Incidental Mutation 'IGL01446:Acsm3'
ID |
84432 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acsm3
|
Ensembl Gene |
ENSMUSG00000030935 |
Gene Name |
acyl-CoA synthetase medium-chain family member 3 |
Synonyms |
Sah, Sa |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01446
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 119377677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 401
(V401M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
|
AlphaFold |
Q3UNX5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000063770
AA Change: V401M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000068803 Gene: ENSMUSG00000030935 AA Change: V401M
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063902
|
SMART Domains |
Protein: ENSMUSP00000068633 Gene: ENSMUSG00000030929
Domain | Start | End | E-Value | Type |
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
transmembrane domain
|
245 |
262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106523
|
SMART Domains |
Protein: ENSMUSP00000102133 Gene: ENSMUSG00000030929
Domain | Start | End | E-Value | Type |
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106526
AA Change: V401M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102136 Gene: ENSMUSG00000030935 AA Change: V401M
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106527
AA Change: V401M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102137 Gene: ENSMUSG00000030935 AA Change: V401M
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106528
AA Change: V401M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102138 Gene: ENSMUSG00000030935 AA Change: V401M
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
65 |
478 |
3.7e-86 |
PFAM |
Pfam:AMP-binding_C
|
486 |
566 |
1.8e-21 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106529
AA Change: V401M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102139 Gene: ENSMUSG00000030935 AA Change: V401M
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
65 |
478 |
1.1e-78 |
PFAM |
Pfam:AMP-binding_C
|
486 |
566 |
9.3e-23 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154828
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149766
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149598
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice are viable and fertile with normal kidney function and morphology and blood pressure similar to wild-type on either a regular or high salt diet. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,151,457 (GRCm39) |
K785R |
probably damaging |
Het |
Aff4 |
G |
T |
11: 53,306,296 (GRCm39) |
R1146L |
probably damaging |
Het |
Alms1 |
C |
A |
6: 85,673,683 (GRCm39) |
P3562T |
probably damaging |
Het |
Arsj |
A |
G |
3: 126,232,463 (GRCm39) |
E403G |
probably benign |
Het |
Baiap2l1 |
C |
T |
5: 144,212,723 (GRCm39) |
V431I |
probably benign |
Het |
Cecr2 |
T |
A |
6: 120,735,560 (GRCm39) |
M904K |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,943,300 (GRCm39) |
T775S |
probably benign |
Het |
Dennd1b |
G |
A |
1: 138,950,848 (GRCm39) |
E30K |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,326,815 (GRCm39) |
D2008G |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
Ell2 |
G |
T |
13: 75,910,110 (GRCm39) |
L285F |
probably benign |
Het |
Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
Extl3 |
A |
G |
14: 65,314,529 (GRCm39) |
F218L |
probably benign |
Het |
Fzd9 |
T |
C |
5: 135,279,420 (GRCm39) |
E155G |
probably damaging |
Het |
Ghr |
A |
G |
15: 3,362,837 (GRCm39) |
W212R |
probably damaging |
Het |
Gulp1 |
A |
G |
1: 44,783,708 (GRCm39) |
|
probably benign |
Het |
Hdgfl2 |
C |
T |
17: 56,404,281 (GRCm39) |
R332C |
possibly damaging |
Het |
Lratd1 |
A |
T |
12: 14,199,929 (GRCm39) |
I266N |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,018,530 (GRCm39) |
|
probably benign |
Het |
Or4c12 |
A |
G |
2: 89,774,282 (GRCm39) |
F59S |
probably damaging |
Het |
Or5a3 |
T |
C |
19: 12,400,165 (GRCm39) |
I164T |
possibly damaging |
Het |
Or5b121 |
C |
T |
19: 13,507,616 (GRCm39) |
T237I |
probably benign |
Het |
Phf11b |
A |
C |
14: 59,578,740 (GRCm39) |
S9A |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,295,407 (GRCm39) |
S854P |
probably damaging |
Het |
Reln |
C |
T |
5: 22,174,315 (GRCm39) |
D1963N |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,306,042 (GRCm39) |
|
probably benign |
Het |
Sdccag8 |
T |
C |
1: 176,672,811 (GRCm39) |
S235P |
probably damaging |
Het |
Sgip1 |
G |
T |
4: 102,786,110 (GRCm39) |
|
probably null |
Het |
Skint5 |
G |
A |
4: 113,800,019 (GRCm39) |
P36L |
probably damaging |
Het |
Slc26a3 |
G |
T |
12: 31,502,490 (GRCm39) |
|
probably benign |
Het |
Snx13 |
T |
A |
12: 35,174,479 (GRCm39) |
C669* |
probably null |
Het |
Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,088,149 (GRCm39) |
S4989P |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,640,283 (GRCm39) |
T13775M |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,165,351 (GRCm39) |
|
probably benign |
Het |
Ush1c |
C |
T |
7: 45,858,380 (GRCm39) |
R636H |
possibly damaging |
Het |
Usp17lc |
A |
T |
7: 103,067,651 (GRCm39) |
R315S |
probably benign |
Het |
Vmn1r236 |
T |
A |
17: 21,506,918 (GRCm39) |
V12D |
probably benign |
Het |
Wsb2 |
T |
G |
5: 117,509,229 (GRCm39) |
I170S |
probably damaging |
Het |
Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
Other mutations in Acsm3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00500:Acsm3
|
APN |
7 |
119,383,567 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01434:Acsm3
|
APN |
7 |
119,380,297 (GRCm39) |
unclassified |
probably benign |
|
IGL01800:Acsm3
|
APN |
7 |
119,373,866 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01882:Acsm3
|
APN |
7 |
119,373,858 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01954:Acsm3
|
APN |
7 |
119,374,306 (GRCm39) |
splice site |
probably benign |
|
PIT4677001:Acsm3
|
UTSW |
7 |
119,374,340 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4696001:Acsm3
|
UTSW |
7 |
119,384,209 (GRCm39) |
splice site |
probably null |
|
R0422:Acsm3
|
UTSW |
7 |
119,372,963 (GRCm39) |
nonsense |
probably null |
|
R0423:Acsm3
|
UTSW |
7 |
119,376,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R0729:Acsm3
|
UTSW |
7 |
119,383,207 (GRCm39) |
utr 3 prime |
probably benign |
|
R0731:Acsm3
|
UTSW |
7 |
119,367,247 (GRCm39) |
nonsense |
probably null |
|
R0732:Acsm3
|
UTSW |
7 |
119,373,057 (GRCm39) |
missense |
probably benign |
0.40 |
R0744:Acsm3
|
UTSW |
7 |
119,376,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0836:Acsm3
|
UTSW |
7 |
119,376,323 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1926:Acsm3
|
UTSW |
7 |
119,376,359 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Acsm3
|
UTSW |
7 |
119,383,527 (GRCm39) |
missense |
probably benign |
|
R2429:Acsm3
|
UTSW |
7 |
119,367,223 (GRCm39) |
missense |
probably benign |
|
R3940:Acsm3
|
UTSW |
7 |
119,373,109 (GRCm39) |
missense |
probably benign |
0.03 |
R4386:Acsm3
|
UTSW |
7 |
119,373,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R5437:Acsm3
|
UTSW |
7 |
119,377,720 (GRCm39) |
intron |
probably benign |
|
R5890:Acsm3
|
UTSW |
7 |
119,374,457 (GRCm39) |
missense |
probably benign |
|
R6278:Acsm3
|
UTSW |
7 |
119,373,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6350:Acsm3
|
UTSW |
7 |
119,367,256 (GRCm39) |
missense |
probably benign |
|
R6497:Acsm3
|
UTSW |
7 |
119,379,972 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6582:Acsm3
|
UTSW |
7 |
119,378,896 (GRCm39) |
missense |
probably benign |
|
R6670:Acsm3
|
UTSW |
7 |
119,379,978 (GRCm39) |
splice site |
probably null |
|
R6939:Acsm3
|
UTSW |
7 |
119,377,678 (GRCm39) |
missense |
probably damaging |
1.00 |
R7037:Acsm3
|
UTSW |
7 |
119,367,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R7087:Acsm3
|
UTSW |
7 |
119,373,870 (GRCm39) |
missense |
probably damaging |
1.00 |
R7301:Acsm3
|
UTSW |
7 |
119,376,308 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7381:Acsm3
|
UTSW |
7 |
119,380,049 (GRCm39) |
missense |
probably damaging |
0.98 |
R7396:Acsm3
|
UTSW |
7 |
119,373,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R7594:Acsm3
|
UTSW |
7 |
119,384,213 (GRCm39) |
splice site |
probably null |
|
R8676:Acsm3
|
UTSW |
7 |
119,374,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R9026:Acsm3
|
UTSW |
7 |
119,373,845 (GRCm39) |
missense |
probably benign |
0.29 |
R9221:Acsm3
|
UTSW |
7 |
119,368,131 (GRCm39) |
nonsense |
probably null |
|
R9283:Acsm3
|
UTSW |
7 |
119,373,115 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9483:Acsm3
|
UTSW |
7 |
119,383,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-11-11 |