Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Bard1'

632143

Institutional Source

Beutler Lab

Gene Symbol

Bard1

Ensembl Gene

ENSMUSG00000026196

Gene Name

BRCA1 associated RING domain 1

Synonyms

ENSMUSG00000073653, ENSMUSG00000060893

MMRRC Submission

067562-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71066690-71142300 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71106297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 443 (N443K)

Ref Sequence

ENSEMBL: ENSMUSP00000027393 (fasta)

Gene Model

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

AlphaFold

O70445

Predicted Effect

probably damaging
Transcript: ENSMUST00000027393
AA Change: N443K

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

SMART Domains

Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: N443K

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

0.9218

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 80,425,982 (GRCm39)	P265L	probably benign	Het
Adam20	A	G	8: 41,249,101 (GRCm39)	T404A	probably benign	Het
Anp32a	G	T	9: 62,284,863 (GRCm39)	R237L	unknown	Het
Ascc3	A	G	10: 50,643,554 (GRCm39)	D1835G	probably benign	Het
Atg9b	A	G	5: 24,590,220 (GRCm39)		probably null	Het
Btnl1	A	G	17: 34,604,647 (GRCm39)	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,067,711 (GRCm39)	I487F		Het
Cadm4	A	G	7: 24,203,030 (GRCm39)	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,648,075 (GRCm39)	K128E	probably benign	Het
Casz1	C	T	4: 149,027,492 (GRCm39)	P1005S	probably damaging	Het
Cd38	C	A	5: 44,058,790 (GRCm39)	L135M	probably damaging	Het
Cdk20	A	G	13: 64,585,734 (GRCm39)	E244G	probably benign	Het
Cfap54	A	T	10: 92,714,378 (GRCm39)	V2667D	unknown	Het
Col11a1	A	G	3: 114,012,435 (GRCm39)	K1792E	unknown	Het
Cpne9	A	T	6: 113,272,003 (GRCm39)	D377V	probably benign	Het
Csmd1	A	T	8: 15,982,550 (GRCm39)	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,651,391 (GRCm39)	V222A	probably benign	Het
Frmpd2	T	C	14: 33,227,452 (GRCm39)	S277P	probably benign	Het
Herc2	C	T	7: 55,734,884 (GRCm39)	T158I	probably benign	Het
Hoxa4	G	T	6: 52,167,537 (GRCm39)	H215N	possibly damaging	Het
Hpd	G	T	5: 123,312,443 (GRCm39)	Q309K	probably benign	Het
Il20ra	A	G	10: 19,626,452 (GRCm39)	T159A	probably damaging	Het
Ints10	T	A	8: 69,255,638 (GRCm39)	Y209*	probably null	Het
Ints2	A	G	11: 86,103,486 (GRCm39)	I1190T	probably damaging	Het
Jhy	A	G	9: 40,872,188 (GRCm39)	V107A	probably null	Het
Kdm4d	C	T	9: 14,374,532 (GRCm39)	R442H	probably damaging	Het
Kifbp	T	C	10: 62,413,756 (GRCm39)	Y134C	probably benign	Het
Klb	A	T	5: 65,540,958 (GRCm39)	H1017L	probably benign	Het
Kndc1	T	A	7: 139,481,285 (GRCm39)		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,518,660 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,503,047 (GRCm39)	I423M	probably damaging	Het
Magi2	T	G	5: 20,596,365 (GRCm39)	F274L	probably damaging	Het
Magi2	T	A	5: 20,596,392 (GRCm39)	D283E	probably benign	Het
Map3k19	A	C	1: 127,751,492 (GRCm39)	S620A	probably damaging	Het
Meis2	C	T	2: 115,697,369 (GRCm39)	M388I	probably benign	Het
Ms4a3	G	C	19: 11,615,613 (GRCm39)	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,710,585 (GRCm39)	M548K	possibly damaging	Het
Ninl	C	T	2: 150,792,234 (GRCm39)	C763Y	probably benign	Het
Numa1	T	C	7: 101,650,834 (GRCm39)	F1522L	probably benign	Het
Or13a25	T	A	7: 140,247,680 (GRCm39)	I153N	possibly damaging	Het
Or2bd2	T	C	7: 6,441,922 (GRCm39)		probably benign	Het
Pcdhgc3	G	A	18: 37,939,916 (GRCm39)	V106I	probably benign	Het
Phf3	A	G	1: 30,863,552 (GRCm39)	V152A	unknown	Het
Pira1	A	G	7: 3,738,838 (GRCm39)	S590P	probably damaging	Het
Plcg2	A	T	8: 118,284,057 (GRCm39)	D118V	probably damaging	Het
Pnpla1	A	G	17: 29,097,443 (GRCm39)	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,672,888 (GRCm39)	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,814,280 (GRCm39)	E341G	possibly damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rrs1	C	T	1: 9,615,645 (GRCm39)		probably benign	Het
Scaf11	T	C	15: 96,318,592 (GRCm39)	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157 (GRCm39)		probably null	Het
Sun3	G	T	11: 8,979,346 (GRCm39)	D118E	probably benign	Het
Svop	C	T	5: 114,180,992 (GRCm39)	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,045,474 (GRCm39)	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,937,064 (GRCm39)	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,198,381 (GRCm39)	D116E	probably benign	Het
Ube2z	A	G	11: 95,949,200 (GRCm39)	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,462,797 (GRCm39)		probably null	Het
Vps13a	A	G	19: 16,631,718 (GRCm39)	I2639T	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,003,166 (GRCm39)	V92E	probably benign	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
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
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'- TTCCTGTCACAACTGAAAAGCTAG -3'
(R):5'- CATGAGCAGTAGTCGGCATG -3'

Sequencing Primer
(F):5'- TGGTCAAAGCATAAATTCTTCAGAC -3'
(R):5'- CATGAGCAGTAGTCGGCATGTAAAG -3'

Posted On

2020-06-30