Incidental Mutation 'IGL02372:Ccnb1'
| ID |
290975 |
| 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 # |
IGL02372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100915247-100922994 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100917824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 259
(Y259H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071989
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072119]
[ENSMUST00000091295]
[ENSMUST00000174038]
|
| AlphaFold |
P24860 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072119
AA Change: Y259H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431
AA Change: Y259H
| 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 damaging
Transcript: ENSMUST00000091295
AA Change: Y198H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431
AA Change: Y198H
| 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: Y259H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431
AA Change: Y259H
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
A |
G |
11: 120,485,701 (GRCm39) |
|
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,332,461 (GRCm39) |
|
probably null |
Het |
| Arc |
A |
G |
15: 74,543,954 (GRCm39) |
S90P |
probably damaging |
Het |
| Atp6v1e1 |
T |
A |
6: 120,778,084 (GRCm39) |
K150N |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,844,674 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,814,108 (GRCm39) |
V1938A |
probably benign |
Het |
| Ckmt2 |
A |
G |
13: 92,013,343 (GRCm39) |
V37A |
probably benign |
Het |
| Dpys |
G |
T |
15: 39,656,667 (GRCm39) |
P467T |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,760,862 (GRCm39) |
T1535A |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,986 (GRCm39) |
L302P |
probably benign |
Het |
| Faf1 |
T |
G |
4: 109,792,779 (GRCm39) |
F584V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,707,772 (GRCm39) |
R72C |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,871 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
G |
T |
13: 14,438,706 (GRCm39) |
D892E |
probably damaging |
Het |
| Hr |
A |
G |
14: 70,795,790 (GRCm39) |
E474G |
possibly damaging |
Het |
| Ltbp1 |
T |
G |
17: 75,559,401 (GRCm39) |
F297V |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,707 (GRCm39) |
N127D |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,986,613 (GRCm39) |
N671K |
probably benign |
Het |
| Nup210l |
C |
A |
3: 90,109,278 (GRCm39) |
T1607N |
possibly damaging |
Het |
| Or8s8 |
A |
T |
15: 98,354,709 (GRCm39) |
T173S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,974,370 (GRCm39) |
K22* |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,513,650 (GRCm39) |
L942P |
probably damaging |
Het |
| Plekhg5 |
C |
T |
4: 152,186,537 (GRCm39) |
R40W |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,169,609 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
A |
G |
1: 127,847,298 (GRCm39) |
|
probably benign |
Het |
| Sbk1 |
T |
C |
7: 125,890,230 (GRCm39) |
L81P |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,920,104 (GRCm39) |
P1524S |
probably damaging |
Het |
| Smpdl3a |
T |
A |
10: 57,683,611 (GRCm39) |
N240K |
probably benign |
Het |
| Smyd4 |
A |
T |
11: 75,281,111 (GRCm39) |
K195* |
probably null |
Het |
| Spmap1 |
A |
T |
11: 97,666,525 (GRCm39) |
Y54N |
probably damaging |
Het |
| Tulp3 |
A |
T |
6: 128,304,561 (GRCm39) |
M231K |
possibly damaging |
Het |
| Zfp87 |
A |
G |
13: 67,668,739 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R9769:Ccnb1
|
UTSW |
13 |
100,917,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation