Incidental Mutation 'R5615:Bcas3'
ID |
438206 |
Institutional Source |
Beutler Lab
|
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 # |
R5615 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85361587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 250
(C250S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103691
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000108056]
[ENSMUST00000108061]
[ENSMUST00000108062]
[ENSMUST00000144276]
|
AlphaFold |
Q8CCN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074875
AA Change: C250S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074416 Gene: ENSMUSG00000059439 AA Change: C250S
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 |
possibly damaging
Transcript: ENSMUST00000092821
AA Change: C250S
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000090496 Gene: ENSMUSG00000059439 AA Change: C250S
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: ENSMUST00000108056
AA Change: C250S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103691 Gene: ENSMUSG00000059439 AA Change: C250S
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
AA Change: C250S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103696 Gene: ENSMUSG00000059439 AA Change: C250S
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: C250S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000103697 Gene: ENSMUSG00000059439 AA Change: C250S
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 |
possibly damaging
Transcript: ENSMUST00000144276
AA Change: C4S
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000114415 Gene: ENSMUSG00000059439 AA Change: C4S
Domain | Start | End | E-Value | Type |
WD40
|
94 |
134 |
7.7e-1 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154396
AA Change: C29S
|
SMART Domains |
Protein: ENSMUSP00000122154 Gene: ENSMUSG00000059439 AA Change: C29S
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 |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,346,218 (GRCm39) |
L884H |
probably damaging |
Het |
Ahr |
A |
G |
12: 35,553,884 (GRCm39) |
V745A |
probably benign |
Het |
Ankrd17 |
A |
T |
5: 90,431,295 (GRCm39) |
S830T |
possibly damaging |
Het |
Aox1 |
A |
G |
1: 58,136,125 (GRCm39) |
T1123A |
probably benign |
Het |
Arhgef11 |
T |
C |
3: 87,629,792 (GRCm39) |
|
probably null |
Het |
Bckdk |
T |
C |
7: 127,506,489 (GRCm39) |
I272T |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,287,916 (GRCm39) |
K1897E |
probably damaging |
Het |
Cd180 |
A |
T |
13: 102,842,711 (GRCm39) |
I586F |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,367,012 (GRCm39) |
D1121G |
probably damaging |
Het |
Clasrp |
A |
G |
7: 19,320,372 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
G |
T |
4: 63,199,351 (GRCm39) |
K912N |
probably damaging |
Het |
Dock4 |
G |
T |
12: 40,699,479 (GRCm39) |
R231L |
probably benign |
Het |
Ell |
G |
A |
8: 71,043,382 (GRCm39) |
S505N |
probably benign |
Het |
Ephb6 |
A |
G |
6: 41,596,225 (GRCm39) |
T833A |
probably benign |
Het |
Hemk1 |
T |
A |
9: 107,208,023 (GRCm39) |
|
probably null |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hspa12a |
T |
C |
19: 58,793,082 (GRCm39) |
I368V |
possibly damaging |
Het |
Igkv3-3 |
A |
T |
6: 70,664,214 (GRCm39) |
T19S |
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,465,561 (GRCm39) |
A2158T |
possibly damaging |
Het |
Lancl2 |
T |
C |
6: 57,699,496 (GRCm39) |
Y104H |
probably damaging |
Het |
Leng8 |
G |
T |
7: 4,147,957 (GRCm39) |
E634* |
probably null |
Het |
Lrrk1 |
A |
T |
7: 65,937,363 (GRCm39) |
C930S |
probably damaging |
Het |
Lvrn |
C |
T |
18: 46,983,395 (GRCm39) |
S46L |
possibly damaging |
Het |
Mcidas |
G |
A |
13: 113,133,959 (GRCm39) |
V148I |
probably benign |
Het |
Mprip |
A |
T |
11: 59,649,313 (GRCm39) |
T1006S |
probably benign |
Het |
Mrgprb3 |
T |
A |
7: 48,293,234 (GRCm39) |
M106L |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mtor |
G |
A |
4: 148,622,733 (GRCm39) |
V1938I |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,277,446 (GRCm39) |
D46G |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or10ag52 |
T |
A |
2: 87,044,083 (GRCm39) |
F282L |
probably benign |
Het |
Or6c215 |
A |
T |
10: 129,637,636 (GRCm39) |
C253S |
probably damaging |
Het |
Osbp2 |
C |
T |
11: 3,813,356 (GRCm39) |
G171D |
probably benign |
Het |
Otud6b |
A |
T |
4: 14,818,187 (GRCm39) |
M238K |
possibly damaging |
Het |
Pcdhac2 |
G |
A |
18: 37,279,476 (GRCm39) |
G819R |
probably benign |
Het |
Pcdhac2 |
G |
T |
18: 37,279,477 (GRCm39) |
G819V |
probably benign |
Het |
Pcdhga12 |
T |
G |
18: 37,901,132 (GRCm39) |
S655A |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,356,842 (GRCm39) |
I756V |
probably benign |
Het |
Plekhd1 |
T |
A |
12: 80,767,364 (GRCm39) |
S251T |
probably damaging |
Het |
Ppp2r1a |
A |
T |
17: 21,179,249 (GRCm39) |
T96S |
probably benign |
Het |
Qser1 |
A |
C |
2: 104,620,039 (GRCm39) |
S258A |
possibly damaging |
Het |
Rsph4a |
G |
A |
10: 33,785,324 (GRCm39) |
A412T |
probably benign |
Het |
Sanbr |
A |
T |
11: 23,556,759 (GRCm39) |
L407H |
probably damaging |
Het |
Sass6 |
T |
A |
3: 116,401,135 (GRCm39) |
C159S |
probably benign |
Het |
Scaf4 |
T |
C |
16: 90,048,848 (GRCm39) |
Q322R |
unknown |
Het |
Sema6d |
C |
T |
2: 124,498,821 (GRCm39) |
H244Y |
probably damaging |
Het |
Sigirr |
T |
G |
7: 140,672,632 (GRCm39) |
L163F |
probably damaging |
Het |
Spata31d1c |
C |
A |
13: 65,183,078 (GRCm39) |
L207I |
possibly damaging |
Het |
Tacstd2 |
A |
G |
6: 67,512,033 (GRCm39) |
F220L |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tnxb |
C |
A |
17: 34,902,392 (GRCm39) |
Q1082K |
probably damaging |
Het |
Trim41 |
GCCTAGGCGCCCA |
G |
11: 48,698,192 (GRCm39) |
|
probably benign |
Het |
Trpm6 |
C |
T |
19: 18,807,297 (GRCm39) |
R1014C |
probably damaging |
Het |
Ugt1a10 |
TTCATCA |
TTCA |
1: 88,143,880 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r61 |
T |
A |
7: 41,916,677 (GRCm39) |
M430K |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,917 (GRCm39) |
E779G |
probably damaging |
Het |
Zfp599 |
T |
C |
9: 22,165,165 (GRCm39) |
D70G |
probably benign |
Het |
Zmym1 |
A |
T |
4: 126,943,191 (GRCm39) |
I301N |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCATGAAACTGCCTTAGTGG -3'
(R):5'- TATTCGACACTTGTGAATGAGAGC -3'
Sequencing Primer
(F):5'- AAAGGGGTAAATGTGTCTCAGC -3'
(R):5'- CAGATCTCATCACAATTCAGCAGTGG -3'
|
Posted On |
2016-10-26 |