Incidental Mutation 'IGL00500:Acsm3'
| ID |
5140 |
| 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 # |
IGL00500
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
119360106-119384119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119383567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 576
(E576G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102139
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033224]
[ENSMUST00000063770]
[ENSMUST00000063902]
[ENSMUST00000106523]
[ENSMUST00000106526]
[ENSMUST00000106527]
[ENSMUST00000106528]
[ENSMUST00000106529]
[ENSMUST00000150844]
[ENSMUST00000139192]
|
| AlphaFold |
Q3UNX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033224
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063770
AA Change: E576G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068803
Gene: ENSMUSG00000030935
AA Change: E576G
| 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: E576G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102136
Gene: ENSMUSG00000030935
AA Change: E576G
| 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: E576G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102137
Gene: ENSMUSG00000030935
AA Change: E576G
| 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: E576G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102138
Gene: ENSMUSG00000030935
AA Change: E576G
| 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: E576G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102139
Gene: ENSMUSG00000030935
AA Change: E576G
| 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: ENSMUST00000133926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150844
|
| SMART Domains |
Protein: ENSMUSP00000120547
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
EXOIII
|
36 |
235 |
1.41e-13 |
SMART |
|
low complexity region
|
362 |
381 |
N/A |
INTRINSIC |
|
Pfam:zf-GRF
|
592 |
640 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139192
|
| SMART Domains |
Protein: ENSMUSP00000117940
Gene: ENSMUSG00000030929
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RNase_T
|
21 |
160 |
1.2e-13 |
PFAM |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
A |
G |
2: 168,025,243 (GRCm39) |
V684A |
possibly damaging |
Het |
| Agl |
A |
G |
3: 116,566,469 (GRCm39) |
W965R |
probably damaging |
Het |
| AI467606 |
G |
A |
7: 126,691,505 (GRCm39) |
V27I |
probably benign |
Het |
| Ankrd34b |
G |
A |
13: 92,575,295 (GRCm39) |
G176R |
probably benign |
Het |
| Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
| Atp6v1a |
T |
C |
16: 43,931,946 (GRCm39) |
Q114R |
probably benign |
Het |
| B4galt2 |
A |
T |
4: 117,734,378 (GRCm39) |
L257Q |
probably damaging |
Het |
| Chrna10 |
A |
T |
7: 101,761,615 (GRCm39) |
C325* |
probably null |
Het |
| Clip2 |
A |
G |
5: 134,529,011 (GRCm39) |
|
probably benign |
Het |
| Crocc2 |
C |
T |
1: 93,144,766 (GRCm39) |
Q1437* |
probably null |
Het |
| Csmd1 |
C |
T |
8: 15,971,139 (GRCm39) |
V3059M |
probably damaging |
Het |
| Cst5 |
C |
A |
2: 149,247,501 (GRCm39) |
S72R |
probably damaging |
Het |
| Dapk1 |
A |
G |
13: 60,908,618 (GRCm39) |
D1077G |
probably damaging |
Het |
| Dhx9 |
T |
C |
1: 153,341,494 (GRCm39) |
T585A |
probably damaging |
Het |
| Fam210a |
G |
A |
18: 68,408,854 (GRCm39) |
T152I |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,159,436 (GRCm39) |
Q2214L |
probably damaging |
Het |
| Fpr1 |
T |
A |
17: 18,097,263 (GRCm39) |
Q242L |
probably benign |
Het |
| G2e3 |
A |
G |
12: 51,400,581 (GRCm39) |
|
probably null |
Het |
| Gcdh |
C |
T |
8: 85,615,146 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,319 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
T |
A |
10: 77,400,558 (GRCm39) |
W724R |
probably damaging |
Het |
| Klhl2 |
T |
C |
8: 65,202,120 (GRCm39) |
T519A |
probably benign |
Het |
| Krtap12-1 |
G |
T |
10: 77,556,814 (GRCm39) |
C119F |
possibly damaging |
Het |
| Nrap |
T |
A |
19: 56,361,341 (GRCm39) |
K369N |
probably damaging |
Het |
| Nrg1 |
T |
A |
8: 32,312,342 (GRCm39) |
|
probably null |
Het |
| Plekhh3 |
T |
A |
11: 101,056,519 (GRCm39) |
|
probably null |
Het |
| Ppm1b |
A |
G |
17: 85,310,712 (GRCm39) |
S289G |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,476,550 (GRCm39) |
*313C |
probably null |
Het |
| Rab40c |
T |
C |
17: 26,104,059 (GRCm39) |
E111G |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,051,906 (GRCm39) |
C85S |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,802,743 (GRCm39) |
E598K |
possibly damaging |
Het |
| Slfn8 |
T |
A |
11: 82,904,310 (GRCm39) |
D360V |
possibly damaging |
Het |
| Sspo |
C |
A |
6: 48,474,355 (GRCm39) |
C4925* |
probably null |
Het |
| Vps8 |
A |
G |
16: 21,261,084 (GRCm39) |
T75A |
possibly damaging |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,405 (GRCm39) |
T61S |
probably benign |
Het |
|
| Other mutations in Acsm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation