Incidental Mutation 'R3108:Ccnb1'
ID |
263679 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccnb1
|
Ensembl Gene |
ENSMUSG00000041431 |
Gene Name |
cyclin B1 |
Synonyms |
Ccnb1-rs13, Cycb-4 |
MMRRC Submission |
040582-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3108 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
100915247-100922994 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 100918132 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133962
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072119]
[ENSMUST00000091295]
[ENSMUST00000174038]
[ENSMUST00000174038]
|
AlphaFold |
P24860 |
Predicted Effect |
probably null
Transcript: ENSMUST00000072119
|
SMART Domains |
Protein: ENSMUSP00000071989 Gene: ENSMUSG00000041431
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
110 |
N/A |
INTRINSIC |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
CYCLIN
|
204 |
288 |
3.88e-26 |
SMART |
Cyclin_C
|
297 |
415 |
4.18e-37 |
SMART |
CYCLIN
|
301 |
382 |
3.65e-22 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000091295
|
SMART Domains |
Protein: ENSMUSP00000088841 Gene: ENSMUSG00000041431
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
110 |
N/A |
INTRINSIC |
CYCLIN
|
143 |
227 |
3.88e-26 |
SMART |
Cyclin_C
|
236 |
354 |
4.18e-37 |
SMART |
CYCLIN
|
240 |
321 |
3.65e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128279
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134080
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147790
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174038
|
SMART Domains |
Protein: ENSMUSP00000133962 Gene: ENSMUSG00000041431
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
110 |
N/A |
INTRINSIC |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
CYCLIN
|
204 |
288 |
3.88e-26 |
SMART |
Cyclin_C
|
297 |
378 |
3.18e-10 |
SMART |
CYCLIN
|
301 |
384 |
8.4e-13 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000174038
|
SMART Domains |
Protein: ENSMUSP00000133962 Gene: ENSMUSG00000041431
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
110 |
N/A |
INTRINSIC |
low complexity region
|
149 |
160 |
N/A |
INTRINSIC |
CYCLIN
|
204 |
288 |
3.88e-26 |
SMART |
Cyclin_C
|
297 |
378 |
3.18e-10 |
SMART |
CYCLIN
|
301 |
384 |
8.4e-13 |
SMART |
|
Meta Mutation Damage Score |
0.9600 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (32/32) |
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd2 |
C |
T |
7: 78,973,333 (GRCm39) |
S104L |
probably benign |
Het |
Adcy1 |
A |
G |
11: 7,119,453 (GRCm39) |
Y1032C |
probably damaging |
Het |
Ap4e1 |
T |
C |
2: 126,898,226 (GRCm39) |
|
probably null |
Het |
Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
Cnot1 |
A |
G |
8: 96,462,377 (GRCm39) |
V1691A |
probably damaging |
Het |
Dclk2 |
G |
A |
3: 86,827,342 (GRCm39) |
P46S |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,819,669 (GRCm39) |
K1760R |
probably benign |
Het |
Drd4 |
T |
A |
7: 140,872,195 (GRCm39) |
V82E |
possibly damaging |
Het |
Dtx2 |
G |
A |
5: 136,050,670 (GRCm39) |
V323M |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,498,210 (GRCm39) |
|
probably null |
Het |
Igkv11-125 |
T |
C |
6: 67,890,855 (GRCm39) |
F58L |
possibly damaging |
Het |
Mrgprb1 |
A |
G |
7: 48,097,076 (GRCm39) |
S279P |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,412,496 (GRCm39) |
T1814M |
unknown |
Het |
Nkpd1 |
G |
A |
7: 19,256,903 (GRCm39) |
M227I |
probably damaging |
Het |
Ntrk3 |
C |
T |
7: 78,110,263 (GRCm39) |
V324M |
probably benign |
Het |
Nup155 |
C |
A |
15: 8,146,790 (GRCm39) |
T210K |
probably null |
Het |
Or52s1b |
T |
A |
7: 102,822,293 (GRCm39) |
M184L |
probably damaging |
Het |
Or9s18 |
T |
C |
13: 65,300,875 (GRCm39) |
V279A |
possibly damaging |
Het |
Pak4 |
A |
T |
7: 28,263,769 (GRCm39) |
Y322* |
probably null |
Het |
Raph1 |
G |
A |
1: 60,532,545 (GRCm39) |
A696V |
probably benign |
Het |
Satb1 |
A |
T |
17: 52,089,810 (GRCm39) |
Y346N |
possibly damaging |
Het |
Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
Slc34a3 |
G |
T |
2: 25,119,257 (GRCm39) |
Q538K |
probably benign |
Het |
Slf1 |
C |
T |
13: 77,274,840 (GRCm39) |
|
probably benign |
Het |
Ston1 |
G |
T |
17: 88,943,583 (GRCm39) |
E330* |
probably null |
Het |
Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
Unc45a |
A |
G |
7: 79,981,294 (GRCm39) |
|
probably benign |
Het |
Zfp169 |
A |
G |
13: 48,643,472 (GRCm39) |
S552P |
possibly damaging |
Het |
Zfp229 |
T |
A |
17: 21,965,797 (GRCm39) |
C676S |
probably damaging |
Het |
|
Other mutations in Ccnb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00897:Ccnb1
|
APN |
13 |
100,922,419 (GRCm39) |
splice site |
probably benign |
|
IGL01775:Ccnb1
|
APN |
13 |
100,920,017 (GRCm39) |
missense |
probably benign |
0.36 |
IGL01874:Ccnb1
|
APN |
13 |
100,920,001 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02108:Ccnb1
|
APN |
13 |
100,917,665 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02170:Ccnb1
|
APN |
13 |
100,919,994 (GRCm39) |
nonsense |
probably null |
|
IGL02372:Ccnb1
|
APN |
13 |
100,917,824 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02755:Ccnb1
|
APN |
13 |
100,918,168 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL03142:Ccnb1
|
APN |
13 |
100,920,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Ccnb1
|
UTSW |
13 |
100,916,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Ccnb1
|
UTSW |
13 |
100,916,642 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2249:Ccnb1
|
UTSW |
13 |
100,917,827 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4934:Ccnb1
|
UTSW |
13 |
100,918,209 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5126:Ccnb1
|
UTSW |
13 |
100,918,283 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5127:Ccnb1
|
UTSW |
13 |
100,918,283 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5180:Ccnb1
|
UTSW |
13 |
100,918,283 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5181:Ccnb1
|
UTSW |
13 |
100,918,283 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5325:Ccnb1
|
UTSW |
13 |
100,918,283 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7024:Ccnb1
|
UTSW |
13 |
100,922,888 (GRCm39) |
critical splice donor site |
probably null |
|
R7583:Ccnb1
|
UTSW |
13 |
100,916,262 (GRCm39) |
missense |
probably benign |
0.06 |
R7632:Ccnb1
|
UTSW |
13 |
100,918,209 (GRCm39) |
missense |
probably benign |
0.32 |
R7833:Ccnb1
|
UTSW |
13 |
100,917,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R9634:Ccnb1
|
UTSW |
13 |
100,920,112 (GRCm39) |
missense |
probably benign |
0.01 |
R9769:Ccnb1
|
UTSW |
13 |
100,917,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTACCTCCCAAGAAAGGATTCAG -3'
(R):5'- GGTCTTTATGGACACCGATGG -3'
Sequencing Primer
(F):5'- CTCCCAAGAAAGGATTCAGTTTCAGG -3'
(R):5'- CTTTATGGACACCGATGGTAGATG -3'
|
Posted On |
2015-02-05 |