Incidental Mutation 'R5439:Acss3'
| ID |
428531 |
| 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 |
043004-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
106769378-106959529 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 106773008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 659
(Y659*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029404]
[ENSMUST00000165067]
[ENSMUST00000217854]
|
| AlphaFold |
Q14DH7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029404
|
| SMART Domains |
Protein: ENSMUSP00000029404
Gene: ENSMUSG00000053825
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
|
coiled coil region
|
32 |
80 |
N/A |
INTRINSIC |
|
coiled coil region
|
102 |
150 |
N/A |
INTRINSIC |
|
coiled coil region
|
189 |
234 |
N/A |
INTRINSIC |
|
coiled coil region
|
267 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
631 |
N/A |
INTRINSIC |
|
coiled coil region
|
643 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
725 |
N/A |
INTRINSIC |
|
SAM
|
895 |
964 |
6.27e-10 |
SMART |
|
low complexity region
|
965 |
977 |
N/A |
INTRINSIC |
|
SAM
|
1017 |
1084 |
1.69e-6 |
SMART |
|
SAM
|
1105 |
1177 |
6.62e-9 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000165067
AA Change: Y659*
|
| SMART Domains |
Protein: ENSMUSP00000128209
Gene: ENSMUSG00000035948
AA Change: Y659*
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219024
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,683 (GRCm39) |
I156N |
probably damaging |
Het |
| Abca1 |
C |
A |
4: 53,042,381 (GRCm39) |
R1897L |
possibly damaging |
Het |
| Ablim2 |
A |
G |
5: 36,015,170 (GRCm39) |
K461E |
probably damaging |
Het |
| Actr8 |
T |
G |
14: 29,708,952 (GRCm39) |
L253R |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,362,281 (GRCm39) |
K915R |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,511,502 (GRCm39) |
E1560G |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,631,333 (GRCm39) |
I1013N |
probably damaging |
Het |
| Cep83 |
G |
A |
10: 94,625,600 (GRCm39) |
R670H |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,332,193 (GRCm39) |
D870V |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,832,298 (GRCm39) |
V164A |
possibly damaging |
Het |
| Dnaaf10 |
A |
G |
11: 17,162,031 (GRCm39) |
D23G |
possibly damaging |
Het |
| Donson |
A |
T |
16: 91,476,814 (GRCm39) |
V549E |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,254,144 (GRCm39) |
G824R |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,292,075 (GRCm39) |
F916S |
probably damaging |
Het |
| Fam110c |
A |
G |
12: 31,124,406 (GRCm39) |
M123V |
unknown |
Het |
| G3bp1 |
A |
T |
11: 55,388,813 (GRCm39) |
I342F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hspb1 |
A |
T |
5: 135,918,186 (GRCm39) |
T178S |
probably benign |
Het |
| Iigp1 |
A |
G |
18: 60,523,329 (GRCm39) |
Y149C |
probably damaging |
Het |
| Il22 |
G |
T |
10: 118,045,366 (GRCm39) |
G159* |
probably null |
Het |
| Jcad |
T |
C |
18: 4,675,790 (GRCm39) |
F1184S |
probably damaging |
Het |
| Kcnj2 |
G |
T |
11: 110,963,057 (GRCm39) |
V150L |
probably damaging |
Het |
| Kifc1 |
C |
T |
17: 34,105,639 (GRCm39) |
R56Q |
probably damaging |
Het |
| Lce1h |
A |
G |
3: 92,671,027 (GRCm39) |
S42P |
unknown |
Het |
| Lrp4 |
C |
A |
2: 91,327,418 (GRCm39) |
D1471E |
probably benign |
Het |
| Lrrc3 |
C |
A |
10: 77,737,299 (GRCm39) |
V46L |
probably benign |
Het |
| Mcf2l |
G |
A |
8: 12,976,646 (GRCm39) |
A2T |
possibly damaging |
Het |
| Med12l |
G |
A |
3: 59,170,634 (GRCm39) |
C1673Y |
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,343,034 (GRCm39) |
E955G |
possibly damaging |
Het |
| Ndufs3 |
T |
A |
2: 90,732,690 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
A |
G |
5: 101,809,698 (GRCm39) |
|
probably null |
Het |
| Obscn |
C |
A |
11: 58,890,954 (GRCm39) |
E1713* |
probably null |
Het |
| Or10ak12 |
G |
A |
4: 118,666,560 (GRCm39) |
T167I |
possibly damaging |
Het |
| Or10g1b |
A |
G |
14: 52,627,582 (GRCm39) |
F216S |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,524,916 (GRCm39) |
T18A |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,917 (GRCm39) |
|
probably null |
Het |
| Or6n1 |
A |
G |
1: 173,917,541 (GRCm39) |
R312G |
probably benign |
Het |
| Or7e165 |
A |
C |
9: 19,695,161 (GRCm39) |
H244P |
probably damaging |
Het |
| Or8c15 |
A |
G |
9: 38,121,050 (GRCm39) |
T234A |
probably benign |
Het |
| Osbpl5 |
A |
G |
7: 143,295,433 (GRCm39) |
F10L |
possibly damaging |
Het |
| Plvap |
A |
C |
8: 71,964,095 (GRCm39) |
I89S |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,259,772 (GRCm39) |
V308A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,540,250 (GRCm39) |
S132G |
probably benign |
Het |
| Pum3 |
G |
T |
19: 27,389,659 (GRCm39) |
Q398K |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,430 (GRCm39) |
T1526A |
probably benign |
Het |
| Sh3tc2 |
T |
A |
18: 62,122,704 (GRCm39) |
Y488* |
probably null |
Het |
| Spmip7 |
A |
T |
11: 11,440,244 (GRCm39) |
R8S |
possibly damaging |
Het |
| Sqle |
A |
G |
15: 59,202,753 (GRCm39) |
Y537C |
probably benign |
Het |
| Sult2a8 |
T |
G |
7: 14,159,439 (GRCm39) |
K60T |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,064,199 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,043,825 (GRCm39) |
|
silent |
Het |
| Timeless |
A |
G |
10: 128,077,604 (GRCm39) |
D228G |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,216,797 (GRCm39) |
|
probably null |
Het |
| Ttc39c |
A |
T |
18: 12,828,428 (GRCm39) |
D196V |
possibly damaging |
Het |
| Wbp4 |
C |
A |
14: 79,709,837 (GRCm39) |
V133L |
possibly damaging |
Het |
| Zfp354c |
G |
T |
11: 50,706,597 (GRCm39) |
D159E |
probably benign |
Het |
| Zfp940 |
C |
A |
7: 29,544,858 (GRCm39) |
D350Y |
probably benign |
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 |
|
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 |
|
R6999:Acss3
|
UTSW |
10 |
106,889,362 (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'- AGTTCCTATGATTAAAGCACGTGG -3'
(R):5'- GGCATTAATTTGGTACTTAACGGC -3'
Sequencing Primer
(F):5'- GTTTTAACCAATGCTTCTTTCTCAAG -3'
(R):5'- TTCTCCCTAGACGTAAATGCATCAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation