Incidental Mutation 'R9442:Ccndbp1'
| ID |
713675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccndbp1
|
| Ensembl Gene |
ENSMUSG00000023572 |
| Gene Name |
cyclin D-type binding-protein 1 |
| Synonyms |
SSEC-8, GCIP, Maid, stage specific embryonic cDNA-8, DIP1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R9442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
120838884-120847385 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120839013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 8
(V8A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060455]
[ENSMUST00000067582]
[ENSMUST00000099488]
[ENSMUST00000099489]
[ENSMUST00000110686]
[ENSMUST00000139428]
[ENSMUST00000171260]
|
| AlphaFold |
Q3TVC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060455
AA Change: V8A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062496
Gene: ENSMUSG00000023572
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
50 |
318 |
4.2e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067582
|
| SMART Domains |
Protein: ENSMUSP00000064310
Gene: ENSMUSG00000054484
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
56 |
261 |
7.3e-11 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
transmembrane domain
|
479 |
501 |
N/A |
INTRINSIC |
|
transmembrane domain
|
530 |
552 |
N/A |
INTRINSIC |
|
transmembrane domain
|
573 |
595 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099488
AA Change: V8A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000097087
Gene: ENSMUSG00000023572
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
50 |
311 |
4.8e-90 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099489
|
| SMART Domains |
Protein: ENSMUSP00000097088
Gene: ENSMUSG00000023572
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
3 |
271 |
3.7e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110686
|
| SMART Domains |
Protein: ENSMUSP00000106314
Gene: ENSMUSG00000054484
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
300 |
322 |
N/A |
INTRINSIC |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
transmembrane domain
|
400 |
422 |
N/A |
INTRINSIC |
|
transmembrane domain
|
443 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139428
|
| SMART Domains |
Protein: ENSMUSP00000118808
Gene: ENSMUSG00000054484
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
SCOP:d1utea_
|
59 |
274 |
9e-9 |
SMART |
|
low complexity region
|
308 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171260
AA Change: V8A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125961
Gene: ENSMUSG00000023572
AA Change: V8A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GCIP
|
52 |
309 |
4.7e-74 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by the interaction of its gene product with Grap2, a leukocyte-specific adaptor protein important for immune cell signaling. The protein encoded by this gene was shown to interact with cyclin D. Transfection of this gene in cells was reported to reduce the phosphorylation of Rb gene product by cyclin D-dependent protein kinase, and inhibit E2F1-mediated transcription activity. This protein was also found to interact with helix-loop-helix protein E12 and is thought to be a negative regulator of liver-specific gene expression. Several alternatively spliced variants have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a delay in G1/S-phase progression of hepatocytes after partial hepatectomy and develop hepatocellular carcinomas at an advanced age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,347,580 (GRCm39) |
K241N |
possibly damaging |
Het |
| Adam5 |
A |
T |
8: 25,296,510 (GRCm39) |
S312R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,196,447 (GRCm39) |
E749G |
possibly damaging |
Het |
| Catspere2 |
C |
A |
1: 177,931,275 (GRCm39) |
T398K |
unknown |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cenpt |
T |
C |
8: 106,575,418 (GRCm39) |
D228G |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
A |
4: 115,468,422 (GRCm39) |
N301K |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,025,850 (GRCm39) |
T531A |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 131,962,156 (GRCm39) |
C168S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,357,132 (GRCm39) |
R210H |
possibly damaging |
Het |
| Ighv1-7 |
T |
G |
12: 114,502,198 (GRCm39) |
T90P |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 33,916,249 (GRCm39) |
M1R |
probably null |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,622,865 (GRCm39) |
D38G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,283,964 (GRCm39) |
N63S |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,392,814 (GRCm39) |
L152Q |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 13,023,048 (GRCm39) |
D78G |
possibly damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,449,851 (GRCm39) |
V81A |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,785,660 (GRCm39) |
T33A |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,566,624 (GRCm39) |
Q1965L |
unknown |
Het |
| Nfatc2 |
A |
C |
2: 168,328,898 (GRCm39) |
|
probably benign |
Het |
| Nlrp9b |
C |
T |
7: 19,779,707 (GRCm39) |
T790I |
possibly damaging |
Het |
| Nol4 |
A |
T |
18: 22,902,899 (GRCm39) |
C371S |
probably damaging |
Het |
| Ntn1 |
A |
C |
11: 68,148,485 (GRCm39) |
|
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,633 (GRCm39) |
S204P |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,469,357 (GRCm39) |
V727A |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,484,888 (GRCm39) |
Q318* |
probably null |
Het |
| Psg18 |
A |
T |
7: 18,083,185 (GRCm39) |
Y323* |
probably null |
Het |
| Ptk2b |
T |
C |
14: 66,409,189 (GRCm39) |
Y529C |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,108,598 (GRCm39) |
Y374C |
probably damaging |
Het |
| Selp |
T |
A |
1: 163,964,765 (GRCm39) |
F476I |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,478,957 (GRCm39) |
|
probably null |
Het |
| Setdb2 |
T |
G |
14: 59,639,849 (GRCm39) |
T665P |
probably damaging |
Het |
| Sorbs3 |
T |
C |
14: 70,424,387 (GRCm39) |
Y515C |
probably damaging |
Het |
| St13 |
G |
A |
15: 81,272,575 (GRCm39) |
P90S |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,836,306 (GRCm39) |
I1197N |
probably damaging |
Het |
| Svs3a |
A |
G |
2: 164,132,179 (GRCm39) |
Y250C |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,577,428 (GRCm39) |
I556V |
probably benign |
Het |
| Vmn1r180 |
A |
G |
7: 23,651,620 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,342,235 (GRCm39) |
L1492* |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,379 (GRCm39) |
V193A |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,739,337 (GRCm39) |
V976A |
probably benign |
Het |
|
| Other mutations in Ccndbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02305:Ccndbp1
|
APN |
2 |
120,841,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0141:Ccndbp1
|
UTSW |
2 |
120,842,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3774:Ccndbp1
|
UTSW |
2 |
120,839,581 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4490:Ccndbp1
|
UTSW |
2 |
120,842,876 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4695:Ccndbp1
|
UTSW |
2 |
120,845,208 (GRCm39) |
unclassified |
probably benign |
|
|
R4783:Ccndbp1
|
UTSW |
2 |
120,839,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Ccndbp1
|
UTSW |
2 |
120,839,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Ccndbp1
|
UTSW |
2 |
120,839,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4878:Ccndbp1
|
UTSW |
2 |
120,845,172 (GRCm39) |
nonsense |
probably null |
|
|
R5637:Ccndbp1
|
UTSW |
2 |
120,842,165 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5687:Ccndbp1
|
UTSW |
2 |
120,845,183 (GRCm39) |
unclassified |
probably benign |
|
|
R6363:Ccndbp1
|
UTSW |
2 |
120,843,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Ccndbp1
|
UTSW |
2 |
120,840,347 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7192:Ccndbp1
|
UTSW |
2 |
120,843,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Ccndbp1
|
UTSW |
2 |
120,846,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8071:Ccndbp1
|
UTSW |
2 |
120,845,046 (GRCm39) |
missense |
unknown |
|
|
R8283:Ccndbp1
|
UTSW |
2 |
120,839,065 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTCTAGATCTGCGGGG -3'
(R):5'- AACGGCAGACACTCACTGAG -3'
Sequencing Primer
(F):5'- TAGATCTGCGGGGAGGGC -3'
(R):5'- GGCAGACACTCACTGAGTCTTC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation