Incidental Mutation 'R6999:Acss3'
| ID |
544406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acss3
|
| Ensembl Gene |
ENSMUSG00000035948 |
| Gene Name |
acyl-CoA synthetase short-chain family member 3 |
| Synonyms |
LOC380660, 8430416H19Rik |
| MMRRC Submission |
045104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R6999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106889362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 153
(G153C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044668]
[ENSMUST00000165067]
|
| AlphaFold |
Q14DH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044668
AA Change: G153C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040823
Gene: ENSMUSG00000035948
AA Change: G153C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
112 |
496 |
4.6e-67 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165067
AA Change: G153C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: G153C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ACAS_N
|
57 |
111 |
8.8e-22 |
PFAM |
|
Pfam:AMP-binding
|
113 |
557 |
3.2e-81 |
PFAM |
|
Pfam:AMP-binding_C
|
565 |
644 |
2.2e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,356,321 (GRCm39) |
Q629* |
probably null |
Het |
| Alpk2 |
A |
G |
18: 65,437,584 (GRCm39) |
S1270P |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,669,106 (GRCm39) |
L215Q |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,823,459 (GRCm39) |
S188P |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,078,875 (GRCm39) |
M316T |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,990,632 (GRCm39) |
S1707P |
probably benign |
Het |
| C2cd4b |
C |
T |
9: 67,667,571 (GRCm39) |
A189V |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,922,321 (GRCm39) |
R556H |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,733 (GRCm39) |
D101G |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,458,891 (GRCm39) |
I1085F |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,821,092 (GRCm39) |
E151G |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,402 (GRCm39) |
T370A |
probably benign |
Het |
| Chrnb2 |
C |
T |
3: 89,668,622 (GRCm39) |
R231H |
possibly damaging |
Het |
| Crisp4 |
T |
A |
1: 18,207,259 (GRCm39) |
I10F |
possibly damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,933 (GRCm39) |
H477L |
unknown |
Het |
| Ctu1 |
T |
A |
7: 43,324,662 (GRCm39) |
F34I |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,168,263 (GRCm39) |
S407T |
possibly damaging |
Het |
| Ech1 |
T |
C |
7: 28,529,689 (GRCm39) |
F191L |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,684,064 (GRCm39) |
D60G |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,533 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Eppk1 |
A |
T |
15: 75,993,423 (GRCm39) |
W1153R |
probably benign |
Het |
| Fbxo4 |
C |
T |
15: 4,007,437 (GRCm39) |
D76N |
probably damaging |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Gemin5 |
C |
T |
11: 58,015,947 (GRCm39) |
R1352Q |
probably benign |
Het |
| Gm9639 |
T |
C |
10: 77,630,525 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
C |
A |
1: 59,673,251 (GRCm39) |
Q160K |
unknown |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 64,053,893 (GRCm39) |
Q364L |
possibly damaging |
Het |
| Kcnn2 |
T |
G |
18: 45,725,444 (GRCm39) |
S313R |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,444,814 (GRCm39) |
Y58H |
probably damaging |
Het |
| Meiosin |
A |
G |
7: 18,836,300 (GRCm39) |
|
probably benign |
Het |
| Mtfr2 |
T |
C |
10: 20,229,862 (GRCm39) |
L105P |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,134,531 (GRCm39) |
T445A |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,239 (GRCm39) |
R133G |
possibly damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,535 (GRCm39) |
L164Q |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,329 (GRCm39) |
L16P |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,171 (GRCm39) |
Y416H |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,223,342 (GRCm39) |
Y304C |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,797,475 (GRCm39) |
I2605T |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,117,085 (GRCm39) |
|
probably null |
Het |
| Ppa1 |
G |
A |
10: 61,496,796 (GRCm39) |
G95S |
probably damaging |
Het |
| Rapgef4 |
G |
T |
2: 72,069,469 (GRCm39) |
A730S |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,213,715 (GRCm39) |
Y1226C |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,512,453 (GRCm39) |
T197S |
probably benign |
Het |
| Slc2a6 |
GCTTCC |
GC |
2: 26,916,047 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
C |
12: 81,361,529 (GRCm39) |
Y430C |
probably benign |
Het |
| Tead3 |
T |
C |
17: 28,560,506 (GRCm39) |
T33A |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,088,162 (GRCm39) |
I792F |
possibly damaging |
Het |
| Trpm2 |
A |
T |
10: 77,771,725 (GRCm39) |
I638N |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,193 (GRCm39) |
D218G |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,022,778 (GRCm39) |
W495R |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,943,382 (GRCm39) |
L823P |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,272 (GRCm39) |
N186S |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,218,097 (GRCm39) |
A1228V |
probably damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,482,127 (GRCm39) |
F151I |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,219 (GRCm39) |
K356N |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,710,969 (GRCm39) |
N897K |
probably damaging |
Het |
|
| Other mutations in Acss3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00781:Acss3
|
APN |
10 |
106,801,887 (GRCm39) |
missense |
probably benign |
|
|
IGL00941:Acss3
|
APN |
10 |
106,889,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00983:Acss3
|
APN |
10 |
106,802,825 (GRCm39) |
nonsense |
probably null |
|
|
IGL01010:Acss3
|
APN |
10 |
106,859,710 (GRCm39) |
splice site |
probably benign |
|
|
IGL02227:Acss3
|
APN |
10 |
106,881,196 (GRCm39) |
missense |
probably benign |
|
|
IGL02296:Acss3
|
APN |
10 |
106,889,312 (GRCm39) |
nonsense |
probably null |
|
|
IGL02319:Acss3
|
APN |
10 |
106,784,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03181:Acss3
|
APN |
10 |
106,889,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Acss3
|
UTSW |
10 |
106,959,156 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0032:Acss3
|
UTSW |
10 |
106,959,156 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0279:Acss3
|
UTSW |
10 |
106,920,732 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0418:Acss3
|
UTSW |
10 |
106,859,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0550:Acss3
|
UTSW |
10 |
106,889,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1114:Acss3
|
UTSW |
10 |
106,824,740 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1491:Acss3
|
UTSW |
10 |
106,773,169 (GRCm39) |
missense |
probably benign |
|
|
R1625:Acss3
|
UTSW |
10 |
106,773,263 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1771:Acss3
|
UTSW |
10 |
106,773,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Acss3
|
UTSW |
10 |
106,772,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2006:Acss3
|
UTSW |
10 |
106,798,871 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2018:Acss3
|
UTSW |
10 |
106,772,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2019:Acss3
|
UTSW |
10 |
106,772,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2078:Acss3
|
UTSW |
10 |
106,802,902 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2253:Acss3
|
UTSW |
10 |
106,840,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2391:Acss3
|
UTSW |
10 |
106,959,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3082:Acss3
|
UTSW |
10 |
106,859,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3083:Acss3
|
UTSW |
10 |
106,859,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4072:Acss3
|
UTSW |
10 |
106,959,446 (GRCm39) |
unclassified |
probably benign |
|
|
R4086:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4087:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4089:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4090:Acss3
|
UTSW |
10 |
106,889,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4406:Acss3
|
UTSW |
10 |
106,889,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4607:Acss3
|
UTSW |
10 |
106,802,890 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4608:Acss3
|
UTSW |
10 |
106,802,890 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4790:Acss3
|
UTSW |
10 |
106,859,563 (GRCm39) |
nonsense |
probably null |
|
|
R4834:Acss3
|
UTSW |
10 |
106,920,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5130:Acss3
|
UTSW |
10 |
106,840,586 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5303:Acss3
|
UTSW |
10 |
106,920,712 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5365:Acss3
|
UTSW |
10 |
106,840,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Acss3
|
UTSW |
10 |
106,773,008 (GRCm39) |
nonsense |
probably null |
|
|
R5617:Acss3
|
UTSW |
10 |
106,787,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5698:Acss3
|
UTSW |
10 |
106,784,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Acss3
|
UTSW |
10 |
106,959,183 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6154:Acss3
|
UTSW |
10 |
106,959,210 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6298:Acss3
|
UTSW |
10 |
106,920,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6592:Acss3
|
UTSW |
10 |
106,859,579 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6707:Acss3
|
UTSW |
10 |
106,920,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Acss3
|
UTSW |
10 |
106,959,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8351:Acss3
|
UTSW |
10 |
106,885,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8451:Acss3
|
UTSW |
10 |
106,885,265 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8515:Acss3
|
UTSW |
10 |
106,784,524 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8917:Acss3
|
UTSW |
10 |
106,773,124 (GRCm39) |
missense |
probably benign |
|
|
R8972:Acss3
|
UTSW |
10 |
106,920,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Acss3
|
UTSW |
10 |
106,959,282 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9387:Acss3
|
UTSW |
10 |
106,959,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9801:Acss3
|
UTSW |
10 |
106,881,091 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0027:Acss3
|
UTSW |
10 |
106,959,205 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1177:Acss3
|
UTSW |
10 |
106,840,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACTTACCTTCGCATGATC -3'
(R):5'- CCAGTGATGGCAAACCTCATAC -3'
Sequencing Primer
(F):5'- CAATGCGCGTACTTAATTCTTTGG -3'
(R):5'- AGTAGAGAGACACCATTGTTACC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation