Incidental Mutation 'R6198:Bcas3'
ID 503053
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 044338-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # R6198 (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 T at 85400261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 410 (D410V)
Ref Sequence ENSEMBL: ENSMUSP00000103697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000092822] [ENSMUST00000108056] [ENSMUST00000108061] [ENSMUST00000108062]
AlphaFold Q8CCN5
Predicted Effect probably damaging
Transcript: ENSMUST00000074875
AA Change: D410V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: D410V

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: D410V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: D410V

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 damaging
Transcript: ENSMUST00000108056
AA Change: D410V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103691
Gene: ENSMUSG00000059439
AA Change: D410V

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: D410V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: D410V

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: D410V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: D410V

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 unknown
Transcript: ENSMUST00000154396
AA Change: D189V
SMART Domains Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: D189V

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,499 (GRCm39) probably null Het
2610318N02Rik A G 16: 16,936,233 (GRCm39) S164P probably damaging Het
Acsbg3 A G 17: 57,189,679 (GRCm39) S265G probably damaging Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adam19 A C 11: 46,012,329 (GRCm39) N275T probably damaging Het
Adgrg7 T A 16: 56,597,556 (GRCm39) T84S possibly damaging Het
Asl C T 5: 130,047,757 (GRCm39) V70I probably benign Het
Atp2c1 A G 9: 105,398,271 (GRCm39) S26P probably benign Het
Cc2d1b C T 4: 108,490,422 (GRCm39) R825W probably damaging Het
Ccdc15 A C 9: 37,225,581 (GRCm39) probably null Het
Cfh A G 1: 140,033,178 (GRCm39) S789P probably damaging Het
Cltc T C 11: 86,611,188 (GRCm39) N561S probably benign Het
Cnst A G 1: 179,420,430 (GRCm39) Q187R probably damaging Het
Csmd3 T C 15: 48,177,273 (GRCm39) T422A probably benign Het
Cyp2c55 A T 19: 38,995,565 (GRCm39) R26* probably null Het
Dgkb A T 12: 38,223,822 (GRCm39) M414L probably benign Het
Dgkd A G 1: 87,851,930 (GRCm39) D444G probably damaging Het
Dipk1b A G 2: 26,525,710 (GRCm39) K215E probably damaging Het
Dnmt3c T C 2: 153,561,929 (GRCm39) V544A noncoding transcript Het
Dus3l A T 17: 57,074,858 (GRCm39) T327S possibly damaging Het
Elf2 A T 3: 51,184,670 (GRCm39) L5Q probably damaging Het
Fxyd6 A G 9: 45,301,968 (GRCm39) Y30C probably damaging Het
Gcc2 A T 10: 58,128,412 (GRCm39) T1375S probably benign Het
Git2 A T 5: 114,883,556 (GRCm39) Y393* probably null Het
Gm14403 AAACCCTA AA 2: 177,201,448 (GRCm39) probably benign Het
Golgb1 T C 16: 36,713,757 (GRCm39) L246P probably damaging Het
Grp G T 18: 66,013,057 (GRCm39) Q74H possibly damaging Het
Ifi203 A T 1: 173,751,648 (GRCm39) M391K probably damaging Het
Itih2 A G 2: 10,103,352 (GRCm39) Y712H probably benign Het
Kdm5a T A 6: 120,415,958 (GRCm39) V1626E probably benign Het
Klhl40 A G 9: 121,607,833 (GRCm39) Y331C probably damaging Het
Kprp T A 3: 92,731,994 (GRCm39) Y352F probably damaging Het
Lama2 G T 10: 27,064,018 (GRCm39) H1286Q probably damaging Het
Lgi4 T A 7: 30,768,547 (GRCm39) probably null Het
Lrrc47 A T 4: 154,100,129 (GRCm39) N235I probably damaging Het
Lrrc74b T A 16: 17,366,650 (GRCm39) I308F probably damaging Het
Map7d1 T A 4: 126,135,636 (GRCm39) K135M probably damaging Het
Marchf5 A G 19: 37,188,140 (GRCm39) R36G probably damaging Het
Mtx3 C A 13: 92,989,359 (GRCm39) P299Q probably benign Het
Muc21 T A 17: 35,931,808 (GRCm39) probably benign Het
Ncapd2 C A 6: 125,156,286 (GRCm39) E500* probably null Het
Nckap5l T C 15: 99,323,869 (GRCm39) K878R probably damaging Het
Nphs1 T C 7: 30,167,340 (GRCm39) I756T probably damaging Het
Olfm4 T G 14: 80,237,813 (GRCm39) S17A probably benign Het
Or1j15 A G 2: 36,458,963 (GRCm39) M118V probably damaging Het
Or4b1 A T 2: 89,979,782 (GRCm39) D189E probably damaging Het
Pak1ip1 G T 13: 41,154,886 (GRCm39) Q27H probably benign Het
Piezo2 A T 18: 63,290,281 (GRCm39) C159* probably null Het
Pkn2 G T 3: 142,516,165 (GRCm39) T538K probably benign Het
Ppp3cc A T 14: 70,485,060 (GRCm39) M198K probably benign Het
Rrm1 T G 7: 102,095,936 (GRCm39) probably null Het
Setd3 T C 12: 108,131,427 (GRCm39) K7E possibly damaging Het
Shc1 A G 3: 89,329,414 (GRCm39) K86R probably benign Het
Slc16a7 T C 10: 125,064,084 (GRCm39) T418A probably benign Het
Spocd1 C T 4: 129,849,208 (GRCm39) P676S probably damaging Het
Spp1 A G 5: 104,587,374 (GRCm39) probably null Het
Syne1 A G 10: 5,252,269 (GRCm39) Y2462H probably damaging Het
Tiam2 T C 17: 3,464,396 (GRCm39) S42P probably benign Het
Tmem63b C T 17: 45,972,442 (GRCm39) V722I probably benign Het
Ubqln1 A G 13: 58,344,404 (GRCm39) S130P probably benign Het
Usp34 G T 11: 23,434,127 (GRCm39) L3215F probably damaging Het
Uvssa A G 5: 33,566,854 (GRCm39) Y517C probably damaging Het
Vps13d A T 4: 144,875,560 (GRCm39) F1649Y probably benign Het
Zfp236 A G 18: 82,675,278 (GRCm39) S405P probably damaging Het
Zfp9 T C 6: 118,454,282 (GRCm39) M1V probably null Het
Zfp946 A T 17: 22,673,896 (GRCm39) S217C probably damaging Het
Zfp970 T A 2: 177,167,253 (GRCm39) C276S probably damaging Het
Zswim5 T A 4: 116,735,204 (GRCm39) F183Y probably benign 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
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
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'- GAATAGAACCCTTCACTCCAGG -3'
(R):5'- CGCCTTGCTTAGATGTCAGC -3'

Sequencing Primer
(F):5'- AGGTTTTATCTGATCCCCACATGGAG -3'
(R):5'- GCTTAGATGTCAGCTCTTGTTCAATC -3'
Posted On 2018-02-27