Incidental Mutation 'R9769:Ccnb1'
ID |
733404 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccnb1
|
Ensembl Gene |
ENSMUSG00000041431 |
Gene Name |
cyclin B1 |
Synonyms |
Ccnb1-rs13, Cycb-4 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9769 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
100915247-100922994 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100917393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 322
(Y322C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072119]
[ENSMUST00000075550]
[ENSMUST00000091295]
[ENSMUST00000174038]
|
AlphaFold |
P24860 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072119
AA Change: Y322C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071989 Gene: ENSMUSG00000041431 AA Change: Y322C
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 benign
Transcript: ENSMUST00000075550
|
SMART Domains |
Protein: ENSMUSP00000074988 Gene: ENSMUSG00000045273
Domain | Start | End | E-Value | Type |
coiled coil region
|
63 |
101 |
N/A |
INTRINSIC |
Pfam:CENP-H
|
133 |
233 |
1.3e-27 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000091295
AA Change: Y261C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088841 Gene: ENSMUSG00000041431 AA Change: Y261C
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 |
probably damaging
Transcript: ENSMUST00000174038
AA Change: Y322C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133962 Gene: ENSMUSG00000041431 AA Change: Y322C
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
A |
T |
15: 94,251,459 (GRCm39) |
C443S |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
Atp13a5 |
T |
A |
16: 29,167,513 (GRCm39) |
K146* |
probably null |
Het |
Atxn2l |
A |
T |
7: 126,095,692 (GRCm39) |
I481N |
probably benign |
Het |
Cacna1i |
A |
T |
15: 80,253,793 (GRCm39) |
I677F |
probably damaging |
Het |
Cenpk |
C |
T |
13: 104,381,810 (GRCm39) |
Q245* |
probably null |
Het |
D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
Kel |
C |
T |
6: 41,678,990 (GRCm39) |
G158R |
probably damaging |
Het |
Klhl28 |
A |
G |
12: 64,998,330 (GRCm39) |
V388A |
probably benign |
Het |
Macc1 |
A |
G |
12: 119,407,241 (GRCm39) |
K33E |
probably benign |
Het |
Mup15 |
T |
A |
4: 61,356,528 (GRCm39) |
D79V |
possibly damaging |
Het |
Nbeal2 |
C |
A |
9: 110,455,347 (GRCm39) |
V2549L |
probably benign |
Het |
Ogfod3 |
T |
C |
11: 121,074,357 (GRCm39) |
T231A |
probably damaging |
Het |
Or2t35 |
C |
T |
14: 14,407,929 (GRCm38) |
R234W |
probably damaging |
Het |
Or56b35 |
A |
G |
7: 104,963,933 (GRCm39) |
K241E |
probably damaging |
Het |
Pramel1 |
T |
C |
4: 143,125,110 (GRCm39) |
S345P |
possibly damaging |
Het |
Sdr16c6 |
T |
A |
4: 4,076,893 (GRCm39) |
N2I |
probably benign |
Het |
Slc10a4 |
A |
G |
5: 73,164,423 (GRCm39) |
D5G |
unknown |
Het |
Slc35f3 |
A |
G |
8: 127,121,336 (GRCm39) |
E399G |
probably damaging |
Het |
Trim43b |
G |
A |
9: 88,967,458 (GRCm39) |
H393Y |
possibly damaging |
Het |
Vmn1r88 |
A |
G |
7: 12,912,280 (GRCm39) |
H212R |
probably damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,005,443 (GRCm39) |
Y360C |
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 |
R3108:Ccnb1
|
UTSW |
13 |
100,918,132 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGCTACAGCACTGAGATGG -3'
(R):5'- AATAAGGCTGCTGACCTAACTAC -3'
Sequencing Primer
(F):5'- CTTCCATATTAGGACCCAGGAGAGTG -3'
(R):5'- GGCTGCTGACCTAACTACATATTACG -3'
|
Posted On |
2022-11-14 |