Mutagenetix > Incidental Mutation

Incidental Mutation 'R0542:Cdc14b'

50005

Institutional Source

Beutler Lab

Gene Symbol

Cdc14b

Ensembl Gene

ENSMUSG00000033102

Gene Name

CDC14 cell division cycle 14B

Synonyms

A530086E13Rik, 2810432N10Rik

MMRRC Submission

038734-MU

Accession Numbers

Essential gene?

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

Stock #

R0542 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64337082-64423104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64391497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 124 (T124I)

Ref Sequence

ENSEMBL: ENSMUSP00000152843 (fasta)

Gene Model

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

AlphaFold

Q6PFY9

Predicted Effect

probably benign
Transcript: ENSMUST00000039318
AA Change: T124I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000046003
Gene: ENSMUSG00000033102
AA Change: T124I

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 benign
Transcript: ENSMUST00000109769
AA Change: T87I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105391
Gene: ENSMUSG00000033102
AA Change: T87I

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 benign
Transcript: ENSMUST00000109770
AA Change: T124I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000105392
Gene: ENSMUSG00000033102
AA Change: T124I

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 benign
Transcript: ENSMUST00000221139
AA Change: T124I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221437

Predicted Effect

probably benign
Transcript: ENSMUST00000221634
AA Change: T124I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	A	12: 70,210,269 (GRCm39)	N71K	possibly damaging	Het
Adgrl2	A	G	3: 148,564,854 (GRCm39)	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,721,437 (GRCm39)	S714P	probably damaging	Het
Agap3	G	A	5: 24,705,184 (GRCm39)	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 123,622,509 (GRCm39)	R448G	probably damaging	Het
Anks1b	T	C	10: 89,909,829 (GRCm39)		probably benign	Het
Caml	A	T	13: 55,770,974 (GRCm39)	Q24L	possibly damaging	Het
Clca3a2	A	G	3: 144,781,571 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,512,610 (GRCm39)		probably null	Het
Crispld1	T	C	1: 17,816,992 (GRCm39)	V183A	possibly damaging	Het
Cstdc1	A	G	2: 148,624,092 (GRCm39)	N22S	probably benign	Het
Dhx40	C	T	11: 86,695,082 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,026,761 (GRCm39)	D1956E	probably benign	Het
Dsc2	A	G	18: 20,184,283 (GRCm39)	V35A	probably damaging	Het
Dync2i2	A	G	2: 29,921,837 (GRCm39)	V508A	probably damaging	Het
Elovl2	A	G	13: 41,345,452 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,615,048 (GRCm39)		probably benign	Het
Gnaq	T	A	19: 16,196,982 (GRCm39)	I56N	probably damaging	Het
Gpr139	T	C	7: 118,744,306 (GRCm39)	D93G	probably benign	Het
Hars1	C	T	18: 36,904,234 (GRCm39)	R215H	probably benign	Het
Helz2	C	A	2: 180,873,882 (GRCm39)	W2204L	probably damaging	Het
Ift70b	A	G	2: 75,767,055 (GRCm39)	V566A	probably damaging	Het
Itgb6	A	T	2: 60,435,480 (GRCm39)	C757S	possibly damaging	Het
Kpnb1	G	A	11: 97,078,398 (GRCm39)	T5I	probably benign	Het
Krt82	T	C	15: 101,454,035 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,860,546 (GRCm39)	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,258,998 (GRCm39)	I4564T	probably benign	Het
Mblac1	A	G	5: 138,192,798 (GRCm39)	T47A	possibly damaging	Het
Med12l	G	A	3: 58,949,822 (GRCm39)	D182N	probably damaging	Het
Megf9	A	G	4: 70,353,585 (GRCm39)	I407T	probably benign	Het
Mtmr6	A	T	14: 60,529,578 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,624,907 (GRCm39)	T2173A	probably benign	Het
Mzt1	A	T	14: 99,277,938 (GRCm39)		probably benign	Het
Narf	T	C	11: 121,143,690 (GRCm39)	L444P	probably damaging	Het
Nsd1	A	T	13: 55,408,271 (GRCm39)	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,184,374 (GRCm39)	Y359C	probably damaging	Het
Olfm1	A	G	2: 28,104,640 (GRCm39)	D159G	possibly damaging	Het
Or2l13b	A	T	16: 19,348,732 (GRCm39)	*313R	probably null	Het
Pcdh1	C	T	18: 38,322,975 (GRCm39)	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,556,887 (GRCm39)	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769 (GRCm39)	N280S	probably damaging	Het
Per2	A	T	1: 91,366,054 (GRCm39)		probably null	Het
Pfkp	G	T	13: 6,672,028 (GRCm39)	C122*	probably null	Het
Plxna4	G	A	6: 32,169,232 (GRCm39)	R1322W	probably damaging	Het
Ppox	A	G	1: 171,106,818 (GRCm39)	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 55,114,588 (GRCm39)	P58L	probably benign	Het
Prr23a2	A	C	9: 98,739,086 (GRCm39)	N148T	probably benign	Het
Psd	T	C	19: 46,302,649 (GRCm39)	T842A	probably damaging	Het
Ranbp2	C	T	10: 58,314,236 (GRCm39)	A1652V	probably benign	Het
Rragd	G	A	4: 33,007,103 (GRCm39)	V144M	probably damaging	Het
Sema6a	T	G	18: 47,381,643 (GRCm39)	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,945,793 (GRCm39)		probably null	Het
Snx17	G	T	5: 31,353,895 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,928,853 (GRCm39)	M253K	possibly damaging	Het
Syt14	G	T	1: 192,613,111 (GRCm39)	T563K	probably damaging	Het
Tada3	T	C	6: 113,352,175 (GRCm39)	K85E	probably damaging	Het
Tspear	T	C	10: 77,716,921 (GRCm39)	V532A	probably benign	Het
Ttn	A	T	2: 76,723,453 (GRCm39)	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,060,437 (GRCm39)		probably benign	Het
Usp19	A	G	9: 108,371,584 (GRCm39)		probably null	Het
Vav3	G	A	3: 109,434,746 (GRCm39)	D426N	probably damaging	Het
Vezt	T	C	10: 93,842,958 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,213,655 (GRCm39)	R114L	probably benign	Het
Wwc2	C	T	8: 48,321,414 (GRCm39)	V567I	unknown	Het
Zfp423	T	C	8: 88,507,237 (GRCm39)	T911A	probably damaging	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zkscan16	A	T	4: 58,956,597 (GRCm39)	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,719,525 (GRCm39)	N515T	possibly damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	probably 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
R1022:Cdc14b	UTSW	13	64,363,490 (GRCm39)	missense	probably damaging	1.00
R1024: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

PCR Primer
(F):5'- GGTGCAAGTCTTCCTGGAGTGAATG -3'
(R):5'- TGAACTGATCCGAAGGTTGCCTG -3'

Sequencing Primer
(F):5'- CCTGGAGTGAATGATTTTCAAAGC -3'
(R):5'- TAGTATCACAGAATGGCTCCTGG -3'

Posted On

2013-06-12