Incidental Mutation 'R5509:Acsm2'
| ID |
431075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm2
|
| Ensembl Gene |
ENSMUSG00000030945 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 2 |
| Synonyms |
|
| MMRRC Submission |
043070-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5509 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119153563-119199913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119172840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 152
(S152P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084647]
[ENSMUST00000098084]
[ENSMUST00000130583]
[ENSMUST00000167935]
|
| AlphaFold |
Q8K0L3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084647
AA Change: S152P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: S152P
| 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: S177P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: S177P
| 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
|
| SMART Domains |
Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
57 |
145 |
6.7e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167935
AA Change: S152P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: S152P
| 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
|
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
G |
C |
17: 46,635,185 (GRCm39) |
Q273E |
probably benign |
Het |
| Acly |
C |
T |
11: 100,405,805 (GRCm39) |
R329Q |
probably damaging |
Het |
| Adamtsl4 |
A |
T |
3: 95,588,667 (GRCm39) |
I515N |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Atp9a |
T |
C |
2: 168,481,857 (GRCm39) |
D879G |
probably damaging |
Het |
| Bmp8b |
G |
A |
4: 123,008,369 (GRCm39) |
D112N |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,633,965 (GRCm39) |
W496R |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Cflar |
T |
C |
1: 58,791,551 (GRCm39) |
F285L |
probably benign |
Het |
| Cox16 |
T |
C |
12: 81,519,032 (GRCm39) |
T176A |
probably benign |
Het |
| Cux1 |
G |
T |
5: 136,304,171 (GRCm39) |
A1214D |
probably benign |
Het |
| Cyb5d1 |
C |
A |
11: 69,284,561 (GRCm39) |
|
probably null |
Het |
| Dennd6b |
G |
A |
15: 89,069,225 (GRCm39) |
P575S |
probably damaging |
Het |
| Fbxl2 |
A |
T |
9: 113,814,415 (GRCm39) |
|
probably null |
Het |
| Gfpt2 |
T |
C |
11: 49,717,973 (GRCm39) |
F483L |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
| Invs |
G |
A |
4: 48,396,337 (GRCm39) |
V281M |
probably damaging |
Het |
| Kif13a |
G |
A |
13: 46,905,591 (GRCm39) |
A784V |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,737,557 (GRCm39) |
|
probably benign |
Het |
| Lmod2 |
A |
G |
6: 24,603,888 (GRCm39) |
T288A |
probably damaging |
Het |
| Lrrc37a |
T |
C |
11: 103,391,361 (GRCm39) |
K1355E |
probably benign |
Het |
| Magi3 |
A |
T |
3: 103,922,818 (GRCm39) |
S1300T |
probably benign |
Het |
| Mdm2 |
A |
C |
10: 117,526,517 (GRCm39) |
D307E |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,478,003 (GRCm39) |
Y901C |
probably benign |
Het |
| Mtmr14 |
G |
T |
6: 113,230,768 (GRCm39) |
|
probably null |
Het |
| Mug2 |
A |
T |
6: 122,061,340 (GRCm39) |
Q1420L |
possibly damaging |
Het |
| Net1 |
T |
C |
13: 3,934,320 (GRCm39) |
Q459R |
probably benign |
Het |
| Nle1 |
T |
C |
11: 82,794,008 (GRCm39) |
R343G |
possibly damaging |
Het |
| Npat |
C |
A |
9: 53,481,542 (GRCm39) |
N1083K |
probably benign |
Het |
| Nrp1 |
G |
A |
8: 129,152,396 (GRCm39) |
G202R |
possibly damaging |
Het |
| Nsun4 |
C |
T |
4: 115,908,974 (GRCm39) |
V529I |
possibly damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,236 (GRCm39) |
L82F |
probably damaging |
Het |
| Or4z4 |
T |
A |
19: 12,076,341 (GRCm39) |
I221F |
possibly damaging |
Het |
| Or5b117 |
A |
T |
19: 13,431,332 (GRCm39) |
L183Q |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,924 (GRCm39) |
D269G |
probably benign |
Het |
| Podxl |
A |
T |
6: 31,503,548 (GRCm39) |
N264K |
probably benign |
Het |
| Ptprm |
C |
T |
17: 66,996,353 (GRCm39) |
A1245T |
probably damaging |
Het |
| Rdh12 |
T |
A |
12: 79,257,558 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,760,487 (GRCm39) |
Y1532F |
probably damaging |
Het |
| Senp2 |
T |
C |
16: 21,859,272 (GRCm39) |
F441S |
probably damaging |
Het |
| Snap23 |
C |
A |
2: 120,425,346 (GRCm39) |
P111T |
probably benign |
Het |
| Sox2 |
A |
G |
3: 34,704,938 (GRCm39) |
D125G |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,968,018 (GRCm39) |
W923R |
probably damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,101,022 (GRCm39) |
E656G |
probably damaging |
Het |
| Tbcd |
A |
G |
11: 121,492,838 (GRCm39) |
T892A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,699,142 (GRCm39) |
I24V |
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,964,622 (GRCm39) |
K1372N |
probably damaging |
Het |
| Ubc |
A |
T |
5: 125,464,339 (GRCm39) |
N329K |
probably benign |
Het |
| Vmn2r106 |
T |
A |
17: 20,498,684 (GRCm39) |
H409L |
probably damaging |
Het |
| Wdfy3 |
T |
A |
5: 102,009,314 (GRCm39) |
N2751Y |
possibly damaging |
Het |
| Zfp518a |
T |
A |
19: 40,903,845 (GRCm39) |
I1258K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,756,451 (GRCm39) |
E131G |
probably damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,293,295 (GRCm39) |
R2027W |
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 |
|
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'- CCTTGTGAAGGCAATGGAGG -3'
(R):5'- TTTGGGTGAAAAGCTGGCTAAG -3'
Sequencing Primer
(F):5'- GAAACCCCCATAGAATGTGCTGTTC -3'
(R):5'- GCTGGCTAAGACAAGAGATACTCAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation