Incidental Mutation 'R3612:Acsm2'
ID |
269257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsm2
|
Ensembl Gene |
ENSMUSG00000030945 |
Gene Name |
acyl-CoA synthetase medium-chain family member 2 |
Synonyms |
|
MMRRC Submission |
040672-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3612 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
119153563-119199913 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 119190553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 90
(V90L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118276
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084647]
[ENSMUST00000098084]
[ENSMUST00000123638]
[ENSMUST00000167935]
[ENSMUST00000208019]
|
AlphaFold |
Q8K0L3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084647
AA Change: V499L
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000081697 Gene: ENSMUSG00000030945 AA Change: V499L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098084
AA Change: V519L
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000095690 Gene: ENSMUSG00000030945 AA Change: V519L
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123638
AA Change: V90L
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118276 Gene: ENSMUSG00000030945 AA Change: V90L
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129658
|
Predicted Effect |
unknown
Transcript: ENSMUST00000129766
AA Change: V134L
|
SMART Domains |
Protein: ENSMUSP00000118174 Gene: ENSMUSG00000030945 AA Change: V134L
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
1 |
144 |
5.1e-33 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167935
AA Change: V494L
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000126670 Gene: ENSMUSG00000030945 AA Change: V494L
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 |
probably benign
Transcript: ENSMUST00000207977
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208019
|
Meta Mutation Damage Score |
0.2608 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (31/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aacs |
T |
C |
5: 125,580,251 (GRCm39) |
V192A |
probably damaging |
Het |
Adam5 |
T |
C |
8: 25,308,105 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
A |
T |
17: 66,290,542 (GRCm39) |
D1630E |
probably benign |
Het |
Ccdc88c |
A |
T |
12: 100,905,332 (GRCm39) |
I1085N |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,270,256 (GRCm39) |
|
probably benign |
Het |
Cdh19 |
A |
T |
1: 110,821,026 (GRCm39) |
C571S |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,377,443 (GRCm39) |
L1491* |
probably null |
Het |
Cherp |
G |
A |
8: 73,215,840 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
T |
C |
14: 87,274,893 (GRCm39) |
S188G |
probably null |
Het |
Ech1 |
C |
T |
7: 28,529,668 (GRCm39) |
R34C |
probably damaging |
Het |
Erc2 |
T |
C |
14: 27,499,134 (GRCm39) |
S337P |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fah |
A |
G |
7: 84,234,498 (GRCm39) |
V412A |
probably damaging |
Het |
Gatc |
T |
A |
5: 115,473,545 (GRCm39) |
E131D |
probably benign |
Het |
Glrb |
A |
G |
3: 80,769,337 (GRCm39) |
V130A |
possibly damaging |
Het |
Gm4782 |
T |
A |
6: 50,585,610 (GRCm39) |
|
probably null |
Het |
Klhl1 |
C |
T |
14: 96,619,206 (GRCm39) |
|
probably null |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo15a |
G |
C |
11: 60,368,505 (GRCm39) |
D422H |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,961,653 (GRCm39) |
H360Q |
probably damaging |
Het |
Or1e22 |
T |
C |
11: 73,376,766 (GRCm39) |
R295G |
probably benign |
Het |
Ppargc1b |
T |
C |
18: 61,443,627 (GRCm39) |
N528S |
probably benign |
Het |
Rprd2 |
G |
A |
3: 95,671,464 (GRCm39) |
P1313L |
probably damaging |
Het |
Slc12a7 |
C |
A |
13: 73,958,042 (GRCm39) |
D955E |
probably benign |
Het |
Slc9a2 |
G |
A |
1: 40,758,218 (GRCm39) |
|
probably null |
Het |
Tex24 |
T |
A |
8: 27,835,201 (GRCm39) |
V243D |
probably benign |
Het |
Vmn2r17 |
A |
G |
5: 109,577,463 (GRCm39) |
T505A |
probably benign |
Het |
Vps37a |
T |
C |
8: 40,997,977 (GRCm39) |
|
probably benign |
Het |
Zmynd19 |
A |
G |
2: 24,841,492 (GRCm39) |
Y20C |
probably damaging |
Het |
|
Other mutations in Acsm2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00782:Acsm2
|
APN |
7 |
119,172,391 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00930:Acsm2
|
APN |
7 |
119,191,533 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01472:Acsm2
|
APN |
7 |
119,153,759 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01927:Acsm2
|
APN |
7 |
119,177,435 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02550:Acsm2
|
APN |
7 |
119,172,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02551:Acsm2
|
APN |
7 |
119,172,507 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02818:Acsm2
|
APN |
7 |
119,172,804 (GRCm39) |
splice site |
probably null |
|
IGL03064:Acsm2
|
APN |
7 |
119,174,864 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4469001:Acsm2
|
UTSW |
7 |
119,177,408 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0395:Acsm2
|
UTSW |
7 |
119,174,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R0416:Acsm2
|
UTSW |
7 |
119,162,779 (GRCm39) |
missense |
probably benign |
0.00 |
R0783:Acsm2
|
UTSW |
7 |
119,172,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R1252:Acsm2
|
UTSW |
7 |
119,172,468 (GRCm39) |
missense |
probably benign |
0.15 |
R1432:Acsm2
|
UTSW |
7 |
119,172,798 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1494:Acsm2
|
UTSW |
7 |
119,174,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Acsm2
|
UTSW |
7 |
119,177,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R1642:Acsm2
|
UTSW |
7 |
119,162,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R1702:Acsm2
|
UTSW |
7 |
119,172,787 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2082:Acsm2
|
UTSW |
7 |
119,179,857 (GRCm39) |
missense |
probably benign |
0.00 |
R2420:Acsm2
|
UTSW |
7 |
119,162,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R4396:Acsm2
|
UTSW |
7 |
119,195,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R4433:Acsm2
|
UTSW |
7 |
119,153,732 (GRCm39) |
missense |
unknown |
|
R4568:Acsm2
|
UTSW |
7 |
119,162,740 (GRCm39) |
missense |
probably benign |
0.00 |
R4718:Acsm2
|
UTSW |
7 |
119,172,826 (GRCm39) |
missense |
probably damaging |
0.96 |
R5025:Acsm2
|
UTSW |
7 |
119,153,719 (GRCm39) |
missense |
unknown |
|
R5497:Acsm2
|
UTSW |
7 |
119,172,543 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5509:Acsm2
|
UTSW |
7 |
119,172,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Acsm2
|
UTSW |
7 |
119,162,774 (GRCm39) |
missense |
probably benign |
0.12 |
R5941:Acsm2
|
UTSW |
7 |
119,190,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R5956:Acsm2
|
UTSW |
7 |
119,153,704 (GRCm39) |
missense |
unknown |
|
R6129:Acsm2
|
UTSW |
7 |
119,190,470 (GRCm39) |
splice site |
probably null |
|
R6212:Acsm2
|
UTSW |
7 |
119,172,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R7026:Acsm2
|
UTSW |
7 |
119,191,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7227:Acsm2
|
UTSW |
7 |
119,190,556 (GRCm39) |
missense |
probably benign |
|
R7903:Acsm2
|
UTSW |
7 |
119,195,215 (GRCm39) |
missense |
probably benign |
0.22 |
R7954:Acsm2
|
UTSW |
7 |
119,179,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R8002:Acsm2
|
UTSW |
7 |
119,172,480 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8066:Acsm2
|
UTSW |
7 |
119,190,548 (GRCm39) |
missense |
probably damaging |
0.99 |
R9185:Acsm2
|
UTSW |
7 |
119,177,421 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9200:Acsm2
|
UTSW |
7 |
119,179,839 (GRCm39) |
nonsense |
probably null |
|
R9324:Acsm2
|
UTSW |
7 |
119,179,856 (GRCm39) |
missense |
probably benign |
|
R9507:Acsm2
|
UTSW |
7 |
119,179,939 (GRCm39) |
missense |
probably benign |
|
R9623:Acsm2
|
UTSW |
7 |
119,181,975 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Acsm2
|
UTSW |
7 |
119,177,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCACTTCATAGGGCGG -3'
(R):5'- CAGTCCTTTGCCTCACAAGTG -3'
Sequencing Primer
(F):5'- CTTCATAGGGCGGTCAGACGATATC -3'
(R):5'- GGCAATTTGAACCCAAGC -3'
|
Posted On |
2015-02-19 |