Incidental Mutation 'PIT4651001:Bard1'
ID 556638
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 # PIT4651001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 71066690-71142300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71114087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 298 (V298A)
Ref Sequence ENSEMBL: ENSMUSP00000027393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027393]
AlphaFold O70445
Predicted Effect probably benign
Transcript: ENSMUST00000027393
AA Change: V298A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: V298A

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: 93.1%
  • 3x: 90.7%
  • 10x: 84.4%
  • 20x: 70.4%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,408,014 (GRCm39) I428L probably benign Het
Aass T C 6: 23,118,750 (GRCm39) I131V probably benign Het
Alcam T A 16: 52,115,550 (GRCm39) K189N probably benign Het
Ankrd50 C A 3: 38,509,959 (GRCm39) E803* probably null Het
Ankrd53 A G 6: 83,742,715 (GRCm39) D236G probably damaging Het
Cacna1d C T 14: 29,900,602 (GRCm39) G361D probably damaging Het
Camkk1 A G 11: 72,916,647 (GRCm39) S82G probably benign Het
Ccr4 A T 9: 114,321,261 (GRCm39) V268E probably benign Het
Cdh6 G A 15: 13,044,805 (GRCm39) S439L possibly damaging Het
Ces1e G T 8: 93,941,711 (GRCm39) A254E probably benign Het
Cfap46 T C 7: 139,225,467 (GRCm39) T1078A Het
Cyp46a1 A G 12: 108,319,367 (GRCm39) D288G probably benign Het
Dnah6 T C 6: 73,037,243 (GRCm39) N3333S probably benign Het
Dzip3 A G 16: 48,765,241 (GRCm39) V491A probably benign Het
Egr1 G T 18: 34,996,240 (GRCm39) E341* probably null Het
Enpp1 G A 10: 24,529,848 (GRCm39) P597S probably benign Het
Ercc3 A T 18: 32,373,365 (GRCm39) probably benign Het
Fbn1 T C 2: 125,205,909 (GRCm39) probably null Het
Fbxw11 T C 11: 32,661,999 (GRCm39) probably null Het
Fhip1a C T 3: 85,590,948 (GRCm39) A389T probably damaging Het
Gbf1 A G 19: 46,151,982 (GRCm39) N5S probably benign Het
Gbp4 T A 5: 105,266,289 (GRCm39) H584L probably benign Het
Gcgr G T 11: 120,428,968 (GRCm39) C402F probably damaging Het
Grm7 T A 6: 110,623,050 (GRCm39) N74K probably benign Het
H1f9 A G 11: 94,859,142 (GRCm39) S146G probably benign Het
Hoxa10 T G 6: 52,211,877 (GRCm39) N13T possibly damaging Het
Ice1 A T 13: 70,772,040 (GRCm39) probably null Het
Il22 C A 10: 118,041,495 (GRCm39) N69K probably damaging Het
Il9r A T 11: 32,141,798 (GRCm39) H319Q probably benign Het
Itgax A G 7: 127,748,282 (GRCm39) T1104A probably benign Het
Jag1 C T 2: 136,943,617 (GRCm39) G193D probably damaging Het
Krt13 T A 11: 100,010,862 (GRCm39) D164V probably damaging Het
Lepr T C 4: 101,649,194 (GRCm39) M865T probably damaging Het
Lmf2 G A 15: 89,236,272 (GRCm39) H576Y possibly damaging Het
Lrrc8c C T 5: 105,756,189 (GRCm39) H655Y probably benign Het
Mapk6 A T 9: 75,304,869 (GRCm39) S183T possibly damaging Het
Mcrs1 A T 15: 99,144,832 (GRCm39) Y261N probably damaging Het
Mon1b G A 8: 114,365,254 (GRCm39) G194D probably benign Het
Myo18b C T 5: 112,982,301 (GRCm39) R1144Q probably benign Het
Myo9b T A 8: 71,795,456 (GRCm39) H808Q possibly damaging Het
Ngdn T C 14: 55,253,657 (GRCm39) I15T probably benign Het
Nhsl1 T G 10: 18,284,183 (GRCm39) S41R probably damaging Het
Numa1 A T 7: 101,663,141 (GRCm39) K2089M probably damaging Het
Obi1 T A 14: 104,743,692 (GRCm39) D129V probably damaging Het
Obscn A G 11: 58,932,507 (GRCm39) L4900P probably damaging Het
Olfm4 T A 14: 80,258,925 (GRCm39) L391Q probably benign Het
Or10g9b A T 9: 39,917,526 (GRCm39) C240S probably damaging Het
Or2ag1 A G 7: 106,472,730 (GRCm39) C241R probably damaging Het
Or5b106 T A 19: 13,123,991 (GRCm39) I11F probably benign Het
Or5b111 A G 19: 13,291,556 (GRCm39) I31T probably benign Het
Or5m9 T C 2: 85,876,862 (GRCm39) L12P probably damaging Het
Parn T A 16: 13,449,431 (GRCm39) N302Y probably benign Het
Pi4k2b T G 5: 52,905,812 (GRCm39) S118A possibly damaging Het
Piwil4 C T 9: 14,620,195 (GRCm39) V704I possibly damaging Het
Pm20d2 G A 4: 33,181,715 (GRCm39) T296M probably damaging Het
Pmpcb C T 5: 21,951,048 (GRCm39) A270V probably benign Het
Pnpt1 T C 11: 29,106,945 (GRCm39) probably null Het
Prkn T A 17: 11,286,130 (GRCm39) L41Q probably damaging Het
Rc3h1 C A 1: 160,791,110 (GRCm39) N931K probably benign Het
Rlf A G 4: 121,007,510 (GRCm39) V600A probably damaging Het
Rpl27rt A T 18: 34,870,892 (GRCm39) Q142L unknown Het
Sall1 T G 8: 89,757,731 (GRCm39) Q791P probably damaging Het
Sema3c T A 5: 17,899,731 (GRCm39) Y408N probably benign Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Tmem181a A T 17: 6,351,170 (GRCm39) M319L probably benign Het
Trim24 T C 6: 37,877,667 (GRCm39) probably null Het
Ttn T A 2: 76,719,278 (GRCm39) T7234S unknown Het
Unc13c T A 9: 73,391,021 (GRCm39) M2076L possibly damaging Het
Uroc1 C T 6: 90,340,095 (GRCm39) R667* probably null Het
Uvrag A G 7: 98,555,727 (GRCm39) F456L probably benign Het
Vmn1r215 T C 13: 23,260,530 (GRCm39) V190A probably damaging Het
Vmn2r50 T A 7: 9,771,659 (GRCm39) T681S probably benign Het
Vmn2r65 T A 7: 84,595,461 (GRCm39) T408S probably benign Het
Vps33b A G 7: 79,939,755 (GRCm39) D502G 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
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
Predicted Primers PCR Primer
(F):5'- AGTGTGACATCAACCTGTAGCTG -3'
(R):5'- AGAAGGTTGTCTCCTGTAGCC -3'

Sequencing Primer
(F):5'- ATCAACCTGTAGCTGGCCTGAAG -3'
(R):5'- GAAGGTTGTCTCCTGTAGCCAAATAC -3'
Posted On 2019-06-07