Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Cdt1'

192524

Institutional Source

Beutler Lab

Gene Symbol

Cdt1

Ensembl Gene

ENSMUSG00000006585

Gene Name

chromatin licensing and DNA replication factor 1

Synonyms

2610318F11Rik, Ris2

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123294754-123299869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123296722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 203 (Y203H)

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 damaging
Transcript: ENSMUST00000006760
AA Change: Y203H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000006760
Gene: ENSMUSG00000006585
AA Change: Y203H

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

noncoding transcript
Transcript: ENSMUST00000212053

Predicted Effect

probably benign
Transcript: ENSMUST00000212093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212834

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213030

Predicted Effect

probably benign
Transcript: ENSMUST00000213062

Predicted Effect

probably benign
Transcript: ENSMUST00000213029

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,337,363 (GRCm39)	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,454,205 (GRCm39)	F341I	probably benign	Het
Adam8	A	T	7: 139,563,224 (GRCm39)	N767K	possibly damaging	Het
Aig1	T	C	10: 13,744,366 (GRCm39)	D46G	possibly damaging	Het
Alms1	A	G	6: 85,599,862 (GRCm39)	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,789,204 (GRCm39)	I264V	probably benign	Het
Areg	T	G	5: 91,291,357 (GRCm39)	V100G	probably damaging	Het
Bcan	A	G	3: 87,896,543 (GRCm39)	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,539,200 (GRCm39)	I188N	probably damaging	Het
Cfap119	A	T	7: 127,186,028 (GRCm39)		probably null	Het
Chil3	A	C	3: 106,067,682 (GRCm39)		probably null	Het
Ciao2b	A	G	8: 105,366,718 (GRCm39)	V132A	probably damaging	Het
Cimip2c	A	G	5: 30,641,210 (GRCm39)		probably null	Het
Cth	A	G	3: 157,613,073 (GRCm39)	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,712,666 (GRCm39)	F132L	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah11	A	G	12: 118,154,603 (GRCm39)	S226P	probably damaging	Het
Egfr	A	T	11: 16,809,019 (GRCm39)	Q71L	probably benign	Het
Eml6	T	A	11: 29,696,282 (GRCm39)	K1940*	probably null	Het
Epn2	T	A	11: 61,414,014 (GRCm39)	K391*	probably null	Het
Erich1	A	T	8: 14,140,259 (GRCm39)	S2T	possibly damaging	Het
Evi5	A	C	5: 107,966,786 (GRCm39)	L245R	probably damaging	Het
Evpl	T	C	11: 116,118,414 (GRCm39)	Y731C	probably damaging	Het
Exoc3l	G	A	8: 106,021,645 (GRCm39)	H128Y	probably benign	Het
Extl1	G	A	4: 134,091,894 (GRCm39)	Q320*	probably null	Het
Fam91a1	T	A	15: 58,304,797 (GRCm39)	S416T	probably benign	Het
Fat3	A	T	9: 15,849,694 (GRCm39)	S3903T	probably damaging	Het
Fer1l4	A	G	2: 155,871,605 (GRCm39)	F1392L	probably benign	Het
Fstl4	T	C	11: 53,059,005 (GRCm39)	I488T	possibly damaging	Het
Gak	A	T	5: 108,752,243 (GRCm39)	Y338*	probably null	Het
Garin4	T	A	1: 190,896,018 (GRCm39)	E208D	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Glrb	G	A	3: 80,769,081 (GRCm39)	T180I	probably damaging	Het
Gm10118	C	T	10: 63,762,671 (GRCm39)		probably benign	Het
Gpr19	A	T	6: 134,847,192 (GRCm39)	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,811,716 (GRCm39)	N740K	probably damaging	Het
Gstk1	A	T	6: 42,223,535 (GRCm39)	T42S	probably benign	Het
Hoxd1	G	A	2: 74,594,626 (GRCm39)	A294T	probably benign	Het
Hspg2	T	A	4: 137,275,323 (GRCm39)		probably null	Het
Ift74	A	T	4: 94,573,940 (GRCm39)	N472I	probably benign	Het
Il1a	C	T	2: 129,144,813 (GRCm39)	D202N	probably damaging	Het
Islr	T	C	9: 58,064,778 (GRCm39)	D243G	probably damaging	Het
Kif21a	C	T	15: 90,843,946 (GRCm39)	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,876,852 (GRCm39)	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,075,974 (GRCm39)	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,297,416 (GRCm39)	*247Q	probably null	Het
Megf10	T	C	18: 57,410,802 (GRCm39)		probably null	Het
Mettl2	T	A	11: 105,030,544 (GRCm39)	H373Q	probably benign	Het
Mocos	A	G	18: 24,816,273 (GRCm39)	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,053,761 (GRCm39)	I115T	probably damaging	Het
Ndst1	T	C	18: 60,828,580 (GRCm39)	Y658C	probably damaging	Het
Nin	G	A	12: 70,077,712 (GRCm39)	A1031V	probably benign	Het
Nin	C	A	12: 70,092,337 (GRCm39)	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,797,713 (GRCm39)	R344*	probably null	Het
Notch2	T	C	3: 98,052,443 (GRCm39)	S1980P	probably damaging	Het
Npat	C	T	9: 53,473,960 (GRCm39)	S584L	probably benign	Het
Nphp4	A	G	4: 152,581,121 (GRCm39)	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,472,642 (GRCm39)	N51S	possibly damaging	Het
Or2n1e	A	G	17: 38,585,932 (GRCm39)	K90R	probably benign	Het
Or2y16	T	A	11: 49,335,116 (GRCm39)	I146N	possibly damaging	Het
Or5al1	T	C	2: 85,990,280 (GRCm39)	I145V	probably benign	Het
Or5w22	A	G	2: 87,362,427 (GRCm39)	T17A	probably benign	Het
Pced1b	T	A	15: 97,282,758 (GRCm39)	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,507,422 (GRCm39)	V378A	probably damaging	Het
Pde8b	T	A	13: 95,169,374 (GRCm39)	K683N	probably damaging	Het
Pfas	T	G	11: 68,888,872 (GRCm39)		probably null	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Plcd4	T	G	1: 74,587,394 (GRCm39)	S51R	probably benign	Het
Plekhh2	T	A	17: 84,884,612 (GRCm39)	Y775*	probably null	Het
Polr3a	G	A	14: 24,534,232 (GRCm39)	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,163,765 (GRCm39)	T47I	possibly damaging	Het
Pter	A	T	2: 12,999,572 (GRCm39)	D169V	probably damaging	Het
Ptpn12	A	G	5: 21,203,168 (GRCm39)	S537P	probably benign	Het
Ptpru	T	A	4: 131,506,361 (GRCm39)	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,229,350 (GRCm39)	D67E	probably damaging	Het
Rfc4	T	C	16: 22,932,983 (GRCm39)	E318G	probably benign	Het
Samd13	C	A	3: 146,368,469 (GRCm39)	R41L	probably benign	Het
Shoc1	T	C	4: 59,113,926 (GRCm39)	K13R	unknown	Het
Slc6a2	T	C	8: 93,699,440 (GRCm39)	I156T	possibly damaging	Het
Spag16	T	C	1: 70,036,015 (GRCm39)	F348L	probably benign	Het
Spag4	T	C	2: 155,907,342 (GRCm39)	Y21H	probably damaging	Het
Stam2	G	A	2: 52,593,187 (GRCm39)	A368V	possibly damaging	Het
Stc1	A	T	14: 69,275,776 (GRCm39)	M190L	probably benign	Het
Stxbp1	A	G	2: 32,690,629 (GRCm39)	L475P	probably damaging	Het
Syn3	A	T	10: 85,916,075 (GRCm39)	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,056,219 (GRCm39)	T251K	probably benign	Het
Tbpl2	A	T	2: 23,985,057 (GRCm39)	M29K	probably benign	Het
Tead3	T	G	17: 28,553,698 (GRCm39)	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 61,049,977 (GRCm39)	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400 (GRCm39)	M124T	probably benign	Het
Ttyh1	T	A	7: 4,122,695 (GRCm39)	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,020,374 (GRCm39)	W449*	probably null	Het
Txndc11	A	G	16: 10,905,639 (GRCm39)		probably null	Het
Usp24	T	A	4: 106,296,024 (GRCm39)	D2615E	probably damaging	Het
Vars1	A	G	17: 35,233,734 (GRCm39)	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,509,951 (GRCm39)	I542T	probably benign	Het
Vwf	A	G	6: 125,620,032 (GRCm39)	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,662,863 (GRCm39)	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,406,115 (GRCm39)	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,268,879 (GRCm39)	T179I	probably damaging	Het
Zfp599	T	C	9: 22,161,700 (GRCm39)	Y155C	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
R0614:Cdt1	UTSW	8	123,294,876 (GRCm39)	missense	probably benign	0.04
R0645:Cdt1	UTSW	8	123,298,884 (GRCm39)	unclassified	probably benign
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'- AAGTACTGTGAACCCCTGTGCCTG -3'
(R):5'- ACATTGCGCTCTTCAAAGCGCC -3'

Sequencing Primer
(F):5'- CTGCCCTCAGGTAGCATTAG -3'
(R):5'- CAGAATGAGAGGGACCAGGC -3'

Posted On

2014-05-14