Incidental Mutation 'R9671:Acsf2'
| ID |
728059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsf2
|
| Ensembl Gene |
ENSMUSG00000076435 |
| Gene Name |
acyl-CoA synthetase family member 2 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9671 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94447928-94492697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94460802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 368
(D368G)
|
| 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: D368G
PolyPhen 2
Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: D368G
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,948 (GRCm39) |
L228* |
probably null |
Het |
| Adat2 |
T |
A |
10: 13,438,452 (GRCm39) |
N177K |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,760,795 (GRCm39) |
R830M |
probably damaging |
Het |
| Apoh |
G |
A |
11: 108,286,792 (GRCm39) |
W72* |
probably null |
Het |
| Bcl2l12 |
G |
T |
7: 44,642,301 (GRCm39) |
P195Q |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,596,282 (GRCm39) |
M470V |
probably benign |
Het |
| Ccdc188 |
A |
T |
16: 18,036,268 (GRCm39) |
R79* |
probably null |
Het |
| Cd34 |
T |
A |
1: 194,641,501 (GRCm39) |
M309K |
probably damaging |
Het |
| Clec4a2 |
A |
T |
6: 123,101,942 (GRCm39) |
K32N |
possibly damaging |
Het |
| Csmd3 |
G |
T |
15: 47,845,299 (GRCm39) |
P88H |
|
Het |
| Def6 |
A |
G |
17: 28,438,755 (GRCm39) |
S154G |
probably benign |
Het |
| Dot1l |
T |
C |
10: 80,620,613 (GRCm39) |
L530P |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,951,014 (GRCm39) |
|
probably null |
Het |
| Fat3 |
G |
A |
9: 16,286,871 (GRCm39) |
A884V |
possibly damaging |
Het |
| Frem3 |
C |
A |
8: 81,339,134 (GRCm39) |
H476N |
probably benign |
Het |
| Gm3404 |
T |
C |
5: 146,463,031 (GRCm39) |
V71A |
probably benign |
Het |
| Hnf4g |
T |
G |
3: 3,703,273 (GRCm39) |
S53R |
probably benign |
Het |
| Ighv13-2 |
T |
C |
12: 114,321,796 (GRCm39) |
N15D |
probably benign |
Het |
| Jak1 |
T |
C |
4: 101,034,926 (GRCm39) |
K339E |
possibly damaging |
Het |
| Klhl35 |
C |
G |
7: 99,117,702 (GRCm39) |
P82R |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,607,743 (GRCm39) |
V301E |
probably benign |
Het |
| Knl1 |
A |
T |
2: 118,901,089 (GRCm39) |
N930I |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,603,217 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
C |
11: 61,382,498 (GRCm39) |
D68G |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,086,908 (GRCm39) |
H852R |
probably damaging |
Het |
| Or51a6 |
A |
T |
7: 102,604,633 (GRCm39) |
H58Q |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,637,256 (GRCm39) |
D623G |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,719,687 (GRCm39) |
I226S |
probably benign |
Het |
| Rfxank |
T |
C |
8: 70,588,198 (GRCm39) |
T118A |
probably benign |
Het |
| Rxrb |
T |
A |
17: 34,252,020 (GRCm39) |
|
probably null |
Het |
| Sec14l3 |
G |
A |
11: 4,025,486 (GRCm39) |
V337M |
probably damaging |
Het |
| Sema3e |
A |
G |
5: 14,212,217 (GRCm39) |
T98A |
probably benign |
Het |
| Ska1 |
A |
T |
18: 74,333,010 (GRCm39) |
M136K |
probably damaging |
Het |
| Slc19a3 |
T |
C |
1: 83,000,297 (GRCm39) |
D240G |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,331 (GRCm39) |
Y199C |
probably damaging |
Het |
| Sorl1 |
A |
T |
9: 41,943,077 (GRCm39) |
I933N |
possibly damaging |
Het |
| Spag16 |
C |
A |
1: 69,883,495 (GRCm39) |
H75N |
probably benign |
Het |
| Spice1 |
C |
T |
16: 44,199,671 (GRCm39) |
R708C |
probably benign |
Het |
| Tet3 |
C |
A |
6: 83,381,136 (GRCm39) |
S344I |
possibly damaging |
Het |
| Trav5-4 |
A |
G |
14: 53,941,816 (GRCm39) |
E63G |
possibly damaging |
Het |
| Trp73 |
G |
A |
4: 154,148,403 (GRCm39) |
P337L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,778,359 (GRCm39) |
F1343L |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,292,985 (GRCm39) |
H320R |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,317,271 (GRCm39) |
I156V |
probably benign |
Het |
| Wdr81 |
T |
C |
11: 75,345,189 (GRCm39) |
D26G |
probably damaging |
Het |
| Zscan4d |
A |
T |
7: 10,898,945 (GRCm39) |
F111I |
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 |
|
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 |
|
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 |
|
|
R9742:Acsf2
|
UTSW |
11 |
94,463,963 (GRCm39) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCATTCATTCGGGGACAC -3'
(R):5'- AGGCATTGGAAGCCATCAGC -3'
Sequencing Primer
(F):5'- CATTCATTCGGGGACACTTGGAATTG -3'
(R):5'- CTTTCTTTGTGCAGAGGCA -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation