Incidental Mutation 'R5025:Acsm2'
| ID |
391297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm2
|
| Ensembl Gene |
ENSMUSG00000030945 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 2 |
| Synonyms |
|
| MMRRC Submission |
042616-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5025 (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 119153719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 10
(F10I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098084]
|
| AlphaFold |
Q8K0L3 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000098084
AA Change: F10I
|
| SMART Domains |
Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: F10I
| 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 |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
| Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
| Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
| Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
| Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
| Glra1 |
C |
T |
11: 55,427,331 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
| Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
| Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
| Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
| Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly 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 |
|
|
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 |
|
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'- CTGGACTACATTGTGTGGTGTA -3'
(R):5'- AGCGAGTTGATGAATTGCACA -3'
Sequencing Primer
(F):5'- ACATTGTGTGGTGTATATAAAGGAC -3'
(R):5'- TGACATCAGTGTGGGACATCCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation