Incidental Mutation 'R1252:Acsm2'
| ID |
151801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsm2
|
| Ensembl Gene |
ENSMUSG00000030945 |
| Gene Name |
acyl-CoA synthetase medium-chain family member 2 |
| Synonyms |
|
| MMRRC Submission |
039319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
119153563-119199913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119172468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 104
(H104Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084647]
[ENSMUST00000098084]
[ENSMUST00000130583]
[ENSMUST00000167935]
|
| AlphaFold |
Q8K0L3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084647
AA Change: H104Y
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000081697
Gene: ENSMUSG00000030945
AA Change: H104Y
| 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: H129Y
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000095690
Gene: ENSMUSG00000030945
AA Change: H129Y
| 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: H104Y
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000115048
Gene: ENSMUSG00000030945
AA Change: H104Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
57 |
145 |
6.7e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167935
AA Change: H104Y
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000126670
Gene: ENSMUSG00000030945
AA Change: H104Y
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Adgrb3 |
G |
A |
1: 25,167,909 (GRCm39) |
T1009M |
probably damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,701,877 (GRCm39) |
K755E |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,367,140 (GRCm39) |
D2491E |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,964,077 (GRCm39) |
S1706P |
probably benign |
Het |
| Capn13 |
C |
T |
17: 73,674,222 (GRCm39) |
G77D |
possibly damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,862,444 (GRCm38) |
D370G |
probably benign |
Het |
| Cep135 |
A |
G |
5: 76,741,962 (GRCm39) |
K133E |
possibly damaging |
Het |
| Cyp2c67 |
A |
G |
19: 39,614,585 (GRCm39) |
M314T |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,945,985 (GRCm39) |
D542G |
probably damaging |
Het |
| Dpys |
A |
T |
15: 39,687,636 (GRCm39) |
N387K |
probably damaging |
Het |
| Erc1 |
A |
T |
6: 119,720,353 (GRCm39) |
D749E |
possibly damaging |
Het |
| Gucy2e |
A |
T |
11: 69,126,485 (GRCm39) |
F298L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,239,269 (GRCm39) |
V304A |
probably benign |
Het |
| Kmt2b |
A |
T |
7: 30,279,912 (GRCm39) |
C1363S |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,385,711 (GRCm39) |
Y295H |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,138,019 (GRCm39) |
V396A |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,345,311 (GRCm39) |
D105G |
probably benign |
Het |
| Lrrc45 |
C |
A |
11: 120,606,297 (GRCm39) |
T135N |
probably benign |
Het |
| Ltn1 |
C |
T |
16: 87,212,918 (GRCm39) |
A548T |
probably benign |
Het |
| Nectin2 |
T |
G |
7: 19,451,523 (GRCm39) |
I504L |
probably benign |
Het |
| Nmbr |
T |
C |
10: 14,636,187 (GRCm39) |
I52T |
probably benign |
Het |
| Nop14 |
A |
T |
5: 34,807,899 (GRCm39) |
N354K |
probably benign |
Het |
| Olfm1 |
A |
G |
2: 28,119,447 (GRCm39) |
I361V |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Ovol1 |
T |
C |
19: 5,603,629 (GRCm39) |
T91A |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,760,808 (GRCm39) |
V3E |
possibly damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,420 (GRCm39) |
N4S |
probably benign |
Het |
| Slc23a2 |
A |
T |
2: 131,904,117 (GRCm39) |
|
probably null |
Het |
| Slc66a2 |
A |
G |
18: 80,334,813 (GRCm39) |
T211A |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,403,739 (GRCm39) |
D2640V |
probably damaging |
Het |
| Trip12 |
G |
A |
1: 84,754,071 (GRCm39) |
Q111* |
probably null |
Het |
| Trub2 |
A |
G |
2: 29,672,170 (GRCm39) |
F141S |
probably damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,693,729 (GRCm39) |
|
probably null |
Het |
| Zfp935 |
A |
G |
13: 62,602,355 (GRCm39) |
F282L |
probably damaging |
Het |
| Zfp946 |
G |
T |
17: 22,672,560 (GRCm39) |
|
probably null |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
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 |
|
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 |
|
|
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'- TCCACAGTTCTTCTGATCACCAGGT -3'
(R):5'- TCTGGATGGTCCCAGGCATGAAAA -3'
Sequencing Primer
(F):5'- ACCAGGTCTTCTTTTCCTTCAGG -3'
(R):5'- GGAAGGAAATTGTCTTCTTCTCCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation