Mutagenetix > Incidental Mutation

Incidental Mutation 'R2110:Bard1'

232432

Institutional Source

Beutler Lab

Gene Symbol

Bard1

Ensembl Gene

ENSMUSG00000026196

Gene Name

BRCA1 associated RING domain 1

Synonyms

ENSMUSG00000073653, ENSMUSG00000060893

MMRRC Submission

040114-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2110 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71066690-71142300 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 71114550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 144 (K144*)

Ref Sequence

ENSEMBL: ENSMUSP00000027393 (fasta)

Gene Model

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

AlphaFold

O70445

Predicted Effect

probably null
Transcript: ENSMUST00000027393
AA Change: K144*

SMART Domains

Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: K144*

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

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330161L09Rik	T	C	12: 103,373,848 (GRCm39)		probably benign	Het
Ablim1	T	C	19: 57,032,245 (GRCm39)	D638G	possibly damaging	Het
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Aim2	T	C	1: 173,287,279 (GRCm39)	M93T	probably benign	Het
Alpk2	T	C	18: 65,440,151 (GRCm39)	E414G	possibly damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Begain	G	T	12: 108,999,843 (GRCm39)	Y514*	probably null	Het
Ccdc186	A	T	19: 56,788,574 (GRCm39)	I545N	possibly damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cfap43	T	C	19: 47,824,197 (GRCm39)	Y58C	probably damaging	Het
Cfap54	A	T	10: 92,722,229 (GRCm39)	D2437E	unknown	Het
Chd2	A	G	7: 73,079,735 (GRCm39)	S1722P	probably benign	Het
Clec5a	C	T	6: 40,562,137 (GRCm39)	G9E	probably damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col3a1	C	T	1: 45,369,305 (GRCm39)	P331S	unknown	Het
Ctsk	T	C	3: 95,413,988 (GRCm39)	I245T	probably benign	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Eci2	A	G	13: 35,174,699 (GRCm39)		probably null	Het
Ecm1	C	T	3: 95,643,254 (GRCm39)	A349T	probably benign	Het
Efemp2	A	G	19: 5,525,190 (GRCm39)	E32G	probably damaging	Het
Flt4	C	A	11: 49,516,131 (GRCm39)	T78K	probably benign	Het
Foxg1	A	G	12: 49,431,708 (GRCm39)		probably benign	Het
Fv1	T	C	4: 147,954,619 (GRCm39)	V395A	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gpha2	T	G	19: 6,277,532 (GRCm39)	V96G	probably damaging	Het
Gse1	A	G	8: 121,293,719 (GRCm39)	Y228C	probably damaging	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Ildr1	A	G	16: 36,542,341 (GRCm39)	E247G	probably damaging	Het
Ktn1	T	A	14: 47,931,345 (GRCm39)	M646K	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,648 (GRCm39)	H2259L	unknown	Het
Map1b	A	T	13: 99,567,629 (GRCm39)	H1697Q	unknown	Het
Mdn1	A	G	4: 32,700,409 (GRCm39)	E1456G	probably damaging	Het
Mta1	C	T	12: 113,095,248 (GRCm39)	T467I	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Ncoa5	C	A	2: 164,854,838 (GRCm39)	D95Y	possibly damaging	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nr3c2	T	C	8: 77,635,156 (GRCm39)	S86P	possibly damaging	Het
Nup153	A	G	13: 46,837,404 (GRCm39)	S1273P	probably benign	Het
Or8g52	G	A	9: 39,631,018 (GRCm39)	R165Q	probably benign	Het
Pcsk5	C	A	19: 17,450,423 (GRCm39)	G1142C	probably damaging	Het
Pgghg	A	G	7: 140,523,453 (GRCm39)	D244G	possibly damaging	Het
Polr1has	T	C	17: 37,276,336 (GRCm39)	V306A	possibly damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Rad52	A	T	6: 119,897,855 (GRCm39)	Q356L	possibly damaging	Het
Rhpn1	T	A	15: 75,585,083 (GRCm39)	F507I	probably damaging	Het
Rhpn2	T	C	7: 35,076,433 (GRCm39)	M328T	probably benign	Het
Rnf19a	T	C	15: 36,254,665 (GRCm39)	I298V	possibly damaging	Het
Rwdd2a	T	C	9: 86,456,184 (GRCm39)	V120A	probably benign	Het
Scml2	G	T	X: 160,014,442 (GRCm39)	E566D	possibly damaging	Het
Serpina3a	G	A	12: 104,082,481 (GRCm39)	A85T	probably damaging	Het
Slc16a11	G	A	11: 70,106,146 (GRCm39)	G80D	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Spg21	T	A	9: 65,391,711 (GRCm39)		probably null	Het
Spopfm2	A	G	3: 94,082,834 (GRCm39)	S326P	probably damaging	Het
Sry	T	C	Y: 2,662,901 (GRCm39)	H253R	unknown	Het
Swt1	A	G	1: 151,279,636 (GRCm39)	S391P	probably damaging	Het
Uhrf2	A	G	19: 30,033,888 (GRCm39)	Y200C	probably damaging	Het
Utp15	T	C	13: 98,391,493 (GRCm39)	H248R	probably damaging	Het
Utp20	A	G	10: 88,603,313 (GRCm39)		probably null	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r56	A	T	7: 5,199,179 (GRCm39)	M146K	probably damaging	Het
Zfp143	A	T	7: 109,685,453 (GRCm39)	K399N	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably 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
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
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'- GGCTACAGGAGACAACCTTCTC -3'
(R):5'- AATTGGTGGTCGAGCAGTAG -3'

Sequencing Primer
(F):5'- AGCTCCTCTTTGGAATCAAATCTAC -3'
(R):5'- ACGTAACAGTCCTTAGAGAACAG -3'

Posted On

2014-09-18