Incidental Mutation 'IGL02073:Bcas3'
ID |
185901 |
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 # |
IGL02073
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 85448263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 405
(D405G)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000092822]
[ENSMUST00000108061]
[ENSMUST00000108062]
|
AlphaFold |
Q8CCN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074875
AA Change: D641G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074416 Gene: ENSMUSG00000059439 AA Change: D641G
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 damaging
Transcript: ENSMUST00000092821
AA Change: D626G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000090496 Gene: ENSMUSG00000059439 AA Change: D626G
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 damaging
Transcript: ENSMUST00000092822
AA Change: D149G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090497 Gene: ENSMUSG00000059439 AA Change: D149G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
low complexity region
|
28 |
37 |
N/A |
INTRINSIC |
Pfam:BCAS3
|
44 |
298 |
1.2e-35 |
PFAM |
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108061
AA Change: D641G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103696 Gene: ENSMUSG00000059439 AA Change: D641G
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 damaging
Transcript: ENSMUST00000108062
AA Change: D641G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103697 Gene: ENSMUSG00000059439 AA Change: D641G
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 |
probably damaging
Transcript: ENSMUST00000142596
AA Change: D167G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122571 Gene: ENSMUSG00000059439 AA Change: D167G
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
21 |
N/A |
INTRINSIC |
low complexity region
|
32 |
41 |
N/A |
INTRINSIC |
Pfam:BCAS3
|
48 |
323 |
3e-29 |
PFAM |
low complexity region
|
434 |
450 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154396
AA Change: D405G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122154 Gene: ENSMUSG00000059439 AA Change: D405G
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930566N20Rik |
C |
A |
3: 156,914,039 (GRCm39) |
|
probably benign |
Het |
6330409D20Rik |
T |
G |
2: 32,630,698 (GRCm39) |
|
probably benign |
Het |
Als2cl |
A |
G |
9: 110,723,407 (GRCm39) |
K659E |
probably benign |
Het |
Bbx |
G |
A |
16: 50,022,854 (GRCm39) |
T702I |
probably damaging |
Het |
Brpf3 |
A |
G |
17: 29,026,370 (GRCm39) |
Y481C |
probably benign |
Het |
Csnk1g1 |
T |
A |
9: 65,909,533 (GRCm39) |
Y217N |
probably damaging |
Het |
Cyp4f37 |
G |
T |
17: 32,846,825 (GRCm39) |
V171L |
possibly damaging |
Het |
Dock8 |
G |
A |
19: 25,178,350 (GRCm39) |
|
probably null |
Het |
Extl3 |
C |
A |
14: 65,313,788 (GRCm39) |
G465W |
probably damaging |
Het |
Fbxo10 |
A |
G |
4: 45,046,349 (GRCm39) |
I587T |
possibly damaging |
Het |
Fstl5 |
A |
C |
3: 76,566,959 (GRCm39) |
|
probably benign |
Het |
Gabbr2 |
T |
C |
4: 46,667,547 (GRCm39) |
N866S |
probably benign |
Het |
Gm4871 |
T |
A |
5: 144,969,388 (GRCm39) |
K44* |
probably null |
Het |
Hnrnpul1 |
T |
C |
7: 25,421,766 (GRCm39) |
|
probably benign |
Het |
Jup |
A |
G |
11: 100,274,215 (GRCm39) |
|
probably benign |
Het |
Mccc2 |
A |
T |
13: 100,136,783 (GRCm39) |
H57Q |
probably benign |
Het |
Myo1a |
A |
T |
10: 127,546,094 (GRCm39) |
D239V |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 26,974,612 (GRCm39) |
S695T |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,249,743 (GRCm39) |
S1052T |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,169 (GRCm39) |
I301T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,621 (GRCm39) |
N112K |
possibly damaging |
Het |
Or8c10 |
C |
T |
9: 38,279,603 (GRCm39) |
H244Y |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,729,414 (GRCm39) |
I526K |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,621,102 (GRCm39) |
D974G |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,714,001 (GRCm39) |
E407G |
probably damaging |
Het |
Polk |
A |
G |
13: 96,641,059 (GRCm39) |
V166A |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,610,322 (GRCm39) |
I184V |
probably damaging |
Het |
Ptpra |
T |
C |
2: 30,333,362 (GRCm39) |
S64P |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,166,340 (GRCm39) |
L768P |
probably damaging |
Het |
Ripk3 |
C |
T |
14: 56,023,482 (GRCm39) |
|
probably null |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Sar1b |
T |
C |
11: 51,680,020 (GRCm39) |
|
probably benign |
Het |
Slx |
A |
T |
X: 26,489,755 (GRCm39) |
W89R |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Svep1 |
T |
C |
4: 58,070,104 (GRCm39) |
I2561V |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,624,721 (GRCm39) |
D1743G |
probably benign |
Het |
Tm7sf3 |
A |
G |
6: 146,525,208 (GRCm39) |
L79P |
possibly damaging |
Het |
Trub1 |
A |
T |
19: 57,441,379 (GRCm39) |
M1L |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,651,386 (GRCm39) |
D1577G |
possibly damaging |
Het |
Vat1 |
A |
T |
11: 101,351,405 (GRCm39) |
M312K |
possibly damaging |
Het |
Vmn1r17 |
T |
C |
6: 57,337,787 (GRCm39) |
I193V |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,875,732 (GRCm39) |
I2706V |
possibly damaging |
Het |
Wls |
T |
C |
3: 159,612,890 (GRCm39) |
|
probably null |
Het |
Zfp955b |
A |
G |
17: 33,519,564 (GRCm39) |
T11A |
possibly damaging |
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 |
IGL00754:Bcas3
|
APN |
11 |
85,386,649 (GRCm39) |
splice site |
probably benign |
|
IGL01712:Bcas3
|
APN |
11 |
85,471,874 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2014-05-07 |