Incidental Mutation 'R4117:Bard1'
| ID |
315119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bard1
|
| Ensembl Gene |
ENSMUSG00000026196 |
| Gene Name |
BRCA1 associated RING domain 1 |
| Synonyms |
ENSMUSG00000073653, ENSMUSG00000060893 |
| MMRRC Submission |
040991-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4117 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
71066690-71142300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71085922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 594
(H594Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027393]
|
| AlphaFold |
O70445 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027393
AA Change: H594Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027393
Gene: ENSMUSG00000026196
AA Change: H594Q
| 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 |
0.9298 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
97% (31/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
C |
2: 155,398,313 (GRCm39) |
F358L |
probably damaging |
Het |
| Adamts16 |
A |
G |
13: 70,916,111 (GRCm39) |
Y775H |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cenpt |
G |
A |
8: 106,576,332 (GRCm39) |
S73L |
probably benign |
Het |
| Ctdnep1 |
C |
A |
11: 69,879,497 (GRCm39) |
A7D |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,193,486 (GRCm39) |
S100P |
probably benign |
Het |
| Fyb1 |
A |
C |
15: 6,659,597 (GRCm39) |
D434A |
probably damaging |
Het |
| H2-T15 |
T |
C |
17: 36,368,496 (GRCm39) |
D144G |
probably damaging |
Het |
| Heph |
T |
C |
X: 95,544,221 (GRCm39) |
V615A |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,948,886 (GRCm39) |
V746E |
probably damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,230 (GRCm39) |
Q192R |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,391 (GRCm39) |
Y301C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,217,947 (GRCm39) |
Q1767* |
probably null |
Het |
| Or51f5 |
T |
A |
7: 102,423,684 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,495,908 (GRCm39) |
R982G |
probably benign |
Het |
| Plekhg2 |
A |
T |
7: 28,060,313 (GRCm39) |
H1005Q |
probably benign |
Het |
| Rdh12 |
C |
T |
12: 79,260,419 (GRCm39) |
R172C |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,615 (GRCm39) |
N122Y |
probably benign |
Het |
| Septin4 |
T |
C |
11: 87,459,108 (GRCm39) |
F494S |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,199,579 (GRCm39) |
D291E |
probably benign |
Het |
| She |
A |
T |
3: 89,759,679 (GRCm39) |
Y394F |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,195,249 (GRCm39) |
S830G |
probably damaging |
Het |
| Stmn4 |
T |
C |
14: 66,598,581 (GRCm39) |
*217Q |
probably null |
Het |
| Stx17 |
A |
G |
4: 48,180,689 (GRCm39) |
D178G |
probably damaging |
Het |
| Tbc1d9 |
T |
G |
8: 83,992,776 (GRCm39) |
I960S |
possibly damaging |
Het |
| Ubxn10 |
G |
T |
4: 138,448,276 (GRCm39) |
D133E |
probably benign |
Het |
| Vmn2r42 |
T |
C |
7: 8,197,839 (GRCm39) |
Y260C |
probably damaging |
Het |
| Vmn2r7 |
A |
C |
3: 64,623,138 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
C |
T |
7: 109,691,120 (GRCm39) |
T557I |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,398,107 (GRCm39) |
I64V |
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 |
|
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 |
|
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'- CTGAAAGGCACCAATGATACATGAATC -3'
(R):5'- GCACTGTCAGAAGAACAGATTTTC -3'
Sequencing Primer
(F):5'- TCTTTCAAAACGGTGACTAACTCC -3'
(R):5'- CATTACAGATGGTTGTGAGCCACC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation