Incidental Mutation 'IGL03142:Ccnb1'
ID |
410723 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccnb1
|
Ensembl Gene |
ENSMUSG00000041431 |
Gene Name |
cyclin B1 |
Synonyms |
Ccnb1-rs13, Cycb-4 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03142
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
100915247-100922994 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 100920039 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 157
(D157E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133962
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072119]
[ENSMUST00000091295]
[ENSMUST00000174038]
|
AlphaFold |
P24860 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072119
AA Change: D157E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000071989 Gene: ENSMUSG00000041431 AA Change: D157E
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: 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 damaging
Transcript: ENSMUST00000174038
AA Change: D157E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000133962 Gene: ENSMUSG00000041431 AA Change: D157E
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 |
|
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccdc88c |
T |
C |
12: 100,913,457 (GRCm39) |
S523G |
probably damaging |
Het |
Cep43 |
T |
A |
17: 8,411,041 (GRCm39) |
S331R |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,447,283 (GRCm39) |
T1055A |
probably damaging |
Het |
Fn1 |
C |
A |
1: 71,676,455 (GRCm39) |
R592L |
probably damaging |
Het |
Frmpd4 |
T |
A |
X: 166,262,479 (GRCm39) |
D550V |
possibly damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,711 (GRCm39) |
V346A |
probably benign |
Het |
Gm10112 |
C |
T |
X: 110,209,673 (GRCm39) |
T4I |
probably damaging |
Het |
Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
Has2 |
A |
T |
15: 56,545,491 (GRCm39) |
I37N |
possibly damaging |
Het |
Hmgn3 |
A |
G |
9: 83,028,482 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
T |
A |
12: 5,187,603 (GRCm39) |
N254Y |
probably damaging |
Het |
Kti12 |
A |
G |
4: 108,705,362 (GRCm39) |
Y92C |
probably damaging |
Het |
Lyset |
G |
A |
12: 102,710,933 (GRCm39) |
S52N |
probably damaging |
Het |
Mgat5 |
A |
C |
1: 127,339,960 (GRCm39) |
Q447P |
probably damaging |
Het |
Mlh3 |
C |
A |
12: 85,297,075 (GRCm39) |
|
probably null |
Het |
Mrpl45 |
T |
C |
11: 97,206,751 (GRCm39) |
W18R |
probably benign |
Het |
Mtor |
A |
G |
4: 148,538,356 (GRCm39) |
D138G |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,536,212 (GRCm39) |
C246Y |
probably damaging |
Het |
Mylk4 |
A |
T |
13: 32,904,582 (GRCm39) |
V415E |
probably damaging |
Het |
Olfm3 |
A |
T |
3: 114,890,679 (GRCm39) |
Q124L |
probably damaging |
Het |
Or4d11 |
A |
T |
19: 12,013,752 (GRCm39) |
M118K |
probably damaging |
Het |
Pam |
C |
T |
1: 97,822,111 (GRCm39) |
G298R |
probably damaging |
Het |
Pappa2 |
A |
C |
1: 158,682,501 (GRCm39) |
I849R |
probably damaging |
Het |
Pde3a |
T |
A |
6: 141,438,025 (GRCm39) |
D1031E |
probably benign |
Het |
Pik3cb |
A |
T |
9: 98,947,615 (GRCm39) |
S521T |
probably benign |
Het |
Pkn1 |
A |
G |
8: 84,397,652 (GRCm39) |
F824L |
possibly damaging |
Het |
Pspn |
C |
T |
17: 57,306,566 (GRCm39) |
R121Q |
probably benign |
Het |
Ric1 |
A |
G |
19: 29,578,380 (GRCm39) |
D1195G |
possibly damaging |
Het |
Sin3b |
A |
G |
8: 73,471,196 (GRCm39) |
D381G |
probably damaging |
Het |
Slc37a3 |
T |
C |
6: 39,336,919 (GRCm39) |
|
probably null |
Het |
Smtn |
T |
A |
11: 3,482,601 (GRCm39) |
K124* |
probably null |
Het |
Tbce |
A |
G |
13: 14,194,449 (GRCm39) |
V70A |
possibly damaging |
Het |
Tti1 |
A |
G |
2: 157,842,597 (GRCm39) |
Y811H |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,235,603 (GRCm39) |
Y1424C |
probably damaging |
Het |
Upf1 |
A |
G |
8: 70,785,977 (GRCm39) |
V994A |
probably benign |
Het |
Vmn2r121 |
T |
C |
X: 123,042,635 (GRCm39) |
D174G |
possibly 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 |
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 |
R9769:Ccnb1
|
UTSW |
13 |
100,917,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |