Incidental Mutation 'IGL00340:Bcas3'
ID 4526
Institutional Source Australian Phenomics Network (link to record)
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) question?
Stock # IGL00340
Quality Score
Status
Chromosome 11
Chromosomal Location 85243993-85716884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85256417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 60 (I60L)
Ref Sequence ENSEMBL: ENSMUSP00000103697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000108056] [ENSMUST00000108061] [ENSMUST00000108062] [ENSMUST00000138423]
AlphaFold Q8CCN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000074875
AA Change: I60L

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: I60L

DomainStartEndE-ValueType
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: I60L

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: I60L

DomainStartEndE-ValueType
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: ENSMUST00000108056
AA Change: I60L

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: I60L

DomainStartEndE-ValueType
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: I60L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: I60L

DomainStartEndE-ValueType
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: I60L

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: I60L

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000138423
AA Change: I73L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117559
Gene: ENSMUSG00000059439
AA Change: I73L

DomainStartEndE-ValueType
Blast:WD40 69 117 4e-19 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 G A 5: 89,849,525 (GRCm39) H632Y probably damaging Het
Adgre5 T A 8: 84,455,030 (GRCm39) M221L probably benign Het
Apba2 A T 7: 64,386,689 (GRCm39) I439F possibly damaging Het
Arid1b C A 17: 5,371,559 (GRCm39) N632K probably damaging Het
Brd9 T C 13: 74,086,666 (GRCm39) S56P probably damaging Het
Ccdc57 T A 11: 120,751,295 (GRCm39) D925V possibly damaging Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Cdhr3 T C 12: 33,102,208 (GRCm39) T410A probably benign Het
Cimap3 A G 3: 105,921,824 (GRCm39) V33A probably benign Het
Ddx60 G T 8: 62,411,680 (GRCm39) D511Y probably damaging Het
Drc7 C A 8: 95,782,629 (GRCm39) probably benign Het
Dysf A G 6: 84,118,933 (GRCm39) E1290G probably benign Het
Fam168b T C 1: 34,875,883 (GRCm39) M1V probably null Het
Farsa A G 8: 85,590,886 (GRCm39) K208R probably damaging Het
Fnip2 A G 3: 79,425,368 (GRCm39) probably benign Het
Gm17535 A T 9: 3,035,111 (GRCm39) H170L probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gm5852 T C 3: 93,634,501 (GRCm39) noncoding transcript Het
Gnb2 T C 5: 137,528,968 (GRCm39) probably benign Het
Gpr158 A G 2: 21,373,494 (GRCm39) N143S probably damaging Het
Hcn1 C A 13: 117,739,513 (GRCm39) Q92K unknown Het
Helb T C 10: 119,934,150 (GRCm39) I678V possibly damaging Het
Hnrnpl C A 7: 28,512,798 (GRCm39) A118D probably damaging Het
Klhl14 G A 18: 21,784,921 (GRCm39) P169S probably benign Het
Kndc1 T C 7: 139,481,904 (GRCm39) probably benign Het
Lmod2 A G 6: 24,598,051 (GRCm39) E57G probably damaging Het
Lrch4 T C 5: 137,636,009 (GRCm39) I300T possibly damaging Het
Lrp6 A G 6: 134,433,053 (GRCm39) V1426A probably benign Het
Lrrc39 A G 3: 116,364,630 (GRCm39) probably benign Het
Mamstr G A 7: 45,293,709 (GRCm39) V262I probably benign Het
Mob1b A T 5: 88,904,014 (GRCm39) T217S probably benign Het
Mocs3 G A 2: 168,073,411 (GRCm39) R286H possibly damaging Het
Mpo A T 11: 87,693,443 (GRCm39) Q27L probably benign Het
Ncdn A T 4: 126,640,981 (GRCm39) D506E probably benign Het
Noxa1 A G 2: 24,984,914 (GRCm39) I8T probably benign Het
Oma1 G T 4: 103,176,565 (GRCm39) A110S probably benign Het
Or10a48 C T 7: 108,424,280 (GRCm39) V309I probably benign Het
Or13a18 T A 7: 140,190,666 (GRCm39) S196T probably damaging Het
Or8b4 A G 9: 37,830,346 (GRCm39) Y131C probably damaging Het
Pde4a A C 9: 21,122,357 (GRCm39) K694T probably benign Het
Phc1 A G 6: 122,299,958 (GRCm39) probably benign Het
Pias1 A G 9: 62,830,578 (GRCm39) V187A probably damaging Het
Pigf C A 17: 87,327,876 (GRCm39) L130F probably null Het
Pkd1 G T 17: 24,799,069 (GRCm39) V2763L probably damaging Het
Potefam1 G T 2: 111,051,107 (GRCm39) L230I probably damaging Het
Ppp1r8 T C 4: 132,561,992 (GRCm39) Y76C probably damaging Het
Ppp6r3 C A 19: 3,568,324 (GRCm39) G158V probably damaging Het
Ptpn13 A G 5: 103,698,924 (GRCm39) I1136V probably damaging Het
Ptprq T C 10: 107,412,790 (GRCm39) I1770V probably damaging Het
Rhpn2 A T 7: 35,070,185 (GRCm39) I148F probably damaging Het
Stard3 T C 11: 98,268,285 (GRCm39) Y239H probably damaging Het
Stau1 T C 2: 166,792,729 (GRCm39) Y412C probably benign Het
Sucnr1 A G 3: 59,994,053 (GRCm39) I194V probably benign Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Tmem126a T C 7: 90,101,963 (GRCm39) T79A probably benign Het
Trav9-2 A T 14: 53,828,840 (GRCm39) Y70F probably benign Het
Tspear A G 10: 77,709,070 (GRCm39) E432G probably benign Het
Ube2o T C 11: 116,435,580 (GRCm39) R403G probably benign Het
Unc80 C A 1: 66,645,618 (GRCm39) S1431R possibly damaging Het
Usp24 G A 4: 106,258,336 (GRCm39) C1578Y probably damaging Het
Vsig10 A T 5: 117,489,652 (GRCm39) M473L probably benign Het
Xpot T A 10: 121,441,549 (GRCm39) M559L probably benign Het
Other mutations in Bcas3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20