Incidental Mutation 'IGL00754:Bcas3'
| ID |
9248 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcas3
|
| Ensembl Gene |
ENSMUSG00000059439 |
| Gene Name |
BCAS3 microtubule associated cell migration factor |
| Synonyms |
rudhira, 1500019F07Rik, Phaf2, breast carcinoma amplified sequence 3, K20D4, 2610028P08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
IGL00754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 85386649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000108056]
[ENSMUST00000108061]
[ENSMUST00000108062]
[ENSMUST00000144276]
|
| AlphaFold |
Q8CCN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074875
|
| SMART Domains |
Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
56 |
104 |
3e-17 |
BLAST |
|
WD40
|
340 |
380 |
7.7e-1 |
SMART |
|
WD40
|
390 |
433 |
2.47e1 |
SMART |
|
low complexity region
|
480 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
Pfam:BCAS3
|
521 |
792 |
2.3e-33 |
PFAM |
|
low complexity region
|
885 |
901 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092821
|
| SMART Domains |
Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
56 |
104 |
3e-17 |
BLAST |
|
WD40
|
340 |
380 |
7.7e-1 |
SMART |
|
WD40
|
390 |
433 |
2.47e1 |
SMART |
|
low complexity region
|
480 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
Pfam:BCAS3
|
521 |
776 |
3.8e-35 |
PFAM |
|
low complexity region
|
870 |
886 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108056
|
| SMART Domains |
Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
56 |
104 |
7e-18 |
BLAST |
|
WD40
|
340 |
380 |
7.7e-1 |
SMART |
|
WD40
|
390 |
433 |
2.47e1 |
SMART |
|
low complexity region
|
480 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108061
|
| SMART Domains |
Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
56 |
104 |
2e-17 |
BLAST |
|
WD40
|
340 |
380 |
7.7e-1 |
SMART |
|
WD40
|
390 |
433 |
2.47e1 |
SMART |
|
low complexity region
|
480 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
Pfam:BCAS3
|
521 |
789 |
1e-33 |
PFAM |
|
low complexity region
|
899 |
913 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108062
|
| SMART Domains |
Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
56 |
104 |
2e-17 |
BLAST |
|
WD40
|
340 |
380 |
7.7e-1 |
SMART |
|
WD40
|
390 |
433 |
2.47e1 |
SMART |
|
low complexity region
|
480 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
514 |
N/A |
INTRINSIC |
|
Pfam:BCAS3
|
521 |
796 |
1.3e-28 |
PFAM |
|
low complexity region
|
899 |
913 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144276
|
| SMART Domains |
Protein: ENSMUSP00000114415
Gene: ENSMUSG00000059439
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
94 |
134 |
7.7e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154396
|
| SMART Domains |
Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
120 |
160 |
7.7e-1 |
SMART |
|
WD40
|
170 |
213 |
2.47e1 |
SMART |
|
low complexity region
|
260 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
294 |
N/A |
INTRINSIC |
|
Pfam:BCAS3
|
301 |
561 |
1e-30 |
PFAM |
|
low complexity region
|
650 |
666 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157154
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
A |
10: 20,848,040 (GRCm39) |
G483R |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,150,968 (GRCm39) |
I816V |
probably damaging |
Het |
| Aprt |
T |
C |
8: 123,302,232 (GRCm39) |
Q77R |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,641,036 (GRCm39) |
M697V |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Chrnd |
A |
C |
1: 87,123,506 (GRCm39) |
E348A |
probably benign |
Het |
| Ctnnbl1 |
A |
T |
2: 157,661,461 (GRCm39) |
S324C |
possibly damaging |
Het |
| Dgkb |
C |
A |
12: 38,488,567 (GRCm39) |
N644K |
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,051,697 (GRCm39) |
L1720* |
probably null |
Het |
| Ehbp1 |
A |
G |
11: 22,197,967 (GRCm39) |
|
probably benign |
Het |
| Eif1b |
G |
T |
9: 120,323,686 (GRCm39) |
C94F |
probably benign |
Het |
| Fmnl3 |
G |
A |
15: 99,220,551 (GRCm39) |
T577I |
probably damaging |
Het |
| Gm28042 |
G |
A |
2: 119,860,837 (GRCm39) |
G96R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,031,026 (GRCm39) |
V86A |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,618,389 (GRCm39) |
S131R |
probably damaging |
Het |
| Mboat4 |
A |
G |
8: 34,591,708 (GRCm39) |
T382A |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,645,069 (GRCm39) |
H198Q |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,659,741 (GRCm39) |
D1627G |
probably benign |
Het |
| Pdcd11 |
T |
A |
19: 47,092,221 (GRCm39) |
F406I |
possibly damaging |
Het |
| Ppara |
T |
C |
15: 85,661,843 (GRCm39) |
L28S |
probably damaging |
Het |
| Samd3 |
A |
G |
10: 26,120,425 (GRCm39) |
T140A |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,026,645 (GRCm39) |
F1255L |
probably damaging |
Het |
| Stard6 |
T |
A |
18: 70,616,559 (GRCm39) |
S73T |
probably benign |
Het |
| Tnip2 |
T |
C |
5: 34,656,643 (GRCm39) |
I221V |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,612,429 (GRCm39) |
I8859T |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,553,348 (GRCm39) |
S907P |
possibly damaging |
Het |
| Utp25 |
G |
T |
1: 192,797,309 (GRCm39) |
N514K |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,539,236 (GRCm39) |
V1927A |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,070,931 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bcas3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Bcas3
|
APN |
11 |
85,256,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01712:Bcas3
|
APN |
11 |
85,471,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02073:Bcas3
|
APN |
11 |
85,448,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02261:Bcas3
|
APN |
11 |
85,422,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02323:Bcas3
|
APN |
11 |
85,386,671 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02493:Bcas3
|
APN |
11 |
85,386,708 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02609:Bcas3
|
APN |
11 |
85,348,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02808:Bcas3
|
APN |
11 |
85,386,677 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03085:Bcas3
|
APN |
11 |
85,367,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Bcas3
|
APN |
11 |
85,712,948 (GRCm39) |
intron |
probably benign |
|
|
FR4340:Bcas3
|
UTSW |
11 |
85,400,323 (GRCm39) |
missense |
probably benign |
0.12 |
|
FR4342:Bcas3
|
UTSW |
11 |
85,400,323 (GRCm39) |
missense |
probably benign |
0.12 |
|
FR4589:Bcas3
|
UTSW |
11 |
85,400,323 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02991:Bcas3
|
UTSW |
11 |
85,348,713 (GRCm39) |
nonsense |
probably null |
|
|
PIT4377001:Bcas3
|
UTSW |
11 |
85,386,668 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4472001:Bcas3
|
UTSW |
11 |
85,422,726 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0145:Bcas3
|
UTSW |
11 |
85,250,436 (GRCm39) |
splice site |
probably benign |
|
|
R0257:Bcas3
|
UTSW |
11 |
85,712,865 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0276:Bcas3
|
UTSW |
11 |
85,361,663 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0485:Bcas3
|
UTSW |
11 |
85,386,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1053:Bcas3
|
UTSW |
11 |
85,448,236 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1833:Bcas3
|
UTSW |
11 |
85,474,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2107:Bcas3
|
UTSW |
11 |
85,348,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2108:Bcas3
|
UTSW |
11 |
85,348,704 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2215:Bcas3
|
UTSW |
11 |
85,692,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2404:Bcas3
|
UTSW |
11 |
85,245,715 (GRCm39) |
splice site |
probably benign |
|
|
R2413:Bcas3
|
UTSW |
11 |
85,422,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3694:Bcas3
|
UTSW |
11 |
85,692,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3880:Bcas3
|
UTSW |
11 |
85,261,948 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4241:Bcas3
|
UTSW |
11 |
85,361,652 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4794:Bcas3
|
UTSW |
11 |
85,400,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Bcas3
|
UTSW |
11 |
85,434,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Bcas3
|
UTSW |
11 |
85,261,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5245:Bcas3
|
UTSW |
11 |
85,449,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Bcas3
|
UTSW |
11 |
85,342,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5395:Bcas3
|
UTSW |
11 |
85,716,075 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5615:Bcas3
|
UTSW |
11 |
85,361,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5753:Bcas3
|
UTSW |
11 |
85,712,910 (GRCm39) |
intron |
probably benign |
|
|
R6198:Bcas3
|
UTSW |
11 |
85,400,261 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6668:Bcas3
|
UTSW |
11 |
85,692,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7170:Bcas3
|
UTSW |
11 |
85,386,744 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7171:Bcas3
|
UTSW |
11 |
85,474,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7672:Bcas3
|
UTSW |
11 |
85,286,213 (GRCm39) |
nonsense |
probably null |
|
|
R7689:Bcas3
|
UTSW |
11 |
85,386,713 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7912:Bcas3
|
UTSW |
11 |
85,261,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8260:Bcas3
|
UTSW |
11 |
85,400,372 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8292:Bcas3
|
UTSW |
11 |
85,348,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8334:Bcas3
|
UTSW |
11 |
85,467,637 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8716:Bcas3
|
UTSW |
11 |
85,471,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8812:Bcas3
|
UTSW |
11 |
85,449,973 (GRCm39) |
missense |
probably benign |
|
|
R9300:Bcas3
|
UTSW |
11 |
85,448,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9709:Bcas3
|
UTSW |
11 |
85,474,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V3553:Bcas3
|
UTSW |
11 |
85,712,926 (GRCm39) |
intron |
probably benign |
|
|
X0020:Bcas3
|
UTSW |
11 |
85,422,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-12-06 |
Incidental Mutation