Incidental Mutation 'IGL03058:Cdc40'
ID |
409315 |
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 # |
IGL03058
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
40707617-40759139 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40725824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 215
(E215G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044166]
|
AlphaFold |
Q9DC48 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044166
AA Change: E215G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000044305 Gene: ENSMUSG00000038446 AA Change: E215G
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
Slco1c1 |
A |
G |
6: 141,508,913 (GRCm39) |
I573M |
probably benign |
Het |
Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
probably benign |
Het |
|
Other mutations in Cdc40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00969:Cdc40
|
APN |
10 |
40,719,124 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
2016-08-02 |