Incidental Mutation 'R0280:Acsbg3'
ID |
37482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsbg3
|
Ensembl Gene |
ENSMUSG00000024209 |
Gene Name |
acyl-CoA synthetase bubblegum family member 3 |
Synonyms |
1700061G19Rik |
MMRRC Submission |
038502-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R0280 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57182477-57195904 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 57192169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 577
(Y577*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025048]
|
AlphaFold |
Q08EE8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000025048
AA Change: Y577*
|
SMART Domains |
Protein: ENSMUSP00000025048 Gene: ENSMUSG00000024209 AA Change: Y577*
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
80 |
554 |
6.5e-68 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
96% (55/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
C |
T |
8: 25,164,070 (GRCm39) |
G38R |
probably benign |
Het |
Ankrd16 |
T |
G |
2: 11,786,312 (GRCm39) |
V187G |
probably damaging |
Het |
Ccdc110 |
A |
T |
8: 46,396,487 (GRCm39) |
N793Y |
probably benign |
Het |
Ccdc170 |
T |
C |
10: 4,508,663 (GRCm39) |
I629T |
possibly damaging |
Het |
Clcn6 |
A |
G |
4: 148,093,172 (GRCm39) |
L836P |
probably damaging |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Crocc |
T |
C |
4: 140,755,737 (GRCm39) |
E1097G |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,321,616 (GRCm39) |
V494E |
probably damaging |
Het |
Drg1 |
A |
T |
11: 3,206,537 (GRCm39) |
|
probably null |
Het |
Dscam |
T |
C |
16: 96,840,206 (GRCm39) |
K134E |
possibly damaging |
Het |
Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
Esr1 |
A |
G |
10: 4,806,951 (GRCm39) |
D289G |
probably benign |
Het |
Esr1 |
G |
T |
10: 4,889,289 (GRCm39) |
V396F |
probably damaging |
Het |
Evi5l |
T |
C |
8: 4,243,133 (GRCm39) |
V339A |
probably damaging |
Het |
Fat4 |
A |
T |
3: 38,944,965 (GRCm39) |
Q1286L |
probably benign |
Het |
Fcsk |
A |
T |
8: 111,621,380 (GRCm39) |
V188D |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,887,681 (GRCm39) |
H1118R |
probably damaging |
Het |
Fut9 |
C |
T |
4: 25,619,852 (GRCm39) |
D321N |
probably benign |
Het |
Gaa |
T |
G |
11: 119,175,373 (GRCm39) |
V917G |
probably damaging |
Het |
Gm973 |
GCC |
GC |
1: 59,583,839 (GRCm39) |
|
probably null |
Het |
Kidins220 |
A |
G |
12: 25,060,140 (GRCm39) |
T767A |
probably damaging |
Het |
Kif7 |
A |
G |
7: 79,348,571 (GRCm39) |
S1257P |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,194,726 (GRCm39) |
L1391P |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,236,439 (GRCm39) |
Y681H |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,240,564 (GRCm39) |
V291A |
possibly damaging |
Het |
Metrn |
C |
T |
17: 26,014,109 (GRCm39) |
R239H |
probably benign |
Het |
Mphosph10 |
C |
A |
7: 64,026,451 (GRCm39) |
K666N |
possibly damaging |
Het |
Mtbp |
C |
T |
15: 55,449,857 (GRCm39) |
T433I |
probably benign |
Het |
Mtmr2 |
A |
G |
9: 13,710,545 (GRCm39) |
K365E |
probably damaging |
Het |
Nanog |
A |
G |
6: 122,690,357 (GRCm39) |
D229G |
probably damaging |
Het |
Nkapd1 |
T |
C |
9: 50,520,679 (GRCm39) |
T123A |
probably damaging |
Het |
Npepps |
T |
C |
11: 97,131,840 (GRCm39) |
N338S |
possibly damaging |
Het |
Nphp4 |
T |
A |
4: 152,636,393 (GRCm39) |
|
probably benign |
Het |
Odad4 |
A |
T |
11: 100,441,091 (GRCm39) |
K107N |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,137,417 (GRCm39) |
F289S |
possibly damaging |
Het |
Plcl2 |
A |
G |
17: 50,914,062 (GRCm39) |
E357G |
probably damaging |
Het |
Polb |
A |
T |
8: 23,130,408 (GRCm39) |
Y173N |
probably damaging |
Het |
R3hdm1 |
T |
A |
1: 128,090,512 (GRCm39) |
S74T |
probably benign |
Het |
Raet1d |
T |
A |
10: 22,246,782 (GRCm39) |
C37S |
probably damaging |
Het |
Reln |
G |
A |
5: 22,432,511 (GRCm39) |
|
probably benign |
Het |
Rps6kc1 |
T |
C |
1: 190,541,197 (GRCm39) |
S369G |
probably damaging |
Het |
Sgf29 |
A |
G |
7: 126,270,743 (GRCm39) |
E108G |
probably benign |
Het |
Sh3tc1 |
A |
G |
5: 35,863,361 (GRCm39) |
L942P |
probably damaging |
Het |
Slc22a27 |
A |
T |
19: 7,874,187 (GRCm39) |
L188* |
probably null |
Het |
Slc9a3 |
T |
A |
13: 74,307,543 (GRCm39) |
I445N |
probably damaging |
Het |
Sufu |
A |
T |
19: 46,439,112 (GRCm39) |
|
probably benign |
Het |
Tomm40 |
G |
A |
7: 19,447,676 (GRCm39) |
T118I |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,570,823 (GRCm39) |
R26690H |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,488,005 (GRCm39) |
I293V |
possibly damaging |
Het |
Vmn2r68 |
T |
A |
7: 84,882,457 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
C |
G |
7: 84,882,466 (GRCm39) |
|
probably null |
Het |
Vsig8 |
A |
G |
1: 172,389,105 (GRCm39) |
D119G |
probably benign |
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 |
|
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 |
R8122:Acsbg3
|
UTSW |
17 |
57,193,670 (GRCm39) |
missense |
possibly damaging |
0.50 |
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'- GCTCCACTTCCTAGAGAAGGGGATG -3'
(R):5'- GCCTGCCTTTCCAAAGAGGCTTA -3'
Sequencing Primer
(F):5'- CTAGAGAAGGGGATGTTTGGG -3'
(R):5'- ctcaccagtctcctcccc -3'
|
Posted On |
2013-05-23 |