Incidental Mutation 'R8231:Acsf2'
| ID |
637152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsf2
|
| Ensembl Gene |
ENSMUSG00000076435 |
| Gene Name |
acyl-CoA synthetase family member 2 |
| Synonyms |
|
| MMRRC Submission |
067663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94447928-94492697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 94452188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 451
(E451D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040418]
[ENSMUST00000103164]
|
| AlphaFold |
Q8VCW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040418
|
| SMART Domains |
Protein: ENSMUSP00000047844
Gene: ENSMUSG00000039084
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
LRRNT
|
21 |
54 |
1.7e-7 |
SMART |
|
LRR_TYP
|
73 |
96 |
9.58e-3 |
SMART |
|
LRR_TYP
|
97 |
120 |
1.45e-2 |
SMART |
|
LRR_TYP
|
121 |
144 |
1.69e-3 |
SMART |
|
LRR_TYP
|
145 |
168 |
6.42e-4 |
SMART |
|
LRR
|
170 |
192 |
2.2e1 |
SMART |
|
LRR
|
193 |
216 |
2.14e1 |
SMART |
|
LRR_TYP
|
217 |
240 |
4.17e-3 |
SMART |
|
LRR
|
245 |
265 |
2.27e2 |
SMART |
|
LRR
|
266 |
289 |
3.36e1 |
SMART |
|
LRRCT
|
299 |
346 |
1.1e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103164
AA Change: E451D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: E451D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
78 |
516 |
3.9e-100 |
PFAM |
|
Pfam:AMP-binding_C
|
524 |
599 |
1.7e-20 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
T |
17: 85,000,213 (GRCm39) |
R258C |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,659 (GRCm39) |
S329T |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,925,599 (GRCm39) |
I535T |
probably damaging |
Het |
| Atp6v0d2 |
A |
G |
4: 19,881,451 (GRCm39) |
F214S |
probably damaging |
Het |
| Btg4 |
A |
G |
9: 51,027,868 (GRCm39) |
T13A |
possibly damaging |
Het |
| Ccdc121 |
T |
A |
5: 31,643,551 (GRCm39) |
C94S |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,248,511 (GRCm39) |
Y1687H |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,747,939 (GRCm39) |
S271T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,831,427 (GRCm39) |
T1596A |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,012,362 (GRCm39) |
D382N |
probably benign |
Het |
| Dbh |
C |
T |
2: 27,060,555 (GRCm39) |
R244C |
probably benign |
Het |
| Dennd11 |
A |
T |
6: 40,395,546 (GRCm39) |
H187Q |
probably benign |
Het |
| Dnajc2 |
T |
C |
5: 21,966,689 (GRCm39) |
K426R |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,752,950 (GRCm39) |
M428K |
possibly damaging |
Het |
| Duox2 |
A |
T |
2: 122,120,044 (GRCm39) |
M822K |
possibly damaging |
Het |
| Golga5 |
T |
C |
12: 102,438,558 (GRCm39) |
V91A |
probably benign |
Het |
| Gpatch2l |
T |
C |
12: 86,290,963 (GRCm39) |
S49P |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,328,465 (GRCm39) |
L246* |
probably null |
Het |
| Kntc1 |
A |
G |
5: 123,920,959 (GRCm39) |
T926A |
possibly damaging |
Het |
| Kyat1 |
T |
C |
2: 30,081,978 (GRCm39) |
T54A |
probably benign |
Het |
| Megf6 |
C |
G |
4: 154,336,975 (GRCm39) |
C359W |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,307,572 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,125,491 (GRCm39) |
|
probably null |
Het |
| Nyap2 |
A |
T |
1: 81,169,846 (GRCm39) |
Q201L |
probably benign |
Het |
| Pibf1 |
T |
G |
14: 99,423,997 (GRCm39) |
H523Q |
probably benign |
Het |
| Piezo1 |
A |
G |
8: 123,232,836 (GRCm39) |
S133P |
|
Het |
| Pnma8b |
T |
C |
7: 16,680,515 (GRCm39) |
C500R |
probably benign |
Het |
| Ptpra |
A |
G |
2: 130,379,523 (GRCm39) |
N359S |
probably damaging |
Het |
| Rce1 |
A |
T |
19: 4,675,078 (GRCm39) |
I112N |
probably damaging |
Het |
| Rmdn1 |
T |
C |
4: 19,586,853 (GRCm39) |
Y104H |
probably benign |
Het |
| Snx22 |
A |
T |
9: 65,975,480 (GRCm39) |
D96E |
probably benign |
Het |
| Sox5 |
G |
T |
6: 143,974,014 (GRCm39) |
Q245K |
probably damaging |
Het |
| Stat6 |
A |
G |
10: 127,482,842 (GRCm39) |
D21G |
possibly damaging |
Het |
| Tbc1d15 |
T |
C |
10: 115,065,045 (GRCm39) |
Y180C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,933,026 (GRCm39) |
T2058A |
probably damaging |
Het |
| Thbs4 |
A |
T |
13: 92,911,352 (GRCm39) |
V277E |
probably benign |
Het |
| Tmem255b |
A |
G |
8: 13,504,225 (GRCm39) |
D139G |
probably damaging |
Het |
| Ttc27 |
C |
A |
17: 75,024,959 (GRCm39) |
T18K |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,237,348 (GRCm39) |
F337L |
probably damaging |
Het |
|
| Other mutations in Acsf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01123:Acsf2
|
APN |
11 |
94,461,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02218:Acsf2
|
APN |
11 |
94,492,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02602:Acsf2
|
APN |
11 |
94,461,291 (GRCm39) |
splice site |
probably benign |
|
|
Citrus
|
UTSW |
11 |
94,462,476 (GRCm39) |
missense |
probably benign |
0.11 |
|
Cocktail
|
UTSW |
11 |
94,461,211 (GRCm39) |
missense |
probably benign |
0.06 |
|
limonene
|
UTSW |
11 |
94,453,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0047:Acsf2
|
UTSW |
11 |
94,460,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0194:Acsf2
|
UTSW |
11 |
94,452,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1400:Acsf2
|
UTSW |
11 |
94,461,142 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1403:Acsf2
|
UTSW |
11 |
94,453,700 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1403:Acsf2
|
UTSW |
11 |
94,453,700 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1512:Acsf2
|
UTSW |
11 |
94,452,224 (GRCm39) |
splice site |
probably benign |
|
|
R2007:Acsf2
|
UTSW |
11 |
94,462,466 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2271:Acsf2
|
UTSW |
11 |
94,449,699 (GRCm39) |
nonsense |
probably null |
|
|
R3610:Acsf2
|
UTSW |
11 |
94,452,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4447:Acsf2
|
UTSW |
11 |
94,460,185 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4717:Acsf2
|
UTSW |
11 |
94,450,372 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4857:Acsf2
|
UTSW |
11 |
94,460,164 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4974:Acsf2
|
UTSW |
11 |
94,460,155 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5090:Acsf2
|
UTSW |
11 |
94,462,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5185:Acsf2
|
UTSW |
11 |
94,453,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5732:Acsf2
|
UTSW |
11 |
94,460,768 (GRCm39) |
unclassified |
probably benign |
|
|
R5797:Acsf2
|
UTSW |
11 |
94,462,505 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5872:Acsf2
|
UTSW |
11 |
94,463,975 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6350:Acsf2
|
UTSW |
11 |
94,449,156 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6903:Acsf2
|
UTSW |
11 |
94,450,417 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6912:Acsf2
|
UTSW |
11 |
94,461,206 (GRCm39) |
missense |
probably benign |
|
|
R7336:Acsf2
|
UTSW |
11 |
94,462,476 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7531:Acsf2
|
UTSW |
11 |
94,464,057 (GRCm39) |
splice site |
probably null |
|
|
R8026:Acsf2
|
UTSW |
11 |
94,453,714 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8355:Acsf2
|
UTSW |
11 |
94,461,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8486:Acsf2
|
UTSW |
11 |
94,460,786 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8525:Acsf2
|
UTSW |
11 |
94,463,446 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8956:Acsf2
|
UTSW |
11 |
94,461,211 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9288:Acsf2
|
UTSW |
11 |
94,464,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9481:Acsf2
|
UTSW |
11 |
94,464,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9564:Acsf2
|
UTSW |
11 |
94,463,891 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9620:Acsf2
|
UTSW |
11 |
94,463,412 (GRCm39) |
nonsense |
probably null |
|
|
R9671:Acsf2
|
UTSW |
11 |
94,460,802 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9742:Acsf2
|
UTSW |
11 |
94,463,963 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGTCTCATGGTCAAGGGG -3'
(R):5'- AGCAGCTTCATTTCTGAGAGG -3'
Sequencing Primer
(F):5'- TCTCATGGTCAAGGGGGATCC -3'
(R):5'- CAGCTTCATTTCTGAGAGGGTGAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation