Incidental Mutation 'IGL03085:Bcas3'
| ID |
418052 |
| 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 # |
IGL03085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85367609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 77
(D77G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114415
(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: D323G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: D323G
| 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: D323G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: D323G
| 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: D323G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: D323G
| 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 damaging
Transcript: ENSMUST00000108061
AA Change: D323G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: D323G
| 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: D323G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: D323G
| 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: ENSMUST00000144276
AA Change: D77G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114415
Gene: ENSMUSG00000059439
AA Change: D77G
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
94 |
134 |
7.7e-1 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154396
AA Change: D102G
|
| SMART Domains |
Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: D102G
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,881 (GRCm39) |
H230Q |
probably benign |
Het |
| Aagab |
T |
A |
9: 63,546,316 (GRCm39) |
|
probably benign |
Het |
| Actl11 |
G |
T |
9: 107,806,749 (GRCm39) |
K357N |
probably damaging |
Het |
| Aktip |
A |
G |
8: 91,852,651 (GRCm39) |
|
probably null |
Het |
| Amtn |
A |
G |
5: 88,529,501 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,919,532 (GRCm39) |
M58L |
probably benign |
Het |
| Art2b |
T |
A |
7: 101,229,785 (GRCm39) |
Y38F |
probably damaging |
Het |
| Asb10 |
T |
C |
5: 24,744,601 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,395,471 (GRCm39) |
D1699E |
possibly damaging |
Het |
| Azi2 |
A |
C |
9: 117,888,214 (GRCm39) |
K259T |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,903,945 (GRCm39) |
R1246H |
probably damaging |
Het |
| Cdh13 |
C |
A |
8: 120,015,463 (GRCm39) |
D559E |
probably damaging |
Het |
| Chrm3 |
C |
T |
13: 9,927,570 (GRCm39) |
A489T |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,126,967 (GRCm39) |
Y404N |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,015 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,272,198 (GRCm39) |
K731* |
probably null |
Het |
| Corin |
A |
T |
5: 72,511,273 (GRCm39) |
C360S |
probably damaging |
Het |
| Cyp1a1 |
A |
C |
9: 57,608,995 (GRCm39) |
H292P |
possibly damaging |
Het |
| Dennd5b |
A |
G |
6: 148,928,893 (GRCm39) |
V760A |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,565,526 (GRCm39) |
D842G |
possibly damaging |
Het |
| Emp2 |
C |
A |
16: 10,105,910 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,969,093 (GRCm39) |
R136C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,072 (GRCm39) |
M2214L |
probably benign |
Het |
| Flnb |
G |
A |
14: 7,882,211 (GRCm38) |
R304H |
probably benign |
Het |
| G6pd2 |
A |
T |
5: 61,967,645 (GRCm39) |
E473D |
probably benign |
Het |
| Gpx8 |
A |
G |
13: 113,179,795 (GRCm39) |
Y169H |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,461 (GRCm39) |
S19P |
possibly damaging |
Het |
| Ikbkb |
G |
T |
8: 23,172,802 (GRCm39) |
N139K |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,686,115 (GRCm39) |
T720S |
probably benign |
Het |
| Kmt2d |
C |
A |
15: 98,737,821 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,374,575 (GRCm39) |
P169S |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,655 (GRCm39) |
K1354I |
possibly damaging |
Het |
| Mapk9 |
A |
T |
11: 49,757,865 (GRCm39) |
D103V |
probably damaging |
Het |
| Mrpl46 |
A |
T |
7: 78,431,333 (GRCm39) |
I75N |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,511 (GRCm39) |
I177N |
probably damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,479 (GRCm39) |
E16G |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,788,959 (GRCm39) |
M162I |
probably benign |
Het |
| Otog |
G |
T |
7: 45,955,346 (GRCm39) |
|
probably null |
Het |
| Pex11a |
A |
G |
7: 79,387,523 (GRCm39) |
L103P |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,358,305 (GRCm39) |
T687A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,989 (GRCm39) |
I302V |
probably null |
Het |
| Prdm11 |
C |
A |
2: 92,805,304 (GRCm39) |
V549F |
possibly damaging |
Het |
| Prss54 |
G |
A |
8: 96,292,258 (GRCm39) |
P107L |
probably benign |
Het |
| Rasa3 |
T |
A |
8: 13,635,690 (GRCm39) |
N422I |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,460,589 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
T |
14: 59,131,156 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6ka2 |
G |
A |
17: 7,562,679 (GRCm39) |
|
probably null |
Het |
| Sphkap |
T |
A |
1: 83,258,075 (GRCm39) |
I223F |
possibly damaging |
Het |
| Srm |
T |
C |
4: 148,677,838 (GRCm39) |
F159L |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,644,266 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,638,027 (GRCm39) |
S395P |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,921,260 (GRCm39) |
|
probably benign |
Het |
| Tmub1 |
C |
T |
5: 24,651,096 (GRCm39) |
G188S |
probably damaging |
Het |
| Trim66 |
T |
A |
7: 109,057,952 (GRCm39) |
I877F |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,029,812 (GRCm39) |
E471G |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,481 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,689,615 (GRCm39) |
D39E |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 109,723,805 (GRCm39) |
P240Q |
probably damaging |
Het |
| Zc3h12a |
A |
T |
4: 125,020,813 (GRCm39) |
V10D |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,746,350 (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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation