Incidental Mutation 'R8334:Bcas3'
| ID |
644537 |
| 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 |
067862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
R8334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85467637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 687
(T687A)
|
| 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: T702A
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: T702A
| 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 |
possibly damaging
Transcript: ENSMUST00000092821
AA Change: T687A
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: T687A
| 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 |
possibly damaging
Transcript: ENSMUST00000092822
AA Change: T210A
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: T210A
| 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: T702A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: T702A
| 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: T702A
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: T702A
| 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: T228A
| 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: T466A
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,959,650 (GRCm39) |
S696T |
probably damaging |
Het |
| Abhd12 |
T |
C |
2: 150,700,373 (GRCm39) |
I75V |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,914,225 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
C |
T |
7: 44,554,135 (GRCm39) |
V499I |
possibly damaging |
Het |
| Arhgef16 |
T |
A |
4: 154,367,224 (GRCm39) |
K394* |
probably null |
Het |
| Armc2 |
A |
G |
10: 41,799,761 (GRCm39) |
F699S |
probably damaging |
Het |
| Atat1 |
C |
T |
17: 36,220,150 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,433,573 (GRCm39) |
S226P |
probably benign |
Het |
| Bmp2k |
T |
C |
5: 97,175,753 (GRCm39) |
M78T |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,791 (GRCm39) |
L746H |
probably damaging |
Het |
| Capn8 |
G |
A |
1: 182,438,670 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
T |
A |
17: 25,390,581 (GRCm39) |
F602I |
probably damaging |
Het |
| Celsr3 |
CGGGG |
CGGGGG |
9: 108,718,471 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,241,622 (GRCm39) |
F1504L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,787 (GRCm39) |
N77K |
probably benign |
Het |
| Crybb3 |
T |
A |
5: 113,223,845 (GRCm39) |
Q188L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,988,805 (GRCm39) |
H3258Q |
probably benign |
Het |
| Dnajb6 |
C |
T |
5: 29,986,238 (GRCm39) |
R269W |
unknown |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,531,248 (GRCm39) |
I279V |
probably benign |
Het |
| Ehbp1 |
C |
A |
11: 21,957,170 (GRCm39) |
R1173L |
probably damaging |
Het |
| Ehd4 |
T |
C |
2: 119,967,545 (GRCm39) |
E83G |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,938,777 (GRCm39) |
E544G |
probably benign |
Het |
| Esp23 |
A |
G |
17: 39,384,795 (GRCm39) |
V67A |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,785,857 (GRCm39) |
V726A |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,208,470 (GRCm39) |
W274* |
probably null |
Het |
| Filip1l |
T |
C |
16: 57,390,510 (GRCm39) |
I366T |
probably benign |
Het |
| Gm4841 |
T |
C |
18: 60,404,054 (GRCm39) |
D13G |
probably benign |
Het |
| Gtpbp2 |
T |
A |
17: 46,477,368 (GRCm39) |
F411Y |
possibly damaging |
Het |
| Kmt5b |
G |
T |
19: 3,864,795 (GRCm39) |
V620L |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,200 (GRCm39) |
Q313R |
probably benign |
Het |
| Lsm1 |
A |
G |
8: 26,292,047 (GRCm39) |
E108G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,325,901 (GRCm39) |
K5201E |
possibly damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,414 (GRCm39) |
E483G |
probably benign |
Het |
| Mettl25b |
C |
T |
3: 87,835,056 (GRCm39) |
V31I |
possibly damaging |
Het |
| Mki67 |
G |
T |
7: 135,298,245 (GRCm39) |
T2263K |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,330,756 (GRCm39) |
G1156S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,274,070 (GRCm39) |
M190K |
probably damaging |
Het |
| Nsmce3 |
A |
G |
7: 64,522,467 (GRCm39) |
V67A |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,882,478 (GRCm39) |
V741A |
probably benign |
Het |
| Olfm3 |
G |
T |
3: 114,916,206 (GRCm39) |
L379F |
probably damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,277 (GRCm39) |
S91P |
probably benign |
Het |
| Or8g21 |
T |
A |
9: 38,905,889 (GRCm39) |
I281F |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,577,853 (GRCm39) |
T744A |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,933,220 (GRCm39) |
T298A |
probably benign |
Het |
| Pou5f2 |
A |
G |
13: 78,173,392 (GRCm39) |
I111M |
probably benign |
Het |
| Pou6f2 |
C |
T |
13: 18,299,991 (GRCm39) |
R556H |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,830,635 (GRCm39) |
N44K |
probably benign |
Het |
| Rcor1 |
G |
A |
12: 111,059,529 (GRCm39) |
A148T |
|
Het |
| Rnh1 |
A |
G |
7: 140,748,544 (GRCm39) |
V11A |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,984,244 (GRCm39) |
F335L |
possibly damaging |
Het |
| Srrm2 |
T |
C |
17: 24,027,330 (GRCm39) |
V22A |
unknown |
Het |
| St7 |
A |
T |
6: 17,934,220 (GRCm39) |
H534L |
probably damaging |
Het |
| Swi5 |
T |
A |
2: 32,170,463 (GRCm39) |
|
probably benign |
Het |
| Syf2 |
T |
A |
4: 134,658,586 (GRCm39) |
H40Q |
probably benign |
Het |
| Tgtp2 |
G |
A |
11: 48,949,721 (GRCm39) |
L284F |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trbc1 |
A |
C |
6: 41,516,046 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
T |
3: 103,261,145 (GRCm39) |
T1115S |
probably benign |
Het |
| Ttc22 |
C |
A |
4: 106,496,115 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,638,374 (GRCm39) |
A13969T |
probably damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,795,882 (GRCm39) |
D90E |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,724,397 (GRCm39) |
V37A |
probably damaging |
Het |
| Vmn2r28 |
A |
C |
7: 5,487,059 (GRCm39) |
C535G |
probably damaging |
Het |
| Wdr36 |
A |
G |
18: 32,992,346 (GRCm39) |
T628A |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,413,047 (GRCm39) |
V142M |
probably damaging |
Het |
| Wnk2 |
A |
T |
13: 49,203,958 (GRCm39) |
|
probably null |
Het |
| Xkr7 |
C |
T |
2: 152,896,883 (GRCm39) |
T579I |
probably 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 |
|
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'- AGCCTTCTGAGTAGCATGCCT -3'
(R):5'- GGAAATAATAATAATACCCAGTGACCA -3'
Sequencing Primer
(F):5'- ATGCCTGGCCAGCATTTACTG -3'
(R):5'- AATACCCAGTGACCAATTCTCTTCG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation