Incidental Mutation 'R8355:Acsf2'
| ID |
660295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsf2
|
| Ensembl Gene |
ENSMUSG00000076435 |
| Gene Name |
acyl-CoA synthetase family member 2 |
| Synonyms |
|
| MMRRC Submission |
067869-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8355 (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 94461450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 293
(M293K)
|
| 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: M293K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: M293K
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| 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 |
|---|
| Abcc9 |
A |
T |
6: 142,638,478 (GRCm39) |
H145Q |
probably benign |
Het |
| Ak9 |
G |
A |
10: 41,275,700 (GRCm39) |
R1112Q |
|
Het |
| Ano8 |
T |
C |
8: 71,933,210 (GRCm39) |
|
probably benign |
Het |
| Ap3b2 |
A |
T |
7: 81,122,851 (GRCm39) |
V462E |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,448,174 (GRCm39) |
Q498R |
unknown |
Het |
| AW011738 |
C |
A |
4: 156,287,837 (GRCm39) |
|
probably benign |
Het |
| Bhlhe41 |
T |
A |
6: 145,811,028 (GRCm39) |
|
probably null |
Het |
| Bnc1 |
A |
C |
7: 81,618,624 (GRCm39) |
S814A |
probably damaging |
Het |
| Bnip5 |
T |
A |
17: 29,122,249 (GRCm39) |
Q414L |
probably damaging |
Het |
| Cage1 |
A |
T |
13: 38,203,225 (GRCm39) |
L613H |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,033,355 (GRCm39) |
I231V |
probably damaging |
Het |
| Catspere2 |
T |
C |
1: 177,845,276 (GRCm39) |
Y99H |
possibly damaging |
Het |
| Ccdc50 |
A |
G |
16: 27,236,101 (GRCm39) |
Y145C |
probably benign |
Het |
| Cdcp1 |
A |
G |
9: 123,002,888 (GRCm39) |
S728P |
probably benign |
Het |
| Chrm3 |
A |
T |
13: 9,928,646 (GRCm39) |
M130K |
probably damaging |
Het |
| Csf1r |
T |
C |
18: 61,261,222 (GRCm39) |
F766S |
probably damaging |
Het |
| Dact3 |
A |
G |
7: 16,617,125 (GRCm39) |
D108G |
probably damaging |
Het |
| Dnaaf5 |
ACCCAGCACCTGGAGATCGTCC |
ACC |
5: 139,147,614 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
C |
17: 30,914,152 (GRCm39) |
L1099F |
possibly damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,728,815 (GRCm39) |
|
probably null |
Het |
| Gk5 |
T |
C |
9: 96,032,839 (GRCm39) |
V274A |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,597,579 (GRCm39) |
F47S |
probably benign |
Het |
| Gsap |
G |
T |
5: 21,456,017 (GRCm39) |
G374* |
probably null |
Het |
| Gtf2h2 |
A |
T |
13: 100,605,503 (GRCm39) |
F368Y |
possibly damaging |
Het |
| Gvin1 |
A |
T |
7: 105,757,312 (GRCm39) |
W2386R |
possibly damaging |
Het |
| Ighe |
A |
T |
12: 113,235,167 (GRCm39) |
L331* |
probably null |
Het |
| Iqank1 |
C |
A |
15: 75,906,073 (GRCm39) |
Q87K |
probably benign |
Het |
| Itch |
T |
A |
2: 155,052,502 (GRCm39) |
|
probably null |
Het |
| Lars2 |
G |
A |
9: 123,283,780 (GRCm39) |
A683T |
probably damaging |
Het |
| Lin7a |
C |
T |
10: 107,218,497 (GRCm39) |
R14C |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,346,828 (GRCm39) |
S806N |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,284,018 (GRCm39) |
M81K |
probably benign |
Het |
| Mcm3ap |
C |
A |
10: 76,329,335 (GRCm39) |
T1172K |
probably benign |
Het |
| Mrm3 |
A |
T |
11: 76,141,164 (GRCm39) |
M391L |
possibly damaging |
Het |
| Myo9a |
T |
C |
9: 59,817,130 (GRCm39) |
S2278P |
probably damaging |
Het |
| Ncln |
T |
C |
10: 81,323,703 (GRCm39) |
K511E |
probably damaging |
Het |
| Or2y17 |
G |
T |
11: 49,231,592 (GRCm39) |
V78L |
possibly damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,258 (GRCm39) |
K87R |
probably benign |
Het |
| Pcdhb10 |
G |
T |
18: 37,545,134 (GRCm39) |
G70V |
probably damaging |
Het |
| Phf24 |
A |
G |
4: 42,933,735 (GRCm39) |
E39G |
probably benign |
Het |
| Plat |
C |
A |
8: 23,261,758 (GRCm39) |
S52* |
probably null |
Het |
| Pramel52-ps |
T |
C |
5: 94,531,772 (GRCm39) |
C219R |
probably damaging |
Het |
| Ptpru |
C |
A |
4: 131,535,811 (GRCm39) |
G389C |
probably damaging |
Het |
| Rnpep |
T |
C |
1: 135,195,005 (GRCm39) |
D407G |
probably damaging |
Het |
| Rttn |
G |
A |
18: 89,047,016 (GRCm39) |
V893I |
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,634,473 (GRCm39) |
L428P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,652,229 (GRCm39) |
L1596F |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,523,616 (GRCm39) |
C140R |
probably damaging |
Het |
| Usp17le |
A |
T |
7: 104,418,752 (GRCm39) |
M130K |
possibly damaging |
Het |
| Vmn2r92 |
T |
G |
17: 18,405,061 (GRCm39) |
I735S |
probably damaging |
Het |
| Zbtb42 |
A |
T |
12: 112,645,969 (GRCm39) |
Y48F |
probably damaging |
Het |
| Zbtb43 |
C |
T |
2: 33,345,120 (GRCm39) |
G35D |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,876 (GRCm39) |
C189S |
unknown |
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 |
|
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'- TGCAGTCTGGAGATGGAGAC -3'
(R):5'- CTCATTGTGCATAAACAAAAGGAGG -3'
Sequencing Primer
(F):5'- ACAGGAGGCTGGGTCTATC -3'
(R):5'- TGGACTCGGGACAACCATATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation