Incidental Mutation 'R1561:Acsbg3'
ID |
170639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsbg3
|
Ensembl Gene |
ENSMUSG00000024209 |
Gene Name |
acyl-CoA synthetase bubblegum family member 3 |
Synonyms |
1700061G19Rik |
MMRRC Submission |
039600-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R1561 (G1)
|
Quality Score |
111 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
57182477-57195904 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57184431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 69
(N69D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025048]
[ENSMUST00000043062]
|
AlphaFold |
Q08EE8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025048
AA Change: N69D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025048 Gene: ENSMUSG00000024209 AA Change: N69D
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
80 |
554 |
6.5e-68 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000043062
|
SMART Domains |
Protein: ENSMUSP00000042352 Gene: ENSMUSG00000024207
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
53 |
519 |
7e-93 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125425
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
Ap1g2 |
T |
C |
14: 55,342,344 (GRCm39) |
E171G |
probably damaging |
Het |
Atg7 |
T |
C |
6: 114,678,133 (GRCm39) |
V341A |
possibly damaging |
Het |
Bace1 |
G |
T |
9: 45,750,492 (GRCm39) |
R56L |
probably benign |
Het |
Cd200l1 |
A |
G |
16: 45,262,875 (GRCm39) |
V88A |
possibly damaging |
Het |
Chfr |
A |
T |
5: 110,306,674 (GRCm39) |
D472V |
probably benign |
Het |
Ckap2l |
G |
A |
2: 129,112,645 (GRCm39) |
T621I |
probably benign |
Het |
Cmip |
A |
G |
8: 118,180,589 (GRCm39) |
T554A |
probably benign |
Het |
Crocc |
C |
T |
4: 140,757,579 (GRCm39) |
E905K |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
F5 |
C |
A |
1: 164,014,472 (GRCm39) |
S581* |
probably null |
Het |
Fam227a |
T |
A |
15: 79,520,963 (GRCm39) |
Y291F |
possibly damaging |
Het |
Gpr151 |
A |
T |
18: 42,712,221 (GRCm39) |
S152R |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,820,505 (GRCm39) |
|
probably null |
Het |
Kcna5 |
T |
C |
6: 126,511,546 (GRCm39) |
Y194C |
probably damaging |
Het |
Khsrp |
A |
G |
17: 57,332,639 (GRCm39) |
S214P |
probably benign |
Het |
Mrgprb1 |
C |
G |
7: 48,096,873 (GRCm39) |
|
probably null |
Het |
Mrnip |
C |
T |
11: 50,067,676 (GRCm39) |
T30I |
probably damaging |
Het |
Mtus2 |
A |
C |
5: 148,013,362 (GRCm39) |
K52Q |
probably benign |
Het |
Naca |
G |
T |
10: 127,876,267 (GRCm39) |
|
probably benign |
Het |
Obscn |
T |
G |
11: 58,926,899 (GRCm39) |
T5539P |
probably damaging |
Het |
Or13p3 |
T |
A |
4: 118,566,751 (GRCm39) |
I49N |
probably damaging |
Het |
Or9m1 |
C |
T |
2: 87,733,505 (GRCm39) |
V172I |
probably benign |
Het |
Ovca2 |
A |
G |
11: 75,068,805 (GRCm39) |
L198P |
probably damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,575,518 (GRCm39) |
V308A |
possibly damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,341,445 (GRCm39) |
I99M |
unknown |
Het |
Polr3b |
T |
A |
10: 84,470,776 (GRCm39) |
M139K |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,076,593 (GRCm39) |
Y191C |
probably damaging |
Het |
Prss47 |
A |
T |
13: 65,194,062 (GRCm39) |
C278S |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,247,536 (GRCm39) |
T600A |
probably damaging |
Het |
Ruvbl1 |
T |
C |
6: 88,456,136 (GRCm39) |
V70A |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,129,217 (GRCm39) |
V726A |
probably benign |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Slc26a3 |
A |
G |
12: 31,516,451 (GRCm39) |
N603S |
probably benign |
Het |
Slc2a1 |
A |
G |
4: 118,993,606 (GRCm39) |
E481G |
possibly damaging |
Het |
Slc35a5 |
A |
C |
16: 44,971,884 (GRCm39) |
S127A |
possibly damaging |
Het |
Spen |
C |
A |
4: 141,199,694 (GRCm39) |
G2978* |
probably null |
Het |
Srrt |
T |
A |
5: 137,298,281 (GRCm39) |
E297V |
probably benign |
Het |
Srsf4 |
T |
A |
4: 131,625,006 (GRCm39) |
D134E |
probably damaging |
Het |
Tdrd6 |
G |
A |
17: 43,936,515 (GRCm39) |
S1511L |
probably damaging |
Het |
Tmem65 |
T |
A |
15: 58,694,707 (GRCm39) |
I91F |
probably benign |
Het |
Top2b |
A |
G |
14: 16,398,993 (GRCm38) |
K538E |
possibly damaging |
Het |
Trappc8 |
G |
A |
18: 20,974,680 (GRCm39) |
R883* |
probably null |
Het |
Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,402,154 (GRCm39) |
|
probably null |
Het |
Vmn1r42 |
C |
T |
6: 89,822,363 (GRCm39) |
G69S |
probably damaging |
Het |
Zan |
A |
T |
5: 137,379,100 (GRCm39) |
Y5333* |
probably null |
Het |
Zfp994 |
A |
C |
17: 22,420,206 (GRCm39) |
F248V |
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 |
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'- GAAGTGACTTCTGACCTTCTGCCC -3'
(R):5'- AACCTGAAGTGGAGCGCAAACC -3'
Sequencing Primer
(F):5'- GCCCTGTTCTGGGGAGAG -3'
(R):5'- GGACTTGCTTGCACAGGAG -3'
|
Posted On |
2014-04-13 |