Mutagenetix > Incidental Mutation

Incidental Mutation 'R9163:Cdc14a'

695827

Institutional Source

Beutler Lab

Gene Symbol

Cdc14a

Ensembl Gene

ENSMUSG00000033502

Gene Name

CDC14 cell division cycle 14A

Synonyms

A830059A17Rik, CDC14a1, CDC14A2, Cdc14

MMRRC Submission

068975-MU

Accession Numbers

Essential gene?

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

Stock #

R9163 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116066202-116222390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116122213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 251 (D251E)

Ref Sequence

ENSEMBL: ENSMUSP00000087950 (fasta)

Gene Model

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

AlphaFold

Q6GQT0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090464
AA Change: D251E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087950
Gene: ENSMUSG00000033502
AA Change: D251E

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 damaging
Transcript: ENSMUST00000106491
AA Change: D202E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102100
Gene: ENSMUSG00000033502
AA Change: D202E

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

probably benign
Transcript: ENSMUST00000197830

Coding Region Coverage

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

Validation Efficiency

99% (69/70)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,393,400 (GRCm39)	S351P	possibly damaging	Het
4930558K02Rik	A	G	1: 161,777,174 (GRCm39)	S128P	probably benign	Het
Adam17	C	T	12: 21,401,588 (GRCm39)	V136I	probably benign	Het
Adam19	A	G	11: 46,018,176 (GRCm39)	T413A	probably benign	Het
Adam28	T	C	14: 68,866,531 (GRCm39)	K443E	probably damaging	Het
Adgrv1	T	A	13: 81,567,541 (GRCm39)	T5211S	probably benign	Het
Adnp2	A	T	18: 80,172,200 (GRCm39)	N736K	possibly damaging	Het
Agtpbp1	C	T	13: 59,609,884 (GRCm39)	W1082*	probably null	Het
Ap3b2	T	G	7: 81,113,546 (GRCm39)	M888L	unknown	Het
Arhgap35	C	A	7: 16,295,549 (GRCm39)	R1172L	possibly damaging	Het
Arrdc3	T	A	13: 81,041,506 (GRCm39)	D402E	probably benign	Het
Ccdc14	T	C	16: 34,511,118 (GRCm39)	F31L	possibly damaging	Het
Cd5l	T	G	3: 87,274,932 (GRCm39)	L157R	probably benign	Het
Cfap210	A	T	2: 69,606,510 (GRCm39)	I302K	probably benign	Het
Chmp2a	T	A	7: 12,766,645 (GRCm39)	Q91L	possibly damaging	Het
Col12a1	A	G	9: 79,548,729 (GRCm39)		probably null	Het
Ctdsp1	G	T	1: 74,434,126 (GRCm39)	R201L	possibly damaging	Het
Dhx15	C	T	5: 52,342,198 (GRCm39)	R40H	probably damaging	Het
Dnph1	A	G	17: 46,809,860 (GRCm39)	Y134C	probably damaging	Het
Foxo1	T	A	3: 52,253,301 (GRCm39)	V488D	probably benign	Het
Gcn1	C	A	5: 115,742,944 (GRCm39)	N1538K	probably benign	Het
Gldc	T	A	19: 30,111,686 (GRCm39)	E500V	probably benign	Het
Hhip	G	A	8: 80,701,743 (GRCm39)	T597I	probably benign	Het
Hmgn1	A	G	16: 95,928,509 (GRCm39)		probably null	Het
Ifi205	A	T	1: 173,844,988 (GRCm39)	S265T	possibly damaging	Het
Igkv1-131	T	C	6: 67,743,753 (GRCm39)	M2V	probably benign	Het
Irgm2	T	G	11: 58,111,280 (GRCm39)	S324A	probably damaging	Het
Jarid2	C	G	13: 45,064,727 (GRCm39)	D937E	possibly damaging	Het
Jrkl	A	T	9: 13,245,404 (GRCm39)	W86R	probably damaging	Het
Kbtbd3	A	G	9: 4,330,584 (GRCm39)	I319M	probably benign	Het
Klhl7	T	C	5: 24,364,465 (GRCm39)	Y500H	probably damaging	Het
Lats1	C	T	10: 7,578,052 (GRCm39)	A392V	probably benign	Het
Llgl1	G	T	11: 60,600,402 (GRCm39)	A584S	probably benign	Het
Macf1	G	T	4: 123,403,686 (GRCm39)	S560Y	probably damaging	Het
Or4c11	C	T	2: 88,695,795 (GRCm39)	P282L	possibly damaging	Het
Or8c10	T	A	9: 38,279,378 (GRCm39)	C169S	probably damaging	Het
Pde10a	G	A	17: 9,181,791 (GRCm39)	C498Y	possibly damaging	Het
Pde4dip	A	G	3: 97,659,123 (GRCm39)		probably null	Het
Pdhx	G	A	2: 102,852,561 (GRCm39)	P434L	probably damaging	Het
Pdlim3	T	C	8: 46,338,711 (GRCm39)		probably null	Het
Pik3c3	T	C	18: 30,427,483 (GRCm39)		probably null	Het
Prkag1	T	C	15: 98,711,900 (GRCm39)	K242R	possibly damaging	Het
Rap1b	A	G	10: 117,654,391 (GRCm39)	S150P	possibly damaging	Het
Scn4a	A	G	11: 106,217,076 (GRCm39)	S1102P	probably damaging	Het
Scrib	A	G	15: 75,921,108 (GRCm39)	Y1332H	probably damaging	Het
Sim1	A	G	10: 50,772,165 (GRCm39)	E58G	probably benign	Het
Slc13a1	C	T	6: 24,097,578 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,425,444 (GRCm39)	V380A	probably damaging	Het
Slc5a4b	G	T	10: 75,917,165 (GRCm39)	Y290*	probably null	Het
Slco4c1	A	G	1: 96,764,633 (GRCm39)	F480L	probably damaging	Het
Srcap	T	C	7: 127,121,162 (GRCm39)	V146A	unknown	Het
Ssc5d	T	A	7: 4,936,432 (GRCm39)	D559E	probably damaging	Het
Sstr5	A	C	17: 25,710,584 (GRCm39)	I215S	probably damaging	Het
Stambpl1	G	A	19: 34,212,634 (GRCm39)	C268Y	probably benign	Het
Stard3nl	C	A	13: 19,560,809 (GRCm39)		probably benign	Het
Sycp3	T	C	10: 88,299,734 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,009,349 (GRCm39)	M2417L	possibly damaging	Het
Tenm4	T	G	7: 96,473,080 (GRCm39)	Y959D	probably damaging	Het
Tmem132d	T	A	5: 127,869,570 (GRCm39)	D588V	possibly damaging	Het
Tnfrsf26	T	C	7: 143,172,130 (GRCm39)	E60G	possibly damaging	Het
Topbp1	A	G	9: 103,205,767 (GRCm39)	R802G	probably benign	Het
Trmu	T	C	15: 85,781,096 (GRCm39)	V360A	probably benign	Het
Tshz2	G	A	2: 169,726,562 (GRCm39)	C386Y	probably damaging	Het
Ttn	A	T	2: 76,700,771 (GRCm39)	D61E		Het
Upf1	T	C	8: 70,792,674 (GRCm39)	T345A	probably benign	Het
Vmn2r23	T	A	6: 123,718,782 (GRCm39)	C712S	probably damaging	Het
Vmn2r44	C	T	7: 8,371,091 (GRCm39)	V652I	probably benign	Het
Wfdc1	T	C	8: 120,393,302 (GRCm39)	V8A	probably benign	Het
Xrn1	A	G	9: 95,880,274 (GRCm39)	Y738C	probably benign	Het
Zfp618	T	G	4: 63,051,511 (GRCm39)	V764G	probably damaging	Het
Znfx1	A	T	2: 166,898,261 (GRCm39)	M221K	probably damaging	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
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
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'- ATTGTATCCTATCACCCGCAG -3'
(R):5'- TGGTGTTCAATTAGGTCAGCC -3'

Sequencing Primer
(F):5'- CGCAGGTCTGGCTCATTATTAG -3'
(R):5'- CAATTAGGTCAGCCGCTACTTTGATG -3'

Posted On

2022-02-07