Incidental Mutation 'R2919:Cdc45'
| ID |
255448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc45
|
| Ensembl Gene |
ENSMUSG00000000028 |
| Gene Name |
cell division cycle 45 |
| Synonyms |
Cdc45l |
| MMRRC Submission |
040504-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2919 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
18599197-18630737 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18627543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 94
(I94T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000028]
[ENSMUST00000005394]
[ENSMUST00000096990]
[ENSMUST00000115578]
[ENSMUST00000115585]
[ENSMUST00000163695]
[ENSMUST00000168822]
[ENSMUST00000171789]
[ENSMUST00000172013]
|
| AlphaFold |
Q9Z1X9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000028
AA Change: I94T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000000028
Gene: ENSMUSG00000000028
AA Change: I94T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC45
|
19 |
564 |
1.6e-152 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005394
|
| SMART Domains |
Protein: ENSMUSP00000005394
Gene: ENSMUSG00000005262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFD1
|
18 |
194 |
2.1e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096990
|
| SMART Domains |
Protein: ENSMUSP00000094753
Gene: ENSMUSG00000000028
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC45
|
18 |
74 |
7.9e-24 |
PFAM |
|
Pfam:CDC45
|
73 |
520 |
4.5e-138 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115578
|
| SMART Domains |
Protein: ENSMUSP00000111241
Gene: ENSMUSG00000005262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFD1
|
19 |
194 |
6.1e-83 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115585
AA Change: I94T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111248
Gene: ENSMUSG00000000028
AA Change: I94T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDC45
|
18 |
136 |
5.7e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163695
|
| SMART Domains |
Protein: ENSMUSP00000132341
Gene: ENSMUSG00000005262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UFD1
|
18 |
70 |
3.6e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164795
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172013
|
| SMART Domains |
Protein: ENSMUSP00000128186
Gene: ENSMUSG00000005262
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YUJ|A
|
11 |
36 |
2e-12 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231819
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutant embryos do not develop after implantation, resulting in embryonic lethality between E4.5-E5.5. Heterozygous animals appear normal and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
C |
T |
5: 146,122,001 (GRCm39) |
R27H |
probably benign |
Het |
| 2310002L09Rik |
A |
T |
4: 73,868,845 (GRCm39) |
L31Q |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,064,406 (GRCm39) |
D53N |
probably damaging |
Het |
| Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
| Als2cl |
A |
T |
9: 110,726,567 (GRCm39) |
|
probably null |
Het |
| Atg9b |
T |
A |
5: 24,596,542 (GRCm39) |
T125S |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,645,343 (GRCm39) |
D1472G |
probably damaging |
Het |
| Cd1d2 |
C |
G |
3: 86,894,987 (GRCm39) |
P158A |
probably damaging |
Het |
| Chd6 |
T |
G |
2: 160,809,800 (GRCm39) |
D1487A |
possibly damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,947 (GRCm39) |
Y340C |
probably damaging |
Het |
| Fbxl12 |
C |
T |
9: 20,553,509 (GRCm39) |
R26H |
probably damaging |
Het |
| Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,021 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
| Inpp4b |
C |
A |
8: 82,711,958 (GRCm39) |
A425E |
possibly damaging |
Het |
| Kif1a |
A |
G |
1: 92,974,464 (GRCm39) |
Y964H |
probably damaging |
Het |
| Lrp1b |
A |
C |
2: 41,660,911 (GRCm39) |
C66G |
probably damaging |
Het |
| Lrp4 |
A |
G |
2: 91,321,075 (GRCm39) |
I1034V |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mmrn2 |
T |
C |
14: 34,124,879 (GRCm39) |
V820A |
possibly damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
| Mroh9 |
A |
C |
1: 162,884,341 (GRCm39) |
M399R |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| N4bp2 |
G |
A |
5: 65,964,441 (GRCm39) |
G830D |
probably benign |
Het |
| Nagpa |
G |
A |
16: 5,021,651 (GRCm39) |
|
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,979,067 (GRCm39) |
V111M |
probably damaging |
Het |
| Or5g23 |
G |
A |
2: 85,438,754 (GRCm39) |
P167S |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,260,221 (GRCm39) |
|
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,350,924 (GRCm39) |
R323W |
possibly damaging |
Het |
| Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,643,279 (GRCm39) |
G513D |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,112,108 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,582 (GRCm39) |
E1419G |
unknown |
Het |
| Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
| Sgk2 |
T |
G |
2: 162,841,115 (GRCm39) |
L175R |
probably damaging |
Het |
| Sgk2 |
C |
A |
2: 162,841,125 (GRCm39) |
F178L |
probably damaging |
Het |
| Sim1 |
T |
C |
10: 50,785,911 (GRCm39) |
Y255H |
probably benign |
Het |
| Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
| Slc38a3 |
A |
T |
9: 107,534,886 (GRCm39) |
I163N |
probably damaging |
Het |
| Slc39a4 |
A |
G |
15: 76,500,870 (GRCm39) |
L31P |
probably damaging |
Het |
| Slc5a11 |
GGTGC |
G |
7: 122,838,595 (GRCm39) |
|
probably null |
Het |
| Slfnl1 |
G |
T |
4: 120,390,275 (GRCm39) |
|
probably benign |
Het |
| Stradb |
G |
A |
1: 59,031,828 (GRCm39) |
V247M |
probably benign |
Het |
| Styk1 |
T |
A |
6: 131,289,967 (GRCm39) |
|
probably benign |
Het |
| Sult1d1 |
A |
G |
5: 87,707,614 (GRCm39) |
|
probably benign |
Het |
| Syk |
C |
T |
13: 52,765,157 (GRCm39) |
P95S |
probably benign |
Het |
| Taar2 |
T |
A |
10: 23,817,454 (GRCm39) |
N331K |
probably benign |
Het |
| Thsd7b |
A |
G |
1: 130,117,587 (GRCm39) |
|
probably benign |
Het |
| Tmbim7 |
G |
A |
5: 3,723,188 (GRCm39) |
|
probably null |
Het |
| Tmem107 |
T |
C |
11: 68,962,247 (GRCm39) |
L68P |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,331,276 (GRCm39) |
C158S |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,988,548 (GRCm39) |
I310T |
probably benign |
Het |
| Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
| Xirp1 |
T |
C |
9: 119,847,767 (GRCm39) |
E372G |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,790 (GRCm39) |
E198G |
probably damaging |
Het |
| Zfp804a |
A |
G |
2: 82,066,160 (GRCm39) |
N44D |
probably damaging |
Het |
|
| Other mutations in Cdc45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01528:Cdc45
|
APN |
16 |
18,630,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01677:Cdc45
|
APN |
16 |
18,605,750 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02079:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02080:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02105:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02106:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02237:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02238:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02239:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02371:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02441:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02442:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02465:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02466:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02468:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02469:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02470:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02471:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02472:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02473:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02489:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02490:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02491:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02492:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02511:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02558:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02559:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02560:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02561:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02562:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02566:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02567:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02576:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02583:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02589:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02626:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02627:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02628:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02629:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02687:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02688:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02689:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02720:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02724:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02731:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02738:Cdc45
|
APN |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02991:Cdc45
|
UTSW |
16 |
18,617,479 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0051:Cdc45
|
UTSW |
16 |
18,613,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0051:Cdc45
|
UTSW |
16 |
18,613,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Cdc45
|
UTSW |
16 |
18,600,722 (GRCm39) |
splice site |
probably benign |
|
|
R1398:Cdc45
|
UTSW |
16 |
18,600,721 (GRCm39) |
splice site |
probably benign |
|
|
R1413:Cdc45
|
UTSW |
16 |
18,627,491 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1792:Cdc45
|
UTSW |
16 |
18,626,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3956:Cdc45
|
UTSW |
16 |
18,624,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4079:Cdc45
|
UTSW |
16 |
18,630,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4825:Cdc45
|
UTSW |
16 |
18,603,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5028:Cdc45
|
UTSW |
16 |
18,613,930 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5214:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5309:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5311:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5312:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5352:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5353:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5355:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Cdc45
|
UTSW |
16 |
18,614,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Cdc45
|
UTSW |
16 |
18,626,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6174:Cdc45
|
UTSW |
16 |
18,613,454 (GRCm39) |
splice site |
probably null |
|
|
R6796:Cdc45
|
UTSW |
16 |
18,603,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Cdc45
|
UTSW |
16 |
18,629,203 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8519:Cdc45
|
UTSW |
16 |
18,627,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Cdc45
|
UTSW |
16 |
18,630,300 (GRCm39) |
missense |
probably benign |
|
|
R9221:Cdc45
|
UTSW |
16 |
18,605,521 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGCGTCCTGTACTGAAGATG -3'
(R):5'- AAGCCACTTAGCATTCCTCC -3'
Sequencing Primer
(F):5'- TGTACTGAAGATGCCCCCAG -3'
(R):5'- CCTTGCCATAATGTGCTCAATGGAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation