Mutagenetix > Incidental Mutation

Incidental Mutation 'R8236:Cdt1'

637364

Institutional Source

Beutler Lab

Gene Symbol

Cdt1

Ensembl Gene

ENSMUSG00000006585

Gene Name

chromatin licensing and DNA replication factor 1

Synonyms

2610318F11Rik, Ris2

MMRRC Submission

067668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R8236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123294754-123299869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123298767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 468 (E468G)

Ref Sequence

ENSEMBL: ENSMUSP00000006760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006760] [ENSMUST00000006764] [ENSMUST00000127664] [ENSMUST00000211823] [ENSMUST00000212093] [ENSMUST00000213029] [ENSMUST00000213062]

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 damaging
Transcript: ENSMUST00000006760
AA Change: E468G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585
AA Change: E468G

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

probably benign
Transcript: ENSMUST00000211823

Predicted Effect

probably benign
Transcript: ENSMUST00000212093

Predicted Effect

probably benign
Transcript: ENSMUST00000213029

Predicted Effect

probably benign
Transcript: ENSMUST00000213062

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (59/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	T	1: 85,974,115 (GRCm39)	A144V	possibly damaging	Het
Actr8	A	G	14: 29,704,585 (GRCm39)	I51M	probably damaging	Het
Afm	A	T	5: 90,671,747 (GRCm39)	D143V	probably damaging	Het
Ankfy1	T	A	11: 72,645,181 (GRCm39)	S753R	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Bicdl1	T	C	5: 115,787,618 (GRCm39)	H527R	probably benign	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Brip1	C	A	11: 86,029,938 (GRCm39)	D569Y	probably damaging	Het
Cab39	T	C	1: 85,776,092 (GRCm39)	L263P	probably damaging	Het
Cblb	C	A	16: 51,986,392 (GRCm39)	P545Q	possibly damaging	Het
Cdk5rap2	G	T	4: 70,160,722 (GRCm39)	P1579Q	probably benign	Het
Col28a1	A	G	6: 8,097,024 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,548,796 (GRCm39)	I166T	possibly damaging	Het
Ctnnd2	G	A	15: 30,647,164 (GRCm39)	A287T	probably benign	Het
Dcc	C	T	18: 72,088,089 (GRCm39)	V50I	probably benign	Het
Defb30	A	T	14: 63,287,216 (GRCm39)	M19K	unknown	Het
Dync2h1	C	A	9: 7,080,363 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,618,905 (GRCm39)	T1291A	possibly damaging	Het
Epyc	A	T	10: 97,517,067 (GRCm39)	N302Y	probably damaging	Het
Espn	G	A	4: 152,233,487 (GRCm39)	T106I	probably damaging	Het
Fam135a	T	C	1: 24,059,729 (GRCm39)		probably null	Het
Fam171b	G	A	2: 83,710,550 (GRCm39)	E741K	probably damaging	Het
Fgfr1	G	T	8: 26,052,288 (GRCm39)	E205*	probably null	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Gdpd3	A	G	7: 126,367,838 (GRCm39)	K224E	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm43518	C	T	5: 124,072,285 (GRCm39)	Q17*	probably null	Het
Gm4353	T	C	7: 115,682,618 (GRCm39)	Y321C	probably damaging	Het
Gphn	A	G	12: 78,711,311 (GRCm39)	H631R	probably damaging	Het
Hook1	T	A	4: 95,903,042 (GRCm39)		probably null	Het
Il9	T	A	13: 56,630,058 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,292,281 (GRCm39)		probably null	Het
Lhcgr	A	T	17: 89,050,014 (GRCm39)	L504*	probably null	Het
Mical3	A	G	6: 120,989,504 (GRCm39)	V272A		Het
Mup10	A	G	4: 60,537,562 (GRCm39)	I63T	probably damaging	Het
Mxi1	C	G	19: 53,358,029 (GRCm39)	P165R	probably damaging	Het
Nanog	A	T	6: 122,690,131 (GRCm39)	I179F	probably benign	Het
Or5w14	T	A	2: 87,542,104 (GRCm39)	I49F	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pip	A	G	6: 41,824,596 (GRCm39)	D28G	probably damaging	Het
Ppp2r3d	T	C	9: 124,440,067 (GRCm38)	H53R		Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Ptpn4	A	G	1: 119,606,552 (GRCm39)	V781A	possibly damaging	Het
Ptprt	C	T	2: 161,528,988 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,531,695 (GRCm39)	S141P	probably damaging	Het
Slc2a1	G	C	4: 118,990,454 (GRCm39)	S226T	probably benign	Het
Smyd3	A	C	1: 179,233,205 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,712 (GRCm39)	E1015G	probably benign	Het
Sult1b1	G	T	5: 87,669,383 (GRCm39)	T155N	probably damaging	Het
Tcam1	A	G	11: 106,177,243 (GRCm39)	I412V	probably benign	Het
Tet2	G	A	3: 133,193,547 (GRCm39)	P296S	probably benign	Het
Tmem30c	T	C	16: 57,096,542 (GRCm39)	D193G	probably null	Het
Trem2	G	T	17: 48,658,934 (GRCm39)	W233L	probably benign	Het
Trpm3	C	A	19: 22,964,772 (GRCm39)	D1422E	probably benign	Het
Ttbk1	T	G	17: 46,781,655 (GRCm39)	D366A	probably damaging	Het
Ttyh1	G	A	7: 4,128,547 (GRCm39)	G148D	probably benign	Het
Ubr2	T	C	17: 47,262,835 (GRCm39)	M1259V	probably benign	Het
Zfp608	T	A	18: 55,032,281 (GRCm39)	D553V	probably damaging	Het
Zkscan2	A	G	7: 123,079,135 (GRCm39)	S941P	probably benign	Het
Zranb1	T	C	7: 132,551,393 (GRCm39)	Y15H	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
R4243:Cdt1	UTSW	8	123,298,157 (GRCm39)	missense	probably benign	0.04
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
R8436:Cdt1	UTSW	8	123,296,070 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGTGTCCCAAGCACTGCTAG -3'
(R):5'- GTCAGAAATAGACCTAGCTCCTTG -3'

Sequencing Primer
(F):5'- CTGCTAGAGCGGGTGAGTC -3'
(R):5'- TAGACCTAGCTCCTTGCCAAG -3'

Posted On

2020-07-13