Mutagenetix > Incidental Mutation

Incidental Mutation 'R9716:Cdc5l'

730491

Institutional Source

Beutler Lab

Gene Symbol

Cdc5l

Ensembl Gene

ENSMUSG00000023932

Gene Name

cell division cycle 5-like

Synonyms

1200002I02Rik, PCDC5RP

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R9716 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

45702809-45744633 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to A at 45744500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000024727 (fasta)

Gene Model

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

AlphaFold

Q6A068

Predicted Effect

probably benign
Transcript: ENSMUST00000024727

SMART Domains

Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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 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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,274 (GRCm39)	K178I	possibly damaging	Het
Adarb1	T	A	10: 77,131,539 (GRCm39)	H650L	possibly damaging	Het
Alms1	G	T	6: 85,578,234 (GRCm39)	L187F	possibly damaging	Het
Ano3	T	A	2: 110,601,376 (GRCm39)	N294I	probably damaging	Het
Asb3	T	A	11: 31,031,460 (GRCm39)	M360K	probably benign	Het
Atp6v0d2	T	C	4: 19,890,834 (GRCm39)	I109V	probably benign	Het
C9	A	T	15: 6,526,430 (GRCm39)		probably null	Het
Calcr	A	T	6: 3,687,468 (GRCm39)	I510N	probably benign	Het
Cdca3	T	A	6: 124,809,172 (GRCm39)	I104N	probably benign	Het
Chpt1	C	T	10: 88,339,446 (GRCm39)		probably null	Het
Chrna5	A	G	9: 54,911,919 (GRCm39)	I240V	probably benign	Het
Dhx29	T	C	13: 113,081,612 (GRCm39)	V412A	possibly damaging	Het
Dnah11	T	A	12: 118,024,148 (GRCm39)	M1868L	probably damaging	Het
Dock6	A	G	9: 21,742,418 (GRCm39)	V269A	probably benign	Het
Eif4b	T	C	15: 101,990,443 (GRCm39)	S16P	probably benign	Het
Eppk1	G	A	15: 75,994,526 (GRCm39)	T785I	probably benign	Het
Ezh2	T	C	6: 47,531,141 (GRCm39)	Y181C	possibly damaging	Het
Fem1c	T	C	18: 46,657,561 (GRCm39)	Y51C	probably damaging	Het
Garin5a	A	T	7: 44,150,405 (GRCm39)	E199V	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gltp	A	G	5: 114,808,470 (GRCm39)	*210Q	probably null	Het
Gm10318	T	A	10: 77,689,102 (GRCm39)	V123D	unknown	Het
Gm5134	C	T	10: 75,821,943 (GRCm39)	T259I	probably benign	Het
Gm6526	T	A	14: 43,988,309 (GRCm39)	C187S	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Gulo	T	C	14: 66,234,348 (GRCm39)	E238G	probably benign	Het
Htt	G	A	5: 35,012,019 (GRCm39)	V1565M	probably damaging	Het
Inpp5d	A	T	1: 87,625,191 (GRCm39)	D457V	possibly damaging	Het
Itpk1	C	T	12: 102,572,347 (GRCm39)		probably null	Het
Kif20a	T	C	18: 34,762,228 (GRCm39)	C414R	possibly damaging	Het
Klra3	T	C	6: 130,300,602 (GRCm39)	I256V	probably damaging	Het
Klrb1a	T	C	6: 128,597,239 (GRCm39)	T60A	probably benign	Het
Kmt2d	T	C	15: 98,741,283 (GRCm39)	K4592E	unknown	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lhcgr	A	G	17: 89,050,446 (GRCm39)	I360T	probably damaging	Het
Lmod2	G	A	6: 24,604,182 (GRCm39)	V386I	possibly damaging	Het
Med29	T	C	7: 28,086,308 (GRCm39)	I167V	possibly damaging	Het
Mis18bp1	T	A	12: 65,205,337 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,013,464 (GRCm39)	K86E	possibly damaging	Het
Ndst4	T	A	3: 125,232,211 (GRCm39)	L260Q	probably damaging	Het
Neurod2	T	C	11: 98,218,444 (GRCm39)	Y240C	probably damaging	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or10ag55-ps1	T	A	2: 87,115,491 (GRCm39)	S286T	probably damaging	Het
Or10c1	G	T	17: 37,522,355 (GRCm39)	R130S	possibly damaging	Het
Or1q1	C	T	2: 36,887,290 (GRCm39)	A156V	probably damaging	Het
Or6p1	T	A	1: 174,258,641 (GRCm39)	S216T	probably benign	Het
Pcm1	T	A	8: 41,728,168 (GRCm39)	S542T	probably damaging	Het
Pde7a	C	T	3: 19,285,167 (GRCm39)	G340D	probably benign	Het
Phkb	T	G	8: 86,604,798 (GRCm39)	C68G	probably null	Het
Ppif	A	G	14: 25,695,921 (GRCm39)	T73A	possibly damaging	Het
Prkacb	T	C	3: 146,463,475 (GRCm39)	E79G	probably damaging	Het
Ptprz1	G	T	6: 22,959,650 (GRCm39)	W49L	probably damaging	Het
Ring1	T	C	17: 34,240,420 (GRCm39)	E386G	possibly damaging	Het
Rp1	A	G	1: 4,212,833 (GRCm39)		probably null	Het
Rrm2	T	C	12: 24,760,446 (GRCm39)	Y177H	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,060,639 (GRCm39)	I180N	probably damaging	Het
Slc22a12	A	G	19: 6,586,765 (GRCm39)		probably null	Het
Spa17	C	T	9: 37,518,921 (GRCm39)	A73T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Sugp2	C	A	8: 70,712,370 (GRCm39)	T995K	probably damaging	Het
Sumo3	T	A	10: 77,442,792 (GRCm39)	V4E	unknown	Het
Svil	C	A	18: 5,062,370 (GRCm39)	Q810K	probably damaging	Het
Tbr1	C	T	2: 61,635,077 (GRCm39)	P9L	probably benign	Het
Tmem26	C	T	10: 68,576,790 (GRCm39)	P78L	probably damaging	Het
Ttll9	A	G	2: 152,818,136 (GRCm39)	H42R	probably benign	Het
Usb1	T	C	8: 96,070,685 (GRCm39)	Y204H	probably damaging	Het
Vcpip1	A	G	1: 9,815,948 (GRCm39)	Y812H	probably benign	Het
Vmn2r15	T	C	5: 109,445,224 (GRCm39)	R67G	possibly damaging	Het
Wdr64	A	T	1: 175,622,658 (GRCm39)	I802L	probably benign	Het
Xndc1	T	C	7: 101,725,114 (GRCm39)	S100P	probably damaging	Het
Xpot	T	C	10: 121,447,392 (GRCm39)	I128V	probably benign	Het
Xrn1	C	T	9: 95,927,632 (GRCm39)	S1472F	possibly damaging	Het
Zscan12	A	T	13: 21,547,938 (GRCm39)	Y40F	possibly damaging	Het

Other mutations in Cdc5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Cdc5l	APN	17	45,715,602 (GRCm39)	missense	probably damaging	0.98
IGL01629:Cdc5l	APN	17	45,724,116 (GRCm39)	missense	probably benign	0.26
IGL02596:Cdc5l	APN	17	45,735,530 (GRCm39)	splice site	probably benign
IGL02973:Cdc5l	APN	17	45,715,573 (GRCm39)	missense	probably benign	0.31
IGL03102:Cdc5l	APN	17	45,718,857 (GRCm39)	missense	probably damaging	0.99
IGL03113:Cdc5l	APN	17	45,744,348 (GRCm39)	missense	possibly damaging	0.47
R0255:Cdc5l	UTSW	17	45,726,610 (GRCm39)	missense	probably damaging	1.00
R0333:Cdc5l	UTSW	17	45,704,142 (GRCm39)	splice site	probably benign
R0432:Cdc5l	UTSW	17	45,726,610 (GRCm39)	missense	probably damaging	1.00
R0532:Cdc5l	UTSW	17	45,726,610 (GRCm39)	missense	probably damaging	1.00
R0551:Cdc5l	UTSW	17	45,726,610 (GRCm39)	missense	probably damaging	1.00
R0839:Cdc5l	UTSW	17	45,704,073 (GRCm39)	missense	probably benign	0.10
R1462:Cdc5l	UTSW	17	45,719,288 (GRCm39)	missense	possibly damaging	0.77
R1462:Cdc5l	UTSW	17	45,719,288 (GRCm39)	missense	possibly damaging	0.77
R1483:Cdc5l	UTSW	17	45,719,290 (GRCm39)	missense	possibly damaging	0.79
R1634:Cdc5l	UTSW	17	45,715,632 (GRCm39)	missense	probably damaging	0.99
R1751:Cdc5l	UTSW	17	45,718,731 (GRCm39)	missense	probably benign
R1954:Cdc5l	UTSW	17	45,737,442 (GRCm39)	splice site	probably null
R1955:Cdc5l	UTSW	17	45,737,442 (GRCm39)	splice site	probably null
R2197:Cdc5l	UTSW	17	45,718,745 (GRCm39)	missense	probably benign	0.00
R2229:Cdc5l	UTSW	17	45,718,772 (GRCm39)	missense	probably benign	0.04
R4060:Cdc5l	UTSW	17	45,721,816 (GRCm39)	missense	probably benign	0.00
R4061:Cdc5l	UTSW	17	45,721,816 (GRCm39)	missense	probably benign	0.00
R4064:Cdc5l	UTSW	17	45,721,816 (GRCm39)	missense	probably benign	0.00
R4172:Cdc5l	UTSW	17	45,730,698 (GRCm39)	missense	probably damaging	1.00
R4334:Cdc5l	UTSW	17	45,721,712 (GRCm39)	missense	probably benign	0.00
R5093:Cdc5l	UTSW	17	45,703,967 (GRCm39)	missense	possibly damaging	0.50
R5268:Cdc5l	UTSW	17	45,726,511 (GRCm39)	missense	probably damaging	0.99
R5729:Cdc5l	UTSW	17	45,737,495 (GRCm39)	missense	probably benign	0.39
R6190:Cdc5l	UTSW	17	45,718,943 (GRCm39)	missense	probably benign	0.08
R6462:Cdc5l	UTSW	17	45,703,975 (GRCm39)	missense	probably benign
R6540:Cdc5l	UTSW	17	45,737,570 (GRCm39)	missense	probably damaging	1.00
R7232:Cdc5l	UTSW	17	45,738,863 (GRCm39)	critical splice donor site	probably null
R7381:Cdc5l	UTSW	17	45,722,849 (GRCm39)	missense	probably benign	0.00
R7589:Cdc5l	UTSW	17	45,721,707 (GRCm39)	missense	probably benign	0.41
R8120:Cdc5l	UTSW	17	45,718,796 (GRCm39)	missense	probably benign	0.00
R8424:Cdc5l	UTSW	17	45,726,526 (GRCm39)	missense	probably benign	0.27
R8495:Cdc5l	UTSW	17	45,737,449 (GRCm39)	missense	probably damaging	1.00
R8875:Cdc5l	UTSW	17	45,703,915 (GRCm39)	splice site	probably benign
R8884:Cdc5l	UTSW	17	45,744,467 (GRCm39)	start gained	probably benign
R8927:Cdc5l	UTSW	17	45,721,839 (GRCm39)	missense
R8928:Cdc5l	UTSW	17	45,721,839 (GRCm39)	missense
R8958:Cdc5l	UTSW	17	45,704,127 (GRCm39)	missense	probably benign	0.00
R8974:Cdc5l	UTSW	17	45,715,621 (GRCm39)	missense	possibly damaging	0.83
R9259:Cdc5l	UTSW	17	45,736,817 (GRCm39)	missense	possibly damaging	0.69
R9622:Cdc5l	UTSW	17	45,715,709 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTAGCAAATGCCAAGCGAGG -3'
(R):5'- AGTTCCAACTCTGGCATCTC -3'

Sequencing Primer
(F):5'- GGGAAAAGCTGCCTCACCTC -3'
(R):5'- CGCGAGAGTTTTGTTTTCCTTCAC -3'

Posted On

2022-10-06