Incidental Mutation 'R3837:Cdc20b'
ID |
275716 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc20b
|
Ensembl Gene |
ENSMUSG00000078926 |
Gene Name |
cell division cycle 20B |
Synonyms |
EG238896, EG622422 |
MMRRC Submission |
040778-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
R3837 (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 113220542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 432
(W432R)
|
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: W474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104867 Gene: ENSMUSG00000078926 AA Change: W474R
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: W474R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137915 Gene: ENSMUSG00000078926 AA Change: W474R
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: W432R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137849 Gene: ENSMUSG00000078926 AA Change: W432R
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 |
0.9060 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028I16Rik |
A |
G |
10: 82,648,219 (GRCm39) |
|
noncoding transcript |
Het |
4930474N05Rik |
G |
A |
14: 35,817,435 (GRCm39) |
G112S |
probably benign |
Het |
Adam24 |
T |
C |
8: 41,133,584 (GRCm39) |
S351P |
probably benign |
Het |
Amigo2 |
T |
C |
15: 97,143,196 (GRCm39) |
I409V |
probably damaging |
Het |
Arhgef25 |
T |
C |
10: 127,025,605 (GRCm39) |
T12A |
probably benign |
Het |
Atg10 |
A |
T |
13: 91,085,499 (GRCm39) |
I150K |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,509,204 (GRCm39) |
|
probably benign |
Het |
Cdh9 |
G |
T |
15: 16,823,524 (GRCm39) |
E169* |
probably null |
Het |
Col28a1 |
C |
T |
6: 8,014,601 (GRCm39) |
V935M |
possibly damaging |
Het |
Col6a3 |
T |
C |
1: 90,707,803 (GRCm39) |
N1948D |
unknown |
Het |
Dnajb2 |
G |
A |
1: 75,218,124 (GRCm39) |
|
probably null |
Het |
Fam13c |
C |
T |
10: 70,378,478 (GRCm39) |
S336L |
probably damaging |
Het |
Fn1 |
A |
T |
1: 71,692,314 (GRCm39) |
|
probably null |
Het |
Fryl |
T |
C |
5: 73,228,608 (GRCm39) |
T1708A |
probably benign |
Het |
Gcnt4 |
A |
T |
13: 97,083,522 (GRCm39) |
R273* |
probably null |
Het |
Gldc |
T |
A |
19: 30,096,075 (GRCm39) |
|
probably benign |
Het |
Glra2 |
C |
T |
X: 164,072,612 (GRCm39) |
V85I |
probably benign |
Het |
Gm11562 |
A |
G |
11: 99,511,026 (GRCm39) |
I58T |
possibly damaging |
Het |
Gpam |
T |
C |
19: 55,068,890 (GRCm39) |
N450S |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hmcn2 |
T |
C |
2: 31,303,419 (GRCm39) |
L3020P |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,795,597 (GRCm39) |
I324T |
probably benign |
Het |
Itih1 |
T |
A |
14: 30,657,785 (GRCm39) |
N429Y |
probably damaging |
Het |
Lamtor1 |
T |
C |
7: 101,559,315 (GRCm39) |
|
probably null |
Het |
Lrrd1 |
A |
T |
5: 3,900,204 (GRCm39) |
I170L |
possibly damaging |
Het |
Magi2 |
G |
A |
5: 20,420,466 (GRCm39) |
D301N |
probably benign |
Het |
Mid1ip1 |
T |
C |
X: 10,584,620 (GRCm39) |
V51A |
possibly damaging |
Het |
Mmrn1 |
G |
A |
6: 60,921,831 (GRCm39) |
S96N |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msh3 |
C |
A |
13: 92,491,366 (GRCm39) |
G15C |
probably damaging |
Het |
Myl12b |
C |
A |
17: 71,281,480 (GRCm39) |
E120* |
probably null |
Het |
Myo3a |
T |
G |
2: 22,455,121 (GRCm39) |
|
probably benign |
Het |
Nagk |
A |
T |
6: 83,778,139 (GRCm39) |
H245L |
possibly damaging |
Het |
Nap1l1 |
T |
A |
10: 111,331,183 (GRCm39) |
|
probably null |
Het |
Nlrc5 |
A |
G |
8: 95,237,929 (GRCm39) |
|
probably benign |
Het |
Ogfrl1 |
G |
A |
1: 23,409,041 (GRCm39) |
T395I |
probably benign |
Het |
Polr1b |
T |
A |
2: 128,961,027 (GRCm39) |
F662Y |
possibly damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,478 (GRCm39) |
K230E |
probably damaging |
Het |
Shld2 |
A |
G |
14: 33,971,142 (GRCm39) |
V581A |
probably damaging |
Het |
Skap2 |
C |
T |
6: 51,886,279 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
T |
4: 113,797,938 (GRCm39) |
M215K |
probably damaging |
Het |
Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
Tdp1 |
A |
G |
12: 99,860,967 (GRCm39) |
|
probably null |
Het |
Tlr3 |
G |
A |
8: 45,849,976 (GRCm39) |
L898F |
probably damaging |
Het |
Tmem210 |
A |
G |
2: 25,178,444 (GRCm39) |
E35G |
possibly damaging |
Het |
Tpbg |
T |
C |
9: 85,725,167 (GRCm39) |
|
probably benign |
Het |
Tubb2a |
G |
T |
13: 34,259,294 (GRCm39) |
N165K |
probably benign |
Het |
Usp14 |
A |
G |
18: 10,024,532 (GRCm39) |
|
probably null |
Het |
Vmn1r33 |
A |
T |
6: 66,588,701 (GRCm39) |
D284E |
possibly damaging |
Het |
Wnk1 |
T |
C |
6: 119,927,004 (GRCm39) |
E1265G |
probably damaging |
Het |
Yme1l1 |
A |
T |
2: 23,081,092 (GRCm39) |
T455S |
possibly damaging |
Het |
Zfp111 |
T |
C |
7: 23,898,891 (GRCm39) |
N241S |
possibly 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 |
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'- TGGAAGCCTTGGGATGAATCC -3'
(R):5'- ACTGCCAAAGATTGCTGCTG -3'
Sequencing Primer
(F):5'- CTCACTGAGGCTGGAGGATG -3'
(R):5'- AGATTGCTGCTGCCTAAAGC -3'
|
Posted On |
2015-04-06 |