Incidental Mutation 'R4243:Cdt1'
| ID |
320303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdt1
|
| Ensembl Gene |
ENSMUSG00000006585 |
| Gene Name |
chromatin licensing and DNA replication factor 1 |
| Synonyms |
2610318F11Rik, Ris2 |
| MMRRC Submission |
041643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R4243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
123294754-123299869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 123298157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 383
(M383V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006760]
[ENSMUST00000006764]
[ENSMUST00000127664]
[ENSMUST00000211823]
[ENSMUST00000212093]
[ENSMUST00000213062]
[ENSMUST00000213029]
|
| AlphaFold |
Q8R4E9 |
| PDB Structure |
Structure of the Cdt1 C-terminal domain [SOLUTION NMR]
Structure of C-terminal region of Cdt1 [SOLUTION NMR]
Crystal structure of Cdt1/geminin complex [X-RAY DIFFRACTION]
Crystal structure of cdt1 C terminal domain [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006760
AA Change: M383V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585
AA Change: M383V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
108 |
N/A |
INTRINSIC |
|
CDT1
|
199 |
362 |
3.68e-91 |
SMART |
|
low complexity region
|
401 |
427 |
N/A |
INTRINSIC |
|
Pfam:CDT1_C
|
431 |
525 |
1.4e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006764
|
| SMART Domains |
Protein: ENSMUSP00000006764
Gene: ENSMUSG00000006589
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pribosyltran
|
28 |
178 |
2.3e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212053
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213030
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212834
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213017
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212967
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212821
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the formation of the pre-replication complex that is necessary for DNA replication. The encoded protein can bind geminin, which prevents replication and may function to prevent this protein from initiating replication at inappropriate origins. Phosphorylation of this protein by cyclin A-dependent kinases results in degradation of the protein. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a small in-frame deletion in exon 2 are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
C |
A |
5: 114,951,855 (GRCm39) |
R40L |
possibly damaging |
Het |
| 4930449A18Rik |
T |
A |
3: 59,733,203 (GRCm39) |
|
noncoding transcript |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| 4933409G03Rik |
C |
T |
2: 68,423,887 (GRCm39) |
|
probably benign |
Het |
| Actr1b |
T |
C |
1: 36,740,911 (GRCm39) |
Y171C |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,834,386 (GRCm39) |
T32A |
probably benign |
Het |
| Cdh13 |
T |
A |
8: 119,968,996 (GRCm39) |
V451E |
probably damaging |
Het |
| Cdh20 |
C |
T |
1: 104,869,868 (GRCm39) |
T196I |
probably damaging |
Het |
| Chrna9 |
T |
C |
5: 66,092,379 (GRCm39) |
|
probably null |
Het |
| Cpne9 |
C |
T |
6: 113,259,984 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,795,141 (GRCm39) |
S959P |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,600,583 (GRCm39) |
I647T |
probably benign |
Het |
| Cyld |
A |
T |
8: 89,457,383 (GRCm39) |
R536* |
probably null |
Het |
| Ddx1 |
A |
T |
12: 13,290,910 (GRCm39) |
C68* |
probably null |
Het |
| Dock10 |
T |
A |
1: 80,544,472 (GRCm39) |
E905V |
probably benign |
Het |
| Dynlt1b |
T |
C |
17: 6,697,639 (GRCm39) |
|
probably null |
Het |
| Faxc |
G |
A |
4: 21,982,491 (GRCm39) |
R310Q |
probably benign |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Frmd5 |
C |
A |
2: 121,393,363 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
C |
A |
10: 86,492,144 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa12b |
C |
T |
2: 130,983,778 (GRCm39) |
H293Y |
possibly damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,710,501 (GRCm39) |
V234A |
probably benign |
Het |
| Jkamp |
G |
A |
12: 72,140,799 (GRCm39) |
V108I |
probably benign |
Het |
| Mettl23 |
T |
C |
11: 116,739,126 (GRCm39) |
V72A |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,355,375 (GRCm39) |
Y799F |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,075,393 (GRCm39) |
C358S |
probably damaging |
Het |
| Myo18b |
G |
A |
5: 112,840,261 (GRCm39) |
H2511Y |
possibly damaging |
Het |
| Mysm1 |
A |
G |
4: 94,857,248 (GRCm39) |
V120A |
probably benign |
Het |
| Nhlrc1 |
C |
T |
13: 47,167,502 (GRCm39) |
V252I |
probably benign |
Het |
| Or12j3 |
G |
A |
7: 139,952,857 (GRCm39) |
A222V |
probably benign |
Het |
| Or2ak6 |
T |
G |
11: 58,593,277 (GRCm39) |
L250R |
probably damaging |
Het |
| Or7g35 |
C |
A |
9: 19,495,854 (GRCm39) |
T7K |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,098,128 (GRCm39) |
A390T |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,796,605 (GRCm39) |
D536E |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,924,982 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,526,339 (GRCm39) |
N413D |
possibly damaging |
Het |
| Ppp1r12b |
T |
G |
1: 134,709,846 (GRCm39) |
|
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,083,649 (GRCm39) |
|
probably null |
Het |
| Rab3gap1 |
T |
C |
1: 127,865,304 (GRCm39) |
|
probably null |
Het |
| Rasa1 |
A |
G |
13: 85,392,314 (GRCm39) |
Y407H |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,499,051 (GRCm39) |
T72A |
possibly damaging |
Het |
| Slc27a1 |
A |
G |
8: 72,037,617 (GRCm39) |
T535A |
probably benign |
Het |
| Stra6 |
G |
A |
9: 58,050,309 (GRCm39) |
A237T |
probably benign |
Het |
| Tor1aip2 |
A |
G |
1: 155,941,182 (GRCm39) |
E496G |
probably damaging |
Het |
| Usp47 |
A |
G |
7: 111,707,836 (GRCm39) |
D1294G |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,187 (GRCm39) |
|
probably null |
Het |
| Vmn1r79 |
T |
A |
7: 11,910,971 (GRCm39) |
C284* |
probably null |
Het |
| Zar1 |
T |
C |
5: 72,737,736 (GRCm39) |
E121G |
possibly damaging |
Het |
| Zbtb40 |
C |
T |
4: 136,745,860 (GRCm39) |
A58T |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,518,952 (GRCm39) |
T25A |
probably damaging |
Het |
|
| Other mutations in Cdt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB001:Cdt1
|
UTSW |
8 |
123,296,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB011:Cdt1
|
UTSW |
8 |
123,296,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0014:Cdt1
|
UTSW |
8 |
123,299,305 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0494:Cdt1
|
UTSW |
8 |
123,298,799 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0614:Cdt1
|
UTSW |
8 |
123,294,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0645:Cdt1
|
UTSW |
8 |
123,298,884 (GRCm39) |
unclassified |
probably benign |
|
|
R1699:Cdt1
|
UTSW |
8 |
123,296,722 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1889:Cdt1
|
UTSW |
8 |
123,298,791 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3114:Cdt1
|
UTSW |
8 |
123,297,221 (GRCm39) |
nonsense |
probably null |
|
|
R4532:Cdt1
|
UTSW |
8 |
123,298,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5496:Cdt1
|
UTSW |
8 |
123,297,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5498:Cdt1
|
UTSW |
8 |
123,297,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5501:Cdt1
|
UTSW |
8 |
123,297,239 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5523:Cdt1
|
UTSW |
8 |
123,294,832 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5647:Cdt1
|
UTSW |
8 |
123,296,947 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6160:Cdt1
|
UTSW |
8 |
123,298,107 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6892:Cdt1
|
UTSW |
8 |
123,296,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Cdt1
|
UTSW |
8 |
123,299,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Cdt1
|
UTSW |
8 |
123,298,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Cdt1
|
UTSW |
8 |
123,295,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7583:Cdt1
|
UTSW |
8 |
123,296,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7924:Cdt1
|
UTSW |
8 |
123,296,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7976:Cdt1
|
UTSW |
8 |
123,298,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8116:Cdt1
|
UTSW |
8 |
123,298,728 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8236:Cdt1
|
UTSW |
8 |
123,298,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Cdt1
|
UTSW |
8 |
123,296,070 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCTTCCTGGCTTCACTG -3'
(R):5'- TCGTGAAGGCTGCTCTTTGC -3'
Sequencing Primer
(F):5'- GGCTTCACTGAACCCCC -3'
(R):5'- TCTTTGCATAGCCCCACCAGAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation