Incidental Mutation 'IGL01882:Acsm3'
ID |
179045 |
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 # |
IGL01882
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119373858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 248
(L248S)
|
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: L248S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000068803 Gene: ENSMUSG00000030935 AA Change: L248S
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: L248S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102136 Gene: ENSMUSG00000030935 AA Change: L248S
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: L248S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102137 Gene: ENSMUSG00000030935 AA Change: L248S
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: L248S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102138 Gene: ENSMUSG00000030935 AA Change: L248S
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: L248S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102139 Gene: ENSMUSG00000030935 AA Change: L248S
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: ENSMUST00000149598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149766
|
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: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef17 |
A |
T |
7: 100,527,787 (GRCm39) |
C734* |
probably null |
Het |
Bcat1 |
G |
A |
6: 144,950,135 (GRCm39) |
T354M |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,523,601 (GRCm39) |
V246A |
probably benign |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm3696 |
G |
T |
14: 18,433,062 (GRCm39) |
Q199K |
probably benign |
Het |
Ifna2 |
A |
G |
4: 88,601,979 (GRCm39) |
V13A |
possibly damaging |
Het |
Letm1 |
A |
G |
5: 33,927,009 (GRCm39) |
V96A |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,319,018 (GRCm39) |
I749V |
possibly damaging |
Het |
Mkln1 |
A |
G |
6: 31,428,469 (GRCm39) |
N266S |
probably benign |
Het |
Or8b35 |
A |
G |
9: 37,903,856 (GRCm39) |
T18A |
probably damaging |
Het |
Pdia4 |
A |
G |
6: 47,780,412 (GRCm39) |
L307P |
probably benign |
Het |
Ptprz1 |
C |
T |
6: 23,000,463 (GRCm39) |
P851L |
probably 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 |
IGL01800:Acsm3
|
APN |
7 |
119,373,866 (GRCm39) |
missense |
possibly damaging |
0.68 |
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 |
2014-05-07 |