Mutagenetix > Incidental Mutation

Incidental Mutation 'R2229:Cdc5l'

239635

Institutional Source

Beutler Lab

Gene Symbol

Cdc5l

Ensembl Gene

ENSMUSG00000023932

Gene Name

cell division cycle 5-like

Synonyms

1200002I02Rik, PCDC5RP

MMRRC Submission

040230-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2229 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45702809-45744633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45718772 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 615 (Y615H)

Ref Sequence

ENSEMBL: ENSMUSP00000024727 (fasta)

Gene Model

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

AlphaFold

Q6A068

Predicted Effect

probably benign
Transcript: ENSMUST00000024727
AA Change: Y615H

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: Y615H

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

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
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,311,795 (GRCm39)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,572,766 (GRCm39)	S350N	probably benign	Het
Agbl1	A	G	7: 76,083,126 (GRCm39)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,560,168 (GRCm39)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,455,280 (GRCm39)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Banp	G	A	8: 122,705,424 (GRCm39)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,059,945 (GRCm39)	D601G	probably damaging	Het
C9	T	C	15: 6,474,901 (GRCm39)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,575,816 (GRCm39)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,955,867 (GRCm39)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,758,485 (GRCm39)	P502S	probably benign	Het
Fsip1	T	C	2: 118,052,925 (GRCm39)	E367G	probably benign	Het
Gja3	T	C	14: 57,274,171 (GRCm39)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,185,490 (GRCm39)		probably benign	Het
Gm7853	A	G	14: 35,811,484 (GRCm39)		noncoding transcript	Het
Gmps	T	G	3: 63,921,684 (GRCm39)	Y562*	probably null	Het
Golga2	C	A	2: 32,196,477 (GRCm39)	P976T	probably benign	Het
Gpr182	T	A	10: 127,586,010 (GRCm39)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,502,891 (GRCm39)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,828,339 (GRCm39)	T516A	probably benign	Het
H2ac21	T	C	3: 96,127,422 (GRCm39)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,416,671 (GRCm39)	S231T	probably benign	Het
Kpna7	A	T	5: 144,926,507 (GRCm39)	Y482N	probably damaging	Het
Lmnb2	T	C	10: 80,740,226 (GRCm39)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm39)	S121G	probably benign	Het
Mppe1	A	G	18: 67,361,082 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,415,381 (GRCm39)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,199,174 (GRCm39)	N1893K	probably damaging	Het
Myo7a	T	C	7: 97,704,117 (GRCm39)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Nek5	A	T	8: 22,603,648 (GRCm39)	N151K	possibly damaging	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Oca2	T	A	7: 56,006,903 (GRCm39)	H663Q	probably benign	Het
Optn	T	A	2: 5,028,928 (GRCm39)	H525L	probably damaging	Het
Pdzph1	A	G	17: 59,239,407 (GRCm39)		probably benign	Het
Pikfyve	A	G	1: 65,307,014 (GRCm39)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,563,382 (GRCm39)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Prpf19	A	G	19: 10,874,962 (GRCm39)	T39A	probably benign	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,152,688 (GRCm39)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,698,104 (GRCm39)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,707,180 (GRCm39)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm39)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,324,210 (GRCm39)		probably benign	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,072,334 (GRCm39)		probably null	Het
Tas2r104	G	A	6: 131,662,095 (GRCm39)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,965,249 (GRCm39)		probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Trim25	T	A	11: 88,907,447 (GRCm39)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,824,983 (GRCm39)	E54G	probably damaging	Het
Ttn	T	C	2: 76,559,668 (GRCm39)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,480,629 (GRCm39)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp13	A	G	3: 32,971,700 (GRCm39)	I727V	probably benign	Het
Vmn2r67	T	A	7: 84,801,250 (GRCm39)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,387,654 (GRCm39)	I220L	probably benign	Het
Wnk4	T	A	11: 101,166,467 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,520,557 (GRCm39)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,743,384 (GRCm39)	I60M	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
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
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'- ATGACATTTATCTCCCAGTCATGC -3'
(R):5'- GCACAGGATATTGCAGATGTGTC -3'

Sequencing Primer
(F):5'- CTTCCTTTGGTTCGGAGTAGCAATG -3'
(R):5'- AGATGTGTCTGATCATTTTGCTTG -3'

Posted On

2014-10-15