Mutagenetix > Incidental Mutation

Incidental Mutation 'R0614:Cdt1'

226000

Institutional Source

Beutler Lab

Gene Symbol

Cdt1

Ensembl Gene

ENSMUSG00000006585

Gene Name

chromatin licensing and DNA replication factor 1

Synonyms

2610318F11Rik, Ris2

MMRRC Submission

038803-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0614 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

123294754-123299869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123294876 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 28 (T28A)

Ref Sequence

ENSEMBL: ENSMUSP00000006760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006760] [ENSMUST00000127664]

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: T28A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585
AA Change: T28A

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: 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: ENSMUST00000212053

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212967

Meta Mutation Damage Score

0.0833

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.9%

Validation Efficiency

97% (61/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,340,782 (GRCm39)	T137I	probably benign	Het
3110082I17Rik	C	T	5: 139,349,786 (GRCm39)	V88I	possibly damaging	Het
4930453N24Rik	T	A	16: 64,586,977 (GRCm39)	Q249L	probably damaging	Het
Ap1g2	C	T	14: 55,337,230 (GRCm39)	V702I	probably benign	Het
Armcx5	G	A	X: 134,647,564 (GRCm39)	E547K	probably damaging	Het
Asah2	C	A	19: 31,994,128 (GRCm39)	V406L	probably damaging	Het
Atp8b1	T	C	18: 64,666,658 (GRCm39)		probably benign	Het
Axl	C	A	7: 25,473,588 (GRCm39)	R346L	probably benign	Het
Baz1a	G	A	12: 54,988,304 (GRCm39)	R282*	probably null	Het
Card14	A	G	11: 119,213,653 (GRCm39)	N200S	probably benign	Het
Cep250	C	T	2: 155,812,017 (GRCm39)	Q438*	probably null	Het
Dapk1	C	A	13: 60,865,946 (GRCm39)	P181Q	probably damaging	Het
Dnah17	C	T	11: 117,961,394 (GRCm39)		probably benign	Het
Dph7	T	C	2: 24,858,968 (GRCm39)		probably null	Het
Edc4	A	T	8: 106,616,028 (GRCm39)	D801V	possibly damaging	Het
Eif4g2	A	G	7: 110,676,430 (GRCm39)		probably null	Het
Eml2	T	C	7: 18,936,516 (GRCm39)	L531P	probably damaging	Het
Ephb2	T	C	4: 136,400,676 (GRCm39)	Y533C	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fsip2	A	G	2: 82,807,877 (GRCm39)	K1399E	probably benign	Het
Hcls1	A	G	16: 36,782,987 (GRCm39)	D446G	probably damaging	Het
Hif1a	T	A	12: 73,992,405 (GRCm39)	N787K	probably damaging	Het
Ints14	T	C	9: 64,871,715 (GRCm39)	S18P	probably benign	Het
Kalrn	A	T	16: 33,814,040 (GRCm39)		probably benign	Het
Llgl2	T	A	11: 115,741,093 (GRCm39)	D502E	probably damaging	Het
Lrwd1	A	G	5: 136,152,354 (GRCm39)	V570A	probably damaging	Het
Mga	C	G	2: 119,794,947 (GRCm39)	P2877R	probably damaging	Het
Mvd	T	C	8: 123,163,292 (GRCm39)	I313V	probably benign	Het
Myo15b	C	A	11: 115,773,739 (GRCm39)	P270T	probably damaging	Het
Naip1	C	A	13: 100,580,708 (GRCm39)	V180L	probably benign	Het
Ofd1	T	C	X: 165,218,536 (GRCm39)		probably benign	Het
Or1j19	T	A	2: 36,676,705 (GRCm39)	L56H	probably damaging	Het
Or4c125	T	A	2: 89,170,329 (GRCm39)	I106F	probably damaging	Het
Or4d11	A	T	19: 12,013,929 (GRCm39)	M59K	possibly damaging	Het
Otogl	G	A	10: 107,634,216 (GRCm39)	P1420S	probably benign	Het
Pakap	C	A	4: 57,856,720 (GRCm39)	A926E	probably benign	Het
Pcnt	C	T	10: 76,256,150 (GRCm39)	V697M	probably damaging	Het
Plekha7	A	T	7: 115,753,880 (GRCm39)	Y702*	probably null	Het
Plxnb3	A	G	X: 72,807,964 (GRCm39)		probably benign	Het
Ptgis	A	G	2: 167,048,802 (GRCm39)	F405L	probably damaging	Het
Ptprk	C	T	10: 27,951,132 (GRCm39)	P19L	probably damaging	Het
Ptprt	A	G	2: 161,654,040 (GRCm39)	V530A	possibly damaging	Het
Rasgrp4	A	T	7: 28,845,276 (GRCm39)	Y299F	probably damaging	Het
Slc39a11	T	A	11: 113,414,452 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,240,213 (GRCm39)	L312*	probably null	Het
Slf1	T	A	13: 77,197,233 (GRCm39)	M794L	probably benign	Het
Sntg2	G	A	12: 30,307,977 (GRCm39)	T236I	possibly damaging	Het
Stau1	T	C	2: 166,792,726 (GRCm39)	Y413C	probably damaging	Het
Syne2	T	G	12: 75,959,127 (GRCm39)		probably null	Het
Tas2r104	A	T	6: 131,662,165 (GRCm39)	N181K	probably damaging	Het
Tmem81	G	A	1: 132,435,469 (GRCm39)	V92I	probably benign	Het
Trap1	A	G	16: 3,878,615 (GRCm39)		probably benign	Het
Trip12	T	C	1: 84,735,482 (GRCm39)	E905G	probably damaging	Het
Usp2	C	T	9: 44,003,789 (GRCm39)	R494*	probably null	Het
Vps13a	G	T	19: 16,630,058 (GRCm39)	R2692S	probably damaging	Het
Zfhx3	T	C	8: 109,675,171 (GRCm39)	S2074P	probably benign	Het
Zfhx3	C	G	8: 109,675,599 (GRCm39)	Y2216*	probably null	Het
Zfp423	A	G	8: 88,508,742 (GRCm39)	F409S	probably damaging	Het
Zfp472	G	A	17: 33,196,908 (GRCm39)	E328K	possibly damaging	Het
Zfp619	T	A	7: 39,187,099 (GRCm39)	M1043K	possibly damaging	Het
Zfp940	T	C	7: 29,545,671 (GRCm39)	I79V	probably benign	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
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
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'- GGCTTTGAGAACCTTACGCACCAC -3'
(R):5'- TACCCTCTGCCTACGTCAGCAATG -3'

Sequencing Primer
(F):5'- GGAGTCAAATAGTCTCCTGCC -3'
(R):5'- TACGTCAGCAATGCCCTG -3'

Posted On

2014-08-26