Mutagenetix > Incidental Mutation

Incidental Mutation 'R1676:Cdc14b'

188113

Institutional Source

Beutler Lab

Gene Symbol

Cdc14b

Ensembl Gene

ENSMUSG00000033102

Gene Name

CDC14 cell division cycle 14B

Synonyms

A530086E13Rik, 2810432N10Rik

MMRRC Submission

039712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.240) question?

Stock #

R1676 (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 64373416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 119 (I119N)

Ref Sequence

ENSEMBL: ENSMUSP00000105391 (fasta)

Gene Model

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

AlphaFold

Q6PFY9

Predicted Effect

probably benign
Transcript: ENSMUST00000039318
AA Change: I156N

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000046003
Gene: ENSMUSG00000033102
AA Change: I156N

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

possibly damaging
Transcript: ENSMUST00000109769
AA Change: I119N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105391
Gene: ENSMUSG00000033102
AA Change: I119N

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: I156N

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105392
Gene: ENSMUSG00000033102
AA Change: I156N

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: I156N

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221437

Predicted Effect

probably benign
Transcript: ENSMUST00000221634
AA Change: I156N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	T	11: 58,771,819 (GRCm39)	A434S	possibly damaging	Het
Abhd8	T	A	8: 71,914,517 (GRCm39)	D37V	probably damaging	Het
Acvr2a	G	A	2: 48,763,095 (GRCm39)	S97N	probably benign	Het
Ampd3	T	A	7: 110,394,940 (GRCm39)	H296Q	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Cap2	T	G	13: 46,791,335 (GRCm39)	H167Q	probably damaging	Het
Car8	A	G	4: 8,185,616 (GRCm39)	L180S	probably damaging	Het
Casp8	T	A	1: 58,883,575 (GRCm39)	I314N	probably damaging	Het
Cavin2	T	A	1: 51,340,330 (GRCm39)	S336T	probably benign	Het
Cemip	T	A	7: 83,613,246 (GRCm39)	I651F	possibly damaging	Het
Cfap57	T	A	4: 118,453,137 (GRCm39)	D522V	probably damaging	Het
Clrn3	A	T	7: 135,120,307 (GRCm39)	V93D	probably damaging	Het
Crppa	T	C	12: 36,526,720 (GRCm39)	C170R	probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
D5Ertd579e	A	G	5: 36,773,453 (GRCm39)	V314A	probably benign	Het
Dchs1	C	T	7: 105,404,128 (GRCm39)	V2805I	probably benign	Het
Dsp	A	T	13: 38,377,350 (GRCm39)	K1712*	probably null	Het
Emilin2	T	C	17: 71,581,085 (GRCm39)	D547G	probably benign	Het
Erbb3	T	C	10: 128,419,117 (GRCm39)	H248R	probably benign	Het
Erich3	A	G	3: 154,468,260 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,151,701 (GRCm39)	T2518A	probably damaging	Het
Fzd2	G	A	11: 102,496,707 (GRCm39)	V384M	probably damaging	Het
Gpc5	T	A	14: 115,607,510 (GRCm39)	S371T	probably damaging	Het
Hbb-bh2	T	C	7: 103,488,362 (GRCm39)	K145R	probably null	Het
Hectd1	G	T	12: 51,791,571 (GRCm39)	P2558Q	probably damaging	Het
Hgsnat	C	T	8: 26,444,633 (GRCm39)		probably null	Het
Hirip3	T	C	7: 126,462,647 (GRCm39)		probably null	Het
Itpkc	T	C	7: 26,907,706 (GRCm39)	D666G	probably damaging	Het
Jmjd1c	T	A	10: 67,060,588 (GRCm39)	D693E	probably benign	Het
Katnbl1	T	C	2: 112,236,454 (GRCm39)	L60P	probably damaging	Het
Kcna1	T	A	6: 126,619,645 (GRCm39)	E225V	probably damaging	Het
Kcnj6	T	A	16: 94,633,443 (GRCm39)	M223L	probably damaging	Het
Kcnk7	G	T	19: 5,757,006 (GRCm39)	V332F	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Mdga2	C	A	12: 66,615,546 (GRCm39)	G618V	probably damaging	Het
Mdga2	C	A	12: 66,615,547 (GRCm39)	G618*	probably null	Het
Morc2b	T	C	17: 33,354,955 (GRCm39)	E939G	possibly damaging	Het
Mstn	T	A	1: 53,101,224 (GRCm39)	D100E	probably benign	Het
Mthfd1l	G	A	10: 4,033,877 (GRCm39)		probably null	Het
Muc20	T	A	16: 32,614,649 (GRCm39)	T243S	probably damaging	Het
Myo1d	A	T	11: 80,575,247 (GRCm39)	N156K	probably damaging	Het
Myo7a	A	G	7: 97,748,679 (GRCm39)		probably null	Het
Naa35	A	T	13: 59,760,490 (GRCm39)	Q274L	probably damaging	Het
Ncam1	G	A	9: 49,468,472 (GRCm39)	T329I	probably damaging	Het
Nisch	T	C	14: 30,902,859 (GRCm39)		probably benign	Het
Nlrp1b	A	T	11: 71,073,637 (GRCm39)	W69R	probably benign	Het
Nrap	T	A	19: 56,323,687 (GRCm39)	H1294L	probably damaging	Het
Nsun6	T	A	2: 15,052,024 (GRCm39)	R56*	probably null	Het
Nudt1	A	G	5: 140,320,378 (GRCm39)		probably null	Het
Nxph4	T	G	10: 127,362,077 (GRCm39)	K271N	probably damaging	Het
Or1af1	A	T	2: 37,109,653 (GRCm39)	R51*	probably null	Het
Or4a66	T	G	2: 88,531,661 (GRCm39)	H4P	probably benign	Het
Or51e2	T	A	7: 102,391,605 (GRCm39)	I202F	probably damaging	Het
Or52a20	T	C	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Otud6b	T	A	4: 14,825,617 (GRCm39)	N71I	probably damaging	Het
Parp8	T	A	13: 117,014,064 (GRCm39)	D623V	probably damaging	Het
Pcdhb5	T	C	18: 37,453,805 (GRCm39)	S62P	probably benign	Het
Ppp1r12b	A	G	1: 134,705,190 (GRCm39)	S833P	probably damaging	Het
Ppp1r1a	T	G	15: 103,441,915 (GRCm39)	D51A	probably damaging	Het
Prag1	C	A	8: 36,570,052 (GRCm39)	P212T	probably damaging	Het
Prxl2b	C	T	4: 154,981,520 (GRCm39)	V186I	probably benign	Het
Ptdss1	A	G	13: 67,081,701 (GRCm39)	T44A	probably damaging	Het
Rab14	T	C	2: 35,076,735 (GRCm39)	H83R	possibly damaging	Het
Rapgef3	C	T	15: 97,659,063 (GRCm39)	G101E	probably benign	Het
Rimbp3	T	A	16: 17,028,977 (GRCm39)	D800E	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Selenbp1	A	G	3: 94,851,854 (GRCm39)	D465G	probably damaging	Het
Slc28a2b	T	C	2: 122,352,340 (GRCm39)	S366P	probably damaging	Het
Slc29a1	T	C	17: 45,899,936 (GRCm39)	D251G	probably damaging	Het
Slc6a11	G	T	6: 114,224,627 (GRCm39)	V604F	probably benign	Het
Sltm	T	A	9: 70,480,929 (GRCm39)	D260E	probably damaging	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
St6gal2	T	C	17: 55,803,396 (GRCm39)		probably null	Het
Tc2n	A	G	12: 101,655,251 (GRCm39)	S235P	probably damaging	Het
Tenm3	T	A	8: 48,870,154 (GRCm39)	N213I	possibly damaging	Het
Ticam2	T	C	18: 46,693,677 (GRCm39)	T137A	probably damaging	Het
Ttn	TCCC	TCCCC	2: 76,573,251 (GRCm39)		probably null	Het
Tyk2	G	A	9: 21,026,545 (GRCm39)	Q684*	probably null	Het
Ubqln1	A	G	13: 58,327,205 (GRCm39)	F478S	possibly damaging	Het
Uckl1	G	A	2: 181,216,711 (GRCm39)	T78I	probably damaging	Het
Uhmk1	A	G	1: 170,027,581 (GRCm39)	V372A	probably damaging	Het
Unc5c	G	A	3: 141,463,598 (GRCm39)	V240I	possibly damaging	Het
Ush2a	T	C	1: 188,460,782 (GRCm39)	L2681P	probably damaging	Het
Vmn2r1	C	T	3: 63,997,603 (GRCm39)	Q420*	probably null	Het
Vmn2r101	A	T	17: 19,832,184 (GRCm39)	T727S	probably benign	Het
Vmn2r79	A	G	7: 86,651,839 (GRCm39)	T413A	probably benign	Het
Vps13c	T	C	9: 67,834,244 (GRCm39)	V1637A	probably benign	Het
Xpc	A	G	6: 91,469,929 (GRCm39)	V765A	possibly damaging	Het
Zbtb18	T	G	1: 177,274,913 (GRCm39)		probably null	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	Het
Zfp735	A	G	11: 73,602,301 (GRCm39)	N415S	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
R1024:Cdc14b	UTSW	13	64,363,490 (GRCm39)	missense	probably damaging	1.00
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'- GTTCTCAGCAAAGTCCGACTCCAC -3'
(R):5'- ACGCTGCATTTCTGGGCACAAG -3'

Sequencing Primer
(F):5'- GCATGAgtgtggtgtgtgtg -3'
(R):5'- TCTCTGACAGGTTGAGACAAGC -3'

Posted On

2014-05-09