T |
17: 46,569,955 (GRCm39) |
C345Y |
probably damaging |
Homo |
Wdr62 |
T |
C |
7: 29,944,752 (GRCm39) |
D455G |
probably benign |
Het |
Zbtb48 |
A |
G |
4: 152,104,315 (GRCm39) |
I671T |
probably benign |
Het |
Zfp318 |
T |
C |
17: 46,710,485 (GRCm39) |
L736P |
probably damaging |
Homo |
|
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 |
|
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 |
2012-11-05 |