Incidental Mutation 'IGL02128:Bard1'
ID 280943
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bard1
Ensembl Gene ENSMUSG00000026196
Gene Name BRCA1 associated RING domain 1
Synonyms ENSMUSG00000073653, ENSMUSG00000060893
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02128
Quality Score
Status
Chromosome 1
Chromosomal Location 71066690-71142300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71114387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 198 (K198R)
Ref Sequence ENSEMBL: ENSMUSP00000027393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027393]
AlphaFold O70445
Predicted Effect possibly damaging
Transcript: ENSMUST00000027393
AA Change: K198R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: K198R

DomainStartEndE-ValueType
low complexity region 32 43 N/A INTRINSIC
RING 44 80 3.71e-2 SMART
low complexity region 225 232 N/A INTRINSIC
low complexity region 371 390 N/A INTRINSIC
ANK 415 444 3.46e-4 SMART
ANK 448 477 8.32e-7 SMART
ANK 481 510 1.55e-6 SMART
BRCT 553 631 3.56e-10 SMART
BRCT 657 758 2.35e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage. The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad1 A T 19: 32,664,727 (GRCm39) probably benign Het
Brca1 A G 11: 101,421,808 (GRCm39) probably benign Het
Col6a5 T C 9: 105,817,093 (GRCm39) E406G unknown Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxcr2 A G 1: 74,198,153 (GRCm39) T216A probably benign Het
Dnah7a C T 1: 53,476,672 (GRCm39) S3424N probably damaging Het
Golgb1 T G 16: 36,736,666 (GRCm39) L1971R probably damaging Het
Hspg2 T G 4: 137,291,327 (GRCm39) C3892W probably damaging Het
Jmjd1c T C 10: 67,079,648 (GRCm39) L2214P probably damaging Het
Klkb1 A T 8: 45,740,068 (GRCm39) F75I probably damaging Het
Loxl3 T A 6: 83,027,564 (GRCm39) V702E probably damaging Het
Pcdh18 T A 3: 49,711,135 (GRCm39) N60I possibly damaging Het
Pex5 A T 6: 124,375,419 (GRCm39) N534K probably damaging Het
Ppp1r16a T A 15: 76,578,178 (GRCm39) L383Q probably benign Het
Rp1 A G 1: 4,417,608 (GRCm39) V1168A probably damaging Het
Scpppq1 A G 5: 104,222,569 (GRCm39) probably null Het
Slc2a2 A G 3: 28,773,550 (GRCm39) E285G probably damaging Het
Stab1 T A 14: 30,872,398 (GRCm39) N1171I probably damaging Het
Vcl A G 14: 21,070,645 (GRCm39) I744V probably benign Het
Other mutations in Bard1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Bard1 APN 1 71,070,585 (GRCm39) missense probably benign 0.08
IGL02249:Bard1 APN 1 71,092,828 (GRCm39) missense probably damaging 1.00
IGL02552:Bard1 APN 1 71,104,815 (GRCm39) splice site probably benign
IGL02661:Bard1 APN 1 71,114,469 (GRCm39) missense probably damaging 1.00
IGL03087:Bard1 APN 1 71,106,289 (GRCm39) missense probably damaging 1.00
PIT4651001:Bard1 UTSW 1 71,114,087 (GRCm39) missense probably benign 0.00
R0096:Bard1 UTSW 1 71,092,889 (GRCm39) splice site probably benign
R0328:Bard1 UTSW 1 71,085,921 (GRCm39) missense probably benign 0.29
R0838:Bard1 UTSW 1 71,069,812 (GRCm39) missense probably damaging 1.00
R2007:Bard1 UTSW 1 71,070,562 (GRCm39) missense probably benign 0.00
R2055:Bard1 UTSW 1 71,114,031 (GRCm39) missense probably benign 0.00
R2110:Bard1 UTSW 1 71,114,550 (GRCm39) nonsense probably null
R2237:Bard1 UTSW 1 71,114,135 (GRCm39) missense probably damaging 1.00
R2416:Bard1 UTSW 1 71,113,811 (GRCm39) missense probably benign
R3054:Bard1 UTSW 1 71,127,390 (GRCm39) missense possibly damaging 0.77
R3055:Bard1 UTSW 1 71,127,390 (GRCm39) missense possibly damaging 0.77
R3056:Bard1 UTSW 1 71,127,390 (GRCm39) missense possibly damaging 0.77
R3871:Bard1 UTSW 1 71,114,099 (GRCm39) missense probably benign 0.05
R3905:Bard1 UTSW 1 71,106,339 (GRCm39) missense possibly damaging 0.70
R4117:Bard1 UTSW 1 71,085,922 (GRCm39) missense probably damaging 1.00
R4766:Bard1 UTSW 1 71,114,333 (GRCm39) missense probably benign 0.01
R5230:Bard1 UTSW 1 71,092,770 (GRCm39) critical splice donor site probably null
R5250:Bard1 UTSW 1 71,113,722 (GRCm39) missense probably damaging 1.00
R5531:Bard1 UTSW 1 71,085,880 (GRCm39) missense probably damaging 1.00
R5653:Bard1 UTSW 1 71,070,588 (GRCm39) missense probably benign
R6008:Bard1 UTSW 1 71,069,909 (GRCm39) missense possibly damaging 0.65
R7503:Bard1 UTSW 1 71,069,995 (GRCm39) missense probably damaging 1.00
R7543:Bard1 UTSW 1 71,114,589 (GRCm39) missense probably damaging 1.00
R7750:Bard1 UTSW 1 71,106,101 (GRCm39) splice site probably null
R8134:Bard1 UTSW 1 71,106,297 (GRCm39) missense probably damaging 1.00
R8714:Bard1 UTSW 1 71,069,986 (GRCm39) missense probably damaging 1.00
R9057:Bard1 UTSW 1 71,069,807 (GRCm39) missense probably damaging 1.00
R9534:Bard1 UTSW 1 71,114,189 (GRCm39) missense probably benign 0.45
V8831:Bard1 UTSW 1 71,127,376 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16