Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Cdc14a'

352335

Institutional Source

Beutler Lab

Gene Symbol

Cdc14a

Ensembl Gene

ENSMUSG00000033502

Gene Name

CDC14 cell division cycle 14A

Synonyms

A830059A17Rik, CDC14a1, CDC14A2, Cdc14

MMRRC Submission

041915-MU

Accession Numbers

Essential gene?

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

Stock #

R4655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116066202-116222390 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116122136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 228 (H228L)

Ref Sequence

ENSEMBL: ENSMUSP00000102100 (fasta)

Gene Model

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

AlphaFold

Q6GQT0

Predicted Effect

probably damaging
Transcript: ENSMUST00000090464
AA Change: H277L

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

SMART Domains

Protein: ENSMUSP00000087950
Gene: ENSMUSG00000033502
AA Change: H277L

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: H228L

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

SMART Domains

Protein: ENSMUSP00000102100
Gene: ENSMUSG00000033502
AA Change: H228L

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

probably benign
Transcript: ENSMUST00000197830

Meta Mutation Damage Score

0.9362

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cux2	G	A	5: 122,023,997 (GRCm39)	T92M	possibly damaging	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	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
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'- CCACCAAGGCGATTAATCCTTTC -3'
(R):5'- TGTAGGTTACCCTCTCCACG -3'

Sequencing Primer
(F):5'- CAAGGCGATTAATCCTTTCTTTAGGG -3'
(R):5'- AGCCTACTTTCCATACTTCAAAAAG -3'

Posted On

2015-10-08