Mutagenetix > Incidental Mutation

Incidental Mutation 'R1751:Cdc5l'

193563

Institutional Source

Beutler Lab

Gene Symbol

Cdc5l

Ensembl Gene

ENSMUSG00000023932

Gene Name

cell division cycle 5-like

Synonyms

1200002I02Rik, PCDC5RP

MMRRC Submission

039783-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R1751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45702809-45744633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45718731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 628 (D628E)

Ref Sequence

ENSEMBL: ENSMUSP00000024727 (fasta)

Gene Model

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

AlphaFold

Q6A068

Predicted Effect

probably benign
Transcript: ENSMUST00000024727
AA Change: D628E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: D628E

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

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

99% (85/86)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bank1	G	T	3: 135,940,375 (GRCm39)	R203S	probably benign	Het
Bank1	A	G	3: 135,960,698 (GRCm39)	V53A	probably benign	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Chd3	G	A	11: 69,244,727 (GRCm39)		probably benign	Het
Clstn3	A	T	6: 124,408,958 (GRCm39)	W860R	probably damaging	Het
Cntn4	G	A	6: 106,595,371 (GRCm39)		probably null	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Cyp2b9	T	C	7: 25,886,100 (GRCm39)	V89A	probably benign	Het
Depdc1a	T	C	3: 159,228,924 (GRCm39)	C559R	probably damaging	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Fam20a	A	T	11: 109,568,664 (GRCm39)	N287K	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Fzd8	C	T	18: 9,213,643 (GRCm39)	R242C	probably damaging	Het
Gart	A	C	16: 91,439,837 (GRCm39)		probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm5519	T	C	19: 33,802,391 (GRCm39)	Y145H	possibly damaging	Het
Gmeb1	G	A	4: 131,962,198 (GRCm39)	Q154*	probably null	Het
Gnas	T	A	2: 174,139,687 (GRCm39)		probably benign	Het
Greb1	A	G	12: 16,773,439 (GRCm39)		probably benign	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gucy2c	A	T	6: 136,725,773 (GRCm39)		probably benign	Het
Igf2r	A	C	17: 12,916,328 (GRCm39)	S1677A	possibly damaging	Het
Jmjd1c	T	C	10: 67,061,469 (GRCm39)	L1274P	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrp6	A	G	6: 134,441,531 (GRCm39)	L1145S	probably damaging	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Nol8	A	T	13: 49,820,884 (GRCm39)	T914S	probably benign	Het
Npas4	G	A	19: 5,038,211 (GRCm39)	P199L	probably benign	Het
Or12d17	A	T	17: 37,777,792 (GRCm39)	M232L	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pcp4	A	C	16: 96,326,689 (GRCm39)	Q290P	probably damaging	Het
Pdlim1	C	T	19: 40,240,348 (GRCm39)		probably benign	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Pik3c2a	A	C	7: 115,945,471 (GRCm39)	V1445G	probably damaging	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Plxnc1	A	G	10: 94,685,677 (GRCm39)		probably benign	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rfx2	A	G	17: 57,091,754 (GRCm39)	V313A	probably benign	Het
Robo2	A	G	16: 73,831,912 (GRCm39)	V256A	probably damaging	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Sbpl	A	G	17: 24,173,777 (GRCm39)		probably null	Het
Scg3	G	A	9: 75,576,622 (GRCm39)	T251M	probably damaging	Het
Setbp1	T	C	18: 78,900,613 (GRCm39)	D1018G	probably damaging	Het
Slc38a11	T	A	2: 65,180,452 (GRCm39)	I182F	probably benign	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Smarca2	T	C	19: 26,617,780 (GRCm39)		probably benign	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Stox1	T	C	10: 62,495,445 (GRCm39)	T943A	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Trpc7	T	A	13: 56,923,956 (GRCm39)	D743V	probably damaging	Het
Trrap	T	C	5: 144,751,385 (GRCm39)		probably null	Het
Tsc1	A	G	2: 28,566,038 (GRCm39)	I485V	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Tsr3	T	C	17: 25,461,613 (GRCm39)	I317T	possibly damaging	Het
Tubb1	A	G	2: 174,298,689 (GRCm39)	S124G	probably benign	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r108	A	T	17: 20,682,786 (GRCm39)	V806E	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zfp108	C	A	7: 23,961,321 (GRCm39)	H637Q	probably 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
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
R9716:Cdc5l	UTSW	17	45,744,500 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCAGACTTTAGCAGAGGAAAATAGCAA -3'
(R):5'- AGTTTATGCTGTAAGAGTAGGCACAGGA -3'

Sequencing Primer
(F):5'- tccagcacccacataaaaaaag -3'
(R):5'- CCTCTAACAGATTTACAGAAGAGTG -3'

Posted On

2014-05-23