Mutagenetix > Incidental Mutation

Incidental Mutation 'R8116:Cdt1'

631205

Institutional Source

Beutler Lab

Gene Symbol

Cdt1

Ensembl Gene

ENSMUSG00000006585

Gene Name

chromatin licensing and DNA replication factor 1

Synonyms

2610318F11Rik, Ris2

MMRRC Submission

067545-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123294754-123299869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123298728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 455 (E455G)

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 benign
Transcript: ENSMUST00000006760
AA Change: E455G

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585
AA Change: E455G

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.9%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,982,420 (GRCm39)	N7K	probably benign	Het
Akap9	T	A	5: 4,111,183 (GRCm39)	D3081E	probably benign	Het
Amer2	G	A	14: 60,616,854 (GRCm39)	A350T	probably damaging	Het
Amotl1	A	G	9: 14,466,868 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,752,995 (GRCm39)	V651E	probably damaging	Het
Aox1	T	C	1: 58,115,283 (GRCm39)	V756A	probably damaging	Het
Arap2	A	C	5: 62,887,954 (GRCm39)	I464S	probably benign	Het
Atp8a2	A	C	14: 60,263,657 (GRCm39)	M359R	probably damaging	Het
Aunip	T	C	4: 134,250,618 (GRCm39)	S188P	possibly damaging	Het
Cyp2r1	G	T	7: 114,149,590 (GRCm39)	H475N	probably benign	Het
Dnah7a	G	T	1: 53,543,049 (GRCm39)	H2374N	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Dst	G	A	1: 34,313,261 (GRCm39)	A4343T	probably benign	Het
Efcab3	A	G	11: 105,002,677 (GRCm39)	D304G	possibly damaging	Het
Efcc1	T	C	6: 87,728,772 (GRCm39)	L409P	probably damaging	Het
Eno1	G	T	4: 150,325,526 (GRCm39)	S37I	probably damaging	Het
Ermp1	A	T	19: 29,601,196 (GRCm39)	L517Q	probably damaging	Het
Farp1	T	G	14: 121,471,232 (GRCm39)	I196S	probably damaging	Het
Fbxo21	A	G	5: 118,128,919 (GRCm39)	T310A	possibly damaging	Het
Fbxo31	C	T	8: 122,287,127 (GRCm39)	V149M	probably damaging	Het
Ggcx	C	A	6: 72,406,511 (GRCm39)	T658N	possibly damaging	Het
Gpc5	A	C	14: 115,636,637 (GRCm39)	H440P	probably damaging	Het
H13	C	T	2: 152,537,446 (GRCm39)	A297V	probably damaging	Het
H2-DMb1	T	A	17: 34,374,443 (GRCm39)	L31Q	probably damaging	Het
Ifi207	G	A	1: 173,557,746 (GRCm39)	P331S	unknown	Het
Il11ra1	G	T	4: 41,766,251 (GRCm39)	A263S	probably benign	Het
Il1a	C	A	2: 129,144,864 (GRCm39)	V185F	probably damaging	Het
Ippk	C	T	13: 49,599,818 (GRCm39)	P226S		Het
Kdm4d	T	A	9: 14,375,237 (GRCm39)	K207M	probably damaging	Het
Lrrc37	A	T	11: 103,434,115 (GRCm39)	M3018K	unknown	Het
Lrrc4b	T	C	7: 44,110,533 (GRCm39)	L135P	probably damaging	Het
Lrrk1	A	G	7: 65,912,371 (GRCm39)	Y1730H	possibly damaging	Het
Mcpt2	C	A	14: 56,279,663 (GRCm39)	A18D	probably damaging	Het
Mtmr4	C	T	11: 87,502,756 (GRCm39)	R937*	probably null	Het
Muc16	T	A	9: 18,570,033 (GRCm39)	T829S	unknown	Het
Myof	A	C	19: 37,921,167 (GRCm39)	I1365S	probably damaging	Het
Npc2	C	T	12: 84,807,612 (GRCm39)	R82Q	probably benign	Het
Or10ag2	T	A	2: 87,249,081 (GRCm39)	S228T	probably damaging	Het
Or10d1c	A	T	9: 38,894,169 (GRCm39)	M57K	probably damaging	Het
Or10j2	T	A	1: 173,098,047 (GRCm39)	F102I	possibly damaging	Het
Or2g25	G	A	17: 37,970,631 (GRCm39)	L198F	probably damaging	Het
Or4k45	T	C	2: 111,395,783 (GRCm39)	D2G	probably benign	Het
Or8b3b	A	T	9: 38,584,464 (GRCm39)	I92N	possibly damaging	Het
Or8d2b	T	A	9: 38,789,026 (GRCm39)	S185T	probably damaging	Het
Pdzph1	T	C	17: 59,282,138 (GRCm39)	N48S	probably benign	Het
Plce1	A	T	19: 38,513,262 (GRCm39)	H187L	probably benign	Het
Pramel6	G	T	2: 87,338,808 (GRCm39)	V3F	probably benign	Het
Prr5l	CCTCGCTCGCTCGCTCGC	CCTCGCTCGCTCGC	2: 101,627,919 (GRCm39)		probably null	Het
Pwwp3a	G	A	10: 80,076,231 (GRCm39)	G474S	probably damaging	Het
Rabgap1l	A	G	1: 160,530,012 (GRCm39)	Y358H	probably benign	Het
Rbbp8	T	C	18: 11,855,727 (GRCm39)	S625P	probably damaging	Het
Rhot1	A	T	11: 80,141,879 (GRCm39)	K461I	probably benign	Het
Rpa1	G	A	11: 75,193,501 (GRCm39)	T610I	possibly damaging	Het
Ryr1	G	T	7: 28,810,308 (GRCm39)	H316N	probably benign	Het
Shprh	T	C	10: 11,089,205 (GRCm39)	S1648P	probably damaging	Het
Sipa1	A	T	19: 5,702,140 (GRCm39)	D923E	possibly damaging	Het
Spata6	A	G	4: 111,685,517 (GRCm39)	Y474C	possibly damaging	Het
Sptbn1	A	T	11: 30,089,117 (GRCm39)	I715N	probably damaging	Het
Stab1	A	T	14: 30,880,910 (GRCm39)	D627E	possibly damaging	Het
Stard9	T	A	2: 120,495,420 (GRCm39)	C98*	probably null	Het
Tfpi2	T	C	6: 3,963,872 (GRCm39)	T187A	probably damaging	Het
Tmem63a	G	T	1: 180,788,048 (GRCm39)	K267N	probably benign	Het
Topaz1	C	T	9: 122,604,708 (GRCm39)	A1104V	probably benign	Het
Trmt11	A	G	10: 30,442,490 (GRCm39)	I231T	possibly damaging	Het
Utp15	G	A	13: 98,387,371 (GRCm39)	T401I	probably benign	Het
Vmn2r13	T	C	5: 109,322,926 (GRCm39)	K121R	probably benign	Het
Xab2	C	T	8: 3,663,830 (GRCm39)	R363H	probably damaging	Het
Zfand2b	T	A	1: 75,145,504 (GRCm39)	F3L	possibly damaging	Het
Zfyve28	A	T	5: 34,374,944 (GRCm39)	S357T	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
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'- TTGTGACCTCTGACCTGTGC -3'
(R):5'- TGTTTTGCTTTGCACAAACCTG -3'

Sequencing Primer
(F):5'- CCTACCCTGCAGATGGAGAAG -3'
(R):5'- ACCTGGACTCAGAGCAGTTTG -3'

Posted On

2020-06-30