Incidental Mutation 'R2215:Bcas3'
ID |
241105 |
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 |
040217-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.768)
|
Stock # |
R2215 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 85692769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 862
(S862P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000092822]
[ENSMUST00000108061]
[ENSMUST00000108062]
|
AlphaFold |
Q8CCN5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074875
AA Change: S877P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074416 Gene: ENSMUSG00000059439 AA Change: S877P
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: S862P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000090496 Gene: ENSMUSG00000059439 AA Change: S862P
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: ENSMUST00000092822
AA Change: S385P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000090497 Gene: ENSMUSG00000059439 AA Change: S385P
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 benign
Transcript: ENSMUST00000108061
AA Change: S877P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000103696 Gene: ENSMUSG00000059439 AA Change: S877P
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: S877P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000103697 Gene: ENSMUSG00000059439 AA Change: S877P
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: ENSMUST00000128213
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140673
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136117
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154396
AA Change: S641P
|
SMART Domains |
Protein: ENSMUSP00000122154 Gene: ENSMUSG00000059439 AA Change: S641P
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 |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000142596
AA Change: S403P
|
SMART Domains |
Protein: ENSMUSP00000122571 Gene: ENSMUSG00000059439 AA Change: S403P
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: ENSMUST00000149662
AA Change: S41P
|
SMART Domains |
Protein: ENSMUSP00000120891 Gene: ENSMUSG00000059439 AA Change: S41P
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130343
|
Meta Mutation Damage Score |
0.0787 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,254,619 (GRCm39) |
S1899T |
probably damaging |
Het |
Accs |
G |
T |
2: 93,672,243 (GRCm39) |
N208K |
probably benign |
Het |
Actn4 |
C |
A |
7: 28,618,178 (GRCm39) |
V22L |
possibly damaging |
Het |
Adam21 |
A |
G |
12: 81,607,064 (GRCm39) |
S233P |
probably damaging |
Het |
Adrm1b |
G |
A |
3: 92,335,730 (GRCm39) |
A324V |
probably damaging |
Het |
Agmat |
C |
T |
4: 141,476,899 (GRCm39) |
R102C |
probably benign |
Het |
Akap8l |
T |
C |
17: 32,540,569 (GRCm39) |
E608G |
possibly damaging |
Het |
Arap2 |
T |
C |
5: 62,834,519 (GRCm39) |
I788V |
probably damaging |
Het |
Arhgef12 |
G |
T |
9: 42,917,167 (GRCm39) |
H391N |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,187,529 (GRCm39) |
H255Q |
possibly damaging |
Het |
Baz1a |
G |
A |
12: 55,022,154 (GRCm39) |
R43* |
probably null |
Het |
Blm |
A |
T |
7: 80,149,595 (GRCm39) |
H671Q |
possibly damaging |
Het |
Bmp8a |
C |
T |
4: 123,218,911 (GRCm39) |
V166I |
probably benign |
Het |
Cep120 |
G |
T |
18: 53,860,707 (GRCm39) |
P241Q |
probably damaging |
Het |
Col14a1 |
G |
A |
15: 55,244,238 (GRCm39) |
G437E |
unknown |
Het |
Cyp2a5 |
T |
C |
7: 26,539,900 (GRCm39) |
L3S |
probably damaging |
Het |
D16Ertd472e |
T |
C |
16: 78,342,155 (GRCm39) |
T242A |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,405,917 (GRCm39) |
|
probably null |
Het |
Ddx20 |
A |
T |
3: 105,587,656 (GRCm39) |
|
probably benign |
Het |
Eif4enif1 |
A |
G |
11: 3,177,476 (GRCm39) |
S185G |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,841,421 (GRCm39) |
|
probably benign |
Het |
Fam117b |
T |
A |
1: 60,008,219 (GRCm39) |
I351K |
probably damaging |
Het |
Fbxo31 |
T |
C |
8: 122,293,050 (GRCm39) |
I112V |
probably benign |
Het |
Galntl5 |
A |
T |
5: 25,403,476 (GRCm39) |
N149I |
probably damaging |
Het |
Gja8 |
A |
T |
3: 96,827,218 (GRCm39) |
F148Y |
probably damaging |
Het |
Gpatch1 |
A |
T |
7: 34,993,252 (GRCm39) |
L531Q |
possibly damaging |
Het |
Gprin1 |
G |
A |
13: 54,888,046 (GRCm39) |
T76M |
probably damaging |
Het |
Htr4 |
T |
A |
18: 62,546,787 (GRCm39) |
C113* |
probably null |
Het |
Igf1r |
T |
A |
7: 67,814,982 (GRCm39) |
D294E |
probably benign |
Het |
Kdm6b |
G |
A |
11: 69,295,870 (GRCm39) |
P799L |
unknown |
Het |
Lat |
A |
T |
7: 125,967,137 (GRCm39) |
V139E |
probably damaging |
Het |
Lrrc34 |
G |
A |
3: 30,697,678 (GRCm39) |
R51C |
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,892,322 (GRCm39) |
S978P |
probably benign |
Het |
Masp1 |
T |
A |
16: 23,271,271 (GRCm39) |
D659V |
possibly damaging |
Het |
Mcam |
A |
T |
9: 44,051,250 (GRCm39) |
R415* |
probably null |
Het |
Mtmr10 |
A |
G |
7: 63,987,403 (GRCm39) |
T648A |
probably benign |
Het |
Myh2 |
T |
C |
11: 67,082,563 (GRCm39) |
W1378R |
probably benign |
Het |
Nipsnap2 |
A |
G |
5: 129,816,649 (GRCm39) |
E64G |
probably damaging |
Het |
Or4a68 |
T |
C |
2: 89,270,381 (GRCm39) |
M81V |
probably benign |
Het |
Or52n4b |
T |
C |
7: 108,144,095 (GRCm39) |
L119P |
probably damaging |
Het |
Or6c3 |
A |
T |
10: 129,309,289 (GRCm39) |
I243F |
probably damaging |
Het |
Or9s27 |
G |
A |
1: 92,516,708 (GRCm39) |
V219I |
probably benign |
Het |
Pcdhb8 |
T |
G |
18: 37,490,127 (GRCm39) |
S602A |
probably damaging |
Het |
Peg10 |
A |
T |
6: 4,756,918 (GRCm39) |
|
probably benign |
Het |
Pld1 |
A |
T |
3: 28,132,542 (GRCm39) |
I577F |
probably benign |
Het |
Plekhm1 |
A |
T |
11: 103,267,811 (GRCm39) |
I720N |
probably damaging |
Het |
Ppp2r1a |
A |
G |
17: 21,182,005 (GRCm39) |
|
probably null |
Het |
Retreg3 |
G |
T |
11: 101,010,459 (GRCm39) |
Y49* |
probably null |
Het |
Rrp36 |
T |
C |
17: 46,983,746 (GRCm39) |
E22G |
possibly damaging |
Het |
Sec14l2 |
C |
A |
11: 4,059,169 (GRCm39) |
A167S |
probably damaging |
Het |
Sema5b |
A |
G |
16: 35,480,585 (GRCm39) |
T751A |
probably damaging |
Het |
Smarcc1 |
C |
A |
9: 110,066,907 (GRCm39) |
|
probably benign |
Het |
Smox |
T |
C |
2: 131,362,190 (GRCm39) |
|
probably null |
Het |
Spats2l |
A |
T |
1: 57,985,575 (GRCm39) |
T543S |
possibly damaging |
Het |
Sppl2a |
G |
T |
2: 126,769,754 (GRCm39) |
T34K |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,138,602 (GRCm39) |
|
probably benign |
Het |
Tet2 |
T |
A |
3: 133,192,362 (GRCm39) |
I691F |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,923,114 (GRCm39) |
Y2566H |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,570,853 (GRCm39) |
E26680G |
probably damaging |
Het |
Txlna |
T |
C |
4: 129,533,111 (GRCm39) |
E139G |
possibly damaging |
Het |
Ubap2 |
T |
C |
4: 41,196,483 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
T |
2: 69,809,661 (GRCm39) |
|
probably null |
Het |
Usp37 |
A |
C |
1: 74,483,685 (GRCm39) |
F844V |
probably damaging |
Het |
Usp6nl |
A |
G |
2: 6,429,150 (GRCm39) |
D204G |
probably damaging |
Het |
Vmn1r230 |
T |
C |
17: 21,067,684 (GRCm39) |
I291T |
probably benign |
Het |
Zfp229 |
T |
G |
17: 21,965,258 (GRCm39) |
V496G |
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 |
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'- GAAGGTACAGACTCAACATCGTC -3'
(R):5'- ATGCTGCTCTAGGTAGGAGAG -3'
Sequencing Primer
(F):5'- AGACTCAACATCGTCTGTCCTG -3'
(R):5'- CTCTAGGTAGGAGAGGGGGTTC -3'
|
Posted On |
2014-10-15 |