Incidental Mutation 'R5658:Bccip'
| ID |
443929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bccip
|
| Ensembl Gene |
ENSMUSG00000030983 |
| Gene Name |
BRCA2 and CDKN1A interacting protein |
| Synonyms |
1110013J05Rik, TOK-1 |
| MMRRC Submission |
043172-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5658 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
133311062-133322874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 133319349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 147
(I147V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033282
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033282]
[ENSMUST00000033290]
[ENSMUST00000063669]
[ENSMUST00000106139]
|
| AlphaFold |
Q9CWI3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033282
AA Change: I147V
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: I147V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132885
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151711
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,644 (GRCm39) |
L221P |
probably damaging |
Het |
| Art2b |
A |
G |
7: 101,229,569 (GRCm39) |
V110A |
probably damaging |
Het |
| Bcl9l |
G |
T |
9: 44,420,466 (GRCm39) |
G1254W |
probably damaging |
Het |
| Cep68 |
C |
T |
11: 20,191,885 (GRCm39) |
|
probably null |
Het |
| Chst5 |
A |
G |
8: 112,617,422 (GRCm39) |
V66A |
probably damaging |
Het |
| F5 |
C |
A |
1: 164,019,907 (GRCm39) |
T794K |
probably damaging |
Het |
| Faf2 |
T |
C |
13: 54,789,347 (GRCm39) |
V55A |
probably benign |
Het |
| Gm7535 |
T |
A |
17: 18,131,582 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,326,852 (GRCm39) |
V1471A |
possibly damaging |
Het |
| Kbtbd4 |
T |
A |
2: 90,736,423 (GRCm39) |
S145T |
probably benign |
Het |
| Kcnh3 |
C |
T |
15: 99,139,957 (GRCm39) |
P948S |
possibly damaging |
Het |
| Kcnq1 |
G |
A |
7: 142,917,432 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,815,770 (GRCm39) |
|
probably null |
Het |
| Krt9 |
A |
G |
11: 100,081,593 (GRCm39) |
I312T |
probably damaging |
Het |
| Lactb2 |
T |
A |
1: 13,697,642 (GRCm39) |
H254L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,850,069 (GRCm39) |
Y187* |
probably null |
Het |
| Ldc1 |
A |
G |
4: 130,114,234 (GRCm39) |
V61A |
probably benign |
Het |
| Maf1 |
T |
C |
15: 76,237,420 (GRCm39) |
V154A |
possibly damaging |
Het |
| Mlh1 |
A |
G |
9: 111,076,448 (GRCm39) |
V303A |
probably damaging |
Het |
| Mrgprh |
A |
T |
17: 13,096,646 (GRCm39) |
K295N |
possibly damaging |
Het |
| Mtrr |
G |
T |
13: 68,717,034 (GRCm39) |
A393D |
possibly damaging |
Het |
| Myef2l |
C |
T |
3: 10,153,837 (GRCm39) |
S202F |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,353,663 (GRCm39) |
Y963H |
probably damaging |
Het |
| Ormdl1 |
T |
C |
1: 53,348,093 (GRCm39) |
V145A |
probably damaging |
Het |
| Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
| Pmpcb |
A |
G |
5: 21,943,999 (GRCm39) |
T78A |
probably damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,016,188 (GRCm39) |
R1677Q |
probably damaging |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,790,514 (GRCm39) |
|
probably null |
Het |
| Sh3bp2 |
T |
A |
5: 34,714,291 (GRCm39) |
I162N |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 119,996,218 (GRCm39) |
A960T |
probably benign |
Het |
| Sntb1 |
C |
T |
15: 55,655,472 (GRCm39) |
C248Y |
probably damaging |
Het |
| Sowahc |
G |
A |
10: 59,059,049 (GRCm39) |
R395H |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,869 (GRCm39) |
R416G |
probably benign |
Het |
| Tnfaip6 |
A |
T |
2: 51,941,047 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
| Try5 |
T |
C |
6: 41,289,361 (GRCm39) |
R72G |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,219,838 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCCACCTTCAGTTTTC -3'
(R):5'- GCTGGATGCTGGAAATGAGC -3'
Sequencing Primer
(F):5'- AGGCCACCTTCAGTTTTCAAAGG -3'
(R):5'- CTTGGTTTGTAAAAAGCAACCGGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation