Incidental Mutation 'R0409:Cdc40'
| ID |
36527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc40
|
| Ensembl Gene |
ENSMUSG00000038446 |
| Gene Name |
cell division cycle 40 |
| Synonyms |
PRP17, EHB3, 1200003H23Rik |
| MMRRC Submission |
038611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R0409 (G1)
|
| Quality Score |
121 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
40707617-40759139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 40723164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 302
(H302N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044166]
|
| AlphaFold |
Q9DC48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044166
AA Change: H302N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: H302N
| 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
|
| Meta Mutation Damage Score |
0.2597 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.8%
|
| Validation Efficiency |
100% (55/55) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,816 (GRCm39) |
A89S |
probably damaging |
Het |
| Alkbh3 |
T |
A |
2: 93,831,793 (GRCm39) |
I146F |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,375,783 (GRCm39) |
I871F |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,819,385 (GRCm39) |
V509G |
possibly damaging |
Het |
| Car7 |
G |
A |
8: 105,275,056 (GRCm39) |
A165T |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,535,423 (GRCm39) |
V271A |
probably benign |
Het |
| Cep104 |
C |
T |
4: 154,067,510 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
C |
A |
10: 92,612,075 (GRCm39) |
S3161I |
probably benign |
Het |
| Chil5 |
A |
G |
3: 105,942,282 (GRCm39) |
|
probably benign |
Het |
| Chil6 |
C |
T |
3: 106,311,492 (GRCm39) |
G96D |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,475,483 (GRCm39) |
K531E |
probably damaging |
Het |
| Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
| Disp3 |
T |
G |
4: 148,356,416 (GRCm39) |
E148A |
probably damaging |
Het |
| Eps8l2 |
A |
G |
7: 140,922,893 (GRCm39) |
Y52C |
probably damaging |
Het |
| Exph5 |
C |
A |
9: 53,285,643 (GRCm39) |
T908K |
probably benign |
Het |
| Fat4 |
C |
T |
3: 39,031,562 (GRCm39) |
S2449F |
probably damaging |
Het |
| Faxc |
T |
A |
4: 21,948,751 (GRCm39) |
N154K |
probably benign |
Het |
| Fbxo43 |
C |
T |
15: 36,162,503 (GRCm39) |
A235T |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,180 (GRCm39) |
|
probably null |
Het |
| Fsd1l |
T |
C |
4: 53,679,932 (GRCm39) |
L210P |
probably benign |
Het |
| Gm6420 |
A |
C |
1: 23,295,119 (GRCm39) |
S123R |
unknown |
Het |
| Gm8801 |
T |
G |
17: 36,258,268 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
T |
C |
14: 47,053,679 (GRCm39) |
I36V |
probably benign |
Het |
| Gsap |
G |
A |
5: 21,427,443 (GRCm39) |
|
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,829,339 (GRCm39) |
I969L |
possibly damaging |
Het |
| Il21r |
G |
T |
7: 125,229,012 (GRCm39) |
|
probably benign |
Het |
| Lrrc7 |
A |
G |
3: 157,867,063 (GRCm39) |
F893L |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,472,739 (GRCm39) |
I1715V |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,287,628 (GRCm39) |
I1339T |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,549,810 (GRCm39) |
D1127G |
probably benign |
Het |
| Noc3l |
A |
G |
19: 38,806,371 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
A |
G |
8: 95,030,293 (GRCm39) |
D384G |
probably damaging |
Het |
| Or5m9b |
T |
A |
2: 85,905,646 (GRCm39) |
C187* |
probably null |
Het |
| Or5p54 |
T |
C |
7: 107,554,433 (GRCm39) |
I195T |
probably benign |
Het |
| Or8b40 |
C |
T |
9: 38,027,547 (GRCm39) |
L152F |
probably benign |
Het |
| Pls1 |
A |
T |
9: 95,668,972 (GRCm39) |
|
probably benign |
Het |
| Prkcb |
A |
T |
7: 122,024,200 (GRCm39) |
H75L |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,449 (GRCm39) |
Y539* |
probably null |
Het |
| Rnf10 |
A |
T |
5: 115,393,506 (GRCm39) |
|
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,582 (GRCm39) |
Y234C |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,741,717 (GRCm39) |
|
probably benign |
Het |
| Sec23b |
T |
A |
2: 144,409,832 (GRCm39) |
M240K |
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,681,755 (GRCm39) |
N945Y |
probably damaging |
Het |
| Snapc4 |
C |
A |
2: 26,257,228 (GRCm39) |
R799L |
probably benign |
Het |
| Spata31g1 |
A |
C |
4: 42,972,203 (GRCm39) |
K512T |
probably damaging |
Het |
| Tctn3 |
T |
C |
19: 40,599,860 (GRCm39) |
|
probably benign |
Het |
| Tex56 |
A |
T |
13: 35,108,532 (GRCm39) |
I5L |
probably benign |
Het |
| Tfpt |
G |
A |
7: 3,623,898 (GRCm39) |
Q50* |
probably null |
Het |
| Trim80 |
T |
C |
11: 115,332,039 (GRCm39) |
V77A |
probably damaging |
Het |
| Trp73 |
T |
A |
4: 154,148,841 (GRCm39) |
D256V |
possibly damaging |
Het |
| Utrn |
G |
T |
10: 12,519,345 (GRCm39) |
N2202K |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,858,926 (GRCm39) |
F2792Y |
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 |
|
|
IGL03058:Cdc40
|
APN |
10 |
40,725,824 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03178:Cdc40
|
APN |
10 |
40,723,985 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAATGCCAAAGCGATTGGATTAC -3'
(R):5'- TGGAGCCATTTGACTGTCTCAGC -3'
Sequencing Primer
(F):5'- GTTTGGAAGCAGTCCATCAATAGC -3'
(R):5'- TCCCTAGCTTATAGTGTCGAGAGAAG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation