Mutagenetix > Incidental Mutation

Incidental Mutation 'R2197:Cdc5l'

238458

Institutional Source

Beutler Lab

Gene Symbol

Cdc5l

Ensembl Gene

ENSMUSG00000023932

Gene Name

cell division cycle 5-like

Synonyms

1200002I02Rik, PCDC5RP

MMRRC Submission

040199-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R2197 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45702809-45744633 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45718745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 624 (F624I)

Ref Sequence

ENSEMBL: ENSMUSP00000024727 (fasta)

Gene Model

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

AlphaFold

Q6A068

Predicted Effect

probably benign
Transcript: ENSMUST00000024727
AA Change: F624I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000024727
Gene: ENSMUSG00000023932
AA Change: F624I

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: 95.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	A	T	11: 102,660,750 (GRCm39)	I94F	possibly damaging	Het
Ankrd50	A	T	3: 38,509,741 (GRCm39)	D875E	probably damaging	Het
Arf3	T	C	15: 98,639,285 (GRCm39)	N60S	probably benign	Het
Atxn2	T	G	5: 121,944,280 (GRCm39)		probably null	Het
B3gnt8	A	T	7: 25,328,373 (GRCm39)	I268F	probably benign	Het
Bmp1	T	A	14: 70,723,712 (GRCm39)	D708V	possibly damaging	Het
C1s2	A	G	6: 124,609,069 (GRCm39)	S163P	probably damaging	Het
C3	A	G	17: 57,526,623 (GRCm39)	I786T	probably benign	Het
Cacna2d2	T	A	9: 107,404,602 (GRCm39)	L1138Q	probably damaging	Het
Cage1	T	A	13: 38,207,029 (GRCm39)	Y272F	probably damaging	Het
Cd300ld	A	T	11: 114,875,058 (GRCm39)	M192K	possibly damaging	Het
Cdh8	T	A	8: 99,922,897 (GRCm39)	Q333L	probably damaging	Het
Ciapin1	T	A	8: 95,555,787 (GRCm39)	K128*	probably null	Het
Col6a3	T	A	1: 90,731,467 (GRCm39)	E988D	probably benign	Het
Crip3	A	G	17: 46,740,338 (GRCm39)	E46G	probably damaging	Het
D5Ertd579e	A	G	5: 36,772,137 (GRCm39)	S753P	possibly damaging	Het
Dock6	T	A	9: 21,744,177 (GRCm39)	D126V	probably damaging	Het
Duxf4	T	A	10: 58,072,158 (GRCm39)	I19F	possibly damaging	Het
Dvl3	A	G	16: 20,342,506 (GRCm39)	E153G	probably damaging	Het
Epas1	A	T	17: 87,136,471 (GRCm39)	M748L	probably benign	Het
Exoc8	A	G	8: 125,622,477 (GRCm39)	L630P	probably damaging	Het
Fam227a	G	A	15: 79,507,668 (GRCm39)	T454M	probably damaging	Het
Flnc	A	T	6: 29,459,134 (GRCm39)	D2472V	probably damaging	Het
Galnt4	G	A	10: 98,944,509 (GRCm39)	G78E	probably damaging	Het
Ghr	A	T	15: 3,362,956 (GRCm39)	L172*	probably null	Het
Gjb5	A	T	4: 127,250,063 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,095,340 (GRCm39)	D427G	probably damaging	Het
Hsd17b4	G	A	18: 50,316,369 (GRCm39)		probably null	Het
Kcnab1	T	C	3: 65,017,368 (GRCm39)	I59T	probably benign	Het
Kcnh7	A	G	2: 62,607,950 (GRCm39)	Y544H	probably damaging	Het
Kdm7a	A	G	6: 39,123,870 (GRCm39)	S765P	probably damaging	Het
Lama1	A	T	17: 68,059,936 (GRCm39)	H675L	probably benign	Het
Lemd3	CCCTCCTCCTCCTCCTCCTCC	CCCTCCTCCTCCTCCTCC	10: 120,814,432 (GRCm39)		probably benign	Het
Llgl1	T	C	11: 60,600,865 (GRCm39)	S654P	possibly damaging	Het
Lvrn	G	T	18: 47,011,409 (GRCm39)	M455I	probably benign	Het
Mfsd12	T	A	10: 81,193,568 (GRCm39)	L46Q	probably damaging	Het
Mtcl1	A	T	17: 66,673,427 (GRCm39)	M783K	probably benign	Het
Mthfd1l	A	T	10: 3,978,399 (GRCm39)	T420S	probably damaging	Het
Mybphl	T	A	3: 108,284,635 (GRCm39)	I294N	probably damaging	Het
Or4c52	G	A	2: 89,845,768 (GRCm39)	G165S	probably damaging	Het
Or4f14b	T	C	2: 111,775,658 (GRCm39)	T48A	possibly damaging	Het
Or52ab7	T	A	7: 102,977,831 (GRCm39)	L46*	probably null	Het
Oxa1l	A	T	14: 54,598,924 (GRCm39)	Q70L	probably benign	Het
Pcdhac2	A	T	18: 37,279,185 (GRCm39)	I722F	probably damaging	Het
Pde4d	A	G	13: 110,084,924 (GRCm39)	D460G	probably damaging	Het
Pth1r	CGGG	CGGGGGG	9: 110,556,058 (GRCm39)		probably benign	Het
Rab11fip3	A	G	17: 26,287,152 (GRCm39)	S334P	probably benign	Het
Ror2	C	T	13: 53,439,816 (GRCm39)		probably null	Het
Scnn1g	G	C	7: 121,366,519 (GRCm39)	W572S	probably damaging	Het
Skint5	G	A	4: 113,798,046 (GRCm39)	S179L	probably damaging	Het
Slc22a2	G	T	17: 12,817,949 (GRCm39)	G175V	probably damaging	Het
Spaca6	G	A	17: 18,056,416 (GRCm39)		probably null	Het
Tbc1d30	C	T	10: 121,140,312 (GRCm39)	R207H	probably damaging	Het
Tdrd5	A	G	1: 156,087,435 (GRCm39)	I829T	probably benign	Het
Tmcc3	T	C	10: 94,414,780 (GRCm39)	S161P	probably damaging	Het
Tmem150b	A	G	7: 4,719,353 (GRCm39)	V189A	probably benign	Het
Tmem248	A	G	5: 130,260,597 (GRCm39)	D54G	probably benign	Het
Trmt1	T	A	8: 85,417,487 (GRCm39)	S121T	probably damaging	Het
Tyk2	C	T	9: 21,026,503 (GRCm39)	V698M	probably damaging	Het
Usp17la	A	G	7: 104,509,919 (GRCm39)	R175G	probably damaging	Het
Vav1	A	G	17: 57,610,140 (GRCm39)	N464S	probably benign	Het
Vmn2r57	T	G	7: 41,078,249 (GRCm39)		probably null	Het
Vmn2r78	A	G	7: 86,570,535 (GRCm39)	Y351C	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
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'- ATGTACATGGGCTCAAGCAC -3'
(R):5'- GACCTTTAAATGTAGAACCACCTC -3'

Sequencing Primer
(F):5'- GGCTCAAGCACACACACTACTTAC -3'
(R):5'- ACCTCTAACAGATTTACAGAAGAGTG -3'

Posted On

2014-10-02