Incidental Mutation 'IGL01712:Bcas3'
| ID |
104804 |
| 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 # |
IGL01712
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85471874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 728
(I728V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000092822]
[ENSMUST00000108061]
[ENSMUST00000108062]
|
| AlphaFold |
Q8CCN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074875
AA Change: I728V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: I728V
| 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: I713V
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: I713V
| 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: I236V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: I236V
| 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: I728V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: I728V
| 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: I728V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: I728V
| 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: ENSMUST00000133194
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000142596
AA Change: I254V
|
| SMART Domains |
Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439
AA Change: I254V
| 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: I492V
|
| SMART Domains |
Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: I492V
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
A |
3: 59,776,321 (GRCm39) |
I164N |
possibly damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,865,360 (GRCm39) |
V161A |
probably benign |
Het |
| Arhgdib |
G |
A |
6: 136,901,195 (GRCm39) |
T178M |
probably damaging |
Het |
| Atp11a |
T |
A |
8: 12,901,138 (GRCm39) |
I989K |
probably benign |
Het |
| Bcam |
T |
C |
7: 19,492,692 (GRCm39) |
S498G |
probably damaging |
Het |
| Cep57 |
G |
T |
9: 13,724,713 (GRCm39) |
P119Q |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,108,804 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
T |
A |
17: 72,106,036 (GRCm39) |
I73N |
probably damaging |
Het |
| Cpa4 |
A |
G |
6: 30,590,815 (GRCm39) |
D371G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,462,429 (GRCm39) |
S3721P |
probably benign |
Het |
| Fcrla |
T |
C |
1: 170,749,192 (GRCm39) |
|
probably null |
Het |
| Foxg1 |
T |
C |
12: 49,432,403 (GRCm39) |
S379P |
possibly damaging |
Het |
| Gatm |
T |
A |
2: 122,431,306 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Grid2 |
A |
T |
6: 64,642,899 (GRCm39) |
D887V |
possibly damaging |
Het |
| Gtpbp6 |
A |
T |
5: 110,252,245 (GRCm39) |
I429N |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,323,038 (GRCm39) |
|
probably benign |
Het |
| Irs4 |
T |
C |
X: 140,505,395 (GRCm39) |
N934D |
unknown |
Het |
| Kif16b |
T |
A |
2: 142,490,391 (GRCm39) |
N1257I |
probably damaging |
Het |
| L1cam |
T |
C |
X: 72,908,044 (GRCm39) |
Y169C |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,152,133 (GRCm39) |
M821K |
probably damaging |
Het |
| Lig3 |
A |
G |
11: 82,680,367 (GRCm39) |
|
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,522,063 (GRCm39) |
D32E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,834,019 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
T |
C |
3: 51,571,992 (GRCm39) |
V40A |
probably damaging |
Het |
| Mov10l1 |
T |
C |
15: 88,908,969 (GRCm39) |
S997P |
probably damaging |
Het |
| Mycbpap |
G |
T |
11: 94,403,481 (GRCm39) |
H187Q |
possibly damaging |
Het |
| Onecut2 |
T |
A |
18: 64,519,673 (GRCm39) |
S478T |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,848 (GRCm39) |
T267S |
probably benign |
Het |
| Or52h7 |
T |
C |
7: 104,214,226 (GRCm39) |
V266A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,306 (GRCm39) |
I229F |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,881,886 (GRCm39) |
V933A |
probably benign |
Het |
| Phldb2 |
A |
T |
16: 45,571,792 (GRCm39) |
I1200N |
probably damaging |
Het |
| Pla2g4e |
C |
A |
2: 120,019,884 (GRCm39) |
|
probably null |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Rhot2 |
A |
G |
17: 26,060,334 (GRCm39) |
|
probably null |
Het |
| Serpina3f |
C |
T |
12: 104,184,657 (GRCm39) |
P267L |
probably damaging |
Het |
| Sppl2a |
C |
T |
2: 126,746,823 (GRCm39) |
|
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,725 (GRCm39) |
M56K |
possibly damaging |
Het |
| Tbxas1 |
A |
G |
6: 39,057,994 (GRCm39) |
T450A |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,003,451 (GRCm39) |
S87P |
probably damaging |
Het |
| Them7 |
T |
A |
2: 105,209,230 (GRCm39) |
F183L |
possibly damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,720,074 (GRCm39) |
T116A |
probably damaging |
Het |
| Tomm40 |
G |
T |
7: 19,437,288 (GRCm39) |
S224R |
probably benign |
Het |
| Top3a |
A |
T |
11: 60,652,562 (GRCm39) |
I84N |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,393 (GRCm39) |
T79A |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,909,661 (GRCm39) |
Y62F |
probably damaging |
Het |
| Zbtb42 |
T |
C |
12: 112,646,718 (GRCm39) |
C298R |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,836 (GRCm39) |
E102K |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation