Incidental Mutation 'IGL03345:Bccip'
| ID |
417414 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bccip
|
| Ensembl Gene |
ENSMUSG00000030983 |
| Gene Name |
BRCA2 and CDKN1A interacting protein |
| Synonyms |
1110013J05Rik, TOK-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03345
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
133311062-133322874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133311220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 45
(D45G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033276]
[ENSMUST00000033282]
[ENSMUST00000106144]
[ENSMUST00000106145]
[ENSMUST00000106146]
[ENSMUST00000124759]
[ENSMUST00000151348]
|
| AlphaFold |
Q9CWI3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033276
|
| SMART Domains |
Protein: ENSMUSP00000033276
Gene: ENSMUSG00000030979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEM4
|
17 |
253 |
1.2e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033282
AA Change: D45G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: D45G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BCIP
|
58 |
258 |
2.1e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106144
|
| SMART Domains |
Protein: ENSMUSP00000101750
Gene: ENSMUSG00000030979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEM4
|
17 |
168 |
5.1e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106145
|
| SMART Domains |
Protein: ENSMUSP00000101751
Gene: ENSMUSG00000030979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEM4
|
17 |
253 |
2.9e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106146
|
| SMART Domains |
Protein: ENSMUSP00000101752
Gene: ENSMUSG00000030979
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HEM4
|
17 |
253 |
1.2e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151348
|
| 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 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
G |
11: 94,250,163 (GRCm39) |
W987R |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,069,184 (GRCm39) |
V384A |
probably benign |
Het |
| Akap12 |
T |
C |
10: 4,306,697 (GRCm39) |
V1169A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,011,460 (GRCm39) |
T950A |
probably benign |
Het |
| Avil |
T |
C |
10: 126,844,826 (GRCm39) |
|
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,116,508 (GRCm39) |
S729P |
probably benign |
Het |
| C3 |
T |
A |
17: 57,526,585 (GRCm39) |
I799F |
probably damaging |
Het |
| Cstf2 |
C |
T |
X: 132,961,794 (GRCm39) |
R80C |
probably damaging |
Het |
| Degs1l |
A |
T |
1: 180,882,937 (GRCm39) |
H233L |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,873,056 (GRCm39) |
F1130S |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,399,332 (GRCm39) |
V86A |
possibly damaging |
Het |
| Fat2 |
C |
T |
11: 55,173,187 (GRCm39) |
D2509N |
probably damaging |
Het |
| Fut10 |
T |
C |
8: 31,750,069 (GRCm39) |
S452P |
probably damaging |
Het |
| Gabrb1 |
T |
A |
5: 72,293,908 (GRCm39) |
M394K |
possibly damaging |
Het |
| Gkn3 |
T |
A |
6: 87,365,798 (GRCm39) |
E7V |
probably null |
Het |
| Gpld1 |
G |
A |
13: 25,171,007 (GRCm39) |
G803R |
probably damaging |
Het |
| Hipk2 |
A |
G |
6: 38,724,937 (GRCm39) |
|
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,371,321 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
A |
T |
12: 25,053,044 (GRCm39) |
S445C |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,373,154 (GRCm39) |
K266E |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,146,304 (GRCm39) |
D1454V |
probably damaging |
Het |
| Nrf1 |
A |
C |
6: 30,089,947 (GRCm39) |
T9P |
probably damaging |
Het |
| Nt5dc1 |
T |
C |
10: 34,200,458 (GRCm39) |
E187G |
probably benign |
Het |
| Obscn |
T |
A |
11: 58,886,308 (GRCm39) |
|
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,558,142 (GRCm39) |
Y274H |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,568,556 (GRCm39) |
K149R |
probably benign |
Het |
| Rinl |
A |
G |
7: 28,496,222 (GRCm39) |
E401G |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,822,466 (GRCm39) |
R234G |
possibly damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,719,633 (GRCm39) |
D554G |
probably benign |
Het |
| Slc7a2 |
A |
G |
8: 41,369,530 (GRCm39) |
S646G |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,545,206 (GRCm39) |
V231A |
probably benign |
Het |
| Timeless |
T |
G |
10: 128,083,455 (GRCm39) |
S695A |
probably benign |
Het |
| Tmem131l |
G |
A |
3: 83,868,896 (GRCm39) |
P160S |
probably damaging |
Het |
| Tspear |
C |
A |
10: 77,710,716 (GRCm39) |
|
probably null |
Het |
| Ubn1 |
T |
A |
16: 4,899,828 (GRCm39) |
H1113Q |
probably damaging |
Het |
| Vmn2r49 |
T |
G |
7: 9,718,621 (GRCm39) |
K481T |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,213,027 (GRCm39) |
N872S |
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 |
|
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 |
|
R6934:Bccip
|
UTSW |
7 |
133,322,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation