Incidental Mutation 'R8486:Acsf2'
| ID |
657749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsf2
|
| Ensembl Gene |
ENSMUSG00000076435 |
| Gene Name |
acyl-CoA synthetase family member 2 |
| Synonyms |
|
| MMRRC Submission |
067929-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8486 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94447928-94492697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94460786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 373
(D373E)
|
| 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 damaging
Transcript: ENSMUST00000103164
AA Change: D373E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: D373E
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,225,092 (GRCm39) |
S524G |
probably benign |
Het |
| Abca8b |
A |
T |
11: 109,857,937 (GRCm39) |
I546N |
possibly damaging |
Het |
| Abcd4 |
C |
T |
12: 84,650,752 (GRCm39) |
R532H |
probably damaging |
Het |
| Acsm1 |
A |
G |
7: 119,259,880 (GRCm39) |
T510A |
probably damaging |
Het |
| Adam21 |
C |
T |
12: 81,607,550 (GRCm39) |
V71I |
probably benign |
Het |
| Adgra3 |
T |
C |
5: 50,147,621 (GRCm39) |
D473G |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,631,499 (GRCm39) |
V286I |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,344,642 (GRCm39) |
E141G |
probably null |
Het |
| Arhgap21 |
T |
C |
2: 20,865,236 (GRCm39) |
D952G |
probably damaging |
Het |
| Asb4 |
A |
T |
6: 5,390,653 (GRCm39) |
K15N |
possibly damaging |
Het |
| Cert1 |
T |
C |
13: 96,770,690 (GRCm39) |
V533A |
probably damaging |
Het |
| Clip1 |
G |
T |
5: 123,752,770 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
C |
17: 72,170,839 (GRCm39) |
|
probably benign |
Het |
| Cyp2b10 |
T |
C |
7: 25,614,306 (GRCm39) |
V260A |
probably benign |
Het |
| Dnm1 |
C |
T |
2: 32,224,739 (GRCm39) |
M430I |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,242,561 (GRCm39) |
D464G |
probably damaging |
Het |
| Dspp |
A |
G |
5: 104,321,883 (GRCm39) |
|
probably benign |
Het |
| Ephb1 |
A |
C |
9: 101,841,164 (GRCm39) |
D730E |
probably benign |
Het |
| Fancf |
A |
G |
7: 51,511,632 (GRCm39) |
V124A |
probably benign |
Het |
| Fgfr2 |
G |
A |
7: 129,765,745 (GRCm39) |
P692S |
possibly damaging |
Het |
| Fkbp15 |
G |
A |
4: 62,230,521 (GRCm39) |
R731* |
probably null |
Het |
| Fos |
T |
C |
12: 85,522,805 (GRCm39) |
F239S |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,548,092 (GRCm39) |
Y107H |
probably damaging |
Het |
| Gm3159 |
A |
C |
14: 4,400,520 (GRCm38) |
N193T |
probably damaging |
Het |
| Helz2 |
T |
A |
2: 180,871,124 (GRCm39) |
D2771V |
probably damaging |
Het |
| Ighv1-18 |
T |
A |
12: 114,646,325 (GRCm39) |
K92M |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,136,091 (GRCm39) |
Y696C |
probably damaging |
Het |
| Klf15 |
T |
A |
6: 90,444,160 (GRCm39) |
V245D |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,034,637 (GRCm39) |
M122T |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,618,702 (GRCm39) |
L124P |
probably damaging |
Het |
| Mcrs1 |
G |
T |
15: 99,146,349 (GRCm39) |
Y85* |
probably null |
Het |
| Mgst1 |
A |
T |
6: 138,120,026 (GRCm39) |
I29L |
probably benign |
Het |
| Miga1 |
C |
T |
3: 151,982,390 (GRCm39) |
R562H |
probably damaging |
Het |
| Mybpc3 |
T |
C |
2: 90,959,117 (GRCm39) |
W687R |
probably damaging |
Het |
| Myh11 |
G |
T |
16: 14,022,532 (GRCm39) |
A1682D |
possibly damaging |
Het |
| Nes |
T |
C |
3: 87,887,320 (GRCm39) |
S1816P |
probably damaging |
Het |
| Or52p1 |
T |
C |
7: 104,267,069 (GRCm39) |
V69A |
possibly damaging |
Het |
| Or5c1 |
T |
G |
2: 37,222,662 (GRCm39) |
V301G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,410,812 (GRCm39) |
F2773C |
probably damaging |
Het |
| Pkp1 |
C |
G |
1: 135,846,714 (GRCm39) |
E13Q |
probably damaging |
Het |
| Ppp2r2b |
T |
C |
18: 43,031,869 (GRCm39) |
D4G |
probably benign |
Het |
| Ppp6r3 |
G |
A |
19: 3,537,072 (GRCm39) |
H455Y |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,106,657 (GRCm39) |
R202G |
probably benign |
Het |
| Sgcz |
T |
G |
8: 38,190,207 (GRCm39) |
K106N |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,247,304 (GRCm39) |
Y572C |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 76,088,881 (GRCm39) |
Q5080* |
probably null |
Het |
| Tpst2 |
C |
T |
5: 112,456,171 (GRCm39) |
Q5* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,561,877 (GRCm39) |
T28908S |
possibly damaging |
Het |
| Vmn1r120 |
C |
T |
7: 20,787,027 (GRCm39) |
R228H |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,370 (GRCm39) |
N105S |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,979,829 (GRCm39) |
T195A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 73,974,909 (GRCm39) |
S484T |
probably benign |
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 |
|
R8231:Acsf2
|
UTSW |
11 |
94,452,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8355:Acsf2
|
UTSW |
11 |
94,461,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TCCACCTACTCCTGTAAAGGGG -3'
(R):5'- CACAGTTTTGGCCCTCATTG -3'
Sequencing Primer
(F):5'- CGTAAAAGCTGAGGTTGGCCC -3'
(R):5'- GCCCTCATTGAGAGTTCATGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation