Incidental Mutation 'R2107:Bcas3'
| ID |
232186 |
| 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 |
| MMRRC Submission |
040111-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
R2107 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85348704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 199
(V199I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000108056]
[ENSMUST00000108061]
[ENSMUST00000108062]
|
| AlphaFold |
Q8CCN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074875
AA Change: V199I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: V199I
| 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: V199I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: V199I
| 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: ENSMUST00000108056
AA Change: V199I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: V199I
| 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: V199I
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: V199I
| 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: V199I
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: V199I
| 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 |
|
| Meta Mutation Damage Score |
0.1086 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,685,744 (GRCm39) |
L364Q |
probably damaging |
Het |
| A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
| Ace2 |
A |
G |
X: 162,923,728 (GRCm39) |
N24S |
probably benign |
Het |
| Acp2 |
G |
A |
2: 91,033,940 (GRCm39) |
|
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Cblb |
T |
A |
16: 51,973,079 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,887,808 (GRCm39) |
D1557E |
probably benign |
Het |
| Cdc20 |
T |
C |
4: 118,290,710 (GRCm39) |
Y430C |
probably damaging |
Het |
| Cdk5rap1 |
C |
T |
2: 154,195,166 (GRCm39) |
D350N |
probably benign |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,833 (GRCm39) |
|
probably benign |
Het |
| Chia1 |
T |
A |
3: 106,036,156 (GRCm39) |
Y185* |
probably null |
Het |
| Cmtm8 |
A |
T |
9: 114,625,176 (GRCm39) |
V85D |
possibly damaging |
Het |
| Cplx4 |
A |
G |
18: 66,089,964 (GRCm39) |
S152P |
probably benign |
Het |
| Crmp1 |
G |
T |
5: 37,399,838 (GRCm39) |
R117L |
probably benign |
Het |
| Csad |
G |
C |
15: 102,087,469 (GRCm39) |
L365V |
probably null |
Het |
| Dyrk1a |
C |
T |
16: 94,487,386 (GRCm39) |
T532M |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fan1 |
T |
G |
7: 64,016,536 (GRCm39) |
R529S |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,737,528 (GRCm39) |
W173R |
probably damaging |
Het |
| Gm9611 |
A |
T |
14: 42,116,611 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gnal |
T |
A |
18: 67,346,649 (GRCm39) |
L257Q |
probably damaging |
Het |
| Hint3 |
A |
T |
10: 30,494,252 (GRCm39) |
F33I |
probably damaging |
Het |
| Ipcef1 |
A |
G |
10: 6,840,501 (GRCm39) |
S403P |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,514,822 (GRCm39) |
N3007S |
probably benign |
Het |
| Kpna3 |
T |
C |
14: 61,607,933 (GRCm39) |
D424G |
possibly damaging |
Het |
| Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
| Lamc2 |
A |
G |
1: 153,030,132 (GRCm39) |
|
probably benign |
Het |
| Lmtk3 |
G |
T |
7: 45,443,393 (GRCm39) |
C692F |
possibly damaging |
Het |
| Lrguk |
T |
C |
6: 34,039,296 (GRCm39) |
M269T |
probably benign |
Het |
| Lrrc19 |
T |
A |
4: 94,527,531 (GRCm39) |
T227S |
probably benign |
Het |
| Lrrk1 |
C |
A |
7: 65,929,030 (GRCm39) |
D1201Y |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,423,905 (GRCm39) |
Y588N |
probably damaging |
Het |
| Mmp1b |
A |
G |
9: 7,369,310 (GRCm39) |
W346R |
probably damaging |
Het |
| Mpo |
T |
C |
11: 87,686,901 (GRCm39) |
Y177H |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,660,717 (GRCm39) |
K2166R |
probably damaging |
Het |
| Myo15a |
T |
C |
11: 60,382,636 (GRCm39) |
Y1544H |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Nedd9 |
A |
T |
13: 41,492,455 (GRCm39) |
C12* |
probably null |
Het |
| Neu1 |
G |
A |
17: 35,153,374 (GRCm39) |
R299Q |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,894,097 (GRCm39) |
V172I |
probably damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,436 (GRCm39) |
|
probably null |
Het |
| Ogg1 |
C |
A |
6: 113,306,254 (GRCm39) |
N150K |
probably damaging |
Het |
| Or1j4 |
C |
A |
2: 36,740,355 (GRCm39) |
A99E |
possibly damaging |
Het |
| Or1p1 |
T |
C |
11: 74,180,216 (GRCm39) |
V248A |
probably damaging |
Het |
| Or6c219 |
A |
G |
10: 129,781,581 (GRCm39) |
S2P |
probably damaging |
Het |
| Pck1 |
G |
C |
2: 172,995,861 (GRCm39) |
E120Q |
probably benign |
Het |
| Pde11a |
A |
G |
2: 76,168,266 (GRCm39) |
V229A |
probably damaging |
Het |
| Pias2 |
T |
C |
18: 77,185,167 (GRCm39) |
F83L |
probably benign |
Het |
| Plagl1 |
A |
C |
10: 13,004,391 (GRCm39) |
|
probably benign |
Het |
| Plin3 |
A |
T |
17: 56,591,391 (GRCm39) |
S130T |
probably benign |
Het |
| Rcc2 |
A |
G |
4: 140,448,496 (GRCm39) |
Y515C |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,124,079 (GRCm39) |
K621E |
possibly damaging |
Het |
| Rnf6 |
G |
A |
5: 146,148,091 (GRCm39) |
T309I |
probably damaging |
Het |
| Rpusd3 |
G |
T |
6: 113,392,523 (GRCm39) |
T335N |
probably damaging |
Het |
| Scn8a |
A |
T |
15: 100,916,244 (GRCm39) |
I1218F |
probably damaging |
Het |
| Slc23a1 |
T |
A |
18: 35,758,879 (GRCm39) |
Q104L |
possibly damaging |
Het |
| Slc34a3 |
A |
T |
2: 25,120,999 (GRCm39) |
V363D |
probably damaging |
Het |
| Smap1 |
A |
T |
1: 23,887,535 (GRCm39) |
M248K |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,318,113 (GRCm39) |
|
probably null |
Het |
| Tasor |
T |
A |
14: 27,183,744 (GRCm39) |
|
probably null |
Het |
| Tbc1d1 |
T |
G |
5: 64,442,048 (GRCm39) |
N689K |
probably benign |
Het |
| Tff2 |
T |
C |
17: 31,361,256 (GRCm39) |
E99G |
possibly damaging |
Het |
| Tjp3 |
T |
C |
10: 81,116,378 (GRCm39) |
N239D |
possibly damaging |
Het |
| Trim37 |
G |
A |
11: 87,050,651 (GRCm39) |
R230Q |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,989,546 (GRCm39) |
M2090T |
probably benign |
Het |
| Unc13a |
T |
C |
8: 72,108,895 (GRCm39) |
|
probably null |
Het |
| Usp43 |
GC |
G |
11: 67,746,566 (GRCm39) |
|
probably null |
Het |
| Utrn |
C |
A |
10: 12,312,108 (GRCm39) |
D616Y |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,315 (GRCm39) |
E829G |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,393,762 (GRCm39) |
|
probably benign |
Het |
| Zfp26 |
A |
T |
9: 20,353,533 (GRCm39) |
D85E |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,808,593 (GRCm39) |
F1484I |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCACTTTTCAGCTGTAGAATAAC -3'
(R):5'- ATGGTGCCCACAGGAATCAC -3'
Sequencing Primer
(F):5'- CAGCTGTAGAATAACTGTCACTTTC -3'
(R):5'- TGCCCACAGGAATCACAGGAG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation