Mutagenetix > Incidental Mutation

Incidental Mutation 'R0551:Cdc5l'

45203

Institutional Source

Beutler Lab

Gene Symbol

Cdc5l

Ensembl Gene

ENSMUSG00000023932

Gene Name

cell division cycle 5-like (S. pombe)

Synonyms

PCDC5RP, 1200002I02Rik

MMRRC Submission

038743-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R0551 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

45391892-45433707 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45415684 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 321 (R321W)

Ref Sequence

ENSEMBL: ENSMUSP00000024727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024727]

AlphaFold

Q6A068

Predicted Effect

probably damaging
Transcript: ENSMUST00000024727
AA Change: R321W

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

SMART Domains

Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: R321W

Domain	Start	End	E-Value	Type
SANT	7	56	4.41e-15	SMART
SANT	59	106	6.29e-11	SMART
coiled coil region	150	181	N/A	INTRINSIC
Blast:SANT	187	233	5e-23	BLAST
low complexity region	258	271	N/A	INTRINSIC
Pfam:Myb_Cef	404	655	3.1e-85	PFAM
low complexity region	706	718	N/A	INTRINSIC
coiled coil region	764	802	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.1%

Validation Efficiency

99% (77/78)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares a significant similarity with Schizosaccharomyces pombe cdc5 gene product, which is a cell cycle regulator important for G2/M transition. This protein has been demonstrated to act as a positive regulator of cell cycle G2/M progression. It was also found to be an essential component of a non-snRNA spliceosome, which contains at least five additional protein factors and is required for the second catalytic step of pre-mRNA splicing. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,662,641	T456S	probably benign	Het
5830473C10Rik	C	T	5: 90,572,719	P250S	probably damaging	Het
Acmsd	A	T	1: 127,766,333	K333N	probably benign	Het
Adcy2	T	A	13: 68,796,539	K241N	probably damaging	Het
Aebp1	A	G	11: 5,867,955	I77V	probably benign	Het
Ankrd35	A	G	3: 96,683,960	T521A	probably benign	Het
Arap2	C	T	5: 62,641,323		probably null	Het
Arfgap3	A	T	15: 83,343,137	C25S	probably damaging	Het
Arhgap20	T	A	9: 51,825,825		probably benign	Het
Arhgap39	C	T	15: 76,734,886	D833N	probably damaging	Het
Auts2	T	C	5: 131,440,469	E446G	possibly damaging	Het
Brwd1	C	T	16: 96,035,974	R886H	probably damaging	Het
Carm1	G	A	9: 21,580,491		probably null	Het
Cfap54	A	T	10: 93,025,122	M841K	probably benign	Het
Clca4b	T	A	3: 144,928,626	T69S	probably damaging	Het
Cpox	A	G	16: 58,675,390	I357V	probably benign	Het
Diaph3	C	A	14: 86,910,100	V711L	probably benign	Het
Fabp3-ps1	T	C	10: 86,732,040		probably benign	Het
Fam120b	A	T	17: 15,431,643		probably benign	Het
Fcho1	A	G	8: 71,712,174	S488P	probably benign	Het
Flcn	A	G	11: 59,795,748		probably null	Het
Flt3l	A	G	7: 45,132,266	W234R	probably damaging	Het
Fzd7	G	T	1: 59,483,284	V109L	probably damaging	Het
G3bp1	A	G	11: 55,489,143	N101S	probably benign	Het
Gadd45g	A	G	13: 51,847,927	E143G	probably damaging	Het
Ganab	T	G	19: 8,907,280	I149S	probably benign	Het
Garnl3	A	G	2: 33,016,738	S413P	probably damaging	Het
Glis1	C	T	4: 107,568,119		probably null	Het
Gm11563	A	G	11: 99,658,713	S72P	unknown	Het
Gpd1	T	G	15: 99,720,629	I188S	possibly damaging	Het
Gria2	A	G	3: 80,732,026		probably benign	Het
H2afy2	A	G	10: 61,741,166	S308P	probably damaging	Het
Hpcal4	G	T	4: 123,189,055	A65S	possibly damaging	Het
Igsf10	G	A	3: 59,328,668	T1364I	probably benign	Het
Kdm4a	T	C	4: 118,138,231	*1065W	probably null	Het
Klkb1	A	G	8: 45,277,966		probably null	Het
Lipo3	T	C	19: 33,580,551	D147G	probably damaging	Het
Lrp1	A	G	10: 127,571,958	S1821P	probably benign	Het
Manba	T	C	3: 135,517,973	I207T	probably damaging	Het
Mark3	T	A	12: 111,633,634	S428T	probably benign	Het
Mfsd4a	G	A	1: 132,041,919	T348I	probably damaging	Het
Mfsd7a	A	G	5: 108,444,465		probably benign	Het
Mybbp1a	A	G	11: 72,448,376	M880V	probably benign	Het
N4bp2	T	A	5: 65,820,341		probably null	Het
Nrd1	T	G	4: 109,047,708	I712S	probably damaging	Het
Nup210	G	A	6: 91,021,484	R774C	possibly damaging	Het
Obscn	G	A	11: 59,107,862	R1395*	probably null	Het
Olfr1454	T	A	19: 13,064,294	D294E	probably benign	Het
Pcdh7	T	C	5: 57,721,994	Y964H	probably damaging	Het
Plin4	T	C	17: 56,106,756	T290A	probably benign	Het
Ppara	T	C	15: 85,787,105		probably benign	Het
Psg21	T	G	7: 18,652,640		probably null	Het
Ptar1	C	A	19: 23,720,340	N405K	probably benign	Het
Ralgps2	A	G	1: 156,832,663		probably null	Het
Rnf6	T	A	5: 146,211,395	N271I	possibly damaging	Het
Sis	T	C	3: 72,925,407	D1019G	possibly damaging	Het
Slc37a3	A	G	6: 39,352,754		probably benign	Het
Slc6a12	G	A	6: 121,356,918	V238I	probably damaging	Het
Sntg1	C	A	1: 8,554,736	V279L	possibly damaging	Het
Sorbs1	T	A	19: 40,311,816	E567D	probably damaging	Het
Sp110	C	A	1: 85,589,100		probably benign	Het
Ssu2	A	G	6: 112,380,554	V175A	possibly damaging	Het
Stk36	G	A	1: 74,616,621	E428K	probably benign	Het
Teddm1b	A	T	1: 153,875,344	I300F	possibly damaging	Het
Thy1	T	C	9: 44,047,348	V129A	probably damaging	Het
Tiam2	T	A	17: 3,428,954	M654K	probably damaging	Het
Tmem69	T	C	4: 116,553,273	S167G	probably benign	Het
Tmem8	C	A	17: 26,120,602	Q605K	probably damaging	Het
Tmem81	C	G	1: 132,507,829	I124M	probably damaging	Het
Tspan10	A	G	11: 120,444,418	D118G	probably damaging	Het
Tspo2	A	G	17: 48,448,813		probably benign	Het
Ttn	G	A	2: 76,908,328	Q4002*	probably null	Het
Tyro3	G	A	2: 119,816,904	R834Q	probably damaging	Het
Ugt2b1	T	C	5: 86,926,084	K139E	probably benign	Het
Vmn1r9	A	T	6: 57,071,539	I200F	probably benign	Het

Other mutations in Cdc5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Cdc5l	APN	17	45404676	missense	probably damaging	0.98
IGL01629:Cdc5l	APN	17	45413190	missense	probably benign	0.26
IGL02596:Cdc5l	APN	17	45424604	splice site	probably benign
IGL02973:Cdc5l	APN	17	45404647	missense	probably benign	0.31
IGL03102:Cdc5l	APN	17	45407931	missense	probably damaging	0.99
IGL03113:Cdc5l	APN	17	45433422	missense	possibly damaging	0.47
R0255:Cdc5l	UTSW	17	45415684	missense	probably damaging	1.00
R0333:Cdc5l	UTSW	17	45393216	splice site	probably benign
R0432:Cdc5l	UTSW	17	45415684	missense	probably damaging	1.00
R0532:Cdc5l	UTSW	17	45415684	missense	probably damaging	1.00
R0839:Cdc5l	UTSW	17	45393147	missense	probably benign	0.10
R1462:Cdc5l	UTSW	17	45408362	missense	possibly damaging	0.77
R1462:Cdc5l	UTSW	17	45408362	missense	possibly damaging	0.77
R1483:Cdc5l	UTSW	17	45408364	missense	possibly damaging	0.79
R1634:Cdc5l	UTSW	17	45404706	missense	probably damaging	0.99
R1751:Cdc5l	UTSW	17	45407805	missense	probably benign
R1954:Cdc5l	UTSW	17	45426516	splice site	probably null
R1955:Cdc5l	UTSW	17	45426516	splice site	probably null
R2197:Cdc5l	UTSW	17	45407819	missense	probably benign	0.00
R2229:Cdc5l	UTSW	17	45407846	missense	probably benign	0.04
R4060:Cdc5l	UTSW	17	45410890	missense	probably benign	0.00
R4061:Cdc5l	UTSW	17	45410890	missense	probably benign	0.00
R4064:Cdc5l	UTSW	17	45410890	missense	probably benign	0.00
R4172:Cdc5l	UTSW	17	45419772	missense	probably damaging	1.00
R4334:Cdc5l	UTSW	17	45410786	missense	probably benign	0.00
R5093:Cdc5l	UTSW	17	45393041	missense	possibly damaging	0.50
R5268:Cdc5l	UTSW	17	45415585	missense	probably damaging	0.99
R5729:Cdc5l	UTSW	17	45426569	missense	probably benign	0.39
R6190:Cdc5l	UTSW	17	45408017	missense	probably benign	0.08
R6462:Cdc5l	UTSW	17	45393049	missense	probably benign
R6540:Cdc5l	UTSW	17	45426644	missense	probably damaging	1.00
R7232:Cdc5l	UTSW	17	45427937	critical splice donor site	probably null
R7381:Cdc5l	UTSW	17	45411923	missense	probably benign	0.00
R7589:Cdc5l	UTSW	17	45410781	missense	probably benign	0.41
R8120:Cdc5l	UTSW	17	45407870	missense	probably benign	0.00
R8424:Cdc5l	UTSW	17	45415600	missense	probably benign	0.27
R8495:Cdc5l	UTSW	17	45426523	missense	probably damaging	1.00
R8875:Cdc5l	UTSW	17	45392989	splice site	probably benign
R8884:Cdc5l	UTSW	17	45433541	start gained	probably benign
R8927:Cdc5l	UTSW	17	45410913	missense
R8928:Cdc5l	UTSW	17	45410913	missense
R8958:Cdc5l	UTSW	17	45393201	missense	probably benign	0.00
R8974:Cdc5l	UTSW	17	45404695	missense	possibly damaging	0.83
R9259:Cdc5l	UTSW	17	45425891	missense	possibly damaging	0.69
R9622:Cdc5l	UTSW	17	45404783	missense	probably benign
R9716:Cdc5l	UTSW	17	45433574	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACTGAGCCTGCTAATTCAGCTTC -3'
(R):5'- CCCGGCAAGTTAAGTGGTACAGAG -3'

Sequencing Primer
(F):5'- AAATGCTCTGGGATCATGGC -3'
(R):5'- CAAGTTAAGTGGTACAGAGAGGTC -3'

Posted On

2013-06-11