Incidental Mutation 'R5245:Bcas3'
ID |
401119 |
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 |
042816-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.768)
|
Stock # |
R5245 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85449912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 663
(N663K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074416
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000092822]
[ENSMUST00000108061]
[ENSMUST00000108062]
|
AlphaFold |
Q8CCN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000074875
AA Change: N663K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074416 Gene: ENSMUSG00000059439 AA Change: N663K
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: N648K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000090496 Gene: ENSMUSG00000059439 AA Change: N648K
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: N171K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000090497 Gene: ENSMUSG00000059439 AA Change: N171K
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 |
possibly damaging
Transcript: ENSMUST00000108061
AA Change: N663K
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103696 Gene: ENSMUSG00000059439 AA Change: N663K
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 |
possibly damaging
Transcript: ENSMUST00000108062
AA Change: N663K
PolyPhen 2
Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103697 Gene: ENSMUSG00000059439 AA Change: N663K
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 |
unknown
Transcript: ENSMUST00000142596
AA Change: N189K
|
SMART Domains |
Protein: ENSMUSP00000122571 Gene: ENSMUSG00000059439 AA Change: N189K
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: N427K
|
SMART Domains |
Protein: ENSMUSP00000122154 Gene: ENSMUSG00000059439 AA Change: N427K
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 |
|
Meta Mutation Damage Score |
0.1484 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
100% (51/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17b |
T |
A |
19: 21,661,624 (GRCm39) |
Y270* |
probably null |
Het |
Akap9 |
A |
T |
5: 4,026,209 (GRCm39) |
Q59L |
probably damaging |
Het |
Aloxe3 |
A |
T |
11: 69,020,502 (GRCm39) |
Q182L |
probably benign |
Het |
Arhgef5 |
G |
T |
6: 43,242,614 (GRCm39) |
|
probably benign |
Het |
Cimap3 |
T |
C |
3: 105,921,770 (GRCm39) |
H51R |
possibly damaging |
Het |
Cntfr |
A |
T |
4: 41,670,879 (GRCm39) |
W95R |
possibly damaging |
Het |
Dcun1d4 |
A |
G |
5: 73,714,657 (GRCm39) |
T275A |
probably benign |
Het |
Eps8l1 |
A |
G |
7: 4,473,873 (GRCm39) |
R227G |
probably damaging |
Het |
Ets2 |
G |
A |
16: 95,513,304 (GRCm39) |
W160* |
probably null |
Het |
Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
Fsip2 |
A |
G |
2: 82,823,505 (GRCm39) |
M6413V |
probably benign |
Het |
Gm14401 |
C |
T |
2: 176,778,471 (GRCm39) |
P186S |
probably damaging |
Het |
Hrc |
G |
A |
7: 44,984,855 (GRCm39) |
G2D |
probably damaging |
Het |
Kcnq3 |
A |
G |
15: 65,903,284 (GRCm39) |
V142A |
possibly damaging |
Het |
Lama3 |
G |
A |
18: 12,552,950 (GRCm39) |
C454Y |
probably damaging |
Het |
Lrrk2 |
A |
G |
15: 91,680,292 (GRCm39) |
T2068A |
probably damaging |
Het |
Mab21l2 |
T |
C |
3: 86,454,799 (GRCm39) |
E67G |
possibly damaging |
Het |
Map3k5 |
G |
A |
10: 20,016,437 (GRCm39) |
V1343I |
probably benign |
Het |
Mcm4 |
T |
A |
16: 15,448,289 (GRCm39) |
T423S |
probably benign |
Het |
Mmp16 |
A |
G |
4: 18,054,596 (GRCm39) |
|
probably benign |
Het |
Nat3 |
C |
T |
8: 68,000,832 (GRCm39) |
T237I |
probably benign |
Het |
Nol4 |
A |
T |
18: 22,828,179 (GRCm39) |
*484R |
probably null |
Het |
Nsmf |
A |
G |
2: 24,946,119 (GRCm39) |
E202G |
probably damaging |
Het |
Olfml2b |
T |
C |
1: 170,496,443 (GRCm39) |
V358A |
probably benign |
Het |
Or2v2 |
T |
A |
11: 49,004,116 (GRCm39) |
I146F |
probably benign |
Het |
Or4b1d |
T |
A |
2: 89,968,606 (GRCm39) |
K292N |
probably damaging |
Het |
Osbpl1a |
T |
C |
18: 12,891,910 (GRCm39) |
E466G |
probably damaging |
Het |
Pim3 |
A |
G |
15: 88,747,404 (GRCm39) |
E90G |
possibly damaging |
Het |
Recql5 |
T |
C |
11: 115,784,385 (GRCm39) |
E905G |
probably damaging |
Het |
Rnf31 |
T |
G |
14: 55,839,163 (GRCm39) |
L925R |
probably damaging |
Het |
Secisbp2l |
A |
G |
2: 125,589,511 (GRCm39) |
V679A |
probably damaging |
Het |
Setdb2 |
T |
A |
14: 59,663,943 (GRCm39) |
E68V |
probably null |
Het |
Shtn1 |
T |
A |
19: 59,020,652 (GRCm39) |
N190I |
possibly damaging |
Het |
Slc25a25 |
G |
A |
2: 32,311,340 (GRCm39) |
Q14* |
probably null |
Het |
Snrnp27 |
A |
G |
6: 86,659,941 (GRCm39) |
S18P |
unknown |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Tbx5 |
T |
C |
5: 120,021,230 (GRCm39) |
V412A |
possibly damaging |
Het |
Tcea3 |
A |
G |
4: 135,991,813 (GRCm39) |
T166A |
probably benign |
Het |
Tdrp |
A |
T |
8: 14,024,479 (GRCm39) |
|
probably benign |
Het |
Tent5a |
G |
T |
9: 85,208,401 (GRCm39) |
Q160K |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,333,464 (GRCm39) |
V624A |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,513,066 (GRCm39) |
D72G |
probably damaging |
Het |
Trim80 |
C |
A |
11: 115,332,398 (GRCm39) |
H197N |
probably damaging |
Het |
Zfp322a |
A |
T |
13: 23,541,156 (GRCm39) |
C195* |
probably null |
Het |
Zfp335 |
A |
G |
2: 164,736,678 (GRCm39) |
S986P |
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 |
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 |
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'- TGATCACTGTCTGTTTCACTGAAG -3'
(R):5'- AGCCTATGAACTGGCTCTATGG -3'
Sequencing Primer
(F):5'- GAAGATCTACATTACCTGTGCGGC -3'
(R):5'- CTATGGCCATTTACTCAGCAAG -3'
|
Posted On |
2016-07-06 |