Incidental Mutation 'IGL01625:Cdc20b'
ID |
92774 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdc20b
|
Ensembl Gene |
ENSMUSG00000078926 |
Gene Name |
cell division cycle 20B |
Synonyms |
EG238896, EG622422 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
IGL01625
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
113171645-113227729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113196319 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 148
(L148P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109244]
[ENSMUST00000181117]
[ENSMUST00000181568]
|
AlphaFold |
D3Z3I0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109244
AA Change: L148P
PolyPhen 2
Score 0.744 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000104867 Gene: ENSMUSG00000078926 AA Change: L148P
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: L148P
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137915 Gene: ENSMUSG00000078926 AA Change: L148P
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: L148P
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000137849 Gene: ENSMUSG00000078926 AA Change: L148P
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 |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
A |
5: 144,979,957 (GRCm39) |
H37Q |
possibly damaging |
Het |
Akr1c19 |
T |
A |
13: 4,283,816 (GRCm39) |
I16N |
probably damaging |
Het |
Arpc1b |
T |
C |
5: 145,058,555 (GRCm39) |
|
probably null |
Het |
Bzw1 |
A |
G |
1: 58,440,599 (GRCm39) |
T191A |
probably benign |
Het |
Cacna1h |
G |
A |
17: 25,604,686 (GRCm39) |
T1209I |
possibly damaging |
Het |
Cacna1h |
T |
C |
17: 25,602,459 (GRCm39) |
D1523G |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,311,085 (GRCm39) |
F3147L |
possibly damaging |
Het |
Dagla |
A |
G |
19: 10,228,566 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,935,471 (GRCm39) |
N1983D |
probably damaging |
Het |
Fbxw10 |
G |
A |
11: 62,750,853 (GRCm39) |
D479N |
probably damaging |
Het |
Fer |
A |
T |
17: 64,344,621 (GRCm39) |
Q630L |
probably damaging |
Het |
Gbp5 |
A |
G |
3: 142,208,789 (GRCm39) |
N111D |
probably damaging |
Het |
Gm8127 |
T |
G |
14: 43,148,520 (GRCm39) |
|
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,428,409 (GRCm39) |
N814K |
probably damaging |
Het |
Iba57 |
G |
A |
11: 59,049,775 (GRCm39) |
R191W |
probably damaging |
Het |
Itgae |
C |
A |
11: 73,010,263 (GRCm39) |
F584L |
probably benign |
Het |
Kdm5b |
A |
G |
1: 134,545,706 (GRCm39) |
K956E |
possibly damaging |
Het |
Muc4 |
C |
T |
16: 32,575,918 (GRCm39) |
|
probably benign |
Het |
Mybpc2 |
T |
C |
7: 44,166,337 (GRCm39) |
K218E |
possibly damaging |
Het |
Pcdh10 |
T |
C |
3: 45,333,832 (GRCm39) |
S49P |
probably damaging |
Het |
Prss3b |
A |
C |
6: 41,009,882 (GRCm39) |
S151A |
probably benign |
Het |
Rai14 |
T |
C |
15: 10,572,460 (GRCm39) |
D889G |
probably benign |
Het |
Rbpjl |
A |
G |
2: 164,249,705 (GRCm39) |
K102R |
possibly damaging |
Het |
Retreg2 |
A |
G |
1: 75,121,359 (GRCm39) |
|
probably benign |
Het |
Rfc4 |
A |
T |
16: 22,934,573 (GRCm39) |
L149Q |
probably damaging |
Het |
Rft1 |
T |
A |
14: 30,398,853 (GRCm39) |
D274E |
possibly damaging |
Het |
Rlf |
A |
T |
4: 121,045,457 (GRCm39) |
S143R |
possibly damaging |
Het |
Rptn |
T |
A |
3: 93,305,201 (GRCm39) |
S845T |
probably benign |
Het |
Slamf8 |
C |
A |
1: 172,410,049 (GRCm39) |
D267Y |
probably damaging |
Het |
Smoc2 |
C |
T |
17: 14,545,876 (GRCm39) |
S55L |
probably damaging |
Het |
Sptan1 |
C |
T |
2: 29,916,126 (GRCm39) |
A2038V |
probably damaging |
Het |
Stx17 |
C |
A |
4: 48,181,526 (GRCm39) |
P210T |
probably damaging |
Het |
Tbc1d5 |
A |
G |
17: 51,224,601 (GRCm39) |
Y317H |
probably benign |
Het |
Tenm4 |
C |
A |
7: 96,534,565 (GRCm39) |
T1737N |
probably damaging |
Het |
Tesk2 |
T |
C |
4: 116,628,998 (GRCm39) |
F116L |
possibly damaging |
Het |
Tln2 |
T |
C |
9: 67,277,905 (GRCm39) |
S370G |
probably damaging |
Het |
Tm6sf2 |
G |
T |
8: 70,528,733 (GRCm39) |
G162C |
probably null |
Het |
Togaram2 |
A |
C |
17: 72,021,693 (GRCm39) |
E718D |
probably benign |
Het |
Ttn |
A |
C |
2: 76,578,327 (GRCm39) |
F15862V |
probably damaging |
Het |
Uba6 |
T |
A |
5: 86,268,388 (GRCm39) |
R916* |
probably null |
Het |
Umodl1 |
A |
G |
17: 31,215,229 (GRCm39) |
M1018V |
probably benign |
Het |
Wdr26 |
G |
A |
1: 181,019,381 (GRCm39) |
T332I |
possibly damaging |
Het |
Xdh |
A |
T |
17: 74,223,781 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Cdc20b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-12-09 |