Mutagenetix > Incidental Mutation

Incidental Mutation 'R1507:Cdc14a'

167980

Institutional Source

Beutler Lab

Gene Symbol

Cdc14a

Ensembl Gene

ENSMUSG00000033502

Gene Name

CDC14 cell division cycle 14A

Synonyms

A830059A17Rik, CDC14a1, CDC14A2, Cdc14

MMRRC Submission

039555-MU

Accession Numbers

Essential gene?

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

Stock #

R1507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116066202-116222390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116087646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 455 (T455I)

Ref Sequence

ENSEMBL: ENSMUSP00000102100 (fasta)

Gene Model

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

AlphaFold

Q6GQT0

Predicted Effect

probably benign
Transcript: ENSMUST00000090464
AA Change: T504I

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000087950
Gene: ENSMUSG00000033502
AA Change: T504I

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: T455I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102100
Gene: ENSMUSG00000033502
AA Change: T455I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.7%

Validation Efficiency

100% (66/66)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	T	G	2: 154,391,539 (GRCm39)	V102G	probably benign	Het
Adgrv1	T	C	13: 81,620,699 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,987,441 (GRCm39)	D2908E	probably damaging	Het
Aox1	A	G	1: 58,143,610 (GRCm39)	M1243V	probably benign	Het
Apobec2	T	C	17: 48,730,003 (GRCm39)	D221G	possibly damaging	Het
Bcas1	T	C	2: 170,208,348 (GRCm39)	D472G	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,437 (GRCm39)		noncoding transcript	Het
Cd209d	G	T	8: 3,928,453 (GRCm39)	Q11K	possibly damaging	Het
Cep120	A	G	18: 53,830,729 (GRCm39)	S843P	probably damaging	Het
Cped1	A	T	6: 22,122,260 (GRCm39)	H380L	probably damaging	Het
Derl2	A	T	11: 70,898,171 (GRCm39)	W233R	probably benign	Het
Drd5	A	T	5: 38,478,065 (GRCm39)	I353F	probably damaging	Het
E330034G19Rik	A	T	14: 24,357,055 (GRCm39)	Q197L	possibly damaging	Het
Edil3	T	A	13: 89,279,831 (GRCm39)	S170T	probably damaging	Het
Gldc	T	A	19: 30,096,038 (GRCm39)	T658S	probably damaging	Het
Gpr146	A	G	5: 139,379,124 (GRCm39)	M309V	probably benign	Het
H2bc18	A	G	3: 96,177,189 (GRCm39)	Y41C	probably damaging	Het
Hexim2	T	A	11: 103,029,147 (GRCm39)	C66*	probably null	Het
Htr2a	T	C	14: 74,943,419 (GRCm39)	V333A	probably damaging	Het
Igdcc4	A	G	9: 65,041,026 (GRCm39)	E1065G	probably damaging	Het
Katnip	T	A	7: 125,465,524 (GRCm39)	D1325E	probably damaging	Het
Kcnk9	T	A	15: 72,384,083 (GRCm39)	E365V	possibly damaging	Het
Kif28	T	A	1: 179,563,571 (GRCm39)	N135I	probably damaging	Het
Kmt2a	A	T	9: 44,729,700 (GRCm39)		probably benign	Het
Lamb2	A	T	9: 108,367,581 (GRCm39)	I1788F	probably damaging	Het
Lsm6	G	A	8: 79,539,608 (GRCm39)	R31*	probably null	Het
Mical3	T	A	6: 121,019,199 (GRCm39)	T8S	probably benign	Het
Ncapg2	T	C	12: 116,424,186 (GRCm39)	F1123S	probably benign	Het
Nprl2	A	G	9: 107,420,191 (GRCm39)	D30G	probably benign	Het
Or51l4	C	T	7: 103,404,228 (GRCm39)	R188H	probably benign	Het
Or5ac24	A	T	16: 59,165,856 (GRCm39)	D69E	probably damaging	Het
Or8b51	A	T	9: 38,569,310 (GRCm39)	I126N	probably damaging	Het
Parvg	T	A	15: 84,214,359 (GRCm39)	V181E	probably damaging	Het
Pfas	T	C	11: 68,880,860 (GRCm39)	T1106A	probably benign	Het
Plekhh1	A	T	12: 79,126,224 (GRCm39)	T1310S	probably damaging	Het
Potegl	A	G	2: 23,098,086 (GRCm39)	Y88C	probably damaging	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef2	A	T	3: 78,988,600 (GRCm39)		probably benign	Het
Rfx3	G	T	19: 27,745,913 (GRCm39)	T731K	probably benign	Het
Rnf31	A	T	14: 55,836,439 (GRCm39)	K634*	probably null	Het
Scp2	CACTTTAATAATACTTT	CACTTT	4: 107,944,209 (GRCm39)		probably null	Het
Set	A	G	2: 29,959,106 (GRCm39)	H101R	probably damaging	Het
Slc30a6	G	T	17: 74,715,857 (GRCm39)	V106F	probably damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Spaca3	G	A	11: 80,753,983 (GRCm39)	R40H	probably damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Tenm3	A	G	8: 48,740,857 (GRCm39)	S1209P	probably benign	Het
Tmprss11g	T	C	5: 86,647,470 (GRCm39)	T23A	probably benign	Het
Topors	A	G	4: 40,261,829 (GRCm39)	V485A	probably damaging	Het
Tpgs1	T	A	10: 79,511,620 (GRCm39)	L254Q	probably damaging	Het
Traf3	A	C	12: 111,227,194 (GRCm39)	T336P	probably benign	Het
Ttn	T	A	2: 76,710,934 (GRCm39)		probably benign	Het
Ubr5	G	A	15: 37,981,114 (GRCm39)	R2388W	probably damaging	Het
Unc13a	A	G	8: 72,110,910 (GRCm39)	S434P	probably benign	Het
Usp33	A	G	3: 152,080,400 (GRCm39)	I510M	possibly damaging	Het
Vmn1r65	C	A	7: 6,012,108 (GRCm39)	G42V	probably benign	Het
Xab2	A	G	8: 3,666,031 (GRCm39)	L262S	possibly damaging	Het
Yap1	A	T	9: 7,953,141 (GRCm39)		probably benign	Het
Zbtb14	C	G	17: 69,694,759 (GRCm39)	I152M	probably benign	Het
Zfp609	A	G	9: 65,702,059 (GRCm39)	Y198H	possibly damaging	Het
Zfp629	T	A	7: 127,211,033 (GRCm39)	K259*	probably null	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
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
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'- CCAGAGGTGGTGTCTGTGAACTTAC -3'
(R):5'- ACGACCAGTCAGTGTTCAAGCC -3'

Sequencing Primer
(F):5'- ACTTACAGGTATAGAACGGCTC -3'
(R):5'- TCAACTGTGTGGATCAGAACTG -3'

Posted On

2014-04-13