Incidental Mutation 'FR4340:Bcas3'
ID 511158
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) question?
Stock # FR4340 ()
Quality Score 221.999
Status Not validated
Chromosome 11
Chromosomal Location 85243993-85716884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 85400323 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Valine to Isoleucine at position 431 (V431I)
Ref Sequence ENSEMBL: ENSMUSP00000103697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000092822] [ENSMUST00000108056] [ENSMUST00000108061] [ENSMUST00000108062]
AlphaFold Q8CCN5
Predicted Effect probably benign
Transcript: ENSMUST00000074875
AA Change: V431I

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: V431I

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 probably benign
Transcript: ENSMUST00000092821
AA Change: V431I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: V431I

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 probably benign
Transcript: ENSMUST00000092822
SMART Domains Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439

DomainStartEndE-ValueType
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: ENSMUST00000108056
AA Change: V431I

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: V431I

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 benign
Transcript: ENSMUST00000108061
AA Change: V431I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: V431I

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 benign
Transcript: ENSMUST00000108062
AA Change: V431I

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: V431I

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: ENSMUST00000142596
SMART Domains Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439

DomainStartEndE-ValueType
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: V210I
SMART Domains Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: V210I

DomainStartEndE-ValueType
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: 99.7%
  • 3x: 99.4%
  • 10x: 97.8%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 115 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik AACC A 7: 40,642,479 (GRCm39) probably benign Het
4930578G10Rik G T 4: 42,761,098 (GRCm39) probably benign Het
7530416G11Rik T A 15: 85,378,508 (GRCm39) E45V unknown Homo
A530064D06Rik GTAGGAAGCTTAG GTAG 17: 48,470,549 (GRCm39) probably benign Homo
Arpc1b CC CCTGGTC 5: 145,063,602 (GRCm39) probably null Het
Arrb2 C T 11: 70,329,497 (GRCm39) T269M probably damaging Homo
Blm ACCT ACCTGCCT 7: 80,113,515 (GRCm39) probably benign Het
Blm TCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,658 (GRCm39) probably benign Het
Blm TCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCGCCTCCTCCTCCTCCTCCTCCTCC 7: 80,162,655 (GRCm39) probably benign Het
Bltp1 TATTATTAT TATTATTATTATTATCATTATTAT 3: 37,104,901 (GRCm39) probably benign Het
Cacna1a ACC ACCGCC 8: 85,365,352 (GRCm39) probably benign Het
Cacna1f AGG AGGCGG X: 7,486,306 (GRCm39) probably benign Het
Calhm1 CTCTGTGGCTGTGGCTGTGGCTGTG CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG 19: 47,129,690 (GRCm39) probably benign Het
Casz1 ACCACAGCCACAGCCACAGCCAC ACCACAGCCACAGCCAC 4: 149,036,759 (GRCm39) probably benign Homo
Ccdc121 GAGAAG GAG 5: 31,644,717 (GRCm39) probably benign Het
Cd164 G T 10: 41,397,922 (GRCm39) A59S probably benign Het
Cd22 C T 7: 30,577,507 (GRCm39) R2H possibly damaging Homo
Cd80 GAA GAAAAA 16: 38,306,678 (GRCm39) probably benign Homo
Cimip2b CAGAG CAG 4: 43,427,384 (GRCm39) probably null Homo
Col2a1 C A 15: 97,886,862 (GRCm39) probably null Het
Col6a5 A T 9: 105,811,373 (GRCm39) N715K unknown Homo
Crygc A T 1: 65,110,822 (GRCm39) F155Y probably benign Het
Cul9 TCC TCCCCC 17: 46,811,779 (GRCm39) probably benign Het
Cyp2d11 T TGGGA 15: 82,274,223 (GRCm39) probably null Homo
Dbr1 AGG AGGAGGCGG 9: 99,465,754 (GRCm39) probably benign Het
Dennd10 CT CTTTT 19: 60,803,059 (GRCm39) probably benign Homo
Dennd2b CACCACACTGGGGCAGCCCACACTGGGGCAG CCCCACACTGGGGCAG 7: 109,156,128 (GRCm39) probably benign Het
Dnah12 G T 14: 26,571,342 (GRCm39) G2817V probably damaging Homo
Dnah8 ACACTGCC AC 17: 30,854,437 (GRCm39) probably benign Het
Dthd1 C CTTA 5: 63,000,369 (GRCm39) probably benign Homo
Frem3 CT CTTTT 8: 81,341,870 (GRCm39) probably benign Homo
Frmpd2 G T 14: 33,232,978 (GRCm39) L399F probably damaging Homo
G530012D18Rik CACACAGAGAGAGAGAGAGAGAGAGA CA 1: 85,504,873 (GRCm39) probably benign Het
Gbp2b A G 3: 142,309,413 (GRCm39) I175V probably benign Het
Gm14393 T C 2: 174,903,427 (GRCm39) E160G possibly damaging Het
Gm16519 A AGAAC 17: 71,236,333 (GRCm39) probably null Homo
Gm4340 GCAG GCAACAG 10: 104,031,959 (GRCm39) probably benign Het
Gm4340 CAGAAG CAGAAGAAG 10: 104,031,960 (GRCm39) probably benign Het
Gm4340 CAG CAGTAG 10: 104,031,936 (GRCm39) probably null Het
Gpatch11 AGGAAG AGGAAGGGGAAG 17: 79,149,603 (GRCm39) probably benign Het
H2-Q4 G A 17: 35,599,381 (GRCm39) D155N probably damaging Het
Ifi208 ATGGTG ATG 1: 173,505,264 (GRCm39) probably benign Homo
Ighv5-9 C T 12: 113,625,497 (GRCm39) S82N probably benign Homo
Ipo9 TCC TCCCCC 1: 135,314,007 (GRCm39) probably benign Het
Ipo9 CTC CTCTTC 1: 135,314,009 (GRCm39) probably benign Het
Isg20l2 AAG AAGTAG 3: 87,839,019 (GRCm39) probably null Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,800 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,788 (GRCm39) probably benign Het
Kmt2b TCCTCC TCCTCCCCCTCC 7: 30,285,794 (GRCm39) probably benign Het
Krt10 CCTCCT CCTCCTTCTCCT 11: 99,280,100 (GRCm39) probably benign Het
Krt10 CAC CACGAC 11: 99,277,028 (GRCm39) probably benign Het
Krt10 ACCG ACCGCCG 11: 99,277,029 (GRCm39) probably benign Homo
Las1l TCCTC TCCTCTACCTC X: 94,984,228 (GRCm39) probably benign Het
Lce1a1 C T 3: 92,554,151 (GRCm39) G108S unknown Het
Lkaaear1 CCAGCTCCAG CCAGCTCCAGCTGCAGCTCCAG 2: 181,339,387 (GRCm39) probably benign Het
Lrit3 CTG CTGTTG 3: 129,582,457 (GRCm39) probably benign Het
Mamld1 CAG CAGAAG X: 70,162,452 (GRCm39) probably benign Het
Mapk7 TGCTGGCGCTGGTGCTGGCGCTGG TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG 11: 61,381,032 (GRCm39) probably benign Het
Mast4 GCA GCAGTGTCA 13: 102,872,825 (GRCm39) probably benign Homo
Mast4 TTTT TTTTATTT 13: 102,871,365 (GRCm39) probably null Het
Med12l AGC AGCCGC 3: 59,183,406 (GRCm39) probably benign Het
Mfsd5 G A 15: 102,189,596 (GRCm39) V323I probably benign Het
Nacad GTC GTCAGGATC 11: 6,549,761 (GRCm39) probably benign Het
Naip1 A C 13: 100,559,584 (GRCm39) M1140R probably benign Het
Nbea TTTA T 3: 55,916,633 (GRCm39) probably benign Homo
Nefh CTCACCTGGGGACTTGGCCTC CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,040 (GRCm39) probably benign Homo
Nefh ACTTGGCCTCACCTGGGG ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG 11: 4,891,033 (GRCm39) probably benign Het
Nefh GCCTCACCTGGGGACTTGGCCTC GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC 11: 4,891,038 (GRCm39) probably benign Homo
Neu1 TCTTCTA T 17: 35,151,534 (GRCm39) probably benign Het
Nutf2 G T 8: 106,603,202 (GRCm39) D78Y probably damaging Het
Or51q1 TCC TCCC 7: 103,629,110 (GRCm39) probably null Het
Or5e1 AT ATGATATT 7: 108,354,161 (GRCm39) probably benign Homo
Or5p70 G A 7: 107,995,105 (GRCm39) M259I probably benign Het
Or5p70 A G 7: 107,995,100 (GRCm39) T258A probably benign Het
Pdik1l ACCAC ACCACCCCCAC 4: 134,006,823 (GRCm39) probably benign Het
Phaf1 G A 8: 105,967,730 (GRCm39) G207E probably benign Homo
Pik3c2g AG AGAGGG 6: 139,612,654 (GRCm39) probably null Homo
Plekhs1 TCCAGAC TCCAGACCTCCCCCCAGAC 19: 56,468,290 (GRCm39) probably benign Homo
Prag1 C CAGT 8: 36,571,040 (GRCm39) probably benign Homo
Pramel16 G A 4: 143,676,312 (GRCm39) T264M probably damaging Het
Prkn G A 17: 12,073,650 (GRCm39) V323M probably damaging Homo
Raet1d A G 10: 22,247,458 (GRCm39) Q178R probably benign Het
Serac1 T A 17: 6,121,083 (GRCm39) K70N probably damaging Homo
Serpina3i CGG CGGTGG 12: 104,231,423 (GRCm39) probably benign Het
Sfswap ACTCAGCCC ACTCAGCCCCCTCAGCCC 5: 129,646,815 (GRCm39) probably benign Het
Six3 CGG CGGGGG 17: 85,928,784 (GRCm39) probably benign Het
Sp140l1 A C 1: 85,087,072 (GRCm39) N6K probably damaging Het
Speer4a1 C A 5: 26,241,746 (GRCm39) E127* probably null Het
Sry GCTGCTGCTGCTG GCTGCTGCTGCTGCTG Y: 2,662,824 (GRCm39) probably benign Het
Tbr1 A C 2: 61,636,691 (GRCm39) probably benign Het
Tdpoz2 T TCC 3: 93,558,922 (GRCm39) probably null Homo
Tdpoz4 GAA GA 3: 93,704,187 (GRCm39) probably null Het
Tgoln1 AAG AAGCCTCAG 6: 72,593,334 (GRCm39) probably benign Homo
Tmbim7 C T 5: 3,720,064 (GRCm39) R100C possibly damaging Het
Tob1 CA CAGAA 11: 94,105,303 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,280 (GRCm39) probably benign Het
Tob1 AGC AGCCGC 11: 94,105,286 (GRCm39) probably benign Het
Tomm5 GCATCTTCC GCATCTTCCACATCTTCC 4: 45,107,973 (GRCm39) probably benign Het
Triobp TCGG TCGGCGG 15: 78,877,590 (GRCm39) probably benign Homo
Tsbp1 GC GCAAC 17: 34,679,051 (GRCm39) probably benign Het
Tsbp1 CAG CAGTAG 17: 34,679,034 (GRCm39) probably null Het
Tsbp1 GCA GCATCA 17: 34,679,042 (GRCm39) probably benign Het
Tsen2 AGG AGGGGG 6: 115,537,027 (GRCm39) probably benign Homo
Tsen2 AGG AGGGGG 6: 115,537,030 (GRCm39) probably benign Homo
Ubtf TCC TCCCCC 11: 102,197,776 (GRCm39) probably benign Het
Vmn2r87 C T 10: 130,314,583 (GRCm39) M334I probably benign Homo
Zc3h13 CGGGATGTGCG CGGGATGTGCGGGATGTGCG 14: 75,561,032 (GRCm39) probably benign Homo
Zfp28 G A 7: 6,397,862 (GRCm39) G766R probably damaging Het
Zfp384 AAGCCCAGGCCCAGGCCCAGGCCCA AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA 6: 125,013,426 (GRCm39) probably benign Het
Zfp428 G A 7: 24,214,506 (GRCm39) D41N probably damaging Homo
Zfp598 CCACAGGC CC 17: 24,898,346 (GRCm39) probably benign Het
Zfp598 CCACCA CCACCAACACCA 17: 24,899,757 (GRCm39) probably benign Het
Zfp831 TCC TCCCCC 2: 174,487,273 (GRCm39) probably benign Het
Zfp933 GCTT GCTTTTCTT 4: 147,910,186 (GRCm39) probably null Homo
Zfp936 G A 7: 42,838,913 (GRCm39) G127R possibly damaging Het
Other mutations in Bcas3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ATCTGCTAAAGAGGCAACCATTTC -3'
(R):5'- ATCTACTGGAAAGCAGCATGAG -3'

Sequencing Primer
(F):5'- AGAGGCAACCATTTCTATTTGC -3'
(R):5'- AAGTGTTTACCATGCAGCGG -3'
Posted On 2018-04-05