Incidental Mutation 'IGL02220:Bcar1'
ID 285121
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcar1
Ensembl Gene ENSMUSG00000031955
Gene Name breast cancer anti-estrogen resistance 1
Synonyms Cas, p130Cas, Crkas
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02220
Quality Score
Status
Chromosome 8
Chromosomal Location 112437106-112470441 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112437839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 767 (D767G)
Ref Sequence ENSEMBL: ENSMUSP00000148364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166232] [ENSMUST00000212349]
AlphaFold Q61140
Predicted Effect possibly damaging
Transcript: ENSMUST00000166232
AA Change: D767G

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129584
Gene: ENSMUSG00000031955
AA Change: D767G

DomainStartEndE-ValueType
SH3 6 64 3e-20 SMART
low complexity region 71 92 N/A INTRINSIC
low complexity region 332 345 N/A INTRINSIC
low complexity region 353 388 N/A INTRINSIC
low complexity region 430 448 N/A INTRINSIC
Pfam:Serine_rich 458 612 9e-49 PFAM
Pfam:DUF3513 658 868 2.1e-78 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000212349
AA Change: D767G

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BCAR1, or CAS, is an Src (MIM 190090) family kinase substrate involved in various cellular events, including migration, survival, transformation, and invasion (Sawada et al., 2006 [PubMed 17129785]).[supplied by OMIM, May 2009]
PHENOTYPE: Homozygous null embryos exhibit growth retardation and embryonic lethality, following disruption of cardiac myofibrils, increased vasodilation, and systemic congestion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,310,395 (GRCm39) D460G probably damaging Het
Ankrd9 T C 12: 110,943,933 (GRCm39) M1V probably null Het
Anks1 T C 17: 28,273,681 (GRCm39) I977T probably damaging Het
Bcl6 A T 16: 23,793,641 (GRCm39) I102N probably damaging Het
Cacna2d2 G A 9: 107,392,078 (GRCm39) G473D probably damaging Het
Cdh23 G T 10: 60,140,903 (GRCm39) H3148Q probably damaging Het
Col6a4 A G 9: 105,940,141 (GRCm39) V1263A possibly damaging Het
Crtc2 T C 3: 90,166,455 (GRCm39) probably benign Het
D130043K22Rik G A 13: 25,067,738 (GRCm39) G825S possibly damaging Het
Dera T A 6: 137,757,815 (GRCm39) probably null Het
Dnah17 G T 11: 117,963,793 (GRCm39) Y2506* probably null Het
Enam T A 5: 88,652,418 (GRCm39) L1309* probably null Het
Fbxo15 G A 18: 84,982,317 (GRCm39) probably null Het
Fgfbp1 T C 5: 44,136,828 (GRCm39) K155E probably damaging Het
Foxj2 C T 6: 122,815,540 (GRCm39) probably benign Het
Fuca1 A G 4: 135,666,530 (GRCm39) probably benign Het
Gad1-ps T A 10: 99,281,184 (GRCm39) noncoding transcript Het
H2-Eb2 C T 17: 34,544,661 (GRCm39) probably benign Het
Insr A T 8: 3,209,578 (GRCm39) F1168L probably damaging Het
Isx T A 8: 75,619,333 (GRCm39) V175E possibly damaging Het
Kansl3 T C 1: 36,407,070 (GRCm39) probably benign Het
Lin9 T C 1: 180,494,932 (GRCm39) I218T probably damaging Het
Llgl2 C A 11: 115,736,205 (GRCm39) A126D possibly damaging Het
Ltbp2 T C 12: 84,876,083 (GRCm39) E488G possibly damaging Het
Maml3 A G 3: 51,597,639 (GRCm39) V369A possibly damaging Het
Mthfsl A G 9: 88,597,708 (GRCm39) I14T probably damaging Het
Myo3b A G 2: 70,119,923 (GRCm39) probably benign Het
Nfkbil1 T C 17: 35,439,722 (GRCm39) R264G possibly damaging Het
Or4c3d A G 2: 89,882,038 (GRCm39) L210P probably damaging Het
Pde5a G T 3: 122,542,031 (GRCm39) A174S probably benign Het
Plch1 A T 3: 63,606,382 (GRCm39) I1173N probably damaging Het
Ppfia1 C A 7: 144,035,512 (GRCm39) R1171L probably damaging Het
Prom1 T C 5: 44,172,131 (GRCm39) D595G probably damaging Het
Ptprz1 T C 6: 23,042,742 (GRCm39) probably benign Het
Samsn1 A G 16: 75,680,763 (GRCm39) probably null Het
Sbno2 T A 10: 79,908,202 (GRCm39) T66S probably benign Het
Serpina1c T A 12: 103,862,338 (GRCm39) I326F probably damaging Het
Slc12a1 T C 2: 125,030,190 (GRCm39) probably null Het
Slc18a2 A G 19: 59,264,988 (GRCm39) E324G probably benign Het
Slc40a1 A T 1: 45,950,495 (GRCm39) M319K probably damaging Het
Slc44a5 T C 3: 153,956,608 (GRCm39) Y287H possibly damaging Het
Stx4a A G 7: 127,441,672 (GRCm39) E63G possibly damaging Het
Sv2a T C 3: 96,098,032 (GRCm39) F545S probably benign Het
Svop T C 5: 114,203,589 (GRCm39) D65G probably benign Het
Tex30 A T 1: 44,126,182 (GRCm39) S182R probably benign Het
Tmem121b T C 6: 120,469,298 (GRCm39) D473G probably damaging Het
Tnfrsf19 C A 14: 61,210,941 (GRCm39) probably benign Het
Tnrc6a T C 7: 122,769,679 (GRCm39) S490P probably benign Het
Ubr4 A G 4: 139,115,746 (GRCm39) T82A probably benign Het
Vps16 A G 2: 130,283,573 (GRCm39) D589G possibly damaging Het
Zscan29 A C 2: 120,997,170 (GRCm39) S184A probably damaging Het
Other mutations in Bcar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02852:Bcar1 APN 8 112,441,979 (GRCm39) nonsense probably null
R1914:Bcar1 UTSW 8 112,442,030 (GRCm39) missense probably damaging 0.98
R1915:Bcar1 UTSW 8 112,442,030 (GRCm39) missense probably damaging 0.98
R4130:Bcar1 UTSW 8 112,440,797 (GRCm39) missense possibly damaging 0.47
R4249:Bcar1 UTSW 8 112,447,525 (GRCm39) missense probably benign
R4437:Bcar1 UTSW 8 112,442,021 (GRCm39) missense probably damaging 1.00
R4794:Bcar1 UTSW 8 112,447,552 (GRCm39) nonsense probably null
R4937:Bcar1 UTSW 8 112,447,669 (GRCm39) missense probably damaging 0.98
R5402:Bcar1 UTSW 8 112,440,962 (GRCm39) missense probably damaging 1.00
R5951:Bcar1 UTSW 8 112,440,032 (GRCm39) missense probably benign 0.02
R6443:Bcar1 UTSW 8 112,441,970 (GRCm39) missense probably damaging 1.00
R7595:Bcar1 UTSW 8 112,447,625 (GRCm39) missense probably benign 0.01
R8313:Bcar1 UTSW 8 112,440,270 (GRCm39) missense probably benign 0.01
R8373:Bcar1 UTSW 8 112,442,370 (GRCm39) nonsense probably null
R9037:Bcar1 UTSW 8 112,447,522 (GRCm39) missense probably benign 0.10
R9205:Bcar1 UTSW 8 112,442,341 (GRCm39) missense probably damaging 1.00
R9602:Bcar1 UTSW 8 112,440,498 (GRCm39) missense probably benign 0.22
RF025:Bcar1 UTSW 8 112,440,809 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16