Incidental Mutation 'IGL00969:Cdc40'
| ID |
28409 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdc40
|
| Ensembl Gene |
ENSMUSG00000038446 |
| Gene Name |
cell division cycle 40 |
| Synonyms |
PRP17, EHB3, 1200003H23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL00969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
40707617-40759139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40719124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 335
(V335E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044166]
|
| AlphaFold |
Q9DC48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044166
AA Change: V335E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: V335E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
238 |
N/A |
INTRINSIC |
|
WD40
|
277 |
317 |
6.04e-8 |
SMART |
|
WD40
|
321 |
360 |
8.1e-9 |
SMART |
|
WD40
|
363 |
404 |
1.58e-2 |
SMART |
|
WD40
|
407 |
446 |
9.52e-6 |
SMART |
|
WD40
|
452 |
489 |
2.13e1 |
SMART |
|
WD40
|
495 |
536 |
1.4e-3 |
SMART |
|
WD40
|
539 |
579 |
3.37e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215051
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216025
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp17 protein, which functions in two different cellular processes: pre-mRNA splicing and cell cycle progression. It suggests that this protein may play a role in cell cycle progression. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
G |
A |
5: 4,051,550 (GRCm39) |
S1439N |
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,419,539 (GRCm39) |
T1069A |
possibly damaging |
Het |
| Btaf1 |
T |
G |
19: 36,988,652 (GRCm39) |
|
probably benign |
Het |
| Cenpj |
A |
T |
14: 56,802,420 (GRCm39) |
N48K |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,016,420 (GRCm39) |
W635R |
probably damaging |
Het |
| Clca3a1 |
A |
G |
3: 144,714,719 (GRCm39) |
S633P |
possibly damaging |
Het |
| Cnot6 |
T |
C |
11: 49,575,947 (GRCm39) |
M176V |
probably benign |
Het |
| Cryz |
G |
T |
3: 154,324,163 (GRCm39) |
E51* |
probably null |
Het |
| Dcc |
A |
G |
18: 71,589,954 (GRCm39) |
Y681H |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,045,792 (GRCm39) |
N2412K |
probably benign |
Het |
| Gpr137b |
C |
T |
13: 13,539,650 (GRCm39) |
W258* |
probably null |
Het |
| Hnf1b |
A |
G |
11: 83,773,526 (GRCm39) |
T242A |
probably benign |
Het |
| Hsd11b1 |
A |
T |
1: 192,905,952 (GRCm39) |
C213* |
probably null |
Het |
| Igsf11 |
A |
T |
16: 38,829,279 (GRCm39) |
T117S |
probably damaging |
Het |
| Inpp5b |
T |
C |
4: 124,677,787 (GRCm39) |
Y416H |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,876,575 (GRCm39) |
V523F |
probably damaging |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,291 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,832,984 (GRCm39) |
L286S |
probably damaging |
Het |
| Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
A |
G |
14: 60,466,365 (GRCm39) |
|
probably benign |
Het |
| Or51b6b |
T |
A |
7: 103,310,274 (GRCm39) |
Y61F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,605 (GRCm39) |
L12P |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,994 (GRCm39) |
I92T |
possibly damaging |
Het |
| Or8k16 |
G |
A |
2: 85,520,007 (GRCm39) |
C78Y |
probably benign |
Het |
| Pyroxd2 |
T |
C |
19: 42,719,877 (GRCm39) |
D443G |
possibly damaging |
Het |
| Ttc28 |
A |
G |
5: 111,373,606 (GRCm39) |
D1014G |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,456,343 (GRCm39) |
S312T |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,211,410 (GRCm39) |
D473G |
probably benign |
Het |
| Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
| Wwc2 |
G |
A |
8: 48,299,193 (GRCm39) |
R1039W |
unknown |
Het |
| Zc3h14 |
T |
A |
12: 98,725,102 (GRCm39) |
S255T |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,445,074 (GRCm39) |
V739A |
probably benign |
Het |
| Zfyve21 |
A |
G |
12: 111,791,368 (GRCm39) |
|
probably benign |
Het |
| Znhit6 |
A |
G |
3: 145,300,351 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cdc40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02333:Cdc40
|
APN |
10 |
40,743,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02490:Cdc40
|
APN |
10 |
40,717,767 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02878:Cdc40
|
APN |
10 |
40,719,118 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02976:Cdc40
|
APN |
10 |
40,758,917 (GRCm39) |
missense |
probably benign |
|
|
IGL03058:Cdc40
|
APN |
10 |
40,725,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03178:Cdc40
|
APN |
10 |
40,723,985 (GRCm39) |
missense |
probably benign |
|
|
R0409:Cdc40
|
UTSW |
10 |
40,723,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0522:Cdc40
|
UTSW |
10 |
40,733,608 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0608:Cdc40
|
UTSW |
10 |
40,724,048 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0730:Cdc40
|
UTSW |
10 |
40,720,952 (GRCm39) |
splice site |
probably benign |
|
|
R1712:Cdc40
|
UTSW |
10 |
40,717,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1940:Cdc40
|
UTSW |
10 |
40,759,067 (GRCm39) |
unclassified |
probably benign |
|
|
R4062:Cdc40
|
UTSW |
10 |
40,725,848 (GRCm39) |
splice site |
probably null |
|
|
R5035:Cdc40
|
UTSW |
10 |
40,725,809 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5628:Cdc40
|
UTSW |
10 |
40,727,049 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6933:Cdc40
|
UTSW |
10 |
40,720,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7082:Cdc40
|
UTSW |
10 |
40,743,869 (GRCm39) |
missense |
probably benign |
|
|
R7419:Cdc40
|
UTSW |
10 |
40,717,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7625:Cdc40
|
UTSW |
10 |
40,724,048 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7834:Cdc40
|
UTSW |
10 |
40,758,945 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7908:Cdc40
|
UTSW |
10 |
40,724,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8031:Cdc40
|
UTSW |
10 |
40,728,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8131:Cdc40
|
UTSW |
10 |
40,717,473 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R8545:Cdc40
|
UTSW |
10 |
40,723,939 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8724:Cdc40
|
UTSW |
10 |
40,717,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Cdc40
|
UTSW |
10 |
40,717,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Cdc40
|
UTSW |
10 |
40,717,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8745:Cdc40
|
UTSW |
10 |
40,717,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8753:Cdc40
|
UTSW |
10 |
40,717,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8754:Cdc40
|
UTSW |
10 |
40,717,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Cdc40
|
UTSW |
10 |
40,733,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8845:Cdc40
|
UTSW |
10 |
40,717,790 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8899:Cdc40
|
UTSW |
10 |
40,717,809 (GRCm39) |
nonsense |
probably null |
|
|
RF041:Cdc40
|
UTSW |
10 |
40,719,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Cdc40
|
UTSW |
10 |
40,717,448 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation