Incidental Mutation 'R0096:Bard1'
ID 17349
Institutional Source Beutler Lab
Gene Symbol Bard1
Ensembl Gene ENSMUSG00000026196
Gene Name BRCA1 associated RING domain 1
Synonyms ENSMUSG00000073653, ENSMUSG00000060893
MMRRC Submission 038382-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0096 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 71066690-71142300 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 71092889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027393]
AlphaFold O70445
Predicted Effect probably benign
Transcript: ENSMUST00000027393
SMART Domains Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196

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
  • 1x: 90.0%
  • 3x: 87.5%
  • 10x: 81.4%
  • 20x: 72.0%
Validation Efficiency 89% (76/85)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamts3 G A 5: 89,849,576 (GRCm39) Q615* probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Anks1b T C 10: 89,909,924 (GRCm39) S48P possibly damaging Het
Aoc1l2 A C 6: 48,908,122 (GRCm39) Q374P probably damaging Het
Arhgap42 G T 9: 9,009,314 (GRCm39) N524K probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Arid4b T C 13: 14,303,779 (GRCm39) V68A probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Capn3 A T 2: 120,333,010 (GRCm39) H592L possibly damaging Het
Cilp A G 9: 65,180,952 (GRCm39) T256A possibly damaging Het
Cpne8 T A 15: 90,384,118 (GRCm39) I481L probably benign Het
Dglucy A T 12: 100,804,910 (GRCm39) I134F possibly damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dthd1 A T 5: 63,000,383 (GRCm39) R568S possibly damaging Het
Efr3a A G 15: 65,727,290 (GRCm39) N613S probably damaging Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Fbrs C T 7: 127,088,659 (GRCm39) A145V probably damaging Het
Gm9873 A T 2: 168,863,029 (GRCm39) noncoding transcript Het
Grik1 T C 16: 87,831,114 (GRCm39) M219V possibly damaging Het
Gucy1a2 A T 9: 3,758,928 (GRCm39) probably benign Het
Itih5 G A 2: 10,256,189 (GRCm39) R885Q probably benign Het
Kat2a A T 11: 100,597,297 (GRCm39) V625E probably damaging Het
Kdm4c A G 4: 74,275,580 (GRCm39) E752G probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lama1 T A 17: 68,112,408 (GRCm39) F2283I probably benign Het
Luc7l3 A G 11: 94,192,320 (GRCm39) probably benign Het
Map1a A G 2: 121,131,986 (GRCm39) E696G probably damaging Het
Mrps34 A G 17: 25,114,643 (GRCm39) D110G probably damaging Het
Myh11 T A 16: 14,022,231 (GRCm39) K1710M possibly damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Nol4 T G 18: 23,054,915 (GRCm39) T58P possibly damaging Het
Nos1ap T C 1: 170,156,816 (GRCm39) D214G probably damaging Het
Or4c119 A T 2: 88,986,640 (GRCm39) M293K probably benign Het
Pde4dip A C 3: 97,674,783 (GRCm39) D44E probably damaging Het
Pip4k2a G A 2: 18,893,850 (GRCm39) probably benign Het
Prmt8 T A 6: 127,709,590 (GRCm39) probably benign Het
Pygl A T 12: 70,237,940 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,786,290 (GRCm39) D643G probably damaging Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Skint5 A T 4: 113,454,965 (GRCm39) probably benign Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Sycp2 G T 2: 178,045,528 (GRCm39) Q31K probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tektl1 T A 10: 78,584,539 (GRCm39) I328L probably benign Het
Trf A G 9: 103,099,358 (GRCm39) F300L probably damaging Het
Vmn2r105 A G 17: 20,447,741 (GRCm39) F361S possibly damaging Het
Vmn2r79 A G 7: 86,686,527 (GRCm39) Y636C probably damaging Het
Wdr59 T C 8: 112,231,005 (GRCm39) N68D probably damaging Het
Other mutations in Bard1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00706:Bard1 APN 1 71,070,585 (GRCm39) missense probably benign 0.08
IGL02128:Bard1 APN 1 71,114,387 (GRCm39) missense possibly damaging 0.66
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
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 2013-01-20