Mutagenetix > Incidental Mutation

Incidental Mutation 'R7991:Cdc14a'

651719

Institutional Source

Beutler Lab

Gene Symbol

Cdc14a

Ensembl Gene

ENSMUSG00000033502

Gene Name

CDC14 cell division cycle 14A

Synonyms

A830059A17Rik, CDC14a1, CDC14A2, Cdc14

MMRRC Submission

046032-MU

Accession Numbers

Essential gene?

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

Stock #

R7991 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116066202-116222390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116101887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 347 (S347P)

Ref Sequence

ENSEMBL: ENSMUSP00000087950 (fasta)

Gene Model

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

AlphaFold

Q6GQT0

Predicted Effect

probably benign
Transcript: ENSMUST00000090464
AA Change: S347P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000087950
Gene: ENSMUSG00000033502
AA Change: S347P

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

possibly damaging
Transcript: ENSMUST00000106491
AA Change: S298P

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102100
Gene: ENSMUSG00000033502
AA Change: S298P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,185,726 (GRCm39)	D1200G	probably damaging	Het
Adnp2	A	G	18: 80,172,537 (GRCm39)	L624P	probably damaging	Het
Akap9	A	G	5: 4,114,949 (GRCm39)		probably null	Het
Ap2a2	A	G	7: 141,189,760 (GRCm39)	Y249C	probably damaging	Het
Asxl2	A	T	12: 3,534,531 (GRCm39)	N243Y	probably damaging	Het
Btnl4	A	G	17: 34,693,257 (GRCm39)	S53P	probably damaging	Het
Caly	T	C	7: 139,651,513 (GRCm39)	D116G	possibly damaging	Het
Ccdc121rt2	G	A	5: 112,598,791 (GRCm39)	R446H	probably benign	Het
Ccdc168	T	A	1: 44,098,869 (GRCm39)	H743L	probably benign	Het
Ccdc81	G	A	7: 89,539,609 (GRCm39)	A209V	probably benign	Het
Cdh9	G	T	15: 16,828,489 (GRCm39)	A194S	probably damaging	Het
Clca3a2	A	G	3: 144,519,756 (GRCm39)	V206A	probably benign	Het
Clca4a	A	T	3: 144,658,500 (GRCm39)	V905E	possibly damaging	Het
Cluap1	A	G	16: 3,746,485 (GRCm39)	E282G	probably damaging	Het
Cmtm2b	T	A	8: 105,056,419 (GRCm39)	C109*	probably null	Het
Crtac1	T	C	19: 42,322,399 (GRCm39)	N114D	probably benign	Het
Dennd1b	T	C	1: 139,013,634 (GRCm39)	Y168H		Het
Dock6	T	C	9: 21,757,858 (GRCm39)	D82G	probably damaging	Het
Eps8	C	T	6: 137,505,569 (GRCm39)	R53Q	possibly damaging	Het
Erfl	G	A	7: 24,627,975 (GRCm39)	P185S	possibly damaging	Het
Fh1	T	C	1: 175,437,337 (GRCm39)	Y254C	probably damaging	Het
H2-Q1	T	A	17: 35,540,356 (GRCm39)	L147Q	probably damaging	Het
H3c8	T	A	13: 23,719,887 (GRCm39)	M91K	probably benign	Het
Hnrnpu	A	T	1: 178,159,871 (GRCm39)	D403E	unknown	Het
Il34	T	C	8: 111,476,122 (GRCm39)	K33E	probably benign	Het
Klhl20	A	G	1: 160,934,434 (GRCm39)	V195A	possibly damaging	Het
Lair1	G	T	7: 4,031,969 (GRCm39)	T46N	probably damaging	Het
Lama4	A	G	10: 38,921,805 (GRCm39)	E442G	possibly damaging	Het
Lifr	A	T	15: 7,202,963 (GRCm39)	I400F	possibly damaging	Het
Man2a1	T	C	17: 64,908,771 (GRCm39)	I14T	probably benign	Het
Or13p10	T	A	4: 118,523,489 (GRCm39)	C258*	probably null	Het
Or1ad8	T	G	11: 50,898,071 (GRCm39)	S91A	possibly damaging	Het
Or4z4	A	C	19: 12,076,190 (GRCm39)	V271G	possibly damaging	Het
Or51h7	A	G	7: 102,591,760 (GRCm39)	L8P	probably benign	Het
Or5an10	T	A	19: 12,275,639 (GRCm39)	I286F	probably damaging	Het
Or8s10	T	C	15: 98,335,419 (GRCm39)	I23T	probably benign	Het
Papss2	G	T	19: 32,629,403 (GRCm39)	V331F	possibly damaging	Het
Pcdha11	T	C	18: 37,145,909 (GRCm39)	S667P	probably damaging	Het
Pcolce	A	T	5: 137,607,390 (GRCm39)	S75T	probably benign	Het
Phf20l1	A	C	15: 66,502,768 (GRCm39)	D716A	possibly damaging	Het
Pkd1	A	G	17: 24,791,595 (GRCm39)	E1094G	possibly damaging	Het
Ppm1h	A	G	10: 122,618,152 (GRCm39)	K104E	probably benign	Het
Ppp6r3	T	C	19: 3,509,750 (GRCm39)	Y195C	probably benign	Het
Pramel6	T	A	2: 87,340,031 (GRCm39)	L265Q	probably benign	Het
Prc1	A	T	7: 79,961,969 (GRCm39)	N489I	possibly damaging	Het
Prss59	A	C	6: 40,905,444 (GRCm39)		probably null	Het
Psg22	A	C	7: 18,460,861 (GRCm39)	N497H	probably damaging	Het
Pum3	T	A	19: 27,389,620 (GRCm39)	I411F	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rev3l	A	T	10: 39,739,734 (GRCm39)	I2861L	possibly damaging	Het
Rsf1	A	C	7: 97,310,540 (GRCm39)	K423N		Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Septin3	A	G	15: 82,170,654 (GRCm39)	E216G	probably benign	Het
Sppl2c	T	C	11: 104,078,640 (GRCm39)	V480A	possibly damaging	Het
Sppl2c	A	G	11: 104,078,189 (GRCm39)	T330A	probably benign	Het
Srebf2	A	G	15: 82,088,253 (GRCm39)	D1073G	probably damaging	Het
Sv2c	C	T	13: 96,224,797 (GRCm39)	V171M	probably damaging	Het
Tbc1d4	T	A	14: 101,845,715 (GRCm39)	E61V	probably damaging	Het
Tnc	T	A	4: 63,926,983 (GRCm39)	T848S	probably benign	Het
Trmt5	A	G	12: 73,329,439 (GRCm39)	Y240H	probably damaging	Het
Trpv1	T	C	11: 73,132,583 (GRCm39)	V399A	possibly damaging	Het
Tstd2	T	C	4: 46,133,646 (GRCm39)	T59A	unknown	Het
Ubash3a	T	A	17: 31,456,869 (GRCm39)	L510M	probably benign	Het
Ubr3	T	A	2: 69,783,200 (GRCm39)	I713N	probably damaging	Het
Upf3a	A	G	8: 13,842,166 (GRCm39)	E194G	probably damaging	Het
Usp22	A	T	11: 61,065,588 (GRCm39)	Y42N	probably benign	Het
Vav3	T	A	3: 109,470,478 (GRCm39)	C555S	probably damaging	Het
Vmn1r210	T	A	13: 23,011,684 (GRCm39)	M201L	probably benign	Het
Wdr64	C	A	1: 175,554,051 (GRCm39)	Q194K	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
R4870:Cdc14a	UTSW	3	116,217,109 (GRCm39)	missense	probably benign	0.30
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
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'- TTCAATGCAGGAACAAATGGAC -3'
(R):5'- AGATAGAGCCTGACTTGTTAGTG -3'

Sequencing Primer
(F):5'- TGGACAAAGAATGTTGGTGTTAG -3'
(R):5'- AGCATTGGGAAGATGACC -3'

Posted On

2020-09-15