Incidental Mutation 'IGL01800:Acsm3'
ID |
155496 |
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 # |
IGL01800
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119373866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 251
(S251P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102139
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
|
AlphaFold |
Q3UNX5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063770
AA Change: S251P
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000068803 Gene: ENSMUSG00000030935 AA Change: S251P
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 |
possibly damaging
Transcript: ENSMUST00000106526
AA Change: S251P
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102136 Gene: ENSMUSG00000030935 AA Change: S251P
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 |
possibly damaging
Transcript: ENSMUST00000106527
AA Change: S251P
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102137 Gene: ENSMUSG00000030935 AA Change: S251P
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 |
possibly damaging
Transcript: ENSMUST00000106528
AA Change: S251P
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102138 Gene: ENSMUSG00000030935 AA Change: S251P
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 |
possibly damaging
Transcript: ENSMUST00000106529
AA Change: S251P
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102139 Gene: ENSMUSG00000030935 AA Change: S251P
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: ENSMUST00000149766
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
G |
19: 43,772,734 (GRCm39) |
Y48C |
possibly damaging |
Het |
Ano5 |
G |
A |
7: 51,222,823 (GRCm39) |
|
probably null |
Het |
Ccdc65 |
C |
T |
15: 98,606,946 (GRCm39) |
A51V |
probably benign |
Het |
Cspg5 |
A |
G |
9: 110,080,218 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
A |
G |
9: 109,914,581 (GRCm39) |
V935A |
possibly damaging |
Het |
Disp3 |
T |
A |
4: 148,334,258 (GRCm39) |
K1012* |
probably null |
Het |
Dock2 |
T |
C |
11: 34,647,100 (GRCm39) |
N18S |
probably damaging |
Het |
Dst |
A |
T |
1: 34,301,173 (GRCm39) |
I1180F |
probably damaging |
Het |
Elp2 |
A |
G |
18: 24,750,548 (GRCm39) |
Y295C |
probably benign |
Het |
Eml2 |
A |
G |
7: 18,935,122 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 39,035,878 (GRCm39) |
T3177A |
probably damaging |
Het |
Flrt2 |
A |
T |
12: 95,746,462 (GRCm39) |
I267F |
probably damaging |
Het |
Gm5611 |
T |
G |
9: 16,941,767 (GRCm39) |
|
noncoding transcript |
Het |
Gstcd |
A |
G |
3: 132,790,335 (GRCm39) |
|
probably null |
Het |
Gucy1b2 |
T |
C |
14: 62,649,104 (GRCm39) |
M476V |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,263,693 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,778,137 (GRCm39) |
F85S |
probably damaging |
Het |
Kcnu1 |
G |
A |
8: 26,427,528 (GRCm39) |
V282M |
probably damaging |
Het |
Lancl1 |
T |
G |
1: 67,060,029 (GRCm39) |
E132A |
probably benign |
Het |
Or4g7 |
T |
C |
2: 111,309,209 (GRCm39) |
F27L |
probably benign |
Het |
Or5b106 |
A |
G |
19: 13,123,993 (GRCm39) |
F10S |
probably damaging |
Het |
Pigm |
G |
A |
1: 172,204,770 (GRCm39) |
A169T |
probably damaging |
Het |
Ppargc1a |
A |
G |
5: 51,652,063 (GRCm39) |
Y212H |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,111,936 (GRCm39) |
|
probably benign |
Het |
Pramel12 |
T |
C |
4: 143,145,650 (GRCm39) |
L373P |
probably damaging |
Het |
Rictor |
T |
C |
15: 6,804,182 (GRCm39) |
I554T |
probably damaging |
Het |
Sbno1 |
G |
A |
5: 124,519,568 (GRCm39) |
|
probably benign |
Het |
Sesn2 |
G |
T |
4: 132,226,418 (GRCm39) |
L194I |
probably damaging |
Het |
Slc26a2 |
A |
T |
18: 61,334,801 (GRCm39) |
Y217* |
probably null |
Het |
Sptbn5 |
G |
T |
2: 119,886,908 (GRCm39) |
|
probably benign |
Het |
Tmem184a |
A |
T |
5: 139,798,899 (GRCm39) |
S17T |
possibly damaging |
Het |
Trhr |
T |
C |
15: 44,092,603 (GRCm39) |
M280T |
possibly damaging |
Het |
Ube2j1 |
A |
T |
4: 33,045,115 (GRCm39) |
E129D |
probably benign |
Het |
Ube4b |
A |
T |
4: 149,415,951 (GRCm39) |
S3T |
probably damaging |
Het |
Vmn2r49 |
A |
T |
7: 9,710,601 (GRCm39) |
C710* |
probably null |
Het |
Vmn2r82 |
C |
T |
10: 79,192,581 (GRCm39) |
R53C |
probably benign |
Het |
Zdhhc2 |
T |
C |
8: 40,917,284 (GRCm39) |
L227P |
probably damaging |
Het |
Zfp995 |
A |
C |
17: 22,099,972 (GRCm39) |
H87Q |
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 |
|
IGL01446:Acsm3
|
APN |
7 |
119,377,677 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-02-04 |