Incidental Mutation 'R4521:Cdc20b'
| ID |
334237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20b
|
| Ensembl Gene |
ENSMUSG00000078926 |
| Gene Name |
cell division cycle 20B |
| Synonyms |
EG238896, EG622422 |
| MMRRC Submission |
041764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R4521 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113171645-113227729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 113217725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 381
(I381M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137849
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109244]
[ENSMUST00000181117]
[ENSMUST00000181568]
|
| AlphaFold |
D3Z3I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109244
AA Change: I381M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
AA Change: I381M
| 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 |
probably damaging
Transcript: ENSMUST00000181117
AA Change: I381M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
AA Change: I381M
| 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 |
probably damaging
Transcript: ENSMUST00000181568
AA Change: I381M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
AA Change: I381M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232584
|
| Meta Mutation Damage Score |
0.4371 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
| Cadm3 |
A |
T |
1: 173,172,630 (GRCm39) |
|
probably null |
Het |
| Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
| Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,884,938 (GRCm39) |
L243H |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,041,264 (GRCm39) |
Y801H |
probably damaging |
Het |
| Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,050 (GRCm39) |
N136I |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,459 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,346,167 (GRCm39) |
V496A |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Wdr36 |
G |
A |
18: 32,974,201 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
R6887:Cdc20b
|
UTSW |
13 |
113,215,187 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- TCTTCCTCTCTAACTCAGTGGG -3'
(R):5'- AATCCCAGCTAGCTCTCACT -3'
Sequencing Primer
(F):5'- CTCTAACTCAGTGGGTCCAGATTG -3'
(R):5'- GAGAGGGTCTCACTAAATTGCCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation