Incidental Mutation 'IGL01547:Bcas2'
ID90364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcas2
Ensembl Gene ENSMUSG00000005687
Gene Namebreast carcinoma amplified sequence 2
SynonymsC76366, 6430539P16Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.962) question?
Stock #IGL01547
Quality Score
Status
Chromosome3
Chromosomal Location103171655-103179166 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103171999 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 49 (Y49H)
Ref Sequence ENSEMBL: ENSMUSP00000122413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005830] [ENSMUST00000135017] [ENSMUST00000155520] [ENSMUST00000172288] [ENSMUST00000173206]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005830
AA Change: Y49H

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005830
Gene: ENSMUSG00000005687
AA Change: Y49H

DomainStartEndE-ValueType
Pfam:BCAS2 11 216 6.2e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135017
AA Change: Y49H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122413
Gene: ENSMUSG00000005687
AA Change: Y49H

DomainStartEndE-ValueType
Pfam:BCAS2 6 77 2.8e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147042
Predicted Effect unknown
Transcript: ENSMUST00000155520
AA Change: L76P
SMART Domains Protein: ENSMUSP00000116250
Gene: ENSMUSG00000005687
AA Change: L76P

DomainStartEndE-ValueType
Pfam:BCAS2 6 46 9e-10 PFAM
low complexity region 52 66 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172288
SMART Domains Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379

DomainStartEndE-ValueType
uDENN 481 571 1.01e-25 SMART
DENN 578 762 3.36e-77 SMART
dDENN 806 873 1.15e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173037
Predicted Effect probably benign
Transcript: ENSMUST00000173206
SMART Domains Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379

DomainStartEndE-ValueType
uDENN 424 514 1.01e-25 SMART
DENN 521 705 3.36e-77 SMART
dDENN 749 816 1.15e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174060
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality. Pups of dams homozygous for a conditional allele activated in oocytes exhibit lethality of pups associated with defects in DNA damage repair and DNA replication. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,455,262 G243R possibly damaging Het
Afg3l1 T C 8: 123,501,351 V625A probably benign Het
Arhgap39 T C 15: 76,737,815 probably benign Het
Bag1 A G 4: 40,936,661 C332R probably damaging Het
Cacna1b C A 2: 24,632,035 probably benign Het
Cdyl A G 13: 35,790,162 D53G possibly damaging Het
Csmd3 T C 15: 47,883,617 I1322V probably benign Het
Evc2 C A 5: 37,393,087 A815E probably benign Het
Gm6309 C T 5: 146,168,411 D231N probably benign Het
Mtfr2 C T 10: 20,357,599 P305S probably damaging Het
Olfr301 A G 7: 86,412,871 N170D possibly damaging Het
Olfr639 A T 7: 104,012,660 I14N probably benign Het
Olfr77 A T 9: 19,920,901 I231F probably benign Het
Pcdhb1 A G 18: 37,267,342 H782R probably benign Het
Polr2a A G 11: 69,744,942 S480P probably damaging Het
Scaf11 T C 15: 96,418,429 T1085A probably benign Het
Sema6c C T 3: 95,172,398 R668C probably damaging Het
Tas2r123 C T 6: 132,847,458 T106I probably damaging Het
Tgm5 A G 2: 121,049,202 probably benign Het
Vmn2r23 T A 6: 123,704,424 I97N possibly damaging Het
Vmn2r6 T A 3: 64,538,104 K644N probably damaging Het
Zfp608 A G 18: 54,894,449 probably null Het
Other mutations in Bcas2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02557:Bcas2 APN 3 103171867 unclassified probably benign
R1911:Bcas2 UTSW 3 103171797 nonsense probably null
R2284:Bcas2 UTSW 3 103178362 missense probably damaging 1.00
R4574:Bcas2 UTSW 3 103174350 missense probably benign 0.01
R4676:Bcas2 UTSW 3 103175701 intron probably benign
R5335:Bcas2 UTSW 3 103175635 missense probably damaging 0.99
R5624:Bcas2 UTSW 3 103173261 missense probably benign
R5633:Bcas2 UTSW 3 103178424 nonsense probably null
R5723:Bcas2 UTSW 3 103177292 intron probably benign
R6051:Bcas2 UTSW 3 103174341 missense possibly damaging 0.83
R6301:Bcas2 UTSW 3 103171871 unclassified probably benign
R6444:Bcas2 UTSW 3 103172046 splice site probably null
Posted On2013-12-03