Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:Bard1'

298174

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 #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

71066690-71142300 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 71104815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027393 (fasta)

Gene Model

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

AlphaFold

O70445

Predicted Effect

probably benign
Transcript: ENSMUST00000027393

SMART Domains

Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,208,145 (GRCm39)	L178S	probably damaging	Het
Abca12	A	G	1: 71,333,906 (GRCm39)	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,551,645 (GRCm39)	D1221G	possibly damaging	Het
Apc	T	A	18: 34,446,035 (GRCm39)	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,235,324 (GRCm39)	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,388,721 (GRCm39)	W552R	probably benign	Het
Astn1	C	T	1: 158,332,965 (GRCm39)	S349F	possibly damaging	Het
Batf2	T	A	19: 6,221,537 (GRCm39)	Y116N	probably benign	Het
Bltp3b	T	A	10: 89,642,605 (GRCm39)	L10*	probably null	Het
Cbx6	T	C	15: 79,713,094 (GRCm39)	H111R	probably damaging	Het
Cd44	T	A	2: 102,679,076 (GRCm39)	N242I	probably benign	Het
Cdnf	C	T	2: 3,525,012 (GRCm39)	Q184*	probably null	Het
Chd2	C	A	7: 73,097,068 (GRCm39)		probably benign	Het
Cmtm6	G	A	9: 114,566,374 (GRCm39)	V88M	probably damaging	Het
Col24a1	C	A	3: 145,179,962 (GRCm39)	S1151R	possibly damaging	Het
Csta2	A	G	16: 36,073,459 (GRCm39)	E15G	probably damaging	Het
Degs1l	T	A	1: 180,882,463 (GRCm39)	V75E	possibly damaging	Het
Dnajc2	T	C	5: 21,988,061 (GRCm39)	D6G	probably damaging	Het
Eif3a	G	A	19: 60,751,664 (GRCm39)		probably benign	Het
Fbn1	C	A	2: 125,254,633 (GRCm39)	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,523,286 (GRCm39)	D1380E	probably damaging	Het
Fry	A	T	5: 150,304,375 (GRCm39)	K588N	probably damaging	Het
Gm18856	G	A	13: 14,139,805 (GRCm39)		probably benign	Het
Gpr37	G	T	6: 25,688,686 (GRCm39)	T137K	probably benign	Het
Gzmc	T	C	14: 56,472,039 (GRCm39)	M1V	probably null	Het
Htr5a	T	C	5: 28,047,958 (GRCm39)	V171A	probably benign	Het
Ints6l	T	C	X: 55,500,557 (GRCm39)		probably benign	Het
Kcnma1	C	T	14: 23,436,327 (GRCm39)		probably null	Het
Krt35	C	T	11: 99,983,899 (GRCm39)	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,063,057 (GRCm39)	V668I	possibly damaging	Het
Nlrp1b	C	T	11: 71,072,878 (GRCm39)	V322I	possibly damaging	Het
Ntf3	T	C	6: 126,078,823 (GRCm39)	N228D	probably damaging	Het
Nup133	G	A	8: 124,655,994 (GRCm39)	R496W	possibly damaging	Het
Or4c10	T	C	2: 89,760,903 (GRCm39)	V250A	probably benign	Het
Or51i1	C	A	7: 103,671,463 (GRCm39)	G21W	probably damaging	Het
Pah	C	T	10: 87,414,707 (GRCm39)		probably benign	Het
Pan2	G	T	10: 128,154,896 (GRCm39)	W1112L	probably damaging	Het
Pkn3	G	A	2: 29,970,879 (GRCm39)	R209Q	probably damaging	Het
Plaa	C	T	4: 94,470,717 (GRCm39)		probably null	Het
Qprt	C	T	7: 126,708,027 (GRCm39)	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,582,204 (GRCm39)	S108A	probably damaging	Het
Smg1	T	A	7: 117,795,117 (GRCm39)		probably benign	Het
Spink5	T	A	18: 44,125,235 (GRCm39)	C368S	possibly damaging	Het
Sptan1	T	A	2: 29,908,486 (GRCm39)	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,669,031 (GRCm39)	L170F	probably damaging	Het
Tesmin	C	T	19: 3,452,483 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,949,530 (GRCm39)	C1697*	probably null	Het
Tmco4	T	C	4: 138,785,690 (GRCm39)	S587P	probably benign	Het
Tmem208	G	A	8: 106,055,329 (GRCm39)		probably null	Het
Trim30d	T	C	7: 104,121,623 (GRCm39)	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,682,699 (GRCm39)	D390V	probably damaging	Het
Uba7	A	G	9: 107,858,589 (GRCm39)	I807V	probably benign	Het
Utp18	C	A	11: 93,759,160 (GRCm39)	C438F	probably damaging	Het
Vps13d	T	C	4: 144,899,707 (GRCm39)	K191E	possibly damaging	Het
Wdr27	A	G	17: 15,146,453 (GRCm39)	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613 (GRCm39)	Y860H	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
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
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

2015-04-16