Incidental Mutation 'R9507:Acsm2'
| ID |
717878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm2
|
| Ensembl Gene |
ENSMUSG00000030945 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9507 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119153563-119199913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 119179939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 386
(I386F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084647]
[ENSMUST00000098084]
[ENSMUST00000130583]
[ENSMUST00000167935]
[ENSMUST00000208019]
|
| AlphaFold |
Q8K0L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084647
AA Change: I361F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: I361F
| 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: I386F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: I386F
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118174
Gene: ENSMUSG00000030945
AA Change: I38F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
1 |
144 |
5.1e-33 |
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 benign
Transcript: ENSMUST00000167935
AA Change: I361F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: I361F
| 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: ENSMUST00000208019
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
A |
G |
19: 8,866,587 (GRCm39) |
T47A |
probably damaging |
Het |
| Actn4 |
A |
T |
7: 28,606,397 (GRCm39) |
D305E |
probably benign |
Het |
| Anln |
A |
G |
9: 22,274,136 (GRCm39) |
V567A |
probably damaging |
Het |
| Arhgap35 |
A |
G |
7: 16,297,343 (GRCm39) |
I574T |
probably benign |
Het |
| Baz1b |
C |
A |
5: 135,233,971 (GRCm39) |
S166Y |
probably damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,764,192 (GRCm39) |
L551P |
probably damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,210,110 (GRCm39) |
T713A |
probably benign |
Het |
| Cep290 |
C |
A |
10: 100,330,785 (GRCm39) |
A155E |
possibly damaging |
Het |
| Chst8 |
G |
A |
7: 34,447,496 (GRCm39) |
Q41* |
probably null |
Het |
| Cyp2j6 |
C |
A |
4: 96,406,344 (GRCm39) |
E476* |
probably null |
Het |
| Des |
T |
C |
1: 75,343,434 (GRCm39) |
V439A |
probably benign |
Het |
| Dimt1 |
A |
G |
13: 107,093,656 (GRCm39) |
T283A |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,024,567 (GRCm39) |
V1747D |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,064,694 (GRCm39) |
R137* |
probably null |
Het |
| Gab2 |
A |
T |
7: 96,953,448 (GRCm39) |
D608V |
probably damaging |
Het |
| Gdpd1 |
T |
C |
11: 86,950,264 (GRCm39) |
D103G |
possibly damaging |
Het |
| Hspa5 |
T |
C |
2: 34,664,610 (GRCm39) |
S355P |
probably benign |
Het |
| Ide |
A |
T |
19: 37,265,536 (GRCm39) |
F619L |
|
Het |
| Ifrd1 |
A |
C |
12: 40,267,225 (GRCm39) |
D70E |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,513,884 (GRCm39) |
V30E |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcng1 |
A |
G |
2: 168,111,152 (GRCm39) |
L4S |
probably damaging |
Het |
| Lrfn4 |
A |
G |
19: 4,664,357 (GRCm39) |
F59S |
probably damaging |
Het |
| Lrrc15 |
T |
C |
16: 30,092,829 (GRCm39) |
D170G |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,536 (GRCm39) |
M237L |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,102,049 (GRCm39) |
K810E |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,573,011 (GRCm39) |
D2524G |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nutm2 |
A |
T |
13: 50,621,455 (GRCm39) |
T7S |
probably benign |
Het |
| Or10g3b |
A |
T |
14: 52,586,678 (GRCm39) |
L275H |
probably damaging |
Het |
| Or2a5 |
G |
T |
6: 42,873,835 (GRCm39) |
C150F |
probably benign |
Het |
| Or2t49 |
T |
C |
11: 58,392,576 (GRCm39) |
T275A |
possibly damaging |
Het |
| Or51q1 |
T |
G |
7: 103,629,198 (GRCm39) |
F266L |
probably damaging |
Het |
| Or6k2 |
T |
A |
1: 173,986,552 (GRCm39) |
I71K |
possibly damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,597 (GRCm39) |
H197R |
probably benign |
Het |
| Pate4 |
A |
G |
9: 35,519,538 (GRCm39) |
S51P |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,265,232 (GRCm39) |
|
probably null |
Het |
| Rnf139 |
A |
G |
15: 58,770,664 (GRCm39) |
K230E |
probably damaging |
Het |
| Rpia |
G |
A |
6: 70,754,377 (GRCm39) |
Q134* |
probably null |
Het |
| Rsf1 |
GC |
GCGGCGGCGCC |
7: 97,229,141 (GRCm39) |
|
probably benign |
Het |
| Sbk2 |
G |
A |
7: 4,960,277 (GRCm39) |
P298S |
possibly damaging |
Het |
| Scrt1 |
A |
G |
15: 76,403,292 (GRCm39) |
S233P |
unknown |
Het |
| Sh2b1 |
CGGGGACCAGCTC |
CGGGGACCAGCTCAGCCAAGGGGACCAGCTC |
7: 126,066,760 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
T |
A |
11: 104,078,153 (GRCm39) |
Y318N |
probably benign |
Het |
| St6galnac4 |
G |
A |
2: 32,485,739 (GRCm39) |
W215* |
probably null |
Het |
| Stxbp6 |
A |
G |
12: 45,066,360 (GRCm39) |
L15P |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,091,699 (GRCm39) |
L74P |
probably damaging |
Het |
| Tnfrsf10b |
A |
G |
14: 70,015,221 (GRCm39) |
D233G |
probably benign |
Het |
| Trmt11 |
A |
C |
10: 30,434,938 (GRCm39) |
Y369* |
probably null |
Het |
| Tusc1 |
T |
A |
4: 93,223,245 (GRCm39) |
H138L |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,596,937 (GRCm39) |
Y3892* |
probably null |
Het |
| Xirp2 |
A |
T |
2: 67,344,280 (GRCm39) |
I2174F |
possibly damaging |
Het |
| Zfp947 |
C |
T |
17: 22,364,582 (GRCm39) |
G364D |
probably benign |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2022-07-18 |
Incidental Mutation