Incidental Mutation 'R4062:Cdc40'
ID |
315916 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc40
|
Ensembl Gene |
ENSMUSG00000038446 |
Gene Name |
cell division cycle 40 |
Synonyms |
PRP17, EHB3, 1200003H23Rik |
MMRRC Submission |
040971-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R4062 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
40707617-40759139 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 40725848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044166]
|
AlphaFold |
Q9DC48 |
Predicted Effect |
probably null
Transcript: ENSMUST00000044166
|
SMART Domains |
Protein: ENSMUSP00000044305 Gene: ENSMUSG00000038446
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.8%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
A |
T |
1: 53,197,928 (GRCm39) |
L140Q |
probably damaging |
Het |
Adam17 |
T |
C |
12: 21,375,458 (GRCm39) |
D787G |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Bnip3l |
T |
C |
14: 67,246,187 (GRCm39) |
N16S |
possibly damaging |
Het |
Cd320 |
T |
A |
17: 34,066,491 (GRCm39) |
N90K |
probably benign |
Het |
Clec4b1 |
C |
A |
6: 123,045,443 (GRCm39) |
H55N |
probably benign |
Het |
Cyp4a10 |
A |
T |
4: 115,376,898 (GRCm39) |
R87S |
probably benign |
Het |
Duoxa2 |
G |
T |
2: 122,131,058 (GRCm39) |
S73I |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,686,606 (GRCm39) |
C355R |
probably benign |
Het |
Emilin3 |
T |
C |
2: 160,749,716 (GRCm39) |
T631A |
probably benign |
Het |
Ep400 |
A |
T |
5: 110,889,847 (GRCm39) |
M472K |
probably benign |
Het |
Erap1 |
G |
T |
13: 74,811,655 (GRCm39) |
M338I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fanca |
T |
C |
8: 124,001,911 (GRCm39) |
T1061A |
probably benign |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Gcdh |
T |
C |
8: 85,619,082 (GRCm39) |
I152V |
probably damaging |
Het |
Gls |
T |
C |
1: 52,235,907 (GRCm39) |
K403E |
probably damaging |
Het |
Gorasp2 |
T |
C |
2: 70,509,857 (GRCm39) |
C173R |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,522,150 (GRCm39) |
V749I |
probably damaging |
Het |
Hnrnpll |
T |
C |
17: 80,340,201 (GRCm39) |
H526R |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,514,096 (GRCm39) |
V101I |
probably benign |
Het |
Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
Isl1 |
T |
A |
13: 116,439,626 (GRCm39) |
I241F |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
Lcp1 |
T |
C |
14: 75,452,620 (GRCm39) |
V442A |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mbnl1 |
T |
C |
3: 60,511,176 (GRCm39) |
L136P |
probably damaging |
Het |
Mrps24 |
G |
A |
11: 5,654,676 (GRCm39) |
R93* |
probably null |
Het |
Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
Obscn |
T |
C |
11: 58,973,536 (GRCm39) |
T1932A |
probably damaging |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Plagl1 |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
TGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCC |
10: 13,004,515 (GRCm39) |
|
probably benign |
Het |
Ptpn18 |
A |
T |
1: 34,512,011 (GRCm39) |
H45L |
possibly damaging |
Het |
Rab3il1 |
T |
C |
19: 10,003,988 (GRCm39) |
S36P |
probably benign |
Het |
Rims1 |
G |
T |
1: 22,572,664 (GRCm39) |
N512K |
probably benign |
Het |
Rinl |
T |
C |
7: 28,490,140 (GRCm39) |
Y60H |
probably benign |
Het |
Scamp2 |
G |
T |
9: 57,484,545 (GRCm39) |
|
probably null |
Het |
Septin9 |
T |
C |
11: 117,243,091 (GRCm39) |
S324P |
probably damaging |
Het |
Sh3pxd2b |
G |
T |
11: 32,372,263 (GRCm39) |
A477S |
probably benign |
Het |
Soat2 |
A |
G |
15: 102,069,526 (GRCm39) |
T396A |
possibly damaging |
Het |
Tenm2 |
C |
T |
11: 35,899,482 (GRCm39) |
G2559S |
probably damaging |
Het |
Tpcn1 |
G |
A |
5: 120,695,962 (GRCm39) |
A97V |
possibly damaging |
Het |
Trdn |
A |
G |
10: 33,133,083 (GRCm39) |
E311G |
probably benign |
Het |
Usp13 |
T |
C |
3: 32,935,572 (GRCm39) |
Y333H |
probably damaging |
Het |
Usp18 |
A |
G |
6: 121,238,326 (GRCm39) |
T158A |
probably benign |
Het |
Vmn1r118 |
G |
T |
7: 20,645,933 (GRCm39) |
Q114K |
probably damaging |
Het |
Wwp1 |
A |
T |
4: 19,638,644 (GRCm39) |
N566K |
possibly damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAACAGTGCAAGCAATTGG -3'
(R):5'- ACTTCTGTCTAGCCATTGGGG -3'
Sequencing Primer
(F):5'- GCAAGCAATTGGTATTATATGGCG -3'
(R):5'- GGGGGAGGAGACAGACTC -3'
|
Posted On |
2015-05-15 |