Incidental Mutation 'R8716:Bcas3'
| ID |
669899 |
| 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 |
068569-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
R8716 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85471868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 711
(V711I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000092822]
[ENSMUST00000108061]
[ENSMUST00000108062]
|
| AlphaFold |
Q8CCN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074875
AA Change: V726I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: V726I
| 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: V711I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: V711I
| 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: V234I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: V234I
| 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: V726I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: V726I
| 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: V726I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: V726I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439
AA Change: V252I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: V490I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,243,774 (GRCm39) |
Y1879C |
probably benign |
Het |
| Abce1 |
A |
T |
8: 80,427,784 (GRCm39) |
I168N |
possibly damaging |
Het |
| Acan |
G |
A |
7: 78,762,438 (GRCm39) |
R2004H |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,307,883 (GRCm39) |
L340Q |
probably damaging |
Het |
| Actmap |
C |
A |
7: 26,896,631 (GRCm39) |
P65T |
probably damaging |
Het |
| Adamts2 |
T |
A |
11: 50,664,091 (GRCm39) |
N342K |
probably damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,265,435 (GRCm39) |
D725V |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,986,438 (GRCm39) |
L2574Q |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,736,488 (GRCm39) |
L3132* |
probably null |
Het |
| Ap3b2 |
T |
G |
7: 81,126,901 (GRCm39) |
E283A |
probably benign |
Het |
| Asb17 |
A |
T |
3: 153,559,151 (GRCm39) |
L287F |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,789,468 (GRCm39) |
N1541K |
probably benign |
Het |
| Ccdc82 |
T |
G |
9: 13,252,922 (GRCm39) |
Y262* |
probably null |
Het |
| Cd209d |
CAT |
C |
8: 3,923,772 (GRCm39) |
|
probably null |
Het |
| Cdc23 |
GAGACTACCGAAGA |
GAGA |
18: 34,784,735 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,800,494 (GRCm39) |
L1571F |
probably benign |
Het |
| Clca3b |
C |
T |
3: 144,550,355 (GRCm39) |
V197I |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,838,840 (GRCm39) |
S932G |
probably benign |
Het |
| Cyp3a59 |
T |
A |
5: 146,033,411 (GRCm39) |
D182E |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,710,243 (GRCm39) |
E119G |
probably damaging |
Het |
| Dnah1 |
A |
G |
14: 30,989,941 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,577,673 (GRCm39) |
L1761* |
probably null |
Het |
| Ehd2 |
A |
G |
7: 15,698,106 (GRCm39) |
S44P |
probably benign |
Het |
| Exoc2 |
T |
A |
13: 31,095,227 (GRCm39) |
H223L |
probably damaging |
Het |
| Fam217a |
G |
A |
13: 35,108,248 (GRCm39) |
|
probably benign |
Het |
| Farp1 |
A |
G |
14: 121,479,855 (GRCm39) |
N382S |
probably benign |
Het |
| Gbf1 |
T |
A |
19: 46,272,460 (GRCm39) |
L1633Q |
probably damaging |
Het |
| Gpn1 |
C |
T |
5: 31,656,642 (GRCm39) |
T115I |
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,688,950 (GRCm39) |
D600G |
probably damaging |
Het |
| Ighv16-1 |
A |
C |
12: 114,032,616 (GRCm39) |
M62R |
probably benign |
Het |
| Igsf3 |
T |
G |
3: 101,334,739 (GRCm39) |
V272G |
probably damaging |
Het |
| Itgb2 |
T |
C |
10: 77,393,787 (GRCm39) |
V409A |
probably damaging |
Het |
| Kcnh8 |
C |
T |
17: 53,284,780 (GRCm39) |
P917S |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,844,477 (GRCm39) |
T114A |
probably damaging |
Het |
| Krt35 |
A |
G |
11: 99,987,011 (GRCm39) |
M1T |
probably null |
Het |
| Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,442,933 (GRCm39) |
I798T |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,274,138 (GRCm39) |
T3971S |
probably benign |
Het |
| LTO1 |
G |
T |
7: 144,468,930 (GRCm39) |
|
probably benign |
Het |
| Mcc |
C |
A |
18: 44,582,403 (GRCm39) |
V758F |
possibly damaging |
Het |
| Naip2 |
C |
T |
13: 100,280,914 (GRCm39) |
V1433I |
probably benign |
Het |
| Ndfip1 |
T |
C |
18: 38,585,384 (GRCm39) |
F133L |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,752,985 (GRCm39) |
E466V |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,388,908 (GRCm39) |
D112G |
probably damaging |
Het |
| Opn4 |
G |
T |
14: 34,315,819 (GRCm39) |
R405S |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,185 (GRCm39) |
S160P |
probably damaging |
Het |
| Or2i1 |
C |
T |
17: 37,508,299 (GRCm39) |
V112M |
possibly damaging |
Het |
| Or4c110 |
T |
C |
2: 88,832,060 (GRCm39) |
T191A |
|
Het |
| Or7e168 |
C |
T |
9: 19,720,165 (GRCm39) |
L184F |
probably damaging |
Het |
| Pde11a |
T |
A |
2: 75,848,238 (GRCm39) |
D863V |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekhf1 |
A |
T |
7: 37,921,322 (GRCm39) |
L82Q |
probably damaging |
Het |
| Pou4f3 |
G |
T |
18: 42,528,593 (GRCm39) |
D179Y |
possibly damaging |
Het |
| Ppp1r12a |
G |
A |
10: 108,096,749 (GRCm39) |
R713H |
probably damaging |
Het |
| Psg17 |
C |
A |
7: 18,555,310 (GRCm39) |
G11W |
probably benign |
Het |
| Ptprh |
A |
T |
7: 4,567,273 (GRCm39) |
V533D |
probably damaging |
Het |
| Ptprn2 |
A |
G |
12: 117,219,168 (GRCm39) |
D933G |
possibly damaging |
Het |
| Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
| Rfx6 |
A |
C |
10: 51,557,968 (GRCm39) |
H147P |
probably damaging |
Het |
| Rprd2 |
T |
C |
3: 95,684,105 (GRCm39) |
Y310C |
probably damaging |
Het |
| Samd11 |
A |
G |
4: 156,333,727 (GRCm39) |
F201S |
probably benign |
Het |
| Sox7 |
A |
G |
14: 64,186,037 (GRCm39) |
T358A |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,339,935 (GRCm39) |
T364M |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,597,266 (GRCm39) |
L19882F |
probably damaging |
Het |
| Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,196,164 (GRCm39) |
W1267R |
unknown |
Het |
| Usp42 |
G |
A |
5: 143,703,696 (GRCm39) |
P456S |
probably damaging |
Het |
| Vmn1r235 |
T |
C |
17: 21,482,554 (GRCm39) |
V293A |
possibly damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,924,343 (GRCm39) |
H47Q |
probably damaging |
Het |
| Vps13d |
T |
A |
4: 144,802,348 (GRCm39) |
T3503S |
|
Het |
| Vwa5b2 |
T |
A |
16: 20,415,026 (GRCm39) |
N349K |
probably benign |
Het |
| Zeb1 |
A |
T |
18: 5,767,958 (GRCm39) |
Y823F |
probably damaging |
Het |
| Zfp273 |
T |
A |
13: 67,974,053 (GRCm39) |
C394S |
probably damaging |
Het |
| Zfp286 |
G |
T |
11: 62,671,817 (GRCm39) |
A147D |
unknown |
Het |
| Zfp831 |
A |
G |
2: 174,547,049 (GRCm39) |
T1411A |
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 |
|
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 |
|
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'- AGTCCTCTGCAAGAACAGTGC -3'
(R):5'- GTATCAAAGTCCAAGAGCGGCTG -3'
Sequencing Primer
(F):5'- GTGCATGCTCTAAACCACTGAG -3'
(R):5'- TCCAAGAGCGGCTGTGGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation