Incidental Mutation 'R3905:Bard1'
ID 309123
Institutional Source Beutler Lab
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 # R3905 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 71066690-71142300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71106339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 429 (I429M)
Ref Sequence ENSEMBL: ENSMUSP00000027393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027393]
AlphaFold O70445
Predicted Effect possibly damaging
Transcript: ENSMUST00000027393
AA Change: I429M

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: I429M

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,307,389 (GRCm39) I1964N possibly damaging Het
Abca12 A G 1: 71,318,616 (GRCm39) F1796L probably benign Het
Abca17 T A 17: 24,515,257 (GRCm39) M821L probably benign Het
Adamts3 C A 5: 90,009,214 (GRCm39) G150C probably damaging Het
Ap4b1 A T 3: 103,726,209 (GRCm39) I262F possibly damaging Het
Atp1a1 T A 3: 101,497,928 (GRCm39) E286D probably benign Het
Bcl7c T C 7: 127,266,155 (GRCm39) R198G possibly damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Ccdc159 T A 9: 21,845,815 (GRCm39) probably null Het
Cct7 A T 6: 85,443,690 (GRCm39) I353F possibly damaging Het
Cfap57 A G 4: 118,453,036 (GRCm39) Y556H probably damaging Het
Fat1 G C 8: 45,476,072 (GRCm39) R1706T probably benign Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gcat T C 15: 78,927,531 (GRCm39) L324P possibly damaging Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Il22 C T 10: 118,041,529 (GRCm39) R81* probably null Het
Impa1 T C 3: 10,381,094 (GRCm39) T263A probably benign Het
Kif13a T C 13: 46,956,166 (GRCm39) Y609C probably damaging Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lrfn1 G A 7: 28,166,294 (GRCm39) G563R possibly damaging Het
Mark1 A C 1: 184,640,632 (GRCm39) probably null Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Myo3a T A 2: 22,448,227 (GRCm39) Y1N probably damaging Het
Nek3 T C 8: 22,623,107 (GRCm39) E309G probably benign Het
Or10h28 T C 17: 33,487,749 (GRCm39) F17S probably damaging Het
Otoa A T 7: 120,724,788 (GRCm39) Q489L probably damaging Het
Oxsr1 T C 9: 119,076,178 (GRCm39) E376G probably benign Het
Piezo1 C T 8: 123,208,882 (GRCm39) E2494K probably damaging Het
Pkd1l3 A G 8: 110,373,511 (GRCm39) H1349R probably benign Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Pwwp3a T C 10: 80,074,150 (GRCm39) V401A probably damaging Het
Robo4 T A 9: 37,314,801 (GRCm39) C218* probably null Het
Rxfp2 A T 5: 149,979,450 (GRCm39) probably null Het
Slc10a1 A G 12: 81,014,441 (GRCm39) I93T probably damaging Het
Tarbp1 C T 8: 127,154,891 (GRCm39) R1411Q probably damaging Het
Tbl3 C T 17: 24,921,006 (GRCm39) D563N probably damaging Het
Tec A G 5: 72,917,705 (GRCm39) S505P probably damaging Het
Toporsl A T 4: 52,611,750 (GRCm39) R548* probably null Het
Vmn1r39 G A 6: 66,781,479 (GRCm39) Q243* probably null Het
Vmn2r9 C A 5: 108,995,785 (GRCm39) A288S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- ACTTTCCTGTCACAACTGAAAAGC -3'
(R):5'- ACGACTTGGCATCTCAGGAC -3'

Sequencing Primer
(F):5'- TCCTGTCACAACTGAAAAGCTAGATG -3'
(R):5'- CTTGGCATCTCAGGACTTTAGAGAC -3'
Posted On 2015-04-17