Incidental Mutation 'IGL00930:Acsm2'
| ID | 27826 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Acsm2
|
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| Ensembl Gene |
ENSMUSG00000030945 |
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| Gene Name | acyl-CoA synthetase medium-chain family member 2 |
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| Synonyms | |
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| Accession Numbers | |
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| Is this an essential gene? |
Non essential (E-score: 0.000)
|
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| Stock # | IGL00930
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 7 |
|---|
| Chromosomal Location | 119554340-119600690 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 119592310 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Serine to Proline
at position 534
(S534P)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000126670
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084647]
[ENSMUST00000098084]
[ENSMUST00000123638]
[ENSMUST00000167935]
[ENSMUST00000208019]
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084647
AA Change: S539P
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
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| SMART Domains |
Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: S539P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
57 |
470 |
8.9e-79 |
PFAM |
|
Pfam:AMP-binding_C
|
478 |
558 |
3.2e-20 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000098084
AA Change: S559P
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
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| SMART Domains |
Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: S559P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
82 |
495 |
9.7e-71 |
PFAM |
|
Pfam:AMP-binding_C
|
503 |
583 |
5.8e-22 |
PFAM |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123638
AA Change: S130P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
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| SMART Domains |
Protein: ENSMUSP00000118276
Gene: ENSMUSG00000030945
AA Change: S130P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
1 |
66 |
6.6e-13 |
PFAM |
|
Pfam:AMP-binding_C
|
74 |
150 |
1.1e-16 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129658
|
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| Predicted Effect |
unknown
Transcript: ENSMUST00000129766
AA Change: S174P
|
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| SMART Domains |
Protein: ENSMUSP00000118174
Gene: ENSMUSG00000030945
AA Change: S174P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
1 |
144 |
5.1e-33 |
PFAM |
|
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| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167935
AA Change: S534P
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: S534P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
57 |
470 |
9.1e-79 |
PFAM |
|
Pfam:AMP-binding_C
|
483 |
563 |
3.2e-20 |
PFAM |
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000207977
AA Change: S44P
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000208019
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
G |
A |
9: 30,902,053 |
P939S |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,601,310 |
S207P |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,805,181 |
K747E |
probably damaging |
Het |
| Dock5 |
G |
T |
14: 67,771,077 |
N1457K |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,682,591 |
E323G |
possibly damaging |
Het |
| Epc1 |
T |
A |
18: 6,449,196 |
M434L |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,222,533 |
|
probably benign |
Het |
| Hemgn |
A |
T |
4: 46,396,383 |
C284* |
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,649,902 |
R517L |
probably damaging |
Het |
| Olfr854 |
A |
G |
9: 19,567,175 |
S67P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,630,698 |
E1450K |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,429,645 |
H420L |
probably benign |
Het |
| Pitpnm2 |
A |
G |
5: 124,121,663 |
|
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,226,445 |
|
probably benign |
Het |
| Prmt3 |
T |
A |
7: 49,792,009 |
Y245N |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,329,007 |
Y41H |
probably damaging |
Het |
| Tpst1 |
A |
T |
5: 130,102,134 |
K148N |
probably benign |
Het |
| Vmn1r199 |
A |
G |
13: 22,382,859 |
T108A |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,740,244 |
C525* |
probably null |
Het |
| Zfp646 |
A |
G |
7: 127,879,130 |
T160A |
possibly damaging |
Het |
|
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| Other mutations in Acsm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00782:Acsm2
|
APN |
7 |
119573168 |
missense |
probably damaging |
1.00 |
|
IGL01472:Acsm2
|
APN |
7 |
119554536 |
critical splice donor site |
probably null |
|
|
IGL01927:Acsm2
|
APN |
7 |
119578212 |
missense |
possibly damaging |
0.75 |
|
IGL02550:Acsm2
|
APN |
7 |
119573284 |
missense |
probably damaging |
1.00 |
|
IGL02551:Acsm2
|
APN |
7 |
119573284 |
missense |
probably damaging |
1.00 |
|
IGL02818:Acsm2
|
APN |
7 |
119573581 |
splice site |
probably null |
|
|
IGL03064:Acsm2
|
APN |
7 |
119575641 |
missense |
probably damaging |
0.98 |
|
PIT4469001:Acsm2
|
UTSW |
7 |
119578185 |
missense |
possibly damaging |
0.51 |
|
R0395:Acsm2
|
UTSW |
7 |
119575746 |
missense |
probably damaging |
1.00 |
|
R0416:Acsm2
|
UTSW |
7 |
119563556 |
missense |
probably benign |
0.00 |
|
R0783:Acsm2
|
UTSW |
7 |
119573117 |
missense |
probably damaging |
1.00 |
|
R1252:Acsm2
|
UTSW |
7 |
119573245 |
missense |
probably benign |
0.15 |
|
R1432:Acsm2
|
UTSW |
7 |
119573575 |
missense |
possibly damaging |
0.83 |
|
R1494:Acsm2
|
UTSW |
7 |
119575632 |
missense |
probably damaging |
1.00 |
|
R1495:Acsm2
|
UTSW |
7 |
119578126 |
missense |
probably damaging |
1.00 |
|
R1642:Acsm2
|
UTSW |
7 |
119563637 |
missense |
probably damaging |
1.00 |
|
R1702:Acsm2
|
UTSW |
7 |
119573564 |
missense |
possibly damaging |
0.88 |
|
R2082:Acsm2
|
UTSW |
7 |
119580634 |
missense |
probably benign |
0.00 |
|
R2420:Acsm2
|
UTSW |
7 |
119563634 |
missense |
probably damaging |
1.00 |
|
R3612:Acsm2
|
UTSW |
7 |
119591330 |
missense |
probably damaging |
0.97 |
|
R4396:Acsm2
|
UTSW |
7 |
119595920 |
missense |
probably damaging |
1.00 |
|
R4433:Acsm2
|
UTSW |
7 |
119554509 |
missense |
unknown |
|
|
R4568:Acsm2
|
UTSW |
7 |
119563517 |
missense |
probably benign |
0.00 |
|
R4718:Acsm2
|
UTSW |
7 |
119573603 |
missense |
probably damaging |
0.96 |
|
R5025:Acsm2
|
UTSW |
7 |
119554496 |
missense |
unknown |
|
|
R5497:Acsm2
|
UTSW |
7 |
119573320 |
missense |
possibly damaging |
0.69 |
|
R5509:Acsm2
|
UTSW |
7 |
119573617 |
missense |
probably damaging |
1.00 |
|
R5682:Acsm2
|
UTSW |
7 |
119563551 |
missense |
probably benign |
0.12 |
|
R5941:Acsm2
|
UTSW |
7 |
119591098 |
missense |
probably damaging |
1.00 |
|
R5956:Acsm2
|
UTSW |
7 |
119554481 |
missense |
unknown |
|
|
R6129:Acsm2
|
UTSW |
7 |
119591247 |
splice site |
probably null |
|
|
R6212:Acsm2
|
UTSW |
7 |
119573282 |
missense |
probably damaging |
1.00 |
|
R7026:Acsm2
|
UTSW |
7 |
119592227 |
missense |
probably damaging |
1.00 |
|
R7227:Acsm2
|
UTSW |
7 |
119591333 |
missense |
probably benign |
|
|
R7903:Acsm2
|
UTSW |
7 |
119595992 |
missense |
probably benign |
0.22 |
|
R7954:Acsm2
|
UTSW |
7 |
119580729 |
missense |
probably damaging |
1.00 |
|
R8002:Acsm2
|
UTSW |
7 |
119573257 |
missense |
possibly damaging |
0.81 |
|
R8066:Acsm2
|
UTSW |
7 |
119591325 |
missense |
probably damaging |
0.99 |
|
Z1177:Acsm2
|
UTSW |
7 |
119578093 |
missense |
probably damaging |
1.00 |
|
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| Posted On | 2013-04-17 |
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