Incidental Mutation 'IGL03403:Bcar3'
ID 421497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcar3
Ensembl Gene ENSMUSG00000028121
Gene Name breast cancer anti-estrogen resistance 3
Synonyms AND-34
Accession Numbers
Essential gene? Possibly essential (E-score: 0.561) question?
Stock # IGL03403
Quality Score
Status
Chromosome 3
Chromosomal Location 122213406-122323840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122306618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 197 (V197A)
Ref Sequence ENSEMBL: ENSMUSP00000143711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029766] [ENSMUST00000197073] [ENSMUST00000198659] [ENSMUST00000199344] [ENSMUST00000199358]
AlphaFold Q9QZK2
Predicted Effect probably benign
Transcript: ENSMUST00000029766
AA Change: V546A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: V546A

DomainStartEndE-ValueType
low complexity region 126 145 N/A INTRINSIC
SH2 146 234 3.17e-21 SMART
low complexity region 395 406 N/A INTRINSIC
RasGEF 539 814 2.55e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197073
SMART Domains Protein: ENSMUSP00000142469
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 41 60 N/A INTRINSIC
SH2 61 149 2e-23 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197956
Predicted Effect probably benign
Transcript: ENSMUST00000198659
SMART Domains Protein: ENSMUSP00000143112
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3T6A|D 149 186 4e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000199344
AA Change: V197A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000143711
Gene: ENSMUSG00000028121
AA Change: V197A

DomainStartEndE-ValueType
low complexity region 46 57 N/A INTRINSIC
PDB:3T6A|D 149 261 3e-61 PDB
SCOP:d1bkds_ 168 260 1e-7 SMART
Blast:RasGEF 190 261 2e-42 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000199358
SMART Domains Protein: ENSMUSP00000142340
Gene: ENSMUSG00000028121

DomainStartEndE-ValueType
low complexity region 6 25 N/A INTRINSIC
SH2 26 114 2e-23 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cataracts due to rupture of the lens capsule and liquefaction of lens cortical fibers. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 T A 15: 11,241,574 (GRCm39) I382N probably damaging Het
Adamts5 T C 16: 85,659,902 (GRCm39) T797A probably damaging Het
Ahr A T 12: 35,554,325 (GRCm39) V598E possibly damaging Het
Akap10 A G 11: 61,806,099 (GRCm39) S210P probably benign Het
Asb5 G T 8: 55,036,582 (GRCm39) probably benign Het
AU041133 T C 10: 81,974,178 (GRCm39) V31A probably damaging Het
Bptf A G 11: 106,990,559 (GRCm39) V510A possibly damaging Het
Ccar2 A T 14: 70,377,517 (GRCm39) D712E probably damaging Het
Cenpt G A 8: 106,576,297 (GRCm39) Q85* probably null Het
Ciita C A 16: 10,321,736 (GRCm39) H98N probably damaging Het
Cplane1 A C 15: 8,230,826 (GRCm39) K1034N probably damaging Het
Csn1s1 T A 5: 87,815,152 (GRCm39) M16K probably benign Het
Fah A G 7: 84,242,417 (GRCm39) I297T probably damaging Het
Fbxo25 A G 8: 13,979,423 (GRCm39) N214D probably benign Het
Frem3 A C 8: 81,337,719 (GRCm39) D4A probably benign Het
Gm3409 A G 5: 146,476,334 (GRCm39) K162E probably benign Het
Gxylt1 T C 15: 93,159,656 (GRCm39) D148G possibly damaging Het
Hoxd4 A T 2: 74,558,681 (GRCm39) E168V possibly damaging Het
Ifna6 A G 4: 88,745,695 (GRCm39) S15G possibly damaging Het
Iqck T A 7: 118,475,494 (GRCm39) H97Q probably benign Het
Kif16b T A 2: 142,553,789 (GRCm39) E1003V probably damaging Het
Lrp1b G A 2: 40,592,836 (GRCm39) P3761L probably benign Het
Mc4r C T 18: 66,992,597 (GRCm39) C172Y possibly damaging Het
Oosp1 T A 19: 11,664,744 (GRCm39) N104I probably damaging Het
Or2z9 A G 8: 72,854,341 (GRCm39) T246A probably benign Het
Pram1 A T 17: 33,861,117 (GRCm39) I513F probably damaging Het
Pramel18 T C 4: 101,767,125 (GRCm39) S125P probably benign Het
Rasef A G 4: 73,652,771 (GRCm39) S577P probably damaging Het
Rfx8 T C 1: 39,729,333 (GRCm39) D144G possibly damaging Het
Rreb1 A C 13: 38,113,550 (GRCm39) N303T possibly damaging Het
Rrn3 A T 16: 13,617,809 (GRCm39) K351* probably null Het
Sox30 A T 11: 45,908,035 (GRCm39) E734V probably damaging Het
Spns1 C T 7: 125,970,708 (GRCm39) probably null Het
Tgfbr2 T A 9: 115,939,370 (GRCm39) E177D probably benign Het
Tnfaip8l3 A G 9: 53,934,741 (GRCm39) M78T possibly damaging Het
Vmn2r92 C T 17: 18,387,114 (GRCm39) T151I probably damaging Het
Wwc1 A G 11: 35,806,111 (GRCm39) Y41H possibly damaging Het
Zfp407 A T 18: 84,578,922 (GRCm39) N730K probably damaging Het
Other mutations in Bcar3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Bcar3 APN 3 122,306,585 (GRCm39) missense probably benign 0.36
IGL01372:Bcar3 APN 3 122,316,943 (GRCm39) missense probably damaging 1.00
IGL02681:Bcar3 APN 3 122,306,417 (GRCm39) splice site probably null
R0408:Bcar3 UTSW 3 122,302,033 (GRCm39) missense probably damaging 0.98
R0531:Bcar3 UTSW 3 122,220,148 (GRCm39) missense probably benign 0.00
R0798:Bcar3 UTSW 3 122,318,948 (GRCm39) missense probably benign 0.01
R1445:Bcar3 UTSW 3 122,316,840 (GRCm39) missense probably damaging 0.98
R1892:Bcar3 UTSW 3 122,301,785 (GRCm39) missense probably benign 0.00
R2138:Bcar3 UTSW 3 122,306,645 (GRCm39) missense probably damaging 1.00
R3236:Bcar3 UTSW 3 122,318,645 (GRCm39) missense probably benign 0.02
R3237:Bcar3 UTSW 3 122,318,645 (GRCm39) missense probably benign 0.02
R3832:Bcar3 UTSW 3 122,220,298 (GRCm39) missense probably damaging 1.00
R4801:Bcar3 UTSW 3 122,323,243 (GRCm39) missense probably benign 0.22
R4802:Bcar3 UTSW 3 122,323,243 (GRCm39) missense probably benign 0.22
R5342:Bcar3 UTSW 3 122,220,298 (GRCm39) missense probably damaging 1.00
R5364:Bcar3 UTSW 3 122,323,281 (GRCm39) missense probably benign 0.41
R5560:Bcar3 UTSW 3 122,220,224 (GRCm39) missense possibly damaging 0.92
R5714:Bcar3 UTSW 3 122,248,736 (GRCm39) missense possibly damaging 0.88
R5716:Bcar3 UTSW 3 122,306,564 (GRCm39) missense probably damaging 1.00
R5944:Bcar3 UTSW 3 122,316,932 (GRCm39) missense probably benign
R6478:Bcar3 UTSW 3 122,220,225 (GRCm39) missense probably benign 0.04
R6615:Bcar3 UTSW 3 122,220,282 (GRCm39) missense probably benign 0.00
R6996:Bcar3 UTSW 3 122,302,033 (GRCm39) missense possibly damaging 0.95
R7272:Bcar3 UTSW 3 122,302,045 (GRCm39) missense possibly damaging 0.92
R7308:Bcar3 UTSW 3 122,302,142 (GRCm39) missense probably benign 0.00
R7353:Bcar3 UTSW 3 122,306,341 (GRCm39) missense probably benign 0.00
R7465:Bcar3 UTSW 3 122,316,879 (GRCm39) missense probably benign 0.13
R7816:Bcar3 UTSW 3 122,220,343 (GRCm39) missense probably benign 0.00
R7899:Bcar3 UTSW 3 122,301,902 (GRCm39) missense probably damaging 0.97
R8066:Bcar3 UTSW 3 122,318,573 (GRCm39) missense probably damaging 1.00
R8165:Bcar3 UTSW 3 122,304,805 (GRCm39) unclassified probably benign
R8285:Bcar3 UTSW 3 122,306,383 (GRCm39) missense probably benign 0.00
R9224:Bcar3 UTSW 3 122,319,091 (GRCm39) missense probably damaging 1.00
R9340:Bcar3 UTSW 3 122,298,462 (GRCm39) start gained probably benign
R9480:Bcar3 UTSW 3 122,277,618 (GRCm39) nonsense probably null
R9631:Bcar3 UTSW 3 122,301,801 (GRCm39) missense possibly damaging 0.91
Z1177:Bcar3 UTSW 3 122,298,667 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02