Mutagenetix > Incidental Mutation

Incidental Mutation 'R5531:Bard1'

433670

Institutional Source

Beutler Lab

Gene Symbol

Bard1

Ensembl Gene

ENSMUSG00000026196

Gene Name

BRCA1 associated RING domain 1

Synonyms

ENSMUSG00000073653, ENSMUSG00000060893

MMRRC Submission

043089-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71066690-71142300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 71085880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 608 (C608W)

Ref Sequence

ENSEMBL: ENSMUSP00000027393 (fasta)

Gene Model

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

AlphaFold

O70445

Predicted Effect

probably damaging
Transcript: ENSMUST00000027393
AA Change: C608W

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

SMART Domains

Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: C608W

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

Meta Mutation Damage Score

0.5718

Coding Region Coverage

1x: 98.6%
3x: 97.5%
10x: 95.6%
20x: 92.2%

Validation Efficiency

97% (64/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,342,767 (GRCm39)	F878L	possibly damaging	Het
Acr	T	A	15: 89,458,146 (GRCm39)	Y276N	probably damaging	Het
AI987944	A	T	7: 41,023,814 (GRCm39)	Y388*	probably null	Het
Ankrd29	G	A	18: 12,412,835 (GRCm39)	T114I	probably damaging	Het
Ap5z1	T	C	5: 142,453,536 (GRCm39)	M168T	probably benign	Het
Brd10	A	G	19: 29,731,072 (GRCm39)	S647P	possibly damaging	Het
Clspn	A	G	4: 126,471,566 (GRCm39)	R907G	probably benign	Het
Cubn	C	T	2: 13,355,743 (GRCm39)	V1830I	probably benign	Het
Cwc22	T	C	2: 77,754,913 (GRCm39)	N221S	probably damaging	Het
Dact3	A	G	7: 16,609,540 (GRCm39)	E64G	possibly damaging	Het
Dhx40	T	C	11: 86,680,330 (GRCm39)	E381G	possibly damaging	Het
Dnah7a	A	G	1: 53,458,907 (GRCm39)	S3744P	possibly damaging	Het
Epha4	A	G	1: 77,351,513 (GRCm39)	V914A	probably benign	Het
Fbxw10	G	A	11: 62,753,482 (GRCm39)	C492Y	probably damaging	Het
G930045G22Rik	C	A	6: 50,824,756 (GRCm39)		noncoding transcript	Het
Gm21103	A	T	14: 17,484,855 (GRCm39)	I63K	probably damaging	Het
Gpr156	T	C	16: 37,825,619 (GRCm39)	V612A	probably benign	Het
Gucy2g	A	G	19: 55,229,572 (GRCm39)	S33P	probably benign	Het
Hibch	A	G	1: 52,884,228 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,619,539 (GRCm39)	C1192S	probably damaging	Het
Hsd11b1	CGG	CG	1: 192,922,557 (GRCm39)		probably null	Het
Ifi214	A	G	1: 173,352,686 (GRCm39)	Y248H	probably damaging	Het
Igf2bp2	T	G	16: 21,907,835 (GRCm39)	I89L	probably damaging	Het
Il2ra	A	T	2: 11,681,703 (GRCm39)	T103S	possibly damaging	Het
Ino80	T	A	2: 119,276,056 (GRCm39)	M407L	probably benign	Het
Jade1	A	C	3: 41,567,946 (GRCm39)	K671N	probably benign	Het
Lca5	C	T	9: 83,280,648 (GRCm39)	S384N	probably benign	Het
Lce1l	G	T	3: 92,757,804 (GRCm39)	P18H	unknown	Het
Lrrc8d	T	C	5: 105,945,536 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,195,489 (GRCm39)	N223S	probably damaging	Het
Mcm3	A	T	1: 20,873,768 (GRCm39)	F784Y	possibly damaging	Het
Ncf4	T	G	15: 78,144,988 (GRCm39)		probably benign	Het
Ncoa1	T	A	12: 4,303,746 (GRCm39)	M1362L	probably benign	Het
Or1e16	T	C	11: 73,286,003 (GRCm39)	T282A	probably benign	Het
Or5p5	A	G	7: 107,414,451 (GRCm39)	Y220C	probably benign	Het
Or6c8b	G	C	10: 128,882,433 (GRCm39)	F166L	probably damaging	Het
Prkg2	T	C	5: 99,115,593 (GRCm39)	R543G	probably damaging	Het
Ptprd	A	C	4: 75,977,904 (GRCm39)		probably null	Het
Scap	A	G	9: 110,210,497 (GRCm39)	S969G	possibly damaging	Het
Sgk2	T	C	2: 162,836,624 (GRCm39)	F60S	probably benign	Het
Sgpp1	G	T	12: 75,781,981 (GRCm39)	Y119*	probably null	Het
Siglech	A	T	7: 55,418,413 (GRCm39)	K31*	probably null	Het
Slc40a1	A	G	1: 45,951,498 (GRCm39)	Y220H	probably damaging	Het
Smurf2	G	A	11: 106,743,389 (GRCm39)	T219M	possibly damaging	Het
Speer4f2	A	G	5: 17,581,526 (GRCm39)	K156R	possibly damaging	Het
Spp1	T	G	5: 104,588,424 (GRCm39)	D276E	probably benign	Het
Stk32b	T	C	5: 37,617,078 (GRCm39)		probably null	Het
Stxbp5	G	A	10: 9,638,668 (GRCm39)	Q1044*	probably null	Het
Sv2c	T	A	13: 96,097,886 (GRCm39)	T696S	probably damaging	Het
Tubgcp2	A	C	7: 139,584,937 (GRCm39)		probably null	Het
Ubap1l	C	T	9: 65,278,973 (GRCm39)	P91S	probably damaging	Het
Vmn2r76	A	T	7: 85,874,657 (GRCm39)	D773E	probably damaging	Het
Xirp2	C	G	2: 67,345,646 (GRCm39)	S2629C	probably benign	Het
Zbtb20	C	A	16: 43,431,230 (GRCm39)	C580*	probably null	Het
Zfp957	T	A	14: 79,450,622 (GRCm39)	Q392H	unknown	Het
Zfyve19	C	T	2: 119,042,427 (GRCm39)	T178M	probably damaging	Het
Zswim6	T	C	13: 107,906,128 (GRCm39)		noncoding transcript	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
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
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'- CCGAGCAATGCATTTAAAACATGAG -3'
(R):5'- CATGTTGATGGCCAGGTTAAAA -3'

Sequencing Primer
(F):5'- CAGAGGTCCTGAGTTCAATTTCCAG -3'
(R):5'- TGTTGATGGCCAGGTTAAAAAGTAC -3'

Posted On

2016-10-06