Incidental Mutation 'R6887:Cdc20b'
| ID |
537009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20b
|
| Ensembl Gene |
ENSMUSG00000078926 |
| Gene Name |
cell division cycle 20B |
| Synonyms |
EG238896, EG622422 |
| MMRRC Submission |
044981-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6887 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113171645-113227729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113215187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 252
(S252P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109244]
[ENSMUST00000181117]
[ENSMUST00000181568]
|
| AlphaFold |
D3Z3I0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109244
AA Change: S252P
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
AA Change: S252P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
391 |
432 |
3.55e1 |
SMART |
|
WD40
|
473 |
517 |
2.01e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181117
AA Change: S252P
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
AA Change: S252P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
391 |
432 |
3.55e1 |
SMART |
|
WD40
|
473 |
513 |
1.78e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000181568
AA Change: S252P
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
AA Change: S252P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
WD40
|
218 |
257 |
6.6e1 |
SMART |
|
WD40
|
266 |
301 |
5.75e-1 |
SMART |
|
WD40
|
304 |
341 |
9.24e-1 |
SMART |
|
WD40
|
345 |
383 |
9.02e-7 |
SMART |
|
WD40
|
431 |
475 |
2.01e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,742,231 (GRCm39) |
V543I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,118,960 (GRCm39) |
I1104V |
possibly damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,248,370 (GRCm39) |
I681F |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,676,820 (GRCm39) |
M2004L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,501,688 (GRCm39) |
S785P |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,532 (GRCm39) |
I242N |
probably damaging |
Het |
| Arhgap5 |
T |
C |
12: 52,565,927 (GRCm39) |
L966P |
probably benign |
Het |
| Atp8a1 |
T |
C |
5: 67,895,794 (GRCm39) |
T547A |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,505,811 (GRCm38) |
F753S |
probably damaging |
Het |
| Cep63 |
A |
G |
9: 102,503,126 (GRCm39) |
|
probably benign |
Het |
| Chrna5 |
G |
T |
9: 54,912,417 (GRCm39) |
V302L |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,168,378 (GRCm39) |
T374A |
probably damaging |
Het |
| Dmtf1 |
T |
G |
5: 9,187,149 (GRCm39) |
D140A |
probably damaging |
Het |
| Exosc8 |
C |
T |
3: 54,641,120 (GRCm39) |
V39M |
probably damaging |
Het |
| Fam135b |
A |
C |
15: 71,335,164 (GRCm39) |
S677A |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,828 (GRCm39) |
Y93H |
probably damaging |
Het |
| Hrc |
T |
C |
7: 44,985,088 (GRCm39) |
F80L |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,025,599 (GRCm39) |
T139A |
possibly damaging |
Het |
| Kdr |
T |
G |
5: 76,129,111 (GRCm39) |
R178S |
probably benign |
Het |
| Lrrc61 |
A |
C |
6: 48,545,366 (GRCm39) |
N63T |
probably damaging |
Het |
| Mrc1 |
C |
T |
2: 14,330,048 (GRCm39) |
A1219V |
possibly damaging |
Het |
| Neto1 |
T |
C |
18: 86,516,760 (GRCm39) |
V359A |
probably benign |
Het |
| Ngly1 |
T |
C |
14: 16,281,836 (GRCm38) |
I364T |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,907,301 (GRCm39) |
|
probably benign |
Het |
| Or2y8 |
C |
A |
11: 52,036,179 (GRCm39) |
M59I |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,374,651 (GRCm39) |
D1333G |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,703,830 (GRCm39) |
V134F |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,430 (GRCm39) |
Y406C |
probably damaging |
Het |
| Robo4 |
G |
C |
9: 37,313,363 (GRCm39) |
E6Q |
possibly damaging |
Het |
| Scnn1g |
C |
A |
7: 121,359,667 (GRCm39) |
S383R |
probably benign |
Het |
| Sgtb |
T |
C |
13: 104,247,659 (GRCm39) |
W13R |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,435,633 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,027,907 (GRCm39) |
Q732* |
probably null |
Het |
| Tek |
T |
A |
4: 94,693,181 (GRCm39) |
C247S |
probably damaging |
Het |
| Tmf1 |
A |
T |
6: 97,153,799 (GRCm39) |
D91E |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,310,140 (GRCm39) |
L326P |
probably damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,598,248 (GRCm39) |
C770S |
probably damaging |
Het |
| Wdr31 |
C |
T |
4: 62,375,802 (GRCm39) |
G58R |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,313,223 (GRCm39) |
I54T |
probably damaging |
Het |
|
| Other mutations in Cdc20b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Cdc20b
|
APN |
13 |
113,196,319 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02603:Cdc20b
|
APN |
13 |
113,215,289 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02663:Cdc20b
|
APN |
13 |
113,192,665 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03024:Cdc20b
|
APN |
13 |
113,227,576 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03379:Cdc20b
|
APN |
13 |
113,217,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8930:Cdc20b
|
UTSW |
13 |
113,220,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Cdc20b
|
UTSW |
13 |
113,215,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0347:Cdc20b
|
UTSW |
13 |
113,196,361 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0448:Cdc20b
|
UTSW |
13 |
113,215,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Cdc20b
|
UTSW |
13 |
113,192,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1573:Cdc20b
|
UTSW |
13 |
113,192,478 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1651:Cdc20b
|
UTSW |
13 |
113,215,258 (GRCm39) |
nonsense |
probably null |
|
|
R1786:Cdc20b
|
UTSW |
13 |
113,217,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Cdc20b
|
UTSW |
13 |
113,208,451 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2118:Cdc20b
|
UTSW |
13 |
113,215,232 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3436:Cdc20b
|
UTSW |
13 |
113,215,233 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3508:Cdc20b
|
UTSW |
13 |
113,217,576 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R3837:Cdc20b
|
UTSW |
13 |
113,220,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Cdc20b
|
UTSW |
13 |
113,200,819 (GRCm39) |
missense |
probably benign |
|
|
R4521:Cdc20b
|
UTSW |
13 |
113,217,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Cdc20b
|
UTSW |
13 |
113,215,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6079:Cdc20b
|
UTSW |
13 |
113,220,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Cdc20b
|
UTSW |
13 |
113,200,796 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6814:Cdc20b
|
UTSW |
13 |
113,220,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6872:Cdc20b
|
UTSW |
13 |
113,220,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Cdc20b
|
UTSW |
13 |
113,219,905 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7579:Cdc20b
|
UTSW |
13 |
113,173,582 (GRCm39) |
splice site |
probably null |
|
|
R7770:Cdc20b
|
UTSW |
13 |
113,215,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8669:Cdc20b
|
UTSW |
13 |
113,208,460 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8985:Cdc20b
|
UTSW |
13 |
113,196,330 (GRCm39) |
nonsense |
probably null |
|
|
R9182:Cdc20b
|
UTSW |
13 |
113,208,503 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9309:Cdc20b
|
UTSW |
13 |
113,216,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Cdc20b
|
UTSW |
13 |
113,192,631 (GRCm39) |
missense |
probably benign |
0.03 |
|
U15987:Cdc20b
|
UTSW |
13 |
113,220,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Cdc20b
|
UTSW |
13 |
113,196,276 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGATCTCATCTGGTTCAGGAC -3'
(R):5'- CATGCTGGACGTTATCTAGTGAC -3'
Sequencing Primer
(F):5'- GGTTCAGGACTTCATTTGATATCAG -3'
(R):5'- CTGGACGTTATCTAGTGACTGCAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation