Incidental Mutation 'R4435:Bccip'
| ID |
329484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bccip
|
| Ensembl Gene |
ENSMUSG00000030983 |
| Gene Name |
BRCA2 and CDKN1A interacting protein |
| Synonyms |
1110013J05Rik, TOK-1 |
| MMRRC Submission |
041149-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4435 (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 133320942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 239
(R239G)
|
| 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: R239G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000033282
Gene: ENSMUSG00000030983
AA Change: R239G
| 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: ENSMUST00000136301
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140472
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157077
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151711
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,822,900 (GRCm39) |
S523L |
probably damaging |
Het |
| Arap1 |
C |
A |
7: 101,039,461 (GRCm39) |
R574S |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,439,920 (GRCm39) |
I576V |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,597,981 (GRCm39) |
V1283D |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,232 (GRCm39) |
|
probably null |
Het |
| Asrgl1 |
C |
T |
19: 9,096,563 (GRCm39) |
V125I |
probably damaging |
Het |
| Cdyl |
T |
C |
13: 36,042,233 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
C |
7: 55,549,789 (GRCm39) |
I650T |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,716,312 (GRCm39) |
Q506K |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,320,588 (GRCm39) |
D1313G |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Gm5134 |
T |
G |
10: 75,831,658 (GRCm39) |
S366A |
probably damaging |
Het |
| Gm5849 |
T |
A |
3: 90,685,182 (GRCm39) |
K1M |
probably null |
Het |
| Gpn3 |
A |
G |
5: 122,520,115 (GRCm39) |
D223G |
probably benign |
Het |
| Hk1 |
A |
G |
10: 62,111,623 (GRCm39) |
Y713H |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,476,234 (GRCm39) |
L14P |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,519,875 (GRCm39) |
N2078K |
possibly damaging |
Het |
| Maf |
T |
A |
8: 116,433,592 (GRCm39) |
E4V |
unknown |
Het |
| Mbtd1 |
T |
A |
11: 93,823,048 (GRCm39) |
D489E |
probably benign |
Het |
| Myrip |
C |
T |
9: 120,164,680 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
A |
G |
18: 65,345,896 (GRCm39) |
D816G |
possibly damaging |
Het |
| Nwd1 |
T |
C |
8: 73,414,764 (GRCm39) |
V934A |
possibly damaging |
Het |
| Or2a12 |
T |
A |
6: 42,905,023 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,229 (GRCm39) |
M81V |
probably benign |
Het |
| Psd |
A |
T |
19: 46,302,933 (GRCm39) |
I158N |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,520,916 (GRCm39) |
V752A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Senp2 |
T |
A |
16: 21,832,991 (GRCm39) |
V93E |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Slc38a4 |
T |
C |
15: 96,906,899 (GRCm39) |
S280G |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,661,473 (GRCm39) |
E666G |
possibly damaging |
Het |
| Strip2 |
T |
C |
6: 29,925,049 (GRCm39) |
V129A |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,747,219 (GRCm39) |
E4610G |
probably benign |
Het |
| Uimc1 |
T |
C |
13: 55,223,636 (GRCm39) |
E212G |
probably damaging |
Het |
| Zc3h18 |
T |
C |
8: 123,140,691 (GRCm39) |
|
probably null |
Het |
| Zswim3 |
T |
A |
2: 164,662,563 (GRCm39) |
C348S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTCTTGGATATAGCCAGCAGC -3'
(R):5'- CAGTGTGTTAGCAAGCAGC -3'
Sequencing Primer
(F):5'- TGTGCAGCAGAGTCCAGAC -3'
(R):5'- CAGGCTGGCTTCAACTTAGAGATC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation