Incidental Mutation 'R6903:Acsf2'
| ID |
538650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsf2
|
| Ensembl Gene |
ENSMUSG00000076435 |
| Gene Name |
acyl-CoA synthetase family member 2 |
| Synonyms |
|
| MMRRC Submission |
044996-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6903 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94447928-94492697 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94450417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 497
(M497V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103164]
|
| AlphaFold |
Q8VCW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103164
AA Change: M497V
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099453
Gene: ENSMUSG00000076435
AA Change: M497V
| 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 |
0.4778 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| Abca1 |
A |
T |
4: 53,143,952 (GRCm39) |
L15Q |
probably benign |
Het |
| Adnp2 |
T |
C |
18: 80,173,305 (GRCm39) |
N368S |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,097,131 (GRCm39) |
T656A |
probably benign |
Het |
| Bsph1 |
A |
G |
7: 13,192,183 (GRCm39) |
Y26C |
probably damaging |
Het |
| Cct7 |
T |
C |
6: 85,443,675 (GRCm39) |
F306L |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,543,885 (GRCm39) |
Q143R |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,234,477 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
A |
G |
1: 45,371,148 (GRCm39) |
N436D |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,721,929 (GRCm39) |
E1498G |
probably damaging |
Het |
| Cyp2u1 |
T |
C |
3: 131,096,424 (GRCm39) |
D118G |
probably benign |
Het |
| Dek |
A |
G |
13: 47,251,663 (GRCm39) |
S51P |
possibly damaging |
Het |
| Dock6 |
C |
T |
9: 21,720,860 (GRCm39) |
G1746D |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,621,988 (GRCm39) |
N488Y |
probably damaging |
Het |
| Ebpl |
G |
T |
14: 61,597,693 (GRCm39) |
Y49* |
probably null |
Het |
| Eefsec |
C |
T |
6: 88,423,265 (GRCm39) |
G66D |
probably benign |
Het |
| Epha6 |
T |
A |
16: 60,346,825 (GRCm39) |
Y146F |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,267 (GRCm39) |
R96G |
probably damaging |
Het |
| Gm5814 |
A |
G |
17: 47,721,352 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
C |
G |
16: 75,554,872 (GRCm39) |
V405L |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,797,565 (GRCm39) |
V1079A |
probably damaging |
Het |
| Kcnj9 |
C |
A |
1: 172,153,623 (GRCm39) |
R167L |
probably damaging |
Het |
| Kdm1b |
T |
A |
13: 47,227,880 (GRCm39) |
D620E |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,834,436 (GRCm39) |
R442G |
possibly damaging |
Het |
| Nectin1 |
C |
A |
9: 43,703,179 (GRCm39) |
P146T |
possibly damaging |
Het |
| Noc4l |
A |
G |
5: 110,797,461 (GRCm39) |
I391T |
probably damaging |
Het |
| Npr1 |
C |
A |
3: 90,362,452 (GRCm39) |
R956L |
possibly damaging |
Het |
| Or11g7 |
T |
A |
14: 50,691,412 (GRCm39) |
M301K |
possibly damaging |
Het |
| Or11j4 |
T |
A |
14: 50,631,089 (GRCm39) |
M292K |
possibly damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,825,223 (GRCm39) |
V738A |
possibly damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,336,461 (GRCm39) |
E100G |
probably damaging |
Het |
| Rgs10 |
A |
G |
7: 127,990,797 (GRCm39) |
F97S |
probably damaging |
Het |
| Shisa6 |
T |
C |
11: 66,265,982 (GRCm39) |
|
probably null |
Het |
| Shld1 |
A |
T |
2: 132,592,564 (GRCm39) |
K204* |
probably null |
Het |
| Sirpb1a |
T |
C |
3: 15,481,984 (GRCm39) |
T115A |
probably damaging |
Het |
| Supv3l1 |
A |
G |
10: 62,277,016 (GRCm39) |
C251R |
probably damaging |
Het |
| Svopl |
T |
C |
6: 37,998,543 (GRCm39) |
S244G |
probably benign |
Het |
| Tes |
T |
C |
6: 17,099,862 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tnfrsf22 |
G |
A |
7: 143,193,641 (GRCm39) |
|
probably benign |
Het |
| Vmn1r185 |
A |
G |
7: 26,311,160 (GRCm39) |
I115T |
probably damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,058,552 (GRCm39) |
T703A |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,454,566 (GRCm39) |
I1413L |
unknown |
Het |
| Zc3h12d |
G |
T |
10: 7,743,425 (GRCm39) |
M398I |
probably benign |
Het |
| Zfp219 |
G |
A |
14: 52,244,118 (GRCm39) |
T642M |
probably benign |
Het |
| Zfp646 |
G |
A |
7: 127,479,892 (GRCm39) |
E690K |
possibly damaging |
Het |
| Zfr |
T |
A |
15: 12,136,541 (GRCm39) |
V66D |
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 |
|
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 |
|
|
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'- TAAGACGAACCCCTTCATCAGG -3'
(R):5'- ACGTGATGGGTGCTATACTG -3'
Sequencing Primer
(F):5'- TTCATCAGGCAACCCCGGAG -3'
(R):5'- ATAATTTTCCAGCCTGGCCTGTAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation