Mutagenetix > Incidental Mutation

Incidental Mutation 'R4870:Cdc14a'

376484

Institutional Source

Beutler Lab

Gene Symbol

Cdc14a

Ensembl Gene

ENSMUSG00000033502

Gene Name

CDC14 cell division cycle 14A

Synonyms

A830059A17Rik, CDC14a1, CDC14A2, Cdc14

MMRRC Submission

042480-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R4870 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

116066202-116222390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116217109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 9 (I9T)

Ref Sequence

ENSEMBL: ENSMUSP00000102100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090464] [ENSMUST00000106491] [ENSMUST00000197830]

AlphaFold

Q6GQT0

Predicted Effect

probably benign
Transcript: ENSMUST00000090464
AA Change: I9T

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000087950
Gene: ENSMUSG00000033502
AA Change: I9T

Domain	Start	End	E-Value	Type
Pfam:DSPn	13	153	1.6e-66	PFAM
Pfam:Y_phosphatase	210	324	1.1e-7	PFAM
Pfam:DSPc	214	328	1.8e-14	PFAM
low complexity region	539	558	N/A	INTRINSIC
low complexity region	573	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106491
AA Change: I9T

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102100
Gene: ENSMUSG00000033502
AA Change: I9T

Domain	Start	End	E-Value	Type
Pfam:DSPn	12	121	9.5e-44	PFAM
Pfam:Y_phosphatase	160	274	6.4e-8	PFAM
Pfam:DSPc	160	280	2.8e-14	PFAM
low complexity region	490	509	N/A	INTRINSIC
low complexity region	524	546	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148857

Predicted Effect

probably benign
Transcript: ENSMUST00000197830

Meta Mutation Damage Score

0.0765

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

100% (77/77)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,069,540 (GRCm39)	I1285N	probably damaging	Het
Abcc8	G	A	7: 45,756,683 (GRCm39)	R721*	probably null	Het
Alox8	T	C	11: 69,077,394 (GRCm39)	Y423C	probably damaging	Het
Ankle2	T	A	5: 110,399,344 (GRCm39)		probably null	Het
Ceacam18	T	C	7: 43,291,328 (GRCm39)	C257R	probably damaging	Het
Cilp	T	C	9: 65,186,980 (GRCm39)	V1025A	probably damaging	Het
Clcn7	G	T	17: 25,372,539 (GRCm39)		probably benign	Het
Csnk1d	A	T	11: 120,874,014 (GRCm39)		probably benign	Het
Cyp11b2	A	G	15: 74,724,995 (GRCm39)	S285P	probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dmrt1	T	A	19: 25,483,219 (GRCm39)	M1K	probably null	Het
Dnajc14	T	C	10: 128,653,219 (GRCm39)	V684A	probably benign	Het
Dnmt3b	A	G	2: 153,512,284 (GRCm39)	Q335R	probably benign	Het
Exoc3l2	T	A	7: 19,229,117 (GRCm39)	C772S	unknown	Het
F2rl1	A	T	13: 95,650,492 (GRCm39)	F130Y	probably damaging	Het
Galk2	C	G	2: 125,771,557 (GRCm39)	S194*	probably null	Het
Garre1	C	A	7: 33,984,312 (GRCm39)	V104L	possibly damaging	Het
Gpbp1l1	A	G	4: 116,430,714 (GRCm39)	T62A	probably benign	Het
H2-Q10	A	T	17: 35,781,357 (GRCm39)	D53V	probably damaging	Het
H2-T22	T	C	17: 36,349,924 (GRCm39)	K356R	probably benign	Het
Insrr	G	A	3: 87,718,911 (GRCm39)	V956M	probably damaging	Het
Ints7	A	G	1: 191,328,443 (GRCm39)	T239A	probably damaging	Het
Isl1	A	G	13: 116,444,806 (GRCm39)		probably benign	Het
Kcng2	A	G	18: 80,366,083 (GRCm39)	C90R	probably benign	Het
Kif3c	C	T	12: 3,451,735 (GRCm39)	P171S	probably damaging	Het
Knl1	A	G	2: 118,911,994 (GRCm39)	T1704A	probably benign	Het
Lats1	A	G	10: 7,581,549 (GRCm39)	Y778C	probably damaging	Het
Limd2	T	C	11: 106,050,215 (GRCm39)	M1V	probably null	Het
Mcm10	A	T	2: 5,008,970 (GRCm39)	I333N	probably damaging	Het
Mipep	T	A	14: 61,040,329 (GRCm39)	L283*	probably null	Het
Mixl1	A	G	1: 180,522,237 (GRCm39)	S215P	probably benign	Het
Mmp21	A	G	7: 133,280,406 (GRCm39)	L188P	probably damaging	Het
Mob1a	T	C	6: 83,317,221 (GRCm39)	S213P	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Ndufaf6	T	C	4: 11,060,917 (GRCm39)	T220A	probably benign	Het
Nr4a3	A	T	4: 48,051,651 (GRCm39)	Y135F	possibly damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Obscn	A	T	11: 59,027,032 (GRCm39)	L57Q	probably damaging	Het
Or52e19b	T	A	7: 103,032,840 (GRCm39)	D123V	probably damaging	Het
Or5d35	T	C	2: 87,855,804 (GRCm39)	L246P	probably damaging	Het
Pirb	T	A	7: 3,715,661 (GRCm39)	M839L	probably benign	Het
Plcl2	A	G	17: 50,914,254 (GRCm39)	E421G	possibly damaging	Het
Ppp1r12b	T	C	1: 134,876,771 (GRCm39)	N99S	probably benign	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rptn	A	T	3: 93,303,776 (GRCm39)	K370*	probably null	Het
Simc1	A	G	13: 54,687,576 (GRCm39)	D115G	probably null	Het
Stab1	T	A	14: 30,864,000 (GRCm39)	N136I	probably benign	Het
Syt4	T	A	18: 31,580,409 (GRCm39)		probably benign	Het
Sytl2	A	T	7: 90,038,106 (GRCm39)	N522I	probably damaging	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tenm2	A	T	11: 35,969,396 (GRCm39)	D847E	probably damaging	Het
Th	G	T	7: 142,447,834 (GRCm39)	D321E	probably benign	Het
Tmem44	A	T	16: 30,359,591 (GRCm39)	L46Q	probably damaging	Het
Trp53bp1	A	G	2: 121,087,122 (GRCm39)	L178P	probably damaging	Het
Trp63	A	G	16: 25,684,968 (GRCm39)	*285W	probably null	Het
Tsen34	T	C	7: 3,697,380 (GRCm39)		probably benign	Het
Tssk4	C	T	14: 55,889,272 (GRCm39)	T256I	probably benign	Het
Ttc17	A	T	2: 94,196,954 (GRCm39)	N464K	probably damaging	Het
Ttll2	C	T	17: 7,618,998 (GRCm39)	V310I	probably benign	Het
Ubn1	A	G	16: 4,895,177 (GRCm39)	E741G	probably damaging	Het
Urad	T	A	5: 147,252,264 (GRCm39)	I63F	probably damaging	Het
Vcan	T	C	13: 89,852,858 (GRCm39)	T701A	probably benign	Het
Vmn2r58	A	G	7: 41,486,639 (GRCm39)	V752A	possibly damaging	Het
Vmn2r69	C	A	7: 85,060,793 (GRCm39)	V264L	possibly damaging	Het
Zfp292	A	G	4: 34,808,917 (GRCm39)	S1376P	probably damaging	Het
Zfp955a	G	A	17: 33,460,699 (GRCm39)	R478*	probably null	Het
Znfx1	A	C	2: 166,897,189 (GRCm39)	F578L	probably benign	Het

Other mutations in Cdc14a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00801:Cdc14a	APN	3	116,088,493 (GRCm39)	nonsense	probably null
IGL01062:Cdc14a	APN	3	116,068,361 (GRCm39)	splice site	probably benign
IGL01584:Cdc14a	APN	3	116,186,474 (GRCm39)	nonsense	probably null
IGL03084:Cdc14a	APN	3	116,142,101 (GRCm39)	critical splice donor site	probably null
IGL03237:Cdc14a	APN	3	116,198,275 (GRCm39)	intron	probably benign
IGL03296:Cdc14a	APN	3	116,090,807 (GRCm39)	missense	probably benign	0.02
PIT4131001:Cdc14a	UTSW	3	116,122,310 (GRCm39)	missense	possibly damaging	0.66
R0707:Cdc14a	UTSW	3	116,087,362 (GRCm39)	splice site	probably benign
R0782:Cdc14a	UTSW	3	116,115,785 (GRCm39)	missense	probably damaging	1.00
R0835:Cdc14a	UTSW	3	116,122,171 (GRCm39)	missense	probably benign	0.12
R1363:Cdc14a	UTSW	3	116,087,509 (GRCm39)	small deletion	probably benign
R1507:Cdc14a	UTSW	3	116,087,646 (GRCm39)	missense	possibly damaging	0.47
R1545:Cdc14a	UTSW	3	116,087,373 (GRCm39)	critical splice donor site	probably null
R1795:Cdc14a	UTSW	3	116,092,122 (GRCm39)	missense	possibly damaging	0.81
R1797:Cdc14a	UTSW	3	116,115,843 (GRCm39)	missense	probably damaging	1.00
R1830:Cdc14a	UTSW	3	116,216,296 (GRCm39)	nonsense	probably null
R4229:Cdc14a	UTSW	3	116,087,413 (GRCm39)	missense	probably damaging	0.99
R4655:Cdc14a	UTSW	3	116,122,136 (GRCm39)	missense	probably damaging	1.00
R4769:Cdc14a	UTSW	3	116,088,399 (GRCm39)	critical splice donor site	probably null
R4980:Cdc14a	UTSW	3	116,186,506 (GRCm39)	nonsense	probably null
R6228:Cdc14a	UTSW	3	116,144,862 (GRCm39)	missense	probably damaging	1.00
R6248:Cdc14a	UTSW	3	116,101,843 (GRCm39)	missense	probably benign	0.01
R6402:Cdc14a	UTSW	3	116,142,108 (GRCm39)	missense	probably damaging	1.00
R6749:Cdc14a	UTSW	3	116,090,807 (GRCm39)	missense	possibly damaging	0.68
R6852:Cdc14a	UTSW	3	116,122,325 (GRCm39)	missense	possibly damaging	0.94
R6996:Cdc14a	UTSW	3	116,122,355 (GRCm39)	missense	probably damaging	1.00
R7185:Cdc14a	UTSW	3	116,087,676 (GRCm39)	missense	probably benign
R7783:Cdc14a	UTSW	3	116,198,236 (GRCm39)	missense	probably damaging	1.00
R7896:Cdc14a	UTSW	3	116,088,482 (GRCm39)	missense	probably benign	0.00
R7991:Cdc14a	UTSW	3	116,101,887 (GRCm39)	missense	probably benign	0.01
R8049:Cdc14a	UTSW	3	116,087,577 (GRCm39)	missense	probably benign	0.33
R9163:Cdc14a	UTSW	3	116,122,213 (GRCm39)	missense	possibly damaging	0.95
R9434:Cdc14a	UTSW	3	116,217,092 (GRCm39)	missense	probably benign
R9526:Cdc14a	UTSW	3	116,087,509 (GRCm39)	small deletion	probably benign
R9662:Cdc14a	UTSW	3	116,088,484 (GRCm39)	missense	probably damaging	0.99
R9781:Cdc14a	UTSW	3	116,122,274 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCCCAAGCAGAGAAGCCTG -3'
(R):5'- CCATGATCACTTTGGGAGCC -3'

Sequencing Primer
(F):5'- AGAGAAGCCTGCACTGTCC -3'
(R):5'- AAAGACTTTGCCCGGCCTTG -3'

Posted On

2016-03-17