Mutagenetix > Incidental Mutation

Incidental Mutation 'R1024:Cdc14b'

94795

Institutional Source

Beutler Lab

Gene Symbol

Cdc14b

Ensembl Gene

ENSMUSG00000033102

Gene Name

CDC14 cell division cycle 14B

Synonyms

A530086E13Rik, 2810432N10Rik

MMRRC Submission

039126-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R1024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64337082-64423104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64363490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 257 (V257E)

Ref Sequence

ENSEMBL: ENSMUSP00000152388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039318] [ENSMUST00000109769] [ENSMUST00000109770] [ENSMUST00000221139] [ENSMUST00000221634]

AlphaFold

Q6PFY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000039318
AA Change: V257E

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

SMART Domains

Protein: ENSMUSP00000046003
Gene: ENSMUSG00000033102
AA Change: V257E

Domain	Start	End	E-Value	Type
low complexity region	15	34	N/A	INTRINSIC
Pfam:DSPn	51	189	6.1e-57	PFAM
Pfam:DSPc	240	365	9.2e-17	PFAM
Pfam:Y_phosphatase	244	365	1e-7	PFAM
transmembrane domain	445	467	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109769
AA Change: V220E

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

SMART Domains

Protein: ENSMUSP00000105391
Gene: ENSMUSG00000033102
AA Change: V220E

Domain	Start	End	E-Value	Type
Pfam:DSPn	12	152	2.5e-58	PFAM
Pfam:DSPc	203	328	8e-17	PFAM
Pfam:Y_phosphatase	206	328	8.9e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109770
AA Change: V257E

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

SMART Domains

Protein: ENSMUSP00000105392
Gene: ENSMUSG00000033102
AA Change: V257E

Domain	Start	End	E-Value	Type
low complexity region	15	34	N/A	INTRINSIC
Pfam:DSPn	51	189	3.4e-57	PFAM
Pfam:DSPc	240	365	2.8e-16	PFAM
Pfam:Y_phosphatase	252	364	2.4e-7	PFAM
transmembrane domain	445	467	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000221139
AA Change: V257E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221567

Predicted Effect

probably damaging
Transcript: ENSMUST00000221634
AA Change: V257E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223116

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

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. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature aging, including premature cataracts and kyphosis; reduced fertility, particularly in female mice; and impaired contextual conditioning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,327,157 (GRCm39)	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Cacna2d2	T	C	9: 107,404,249 (GRCm39)		probably null	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Ccm2	T	A	11: 6,520,119 (GRCm39)	Y56*	probably null	Het
Cdca8	A	C	4: 124,815,798 (GRCm39)	S171R	probably benign	Het
Cep192	C	T	18: 67,971,125 (GRCm39)	T1042I	probably benign	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,222,513 (GRCm39)	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,892,626 (GRCm39)	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,298,138 (GRCm39)	I561V	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Dsel	A	G	1: 111,788,403 (GRCm39)	S711P	probably damaging	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
Gja8	A	T	3: 96,826,740 (GRCm39)	F307L	probably benign	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hnrnpd	C	A	5: 100,114,016 (GRCm39)	*87L	probably null	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Izumo1	A	G	7: 45,276,598 (GRCm39)	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,375,999 (GRCm39)	N585S	probably null	Het
Marchf2	C	A	17: 33,928,762 (GRCm39)	G45C	probably damaging	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,825,334 (GRCm39)		probably null	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nphs1	G	T	7: 30,173,702 (GRCm39)	S939I	probably damaging	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Nutm1	A	T	2: 112,080,274 (GRCm39)	I547N	probably benign	Het
Oog2	A	C	4: 143,922,856 (GRCm39)	T374P	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Or8b54	C	A	9: 38,686,631 (GRCm39)	L27I	probably damaging	Het
Otud4	T	A	8: 80,390,722 (GRCm39)	M413K	probably benign	Het
Pear1	A	G	3: 87,667,606 (GRCm39)		probably benign	Het
Pla2g3	G	A	11: 3,438,551 (GRCm39)	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,716,917 (GRCm39)	T334A	probably benign	Het
Ppl	G	A	16: 4,917,864 (GRCm39)	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Rfpl4	G	T	7: 5,113,517 (GRCm39)	D215E	probably damaging	Het
Rnf146	T	A	10: 29,223,092 (GRCm39)	R265*	probably null	Het
Rpe65	T	C	3: 159,312,122 (GRCm39)	I207T	probably benign	Het
Rptn	A	G	3: 93,305,532 (GRCm39)	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,233,738 (GRCm39)	C121S	probably damaging	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,524,245 (GRCm39)	I6V	probably benign	Het
Slc25a36	A	G	9: 96,961,254 (GRCm39)	Y261H	probably damaging	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stk39	T	C	2: 68,240,390 (GRCm39)	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vill	T	C	9: 118,895,892 (GRCm39)	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het
Wdfy4	T	C	14: 32,801,923 (GRCm39)	T1912A	possibly damaging	Het

Other mutations in Cdc14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00778:Cdc14b	APN	13	64,363,470 (GRCm39)	missense	probably damaging	1.00
IGL00816:Cdc14b	APN	13	64,353,217 (GRCm39)	missense	probably benign	0.10
IGL02569:Cdc14b	APN	13	64,373,428 (GRCm39)	missense	probably benign	0.36
IGL02634:Cdc14b	APN	13	64,364,117 (GRCm39)	splice site	probably benign
IGL02897:Cdc14b	APN	13	64,395,067 (GRCm39)	missense	probably benign	0.00
R0390:Cdc14b	UTSW	13	64,358,006 (GRCm39)	unclassified	probably benign
R0542:Cdc14b	UTSW	13	64,391,497 (GRCm39)	missense	probably benign	0.01
R1022:Cdc14b	UTSW	13	64,363,490 (GRCm39)	missense	probably damaging	1.00
R1676:Cdc14b	UTSW	13	64,373,416 (GRCm39)	missense	possibly damaging	0.93
R1945:Cdc14b	UTSW	13	64,367,704 (GRCm39)	missense	probably damaging	1.00
R1964:Cdc14b	UTSW	13	64,363,351 (GRCm39)	missense	probably damaging	1.00
R3162:Cdc14b	UTSW	13	64,394,422 (GRCm39)	splice site	probably benign
R4359:Cdc14b	UTSW	13	64,396,225 (GRCm39)	missense	probably benign	0.27
R4598:Cdc14b	UTSW	13	64,395,088 (GRCm39)	missense	probably benign
R4716:Cdc14b	UTSW	13	64,357,014 (GRCm39)	missense	probably damaging	1.00
R6196:Cdc14b	UTSW	13	64,353,338 (GRCm39)	intron	probably benign
R6219:Cdc14b	UTSW	13	64,353,338 (GRCm39)	intron	probably benign
R6361:Cdc14b	UTSW	13	64,364,023 (GRCm39)	splice site	probably null
R6480:Cdc14b	UTSW	13	64,373,464 (GRCm39)	critical splice acceptor site	probably null
R6565:Cdc14b	UTSW	13	64,373,444 (GRCm39)	missense	probably benign	0.01
R6692:Cdc14b	UTSW	13	64,363,377 (GRCm39)	missense	probably damaging	0.98
R7204:Cdc14b	UTSW	13	64,358,012 (GRCm39)	missense	possibly damaging	0.83
R7327:Cdc14b	UTSW	13	64,373,461 (GRCm39)	missense	probably damaging	1.00
R7464:Cdc14b	UTSW	13	64,344,489 (GRCm39)	nonsense	probably null
R7639:Cdc14b	UTSW	13	64,353,143 (GRCm39)	missense	possibly damaging	0.96
R7687:Cdc14b	UTSW	13	64,357,007 (GRCm39)	missense	probably benign	0.15
R7949:Cdc14b	UTSW	13	64,338,212 (GRCm39)	splice site	probably null
R8170:Cdc14b	UTSW	13	64,363,549 (GRCm39)	splice site	probably null
R9047:Cdc14b	UTSW	13	64,368,758 (GRCm39)	intron	probably benign
Z1176:Cdc14b	UTSW	13	64,422,483 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

Posted On

2014-01-05