Incidental Mutation 'R6934:Bccip'
| ID |
540201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bccip
|
| Ensembl Gene |
ENSMUSG00000030983 |
| Gene Name |
BRCA2 and CDKN1A interacting protein |
| Synonyms |
1110013J05Rik, TOK-1 |
| MMRRC Submission |
045049-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133311062-133322874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133322520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 289
(M289V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033282]
[ENSMUST00000033290]
[ENSMUST00000063669]
[ENSMUST00000106139]
|
| AlphaFold |
Q9CWI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033282
AA Change: M289V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: M289V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCIP
|
58 |
258 |
2.1e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033290
|
| SMART Domains |
Protein: ENSMUSP00000033290
Gene: ENSMUSG00000030986
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
67 |
253 |
1e-107 |
BLAST |
|
SCOP:d1jpna2
|
77 |
289 |
9e-21 |
SMART |
|
HA2
|
465 |
556 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
597 |
704 |
1.7e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063669
|
| SMART Domains |
Protein: ENSMUSP00000066067
Gene: ENSMUSG00000030986
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
67 |
253 |
1e-107 |
BLAST |
|
SCOP:d1jpna2
|
77 |
289 |
9e-21 |
SMART |
|
HA2
|
465 |
556 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
594 |
704 |
4.6e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106139
|
| SMART Domains |
Protein: ENSMUSP00000101745
Gene: ENSMUSG00000030986
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
1 |
113 |
5e-54 |
BLAST |
|
SCOP:d1jpna2
|
1 |
149 |
6e-11 |
SMART |
|
HA2
|
325 |
416 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
457 |
564 |
1.2e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product was isolated on the basis of its interaction with BRCA2 and p21 proteins. It is an evolutionarily conserved nuclear protein with multiple interacting domains. The N-terminal half shares moderate homology with regions of calmodulin and M-calpain, suggesting that it may also bind calcium. Functional studies indicate that this protein may be an important cofactor for BRCA2 in tumor suppression, and a modulator of CDK2 kinase activity via p21. This protein has also been implicated in the regulation of BRCA2 and RAD51 nuclear focus formation, double-strand break-induced homologous recombination, and cell cycle progression. Multiple transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018B08Rik |
T |
A |
8: 122,266,712 (GRCm39) |
Y58F |
probably benign |
Het |
| Asap2 |
T |
C |
12: 21,218,251 (GRCm39) |
V58A |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,798,819 (GRCm39) |
I334N |
probably benign |
Het |
| Copa |
T |
A |
1: 171,938,253 (GRCm39) |
I513N |
possibly damaging |
Het |
| Cspg4b |
T |
C |
13: 113,505,800 (GRCm39) |
S2310P |
probably benign |
Het |
| Ctif |
G |
A |
18: 75,568,431 (GRCm39) |
T569M |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,691,225 (GRCm39) |
M231K |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,653,824 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,252 (GRCm39) |
I424V |
probably damaging |
Het |
| Foxred2 |
G |
T |
15: 77,836,530 (GRCm39) |
C328* |
probably null |
Het |
| Gemin5 |
A |
T |
11: 58,038,738 (GRCm39) |
H590Q |
probably damaging |
Het |
| Gm5475 |
T |
C |
15: 100,325,007 (GRCm39) |
|
probably benign |
Het |
| Gmip |
A |
G |
8: 70,273,576 (GRCm39) |
T956A |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,281 (GRCm39) |
D106E |
probably benign |
Het |
| Irs2 |
A |
T |
8: 11,054,697 (GRCm39) |
I1245N |
probably damaging |
Het |
| Kcnk1 |
A |
G |
8: 126,752,129 (GRCm39) |
Y245C |
probably damaging |
Het |
| Krtap4-9 |
A |
T |
11: 99,676,708 (GRCm39) |
R210* |
probably null |
Het |
| Lama1 |
A |
G |
17: 68,081,538 (GRCm39) |
D1325G |
probably benign |
Het |
| Lyz3 |
C |
T |
10: 117,074,413 (GRCm39) |
D25N |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,793,121 (GRCm39) |
V361E |
probably damaging |
Het |
| Mrgprx2 |
A |
G |
7: 48,131,813 (GRCm39) |
I92T |
possibly damaging |
Het |
| Nup214 |
A |
T |
2: 31,872,683 (GRCm39) |
R242* |
probably null |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or13a24 |
T |
G |
7: 140,154,564 (GRCm39) |
L166R |
probably damaging |
Het |
| Or5p60 |
A |
G |
7: 107,724,026 (GRCm39) |
V148A |
probably benign |
Het |
| Or8b1c |
T |
G |
9: 38,384,472 (GRCm39) |
I143S |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,539,523 (GRCm39) |
K39E |
probably benign |
Het |
| Ppl |
C |
T |
16: 4,912,373 (GRCm39) |
G736D |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,181,895 (GRCm39) |
E471G |
possibly damaging |
Het |
| Prrc2c |
G |
A |
1: 162,548,074 (GRCm39) |
P161S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
| Saal1 |
A |
G |
7: 46,352,088 (GRCm39) |
C144R |
probably benign |
Het |
| Slc29a4 |
G |
A |
5: 142,698,713 (GRCm39) |
V125I |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,305,541 (GRCm39) |
T322A |
probably benign |
Het |
| Srgap2 |
A |
T |
1: 131,244,969 (GRCm39) |
M591K |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,176 (GRCm39) |
I1478V |
probably benign |
Het |
| Tet2 |
A |
G |
3: 133,188,998 (GRCm39) |
|
probably null |
Het |
| Tmem150c |
C |
T |
5: 100,243,465 (GRCm39) |
|
probably null |
Het |
| Tmem39b |
T |
A |
4: 129,572,366 (GRCm39) |
H412L |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,635 (GRCm39) |
H389Q |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,202,158 (GRCm39) |
I1595T |
probably damaging |
Het |
| Vmn2r-ps117 |
T |
G |
17: 19,044,967 (GRCm39) |
Y461* |
probably null |
Het |
| Vps13a |
T |
C |
19: 16,653,558 (GRCm39) |
H1941R |
probably damaging |
Het |
|
| Other mutations in Bccip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02347:Bccip
|
APN |
7 |
133,311,105 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL03345:Bccip
|
APN |
7 |
133,311,220 (GRCm39) |
missense |
probably benign |
|
|
G1Funyon:Bccip
|
UTSW |
7 |
133,320,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0071:Bccip
|
UTSW |
7 |
133,315,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Bccip
|
UTSW |
7 |
133,315,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Bccip
|
UTSW |
7 |
133,320,859 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2171:Bccip
|
UTSW |
7 |
133,320,843 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4435:Bccip
|
UTSW |
7 |
133,320,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4626:Bccip
|
UTSW |
7 |
133,322,457 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4648:Bccip
|
UTSW |
7 |
133,316,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5055:Bccip
|
UTSW |
7 |
133,316,652 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5658:Bccip
|
UTSW |
7 |
133,319,349 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5986:Bccip
|
UTSW |
7 |
133,322,594 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6328:Bccip
|
UTSW |
7 |
133,319,503 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6818:Bccip
|
UTSW |
7 |
133,319,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8301:Bccip
|
UTSW |
7 |
133,320,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8427:Bccip
|
UTSW |
7 |
133,311,220 (GRCm39) |
missense |
probably benign |
|
|
R9025:Bccip
|
UTSW |
7 |
133,319,346 (GRCm39) |
nonsense |
probably null |
|
|
R9221:Bccip
|
UTSW |
7 |
133,311,249 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9572:Bccip
|
UTSW |
7 |
133,322,478 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTCTGAACTTACTTTATTCTGAG -3'
(R):5'- TGTCACAGACACATGGAACAG -3'
Sequencing Primer
(F):5'- TGAACTTACTTTATTCTGAGTGTTCC -3'
(R):5'- GGAACAGAACCCTACTTTTTGTAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation