Incidental Mutation 'R8066:Acsm2'
| ID |
620002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm2
|
| Ensembl Gene |
ENSMUSG00000030945 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8066 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119153563-119199913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 119190548 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 517
(T517K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084647]
[ENSMUST00000098084]
[ENSMUST00000123638]
[ENSMUST00000167935]
[ENSMUST00000208019]
|
| AlphaFold |
Q8K0L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084647
AA Change: T497K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: T497K
| 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 damaging
Transcript: ENSMUST00000098084
AA Change: T517K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: T517K
| 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: T88K
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118276
Gene: ENSMUSG00000030945
AA Change: T88K
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118174
Gene: ENSMUSG00000030945
AA Change: T132K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
1 |
144 |
5.1e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167935
AA Change: T492K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: T492K
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,780,689 (GRCm39) |
V177A |
probably benign |
Het |
| Adam29 |
T |
G |
8: 56,325,703 (GRCm39) |
L250F |
probably benign |
Het |
| Ankrd37 |
T |
C |
8: 46,450,726 (GRCm39) |
D135G |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,980 (GRCm39) |
T572A |
possibly damaging |
Het |
| Aspa |
T |
C |
11: 73,204,372 (GRCm39) |
K199E |
possibly damaging |
Het |
| Aurka |
A |
T |
2: 172,212,338 (GRCm39) |
I13K |
probably benign |
Het |
| Bag6 |
A |
G |
17: 35,361,283 (GRCm39) |
D446G |
unknown |
Het |
| Bcar3 |
A |
T |
3: 122,318,573 (GRCm39) |
I654F |
probably damaging |
Het |
| Ccdc188 |
A |
T |
16: 18,037,058 (GRCm39) |
N210Y |
probably damaging |
Het |
| Ccdc25 |
A |
T |
14: 66,083,751 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ccn5 |
G |
T |
2: 163,670,862 (GRCm39) |
C123F |
probably damaging |
Het |
| Cdc37 |
C |
T |
9: 21,054,437 (GRCm39) |
E63K |
probably benign |
Het |
| Chrm4 |
T |
A |
2: 91,758,042 (GRCm39) |
L150H |
probably damaging |
Het |
| Col5a2 |
A |
T |
1: 45,452,628 (GRCm39) |
|
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,633,104 (GRCm39) |
Y117* |
probably null |
Het |
| Cyp4f37 |
C |
A |
17: 32,854,047 (GRCm39) |
R499S |
probably benign |
Het |
| Egr4 |
T |
C |
6: 85,489,277 (GRCm39) |
Y261C |
probably damaging |
Het |
| Fanca |
A |
T |
8: 124,030,679 (GRCm39) |
C468S |
unknown |
Het |
| Gart |
T |
C |
16: 91,436,335 (GRCm39) |
N141D |
probably benign |
Het |
| Get4 |
G |
A |
5: 139,249,293 (GRCm39) |
V126M |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,263 (GRCm39) |
S370G |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,230,812 (GRCm39) |
K162R |
probably benign |
Het |
| Grpel1 |
A |
G |
5: 36,626,889 (GRCm39) |
D57G |
probably benign |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,361,744 (GRCm39) |
L1149P |
probably benign |
Het |
| Lmbrd2 |
G |
A |
15: 9,172,172 (GRCm39) |
R322Q |
probably benign |
Het |
| Lrrc59 |
T |
C |
11: 94,525,426 (GRCm39) |
L74P |
possibly damaging |
Het |
| Mcam |
G |
T |
9: 44,052,257 (GRCm39) |
K589N |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nadk |
G |
T |
4: 155,661,524 (GRCm39) |
D17Y |
probably benign |
Het |
| Nrap |
A |
T |
19: 56,342,562 (GRCm39) |
L813Q |
possibly damaging |
Het |
| Oga |
T |
C |
19: 45,760,291 (GRCm39) |
K289R |
probably damaging |
Het |
| Or10h1 |
T |
C |
17: 33,418,126 (GRCm39) |
F35L |
probably benign |
Het |
| Or14a260 |
A |
T |
7: 85,985,014 (GRCm39) |
C197S |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,978,761 (GRCm39) |
V213I |
possibly damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,859,435 (GRCm39) |
I164L |
probably benign |
Het |
| Pck2 |
C |
A |
14: 55,781,858 (GRCm39) |
P251H |
probably benign |
Het |
| Phip |
A |
T |
9: 82,757,351 (GRCm39) |
I1607K |
probably benign |
Het |
| Piwil2 |
T |
C |
14: 70,658,168 (GRCm39) |
T220A |
probably benign |
Het |
| Plch1 |
G |
A |
3: 63,618,478 (GRCm39) |
Q686* |
probably null |
Het |
| Pnpla2 |
A |
G |
7: 141,039,581 (GRCm39) |
*487W |
probably null |
Het |
| Prdm14 |
C |
A |
1: 13,184,540 (GRCm39) |
G544C |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,452,218 (GRCm39) |
E45G |
possibly damaging |
Het |
| Psmb5 |
T |
C |
14: 54,851,698 (GRCm39) |
D249G |
probably benign |
Het |
| Pstpip1 |
A |
G |
9: 56,033,913 (GRCm39) |
I296V |
probably benign |
Het |
| S1pr3 |
T |
A |
13: 51,573,955 (GRCm39) |
*379R |
probably null |
Het |
| Smc3 |
G |
A |
19: 53,603,576 (GRCm39) |
R57H |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,971,929 (GRCm39) |
Q421K |
possibly damaging |
Het |
| Srcap |
T |
A |
7: 127,139,484 (GRCm39) |
H1268Q |
possibly damaging |
Het |
| Srcap |
C |
T |
7: 127,120,804 (GRCm39) |
R155C |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,748,339 (GRCm39) |
F438L |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,113,650 (GRCm39) |
V999A |
probably benign |
Het |
| Tchp |
T |
A |
5: 114,847,472 (GRCm39) |
L97Q |
probably benign |
Het |
| Tex46 |
G |
A |
4: 136,340,265 (GRCm39) |
V117M |
probably benign |
Het |
| Tnnc2 |
T |
A |
2: 164,619,661 (GRCm39) |
I102F |
possibly damaging |
Het |
| Trbv5 |
T |
A |
6: 41,039,326 (GRCm39) |
C12S |
probably damaging |
Het |
| Trub2 |
T |
A |
2: 29,667,867 (GRCm39) |
T258S |
possibly damaging |
Het |
| Uba3 |
T |
A |
6: 97,178,882 (GRCm39) |
N87I |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,315 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn1r192 |
G |
T |
13: 22,371,565 (GRCm39) |
Y218* |
probably null |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,419 (GRCm39) |
M157V |
probably benign |
Het |
| Vps53 |
T |
C |
11: 76,027,133 (GRCm39) |
E127G |
probably damaging |
Het |
| Vsig10 |
G |
T |
5: 117,489,849 (GRCm39) |
E538D |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,796,095 (GRCm39) |
H188Q |
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 |
|
|
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 |
|
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'- ACAGTCCTTTGCCTCACAAG -3'
Sequencing Primer
(F):5'- CTTCATAGGGCGGTCAGACGATATC -3'
(R):5'- GTCTGTGTTCTTAGGCACT -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation