Incidental Mutation 'IGL02261:Bcas3'
ID |
286757 |
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 # |
IGL02261
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85422756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 542
(T542S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000092822]
[ENSMUST00000108061]
[ENSMUST00000108062]
|
AlphaFold |
Q8CCN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074875
AA Change: T542S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074416 Gene: ENSMUSG00000059439 AA Change: T542S
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
AA Change: T542S
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000090496 Gene: ENSMUSG00000059439 AA Change: T542S
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: ENSMUST00000092822
AA Change: T65S
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000090497 Gene: ENSMUSG00000059439 AA Change: T65S
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 benign
Transcript: ENSMUST00000108061
AA Change: T542S
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103696 Gene: ENSMUSG00000059439 AA Change: T542S
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
AA Change: T542S
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000103697 Gene: ENSMUSG00000059439 AA Change: T542S
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 |
unknown
Transcript: ENSMUST00000142596
AA Change: T68S
|
SMART Domains |
Protein: ENSMUSP00000122571 Gene: ENSMUSG00000059439 AA Change: T68S
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 |
unknown
Transcript: ENSMUST00000154396
AA Change: T321S
|
SMART Domains |
Protein: ENSMUSP00000122154 Gene: ENSMUSG00000059439 AA Change: T321S
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
G |
A |
5: 88,604,807 (GRCm39) |
V27M |
probably damaging |
Het |
Ank1 |
A |
G |
8: 23,578,015 (GRCm39) |
N222D |
probably damaging |
Het |
Btbd1 |
A |
T |
7: 81,455,507 (GRCm39) |
I288N |
probably damaging |
Het |
Ctps1 |
C |
T |
4: 120,399,776 (GRCm39) |
V500I |
possibly damaging |
Het |
Cul5 |
A |
C |
9: 53,546,337 (GRCm39) |
V345G |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,421,776 (GRCm39) |
Y215H |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 49,973,566 (GRCm39) |
M67K |
possibly damaging |
Het |
Egln2 |
C |
T |
7: 26,859,291 (GRCm39) |
E353K |
possibly damaging |
Het |
Fbxw5 |
G |
T |
2: 25,393,746 (GRCm39) |
A325S |
probably benign |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Gaa |
A |
G |
11: 119,172,091 (GRCm39) |
*207W |
probably null |
Het |
Herc2 |
A |
G |
7: 55,856,492 (GRCm39) |
T3947A |
probably damaging |
Het |
Ifit2 |
T |
A |
19: 34,551,624 (GRCm39) |
I388N |
probably damaging |
Het |
Ikzf4 |
T |
C |
10: 128,472,591 (GRCm39) |
T209A |
possibly damaging |
Het |
Il17re |
A |
T |
6: 113,445,472 (GRCm39) |
|
probably benign |
Het |
Insrr |
T |
A |
3: 87,708,029 (GRCm39) |
L157Q |
probably damaging |
Het |
Kcnq2 |
T |
G |
2: 180,723,483 (GRCm39) |
Y631S |
probably damaging |
Het |
Lrrfip1 |
A |
G |
1: 91,039,890 (GRCm39) |
I198V |
probably benign |
Het |
Mir7684 |
A |
T |
15: 82,273,345 (GRCm39) |
|
probably benign |
Het |
Mphosph9 |
C |
T |
5: 124,398,150 (GRCm39) |
E1049K |
probably damaging |
Het |
Mroh1 |
G |
A |
15: 76,313,360 (GRCm39) |
R611Q |
probably benign |
Het |
Mynn |
A |
T |
3: 30,661,280 (GRCm39) |
I121F |
possibly damaging |
Het |
Ndrg2 |
G |
A |
14: 52,148,566 (GRCm39) |
R32C |
probably damaging |
Het |
Or2ab1 |
T |
C |
11: 58,488,630 (GRCm39) |
I138T |
probably benign |
Het |
Or4p7 |
A |
G |
2: 88,221,725 (GRCm39) |
I45V |
probably benign |
Het |
Ppp1r9b |
A |
G |
11: 94,892,936 (GRCm39) |
E260G |
probably damaging |
Het |
Psd4 |
A |
G |
2: 24,291,756 (GRCm39) |
S652G |
probably damaging |
Het |
Psg25 |
C |
T |
7: 18,255,268 (GRCm39) |
R416H |
probably benign |
Het |
Pygm |
T |
A |
19: 6,438,301 (GRCm39) |
N171K |
probably damaging |
Het |
Rbm46 |
A |
T |
3: 82,771,723 (GRCm39) |
D297E |
possibly damaging |
Het |
Selenov |
T |
A |
7: 27,990,004 (GRCm39) |
T167S |
probably benign |
Het |
Serpina10 |
T |
C |
12: 103,583,208 (GRCm39) |
Y358C |
probably damaging |
Het |
Slc27a3 |
T |
C |
3: 90,295,002 (GRCm39) |
R352G |
probably benign |
Het |
Snx33 |
T |
C |
9: 56,833,862 (GRCm39) |
D69G |
probably benign |
Het |
St8sia2 |
G |
T |
7: 73,616,594 (GRCm39) |
P127H |
probably damaging |
Het |
Thbd |
T |
C |
2: 148,248,401 (GRCm39) |
K489R |
probably benign |
Het |
Ttn |
A |
T |
2: 76,767,049 (GRCm39) |
C3039S |
probably damaging |
Het |
Vmn1r167 |
T |
C |
7: 23,204,261 (GRCm39) |
M252V |
probably benign |
Het |
Xdh |
A |
G |
17: 74,220,960 (GRCm39) |
S590P |
possibly damaging |
Het |
Zfp827 |
G |
A |
8: 79,906,708 (GRCm39) |
V907I |
probably 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 |
IGL02073:Bcas3
|
APN |
11 |
85,448,263 (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 |
2015-04-16 |