Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Bard1'

418130

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 #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

71066690-71142300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71106289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 446 (D446G)

Ref Sequence

ENSEMBL: ENSMUSP00000027393 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027393]

AlphaFold

O70445

Predicted Effect

probably damaging
Transcript: ENSMUST00000027393
AA Change: D446G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: D446G

Domain	Start	End	E-Value	Type
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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Acbd5	A	G	2: 22,979,722 (GRCm39)	T261A	probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Ces1c	T	C	8: 93,845,042 (GRCm39)	I120V	probably benign	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Fbxo25	T	C	8: 13,974,019 (GRCm39)		probably null	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mcmdc2	A	G	1: 10,001,170 (GRCm39)	M482V	possibly damaging	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,486,280 (GRCm39)		probably benign	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or4c12b	A	G	2: 89,647,015 (GRCm39)	E109G	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,274,389 (GRCm39)	V199A	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	possibly damaging	Het

Other mutations in Bard1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02