Incidental Mutation 'R8122:Acsbg3'
| ID |
631577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsbg3
|
| Ensembl Gene |
ENSMUSG00000024209 |
| Gene Name |
acyl-CoA synthetase bubblegum family member 3 |
| Synonyms |
1700061G19Rik |
| MMRRC Submission |
067551-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R8122 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57182477-57195904 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57193670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 672
(V672E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025048]
|
| AlphaFold |
Q08EE8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025048
AA Change: V672E
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000025048
Gene: ENSMUSG00000024209
AA Change: V672E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
80 |
554 |
6.5e-68 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.0%
- 20x: 97.5%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,433,761 (GRCm39) |
Y426C |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,742,510 (GRCm39) |
S521G |
possibly damaging |
Het |
| Amer2 |
A |
T |
14: 60,616,791 (GRCm39) |
M329L |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,761,293 (GRCm39) |
N1048S |
probably damaging |
Het |
| Asah1 |
T |
C |
8: 41,796,767 (GRCm39) |
E305G |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,510,665 (GRCm39) |
K223N |
probably damaging |
Het |
| Bptf |
C |
A |
11: 106,927,417 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
T |
C |
15: 78,411,446 (GRCm39) |
N77D |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,674,205 (GRCm39) |
I83F |
probably damaging |
Het |
| Cd6 |
A |
G |
19: 10,770,231 (GRCm39) |
F487L |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,107,069 (GRCm39) |
V1067A |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,455,442 (GRCm39) |
D496V |
|
Het |
| Csrnp1 |
T |
C |
9: 119,802,273 (GRCm39) |
D262G |
probably damaging |
Het |
| Cyp2d11 |
T |
A |
15: 82,276,744 (GRCm39) |
Q65L |
probably benign |
Het |
| Dbt |
T |
A |
3: 116,313,891 (GRCm39) |
C19* |
probably null |
Het |
| Dgkg |
A |
C |
16: 22,385,295 (GRCm39) |
|
probably null |
Het |
| Eif4g2 |
T |
C |
7: 110,677,760 (GRCm39) |
I118V |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Gpr158 |
A |
T |
2: 21,831,674 (GRCm39) |
M925L |
probably benign |
Het |
| Kcnn2 |
T |
G |
18: 45,810,005 (GRCm39) |
V414G |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 26,930,592 (GRCm39) |
H2055Y |
possibly damaging |
Het |
| Loxl3 |
T |
A |
6: 83,026,240 (GRCm39) |
W443R |
probably damaging |
Het |
| Mab21l1 |
A |
T |
3: 55,690,905 (GRCm39) |
D164V |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
| Or2y1f |
C |
A |
11: 49,184,401 (GRCm39) |
N84K |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,822 (GRCm39) |
S67P |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,632,682 (GRCm39) |
E578K |
probably damaging |
Het |
| Pld2 |
T |
A |
11: 70,432,259 (GRCm39) |
L126* |
probably null |
Het |
| Polk |
A |
T |
13: 96,620,291 (GRCm39) |
N716K |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,170,295 (GRCm39) |
K669E |
probably benign |
Het |
| Sag |
A |
G |
1: 87,762,289 (GRCm39) |
D318G |
probably damaging |
Het |
| Scfd1 |
T |
A |
12: 51,480,052 (GRCm39) |
V528E |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,221,157 (GRCm39) |
L834P |
probably benign |
Het |
| Shank1 |
G |
T |
7: 43,983,015 (GRCm39) |
G637V |
unknown |
Het |
| Slc12a6 |
A |
G |
2: 112,097,167 (GRCm39) |
M1V |
probably null |
Het |
| St6gal1 |
A |
G |
16: 23,173,644 (GRCm39) |
K242R |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,045,153 (GRCm39) |
Y495C |
probably damaging |
Het |
| Taar8c |
C |
T |
10: 23,977,107 (GRCm39) |
S235N |
probably benign |
Het |
| Tmem183a |
A |
T |
1: 134,282,503 (GRCm39) |
C201S |
probably benign |
Het |
| Top2a |
T |
C |
11: 98,889,993 (GRCm39) |
I1237V |
probably benign |
Het |
| Trub1 |
G |
T |
19: 57,473,563 (GRCm39) |
V207L |
probably benign |
Het |
| Ttll13 |
T |
A |
7: 79,909,217 (GRCm39) |
I634N |
probably benign |
Het |
| Ube2j1 |
T |
G |
4: 33,045,145 (GRCm39) |
N208K |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,118,011 (GRCm39) |
S569P |
probably damaging |
Het |
|
| Other mutations in Acsbg3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Acsbg3
|
APN |
17 |
57,189,203 (GRCm39) |
nonsense |
probably null |
|
|
IGL01833:Acsbg3
|
APN |
17 |
57,188,062 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02420:Acsbg3
|
APN |
17 |
57,187,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02969:Acsbg3
|
APN |
17 |
57,190,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03054:Acsbg3
|
UTSW |
17 |
57,193,528 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0197:Acsbg3
|
UTSW |
17 |
57,190,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0257:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0279:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0280:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0281:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0282:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0329:Acsbg3
|
UTSW |
17 |
57,190,631 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0330:Acsbg3
|
UTSW |
17 |
57,190,631 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0349:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0518:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0519:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0521:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0604:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Acsbg3
|
UTSW |
17 |
57,190,835 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1561:Acsbg3
|
UTSW |
17 |
57,184,431 (GRCm39) |
missense |
probably benign |
|
|
R1779:Acsbg3
|
UTSW |
17 |
57,192,169 (GRCm39) |
nonsense |
probably null |
|
|
R2008:Acsbg3
|
UTSW |
17 |
57,193,478 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2102:Acsbg3
|
UTSW |
17 |
57,191,949 (GRCm39) |
nonsense |
probably null |
|
|
R2247:Acsbg3
|
UTSW |
17 |
57,184,435 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2484:Acsbg3
|
UTSW |
17 |
57,189,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2917:Acsbg3
|
UTSW |
17 |
57,192,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3149:Acsbg3
|
UTSW |
17 |
57,183,348 (GRCm39) |
missense |
probably benign |
|
|
R3773:Acsbg3
|
UTSW |
17 |
57,183,262 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R4829:Acsbg3
|
UTSW |
17 |
57,190,500 (GRCm39) |
splice site |
probably null |
|
|
R4860:Acsbg3
|
UTSW |
17 |
57,195,655 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4860:Acsbg3
|
UTSW |
17 |
57,195,655 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4887:Acsbg3
|
UTSW |
17 |
57,183,324 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5043:Acsbg3
|
UTSW |
17 |
57,192,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5112:Acsbg3
|
UTSW |
17 |
57,184,465 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5161:Acsbg3
|
UTSW |
17 |
57,189,888 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5214:Acsbg3
|
UTSW |
17 |
57,193,493 (GRCm39) |
missense |
probably benign |
|
|
R5287:Acsbg3
|
UTSW |
17 |
57,183,221 (GRCm39) |
unclassified |
probably benign |
|
|
R5403:Acsbg3
|
UTSW |
17 |
57,183,221 (GRCm39) |
unclassified |
probably benign |
|
|
R5779:Acsbg3
|
UTSW |
17 |
57,188,061 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5997:Acsbg3
|
UTSW |
17 |
57,183,373 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6198:Acsbg3
|
UTSW |
17 |
57,189,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Acsbg3
|
UTSW |
17 |
57,184,513 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6357:Acsbg3
|
UTSW |
17 |
57,184,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6754:Acsbg3
|
UTSW |
17 |
57,190,358 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6842:Acsbg3
|
UTSW |
17 |
57,184,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7042:Acsbg3
|
UTSW |
17 |
57,192,098 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7181:Acsbg3
|
UTSW |
17 |
57,188,037 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7445:Acsbg3
|
UTSW |
17 |
57,189,973 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7511:Acsbg3
|
UTSW |
17 |
57,189,954 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8553:Acsbg3
|
UTSW |
17 |
57,188,021 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8919:Acsbg3
|
UTSW |
17 |
57,189,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9460:Acsbg3
|
UTSW |
17 |
57,183,316 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9469:Acsbg3
|
UTSW |
17 |
57,183,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9766:Acsbg3
|
UTSW |
17 |
57,189,177 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Acsbg3
|
UTSW |
17 |
57,190,463 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTCGGAAGCTTCGAAG -3'
(R):5'- AGCCACCTGTATGCCTCTAG -3'
Sequencing Primer
(F):5'- TCGAAGCCAGTCGACCTG -3'
(R):5'- CTGGGAATCAAACTCAGGTCTTCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation