Incidental Mutation 'R3436:Cdc20b'
| ID |
267202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc20b
|
| Ensembl Gene |
ENSMUSG00000078926 |
| Gene Name |
cell division cycle 20B |
| Synonyms |
EG238896, EG622422 |
| MMRRC Submission |
040654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R3436 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
113171645-113227729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 113215233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 267
(I267T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109244]
[ENSMUST00000181117]
[ENSMUST00000181568]
|
| AlphaFold |
D3Z3I0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109244
AA Change: I267T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104867
Gene: ENSMUSG00000078926
AA Change: I267T
| 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: I267T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137915
Gene: ENSMUSG00000078926
AA Change: I267T
| 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: I267T
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137849
Gene: ENSMUSG00000078926
AA Change: I267T
| 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 |
0.5741 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambp |
T |
C |
4: 63,067,721 (GRCm39) |
E163G |
probably benign |
Het |
| Angptl3 |
A |
T |
4: 98,921,540 (GRCm39) |
K219N |
probably benign |
Het |
| Atp6v1g1 |
A |
G |
4: 63,468,255 (GRCm39) |
N86S |
probably benign |
Het |
| Cadps |
A |
T |
14: 12,616,158 (GRCm38) |
|
probably null |
Het |
| Ccdc146 |
A |
G |
5: 21,502,003 (GRCm39) |
S804P |
possibly damaging |
Het |
| Cdh8 |
A |
G |
8: 100,127,350 (GRCm39) |
|
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,470 (GRCm39) |
N873K |
probably benign |
Het |
| Ehd1 |
G |
T |
19: 6,327,044 (GRCm39) |
E14* |
probably null |
Het |
| F8 |
A |
G |
X: 74,311,030 (GRCm39) |
|
probably benign |
Het |
| Flnb |
T |
C |
14: 7,942,057 (GRCm38) |
V2345A |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,969,189 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ighg1 |
T |
C |
12: 113,293,180 (GRCm39) |
E170G |
probably damaging |
Het |
| Kmt2b |
G |
T |
7: 30,276,117 (GRCm39) |
P1794Q |
probably damaging |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Med25 |
C |
A |
7: 44,535,314 (GRCm39) |
R37L |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,323 (GRCm39) |
I92V |
probably damaging |
Het |
| Or2n1e |
G |
A |
17: 38,586,421 (GRCm39) |
G253D |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,448 (GRCm39) |
F100Y |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,478 (GRCm39) |
N1271D |
probably benign |
Het |
| Plpp2 |
A |
T |
10: 79,363,647 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
T |
16: 36,882,699 (GRCm39) |
N1342I |
probably damaging |
Het |
| Prr16 |
A |
G |
18: 51,436,195 (GRCm39) |
N225D |
probably benign |
Het |
| Pwwp2a |
C |
T |
11: 43,597,015 (GRCm39) |
Q452* |
probably null |
Het |
| Slfn2 |
A |
T |
11: 82,960,390 (GRCm39) |
H123L |
probably benign |
Het |
| Sort1 |
T |
A |
3: 108,245,123 (GRCm39) |
I325N |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,335,156 (GRCm39) |
Y654C |
probably damaging |
Het |
| Tmprss11b |
A |
T |
5: 86,815,443 (GRCm39) |
Y48* |
probably null |
Het |
| Tpp2 |
T |
C |
1: 43,979,304 (GRCm39) |
I67T |
probably damaging |
Het |
| Trdn |
G |
A |
10: 33,344,191 (GRCm39) |
|
probably null |
Het |
| Trim14 |
C |
T |
4: 46,523,739 (GRCm39) |
V100I |
possibly damaging |
Het |
| Trim17 |
T |
C |
11: 58,856,059 (GRCm39) |
C39R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,741 (GRCm39) |
P133L |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,097,028 (GRCm39) |
|
probably benign |
Het |
| Vmn2r94 |
G |
A |
17: 18,478,650 (GRCm39) |
|
probably benign |
Het |
| Vsig4 |
A |
G |
X: 95,334,422 (GRCm39) |
V29A |
probably benign |
Het |
| Washc4 |
T |
A |
10: 83,405,866 (GRCm39) |
I454N |
probably benign |
Het |
| Wnk3 |
T |
A |
X: 150,069,300 (GRCm39) |
F886I |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,096,644 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
A |
T |
7: 35,487,195 (GRCm39) |
Y234N |
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 |
|
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 |
|
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'- GGTTCAGGACTTCATTTGATATCAG -3'
(R):5'- ATACCCCTCAGTGACATGCTG -3'
Sequencing Primer
(F):5'- GACTTCATTTGATATCAGTTCACAGC -3'
(R):5'- ACATGCTGGACGTTATCTAGTGAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation