Incidental Mutation 'PIT4377001:Bcas3'
| ID |
554940 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.768)
|
| Stock # |
PIT4377001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
85243993-85716884 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85386668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 368
(T368S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074875]
[ENSMUST00000092821]
[ENSMUST00000108056]
[ENSMUST00000108061]
[ENSMUST00000108062]
[ENSMUST00000144276]
|
| AlphaFold |
Q8CCN5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074875
AA Change: T368S
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: T368S
| 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: T368S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: T368S
| 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: ENSMUST00000108056
AA Change: T368S
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: T368S
| 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 damaging
Transcript: ENSMUST00000108061
AA Change: T368S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: T368S
| 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: T368S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: T368S
| 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 |
probably damaging
Transcript: ENSMUST00000144276
AA Change: T122S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114415
Gene: ENSMUSG00000059439
AA Change: T122S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
94 |
134 |
7.7e-1 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: T147S
| 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: 92.9%
- 3x: 90.8%
- 10x: 85.9%
- 20x: 75.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
T |
C |
4: 39,451,129 (GRCm39) |
C112R |
possibly damaging |
Het |
| Acadl |
G |
A |
1: 66,877,564 (GRCm39) |
T329M |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,677,104 (GRCm39) |
L1909P |
probably damaging |
Het |
| Aff3 |
A |
C |
1: 38,578,044 (GRCm39) |
V31G |
probably damaging |
Het |
| Bag3 |
A |
G |
7: 128,147,441 (GRCm39) |
D352G |
probably damaging |
Het |
| Bmp3 |
A |
G |
5: 99,027,608 (GRCm39) |
I434V |
unknown |
Het |
| Casq1 |
T |
A |
1: 172,039,568 (GRCm39) |
T336S |
probably benign |
Het |
| Cib2 |
T |
G |
9: 54,467,271 (GRCm39) |
E11A |
probably damaging |
Het |
| Cttn |
C |
A |
7: 143,993,833 (GRCm39) |
E393D |
possibly damaging |
Het |
| Dchs1 |
G |
A |
7: 105,406,795 (GRCm39) |
R2237W |
probably damaging |
Het |
| Dclre1a |
C |
T |
19: 56,532,837 (GRCm39) |
A586T |
probably benign |
Het |
| Defb1 |
C |
A |
8: 22,266,716 (GRCm39) |
Q17K |
possibly damaging |
Het |
| Dgat2 |
T |
C |
7: 98,806,342 (GRCm39) |
Y285C |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,571,404 (GRCm39) |
F732Y |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,611,835 (GRCm39) |
D176A |
probably benign |
Het |
| Epha6 |
A |
G |
16: 60,025,915 (GRCm39) |
I509T |
probably damaging |
Het |
| Fblim1 |
C |
T |
4: 141,322,720 (GRCm39) |
R21H |
probably damaging |
Het |
| Fbxw20 |
T |
A |
9: 109,050,795 (GRCm39) |
H371L |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,589,567 (GRCm39) |
I218F |
probably damaging |
Het |
| Fstl1 |
A |
T |
16: 37,636,167 (GRCm39) |
I53F |
probably benign |
Het |
| Gdnf |
A |
G |
15: 7,864,011 (GRCm39) |
R141G |
probably benign |
Het |
| Gemin7 |
G |
A |
7: 19,299,242 (GRCm39) |
R118* |
probably null |
Het |
| Gm43218 |
T |
C |
6: 70,217,565 (GRCm39) |
T64A |
probably benign |
Het |
| Gnat3 |
G |
A |
5: 18,220,557 (GRCm39) |
M243I |
|
Het |
| Gramd1a |
A |
T |
7: 30,843,095 (GRCm39) |
I71N |
possibly damaging |
Het |
| H4c12 |
C |
G |
13: 21,934,654 (GRCm39) |
G8R |
unknown |
Het |
| Htt |
A |
T |
5: 35,033,309 (GRCm39) |
D1859V |
probably benign |
Het |
| Hyal1 |
T |
C |
9: 107,456,468 (GRCm39) |
F415S |
probably damaging |
Het |
| Ighv1-47 |
T |
C |
12: 114,954,858 (GRCm39) |
N74S |
probably benign |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,192 (GRCm39) |
R64G |
probably benign |
Het |
| Itgb1 |
T |
A |
8: 129,436,864 (GRCm39) |
V95D |
probably damaging |
Het |
| Jak1 |
A |
C |
4: 101,036,748 (GRCm39) |
N297K |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,127,205 (GRCm39) |
N646K |
possibly damaging |
Het |
| Krt42 |
A |
G |
11: 100,153,931 (GRCm39) |
S442P |
probably damaging |
Het |
| Mcm3ap |
G |
A |
10: 76,338,596 (GRCm39) |
S1408N |
possibly damaging |
Het |
| Mdga2 |
T |
A |
12: 66,763,469 (GRCm39) |
Q278L |
probably damaging |
Het |
| Mkln1 |
C |
T |
6: 31,451,289 (GRCm39) |
T410M |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,552,466 (GRCm39) |
E1792G |
probably damaging |
Het |
| Ndrg1 |
A |
G |
15: 66,820,288 (GRCm39) |
C49R |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,801,232 (GRCm39) |
H1201R |
probably benign |
Het |
| Nfasc |
T |
C |
1: 132,510,804 (GRCm39) |
Y1073C |
unknown |
Het |
| Nrbp2 |
A |
G |
15: 75,958,945 (GRCm39) |
Y253H |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,521,980 (GRCm39) |
I255F |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,137,225 (GRCm39) |
V225D |
probably damaging |
Het |
| Or4k45 |
T |
C |
2: 111,395,556 (GRCm39) |
T78A |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,416,466 (GRCm39) |
C1661S |
probably damaging |
Het |
| Qsox2 |
T |
G |
2: 26,110,924 (GRCm39) |
D147A |
probably damaging |
Het |
| Siglec15 |
T |
A |
18: 78,100,590 (GRCm39) |
|
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,454,900 (GRCm39) |
T1011S |
unknown |
Het |
| Slc9a2 |
A |
G |
1: 40,783,001 (GRCm39) |
T422A |
probably damaging |
Het |
| Tert |
C |
T |
13: 73,776,380 (GRCm39) |
T377I |
possibly damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,129 (GRCm39) |
S186R |
probably damaging |
Het |
| Tgfb1 |
A |
G |
7: 25,396,343 (GRCm39) |
D212G |
probably benign |
Het |
| Tnc |
T |
G |
4: 63,935,973 (GRCm39) |
D321A |
probably damaging |
Het |
| Topbp1 |
G |
A |
9: 103,187,088 (GRCm39) |
E98K |
possibly damaging |
Het |
| Ugp2 |
C |
A |
11: 21,320,203 (GRCm39) |
M1I |
probably null |
Het |
| Vipr2 |
G |
A |
12: 116,058,418 (GRCm39) |
D112N |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,718,265 (GRCm39) |
E485G |
probably damaging |
Het |
| Vps37a |
T |
A |
8: 40,990,087 (GRCm39) |
I198N |
possibly damaging |
Het |
| Zbtb9 |
T |
C |
17: 27,193,735 (GRCm39) |
V380A |
probably damaging |
Het |
| Zfhx4 |
G |
C |
3: 5,307,802 (GRCm39) |
V343L |
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 |
|
|
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 |
|
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'- AGGACATCCTGCTTCCTCTG -3'
(R):5'- ATTACCTTAAATGCCATACTGCACC -3'
Sequencing Primer
(F):5'- AGGACATCCTGCTTCCTCTGTTTAG -3'
(R):5'- TGCACCAAGAAATCAATCCCTTCAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation