Incidental Mutation 'RF041:Cdc40'
| ID |
604826 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF041 (G1)
|
| Quality Score |
181.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40707617-40759139 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 40719119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 337
(D337N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044166]
|
| AlphaFold |
Q9DC48 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044166
AA Change: D337N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044305
Gene: ENSMUSG00000038446
AA Change: D337N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
TGAGGA |
TGA |
12: 72,928,050 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
CCAGCAAAAACAGAAAGGAAAAGG |
CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG |
6: 131,529,836 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AGGTGGCCAG |
AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,857 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAGGTGGC |
AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC |
6: 131,529,855 (GRCm39) |
|
probably benign |
Het |
| Abcf1 |
CTCTTC |
CTC |
17: 36,274,093 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
GGCTGC |
GGCTGCGGCATCCTGTGCTGC |
4: 155,989,557 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,257 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGG |
CGGTGG |
17: 5,045,870 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
CACTGTGGG |
C |
8: 21,433,928 (GRCm39) |
|
probably null |
Het |
| Btnl1 |
C |
T |
17: 34,600,342 (GRCm39) |
T246M |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,811,780 (GRCm39) |
|
probably null |
Het |
| Defb22 |
GCTGGCCTTTGC |
GCTGGCCTTTGCCGCAGACCTGGCCTTTGC |
2: 152,327,743 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GGGGTGGAAG |
GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG |
7: 30,466,598 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CTCACCCACTCCTGGTGT |
CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT |
17: 23,981,135 (GRCm39) |
|
probably null |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT |
17: 23,981,151 (GRCm39) |
|
probably null |
Het |
| Gabre |
CTCCGG |
CTCCGGATCCGG |
X: 71,313,655 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,122 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGCG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT |
9: 106,447,812 (GRCm39) |
|
probably null |
Het |
| Kif12 |
GGC |
GGCCTCCACCCGGCGTGC |
4: 63,089,662 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGTTGCAG |
5: 25,520,773 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
CTGCTGCTGCC |
CTGCTGCTGCCCTTGCTGCTGCC |
3: 92,925,448 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,435 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,432 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCTGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCACC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGG |
CCTCACCTGGGGCCTTGGGCTCACCTGGGG |
11: 4,891,039 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Ngfr |
CAGG |
C |
11: 95,478,337 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GATACACGTTAGCAGTGAGGAGCAAGCTGA |
GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA |
2: 119,458,060 (GRCm39) |
|
probably benign |
Het |
| Nusap1 |
GTGAGGAGCAAGCTGA |
GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA |
2: 119,458,074 (GRCm39) |
|
probably benign |
Het |
| Phc1 |
TG |
TGCTGCGG |
6: 122,300,559 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,695,369 (GRCm39) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GGTGGTGGT |
GGTGGTGGTCGTGGTGGT |
7: 127,384,504 (GRCm39) |
|
probably benign |
Het |
| Sfr1 |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
19: 47,721,307 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
| Smarca2 |
AGC |
AGCCCCTGC |
19: 26,608,421 (GRCm39) |
|
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC |
18: 60,966,644 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CCCCTTG |
CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG |
18: 60,966,648 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 48,097,025 (GRCm39) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
4: 43,177,338 (GRCm39) |
|
probably benign |
Het |
| Usp19 |
GTGTGTGTGTGTGTGTGTGTGTGTGT |
GTGTGTGTGTGTGTGTGTGTGTGTGTGT |
9: 108,371,187 (GRCm39) |
|
unknown |
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 |
|
|
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 |
|
|
X0026:Cdc40
|
UTSW |
10 |
40,717,448 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGTCTACAAACACGCTGG -3'
(R):5'- TTCTTACCAAAGCGTTGTGC -3'
Sequencing Primer
(F):5'- TCATTTCCGATGAGAAGCAGTG -3'
(R):5'- TTGTGCGGCTCACCCAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation