Incidental Mutation 'R9460:Acsbg3'
ID |
714839 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Acsbg3
|
Ensembl Gene |
ENSMUSG00000024209 |
Gene Name |
acyl-CoA synthetase bubblegum family member 3 |
Synonyms |
1700061G19Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R9460 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57182477-57195904 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57183316 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 19
(T19I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025048]
[ENSMUST00000043062]
|
AlphaFold |
Q08EE8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025048
AA Change: T19I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000025048 Gene: ENSMUSG00000024209 AA Change: T19I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg1 |
T |
A |
16: 5,060,425 (GRCm39) |
M382K |
probably damaging |
Het |
Arhgap17 |
A |
G |
7: 122,879,286 (GRCm39) |
S822P |
unknown |
Het |
Bend7 |
A |
C |
2: 4,749,302 (GRCm39) |
T140P |
probably benign |
Het |
C1rb |
T |
G |
6: 124,557,865 (GRCm39) |
D667E |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,253,750 (GRCm39) |
C794R |
probably damaging |
Het |
Cd36 |
T |
C |
5: 18,000,608 (GRCm39) |
D365G |
probably null |
Het |
Cep164 |
T |
C |
9: 45,685,282 (GRCm39) |
N825S |
probably benign |
Het |
Cp |
T |
C |
3: 20,018,566 (GRCm39) |
L90P |
|
Het |
Cpeb2 |
C |
T |
5: 43,390,769 (GRCm39) |
|
probably benign |
Het |
Cramp1 |
A |
G |
17: 25,222,281 (GRCm39) |
S146P |
probably damaging |
Het |
Csmd3 |
A |
T |
15: 47,617,130 (GRCm39) |
D1019E |
|
Het |
Cyp2d10 |
T |
A |
15: 82,289,470 (GRCm39) |
D214V |
probably benign |
Het |
Dcaf17 |
G |
C |
2: 70,917,695 (GRCm39) |
V406L |
possibly damaging |
Het |
Ehmt1 |
A |
G |
2: 24,728,791 (GRCm39) |
V703A |
probably benign |
Het |
Ermp1 |
A |
C |
19: 29,609,916 (GRCm39) |
V293G |
probably benign |
Het |
Fancd2os |
C |
A |
6: 113,574,569 (GRCm39) |
V146F |
probably benign |
Het |
Galnt12 |
C |
T |
4: 47,117,983 (GRCm39) |
T426I |
probably damaging |
Het |
Gm11011 |
T |
A |
2: 169,429,289 (GRCm39) |
T44S |
unknown |
Het |
Gm2832 |
C |
T |
14: 41,000,843 (GRCm39) |
T27I |
|
Het |
Klhl32 |
A |
G |
4: 24,649,866 (GRCm39) |
V310A |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,941,378 (GRCm39) |
C1728* |
probably null |
Het |
Lama2 |
T |
A |
10: 27,298,475 (GRCm39) |
N207I |
probably damaging |
Het |
Lpar5 |
A |
G |
6: 125,058,234 (GRCm39) |
|
probably benign |
Het |
Map3k8 |
T |
C |
18: 4,349,277 (GRCm39) |
I14V |
probably benign |
Het |
Marf1 |
A |
T |
16: 13,947,526 (GRCm39) |
V1151E |
probably damaging |
Het |
Me1 |
G |
A |
9: 86,495,685 (GRCm39) |
A274V |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,372,197 (GRCm39) |
I797N |
probably damaging |
Het |
Myo15a |
T |
A |
11: 60,372,566 (GRCm39) |
|
probably null |
Het |
N4bp2 |
A |
T |
5: 65,963,886 (GRCm39) |
D645V |
probably benign |
Het |
Nlrp4f |
G |
T |
13: 65,342,006 (GRCm39) |
D546E |
possibly damaging |
Het |
Npc1 |
T |
C |
18: 12,346,398 (GRCm39) |
D266G |
possibly damaging |
Het |
Or4a81 |
G |
A |
2: 89,618,778 (GRCm39) |
S306L |
probably benign |
Het |
Or8k16 |
A |
G |
2: 85,520,359 (GRCm39) |
I195M |
probably benign |
Het |
Pcdha12 |
C |
T |
18: 37,153,574 (GRCm39) |
R98W |
probably damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Pigr |
T |
C |
1: 130,772,403 (GRCm39) |
I207T |
probably damaging |
Het |
Plxnc1 |
T |
A |
10: 94,700,895 (GRCm39) |
E596D |
probably benign |
Het |
Polr1e |
C |
T |
4: 45,018,691 (GRCm39) |
P7L |
probably benign |
Het |
Ppp5c |
G |
T |
7: 16,741,137 (GRCm39) |
Y313* |
probably null |
Het |
Sacs |
C |
A |
14: 61,441,611 (GRCm39) |
T1219K |
probably benign |
Het |
Scn3a |
A |
G |
2: 65,300,535 (GRCm39) |
V1277A |
probably damaging |
Het |
Serinc5 |
G |
T |
13: 92,844,607 (GRCm39) |
A450S |
possibly damaging |
Het |
Serinc5 |
T |
C |
13: 92,844,619 (GRCm39) |
C454R |
probably benign |
Het |
Slc12a6 |
G |
A |
2: 112,183,280 (GRCm39) |
V771I |
probably benign |
Het |
Slc4a1ap |
T |
C |
5: 31,685,463 (GRCm39) |
I247T |
probably benign |
Het |
Snx10 |
T |
A |
6: 51,565,888 (GRCm39) |
S184R |
probably damaging |
Het |
Tgm2 |
A |
T |
2: 157,971,241 (GRCm39) |
|
probably null |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Thsd7b |
T |
C |
1: 130,090,674 (GRCm39) |
|
probably null |
Het |
Tiam2 |
G |
A |
17: 3,487,585 (GRCm39) |
G702E |
probably damaging |
Het |
Tmco4 |
T |
A |
4: 138,747,387 (GRCm39) |
V212D |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vipas39 |
A |
G |
12: 87,288,021 (GRCm39) |
L482P |
probably damaging |
Het |
Vmn1r5 |
T |
A |
6: 56,962,829 (GRCm39) |
M168K |
|
Het |
Vps13c |
T |
C |
9: 67,837,904 (GRCm39) |
L1818S |
possibly damaging |
Het |
Vwa2 |
A |
G |
19: 56,886,388 (GRCm39) |
I152V |
probably benign |
Het |
Zfp180 |
G |
A |
7: 23,804,399 (GRCm39) |
G273R |
probably damaging |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
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 |
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 |
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'- ATCCTGGTCTGTGAGGTTCC -3'
(R):5'- TAGACCAGTGCTGCTCTACTAC -3'
Sequencing Primer
(F):5'- TCTGGCCAATTCCACCAC -3'
(R):5'- TACTGATCCCAGAAGTGTGCCTG -3'
|
Posted On |
2022-06-15 |