Incidental Mutation 'R2215:Bcas3'
ID 241105
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 040217-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # R2215 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 85243993-85716884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85692769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 862 (S862P)
Ref Sequence ENSEMBL: ENSMUSP00000090496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000092822] [ENSMUST00000108061] [ENSMUST00000108062]
AlphaFold Q8CCN5
Predicted Effect probably benign
Transcript: ENSMUST00000074875
AA Change: S877P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: S877P

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 damaging
Transcript: ENSMUST00000092821
AA Change: S862P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: S862P

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
AA Change: S385P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: S385P

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: ENSMUST00000108061
AA Change: S877P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: S877P

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: S877P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: S877P

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 noncoding transcript
Transcript: ENSMUST00000128213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140673
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136117
Predicted Effect unknown
Transcript: ENSMUST00000154396
AA Change: S641P
SMART Domains Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: S641P

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
Predicted Effect unknown
Transcript: ENSMUST00000142596
AA Change: S403P
SMART Domains Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439
AA Change: S403P

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: ENSMUST00000149662
AA Change: S41P
SMART Domains Protein: ENSMUSP00000120891
Gene: ENSMUSG00000059439
AA Change: S41P

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130343
Meta Mutation Damage Score 0.0787 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (68/68)
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,254,619 (GRCm39) S1899T probably damaging Het
Accs G T 2: 93,672,243 (GRCm39) N208K probably benign Het
Actn4 C A 7: 28,618,178 (GRCm39) V22L possibly damaging Het
Adam21 A G 12: 81,607,064 (GRCm39) S233P probably damaging Het
Adrm1b G A 3: 92,335,730 (GRCm39) A324V probably damaging Het
Agmat C T 4: 141,476,899 (GRCm39) R102C probably benign Het
Akap8l T C 17: 32,540,569 (GRCm39) E608G possibly damaging Het
Arap2 T C 5: 62,834,519 (GRCm39) I788V probably damaging Het
Arhgef12 G T 9: 42,917,167 (GRCm39) H391N probably damaging Het
Arhgef28 G T 13: 98,187,529 (GRCm39) H255Q possibly damaging Het
Baz1a G A 12: 55,022,154 (GRCm39) R43* probably null Het
Blm A T 7: 80,149,595 (GRCm39) H671Q possibly damaging Het
Bmp8a C T 4: 123,218,911 (GRCm39) V166I probably benign Het
Cep120 G T 18: 53,860,707 (GRCm39) P241Q probably damaging Het
Col14a1 G A 15: 55,244,238 (GRCm39) G437E unknown Het
Cyp2a5 T C 7: 26,539,900 (GRCm39) L3S probably damaging Het
D16Ertd472e T C 16: 78,342,155 (GRCm39) T242A probably benign Het
Dach1 A G 14: 98,405,917 (GRCm39) probably null Het
Ddx20 A T 3: 105,587,656 (GRCm39) probably benign Het
Eif4enif1 A G 11: 3,177,476 (GRCm39) S185G probably damaging Het
Ep400 A T 5: 110,841,421 (GRCm39) probably benign Het
Fam117b T A 1: 60,008,219 (GRCm39) I351K probably damaging Het
Fbxo31 T C 8: 122,293,050 (GRCm39) I112V probably benign Het
Galntl5 A T 5: 25,403,476 (GRCm39) N149I probably damaging Het
Gja8 A T 3: 96,827,218 (GRCm39) F148Y probably damaging Het
Gpatch1 A T 7: 34,993,252 (GRCm39) L531Q possibly damaging Het
Gprin1 G A 13: 54,888,046 (GRCm39) T76M probably damaging Het
Htr4 T A 18: 62,546,787 (GRCm39) C113* probably null Het
Igf1r T A 7: 67,814,982 (GRCm39) D294E probably benign Het
Kdm6b G A 11: 69,295,870 (GRCm39) P799L unknown Het
Lat A T 7: 125,967,137 (GRCm39) V139E probably damaging Het
Lrrc34 G A 3: 30,697,678 (GRCm39) R51C probably benign Het
Map3k1 A G 13: 111,892,322 (GRCm39) S978P probably benign Het
Masp1 T A 16: 23,271,271 (GRCm39) D659V possibly damaging Het
Mcam A T 9: 44,051,250 (GRCm39) R415* probably null Het
Mtmr10 A G 7: 63,987,403 (GRCm39) T648A probably benign Het
Myh2 T C 11: 67,082,563 (GRCm39) W1378R probably benign Het
Nipsnap2 A G 5: 129,816,649 (GRCm39) E64G probably damaging Het
Or4a68 T C 2: 89,270,381 (GRCm39) M81V probably benign Het
Or52n4b T C 7: 108,144,095 (GRCm39) L119P probably damaging Het
Or6c3 A T 10: 129,309,289 (GRCm39) I243F probably damaging Het
Or9s27 G A 1: 92,516,708 (GRCm39) V219I probably benign Het
Pcdhb8 T G 18: 37,490,127 (GRCm39) S602A probably damaging Het
Peg10 A T 6: 4,756,918 (GRCm39) probably benign Het
Pld1 A T 3: 28,132,542 (GRCm39) I577F probably benign Het
Plekhm1 A T 11: 103,267,811 (GRCm39) I720N probably damaging Het
Ppp2r1a A G 17: 21,182,005 (GRCm39) probably null Het
Retreg3 G T 11: 101,010,459 (GRCm39) Y49* probably null Het
Rrp36 T C 17: 46,983,746 (GRCm39) E22G possibly damaging Het
Sec14l2 C A 11: 4,059,169 (GRCm39) A167S probably damaging Het
Sema5b A G 16: 35,480,585 (GRCm39) T751A probably damaging Het
Smarcc1 C A 9: 110,066,907 (GRCm39) probably benign Het
Smox T C 2: 131,362,190 (GRCm39) probably null Het
Spats2l A T 1: 57,985,575 (GRCm39) T543S possibly damaging Het
Sppl2a G T 2: 126,769,754 (GRCm39) T34K probably benign Het
Svep1 T C 4: 58,138,602 (GRCm39) probably benign Het
Tet2 T A 3: 133,192,362 (GRCm39) I691F probably benign Het
Tnxb T C 17: 34,923,114 (GRCm39) Y2566H possibly damaging Het
Ttn T C 2: 76,570,853 (GRCm39) E26680G probably damaging Het
Txlna T C 4: 129,533,111 (GRCm39) E139G possibly damaging Het
Ubap2 T C 4: 41,196,483 (GRCm39) probably null Het
Ubr3 A T 2: 69,809,661 (GRCm39) probably null Het
Usp37 A C 1: 74,483,685 (GRCm39) F844V probably damaging Het
Usp6nl A G 2: 6,429,150 (GRCm39) D204G probably damaging Het
Vmn1r230 T C 17: 21,067,684 (GRCm39) I291T probably benign Het
Zfp229 T G 17: 21,965,258 (GRCm39) V496G 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
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
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'- GAAGGTACAGACTCAACATCGTC -3'
(R):5'- ATGCTGCTCTAGGTAGGAGAG -3'

Sequencing Primer
(F):5'- AGACTCAACATCGTCTGTCCTG -3'
(R):5'- CTCTAGGTAGGAGAGGGGGTTC -3'
Posted On 2014-10-15