Incidental Mutation 'IGL02261:Bcas3'
ID 286757
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 # IGL02261
Quality Score
Status
Chromosome 11
Chromosomal Location 85243993-85716884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85422756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 542 (T542S)
Ref Sequence ENSEMBL: ENSMUSP00000074416 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074875] [ENSMUST00000092821] [ENSMUST00000092822] [ENSMUST00000108061] [ENSMUST00000108062]
AlphaFold Q8CCN5
Predicted Effect probably damaging
Transcript: ENSMUST00000074875
AA Change: T542S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074416
Gene: ENSMUSG00000059439
AA Change: T542S

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: T542S

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090496
Gene: ENSMUSG00000059439
AA Change: T542S

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: T65S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000090497
Gene: ENSMUSG00000059439
AA Change: T65S

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: T542S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103696
Gene: ENSMUSG00000059439
AA Change: T542S

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: T542S

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103697
Gene: ENSMUSG00000059439
AA Change: T542S

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: ENSMUST00000142596
AA Change: T68S
SMART Domains Protein: ENSMUSP00000122571
Gene: ENSMUSG00000059439
AA Change: T68S

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: T321S
SMART Domains Protein: ENSMUSP00000122154
Gene: ENSMUSG00000059439
AA Change: T321S

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,604,807 (GRCm39) V27M probably damaging Het
Ank1 A G 8: 23,578,015 (GRCm39) N222D probably damaging Het
Btbd1 A T 7: 81,455,507 (GRCm39) I288N probably damaging Het
Ctps1 C T 4: 120,399,776 (GRCm39) V500I possibly damaging Het
Cul5 A C 9: 53,546,337 (GRCm39) V345G probably damaging Het
Dchs1 A G 7: 105,421,776 (GRCm39) Y215H probably damaging Het
Dmxl1 T A 18: 49,973,566 (GRCm39) M67K possibly damaging Het
Egln2 C T 7: 26,859,291 (GRCm39) E353K possibly damaging Het
Fbxw5 G T 2: 25,393,746 (GRCm39) A325S probably benign Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Gaa A G 11: 119,172,091 (GRCm39) *207W probably null Het
Herc2 A G 7: 55,856,492 (GRCm39) T3947A probably damaging Het
Ifit2 T A 19: 34,551,624 (GRCm39) I388N probably damaging Het
Ikzf4 T C 10: 128,472,591 (GRCm39) T209A possibly damaging Het
Il17re A T 6: 113,445,472 (GRCm39) probably benign Het
Insrr T A 3: 87,708,029 (GRCm39) L157Q probably damaging Het
Kcnq2 T G 2: 180,723,483 (GRCm39) Y631S probably damaging Het
Lrrfip1 A G 1: 91,039,890 (GRCm39) I198V probably benign Het
Mir7684 A T 15: 82,273,345 (GRCm39) probably benign Het
Mphosph9 C T 5: 124,398,150 (GRCm39) E1049K probably damaging Het
Mroh1 G A 15: 76,313,360 (GRCm39) R611Q probably benign Het
Mynn A T 3: 30,661,280 (GRCm39) I121F possibly damaging Het
Ndrg2 G A 14: 52,148,566 (GRCm39) R32C probably damaging Het
Or2ab1 T C 11: 58,488,630 (GRCm39) I138T probably benign Het
Or4p7 A G 2: 88,221,725 (GRCm39) I45V probably benign Het
Ppp1r9b A G 11: 94,892,936 (GRCm39) E260G probably damaging Het
Psd4 A G 2: 24,291,756 (GRCm39) S652G probably damaging Het
Psg25 C T 7: 18,255,268 (GRCm39) R416H probably benign Het
Pygm T A 19: 6,438,301 (GRCm39) N171K probably damaging Het
Rbm46 A T 3: 82,771,723 (GRCm39) D297E possibly damaging Het
Selenov T A 7: 27,990,004 (GRCm39) T167S probably benign Het
Serpina10 T C 12: 103,583,208 (GRCm39) Y358C probably damaging Het
Slc27a3 T C 3: 90,295,002 (GRCm39) R352G probably benign Het
Snx33 T C 9: 56,833,862 (GRCm39) D69G probably benign Het
St8sia2 G T 7: 73,616,594 (GRCm39) P127H probably damaging Het
Thbd T C 2: 148,248,401 (GRCm39) K489R probably benign Het
Ttn A T 2: 76,767,049 (GRCm39) C3039S probably damaging Het
Vmn1r167 T C 7: 23,204,261 (GRCm39) M252V probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zfp827 G A 8: 79,906,708 (GRCm39) V907I probably 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
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 2015-04-16