Incidental Mutation 'R4568:Acsm2'
| ID |
341946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm2
|
| Ensembl Gene |
ENSMUSG00000030945 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 2 |
| Synonyms |
|
| MMRRC Submission |
041792-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
119153563-119199913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119162740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 5
(W5R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084647]
[ENSMUST00000098084]
[ENSMUST00000130583]
[ENSMUST00000167935]
|
| AlphaFold |
Q8K0L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084647
AA Change: W5R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: W5R
| 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: W30R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: W30R
| 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 benign
Transcript: ENSMUST00000130583
AA Change: W5R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: W5R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
57 |
145 |
6.7e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150228
AA Change: W17R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167935
AA Change: W5R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: W5R
| 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 |
noncoding transcript
Transcript: ENSMUST00000209069
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bik |
T |
C |
15: 83,425,645 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,555,031 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,299,175 (GRCm39) |
I83T |
probably damaging |
Het |
| Csn1s1 |
G |
A |
5: 87,828,763 (GRCm39) |
V276I |
possibly damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,688,588 (GRCm39) |
T344M |
possibly damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,098,258 (GRCm39) |
P378S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gpr139 |
C |
T |
7: 118,744,028 (GRCm39) |
V186M |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,386,657 (GRCm39) |
T422A |
probably damaging |
Het |
| Lgals8 |
T |
G |
13: 12,468,254 (GRCm39) |
Y125S |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,079 (GRCm39) |
G107D |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,702,448 (GRCm39) |
Y599* |
probably null |
Het |
| Omt2b |
T |
A |
9: 78,235,529 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,035 (GRCm39) |
E180G |
probably damaging |
Het |
| Or9s15 |
A |
T |
1: 92,525,113 (GRCm39) |
M291L |
probably benign |
Het |
| Pga5 |
A |
G |
19: 10,649,216 (GRCm39) |
Y235H |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,598,081 (GRCm39) |
K869* |
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,972,355 (GRCm39) |
M268V |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,717,977 (GRCm39) |
D624G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,129,873 (GRCm39) |
I1817F |
probably damaging |
Het |
| Psmg3 |
A |
G |
5: 139,812,004 (GRCm39) |
I32T |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,607,789 (GRCm39) |
E757G |
probably damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
T |
A |
16: 94,136,688 (GRCm39) |
D116E |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,118 (GRCm39) |
V263A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,303 (GRCm39) |
H1008R |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,730,722 (GRCm39) |
V379A |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,198,658 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,806 (GRCm39) |
E1121G |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,268,710 (GRCm39) |
|
probably benign |
Het |
| Trpv6 |
G |
T |
6: 41,603,503 (GRCm39) |
P206H |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,583,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
C |
T |
7: 84,596,677 (GRCm39) |
C126Y |
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 |
|
R3612:Acsm2
|
UTSW |
7 |
119,190,553 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4396:Acsm2
|
UTSW |
7 |
119,195,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4433:Acsm2
|
UTSW |
7 |
119,153,732 (GRCm39) |
missense |
unknown |
|
|
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'- CTGTACCAGGCACTCAGTTTC -3'
(R):5'- AAGCATCCCATAATGTTCTATCTCG -3'
Sequencing Primer
(F):5'- GTACCAGGCACTCAGTTTCAATTC -3'
(R):5'- ATGTGACCTTATTCAAGCTGTTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation