Mutagenetix > Incidental Mutation

Incidental Mutation 'R1472:Cdc25a'

165010

Institutional Source

Beutler Lab

Gene Symbol

Cdc25a

Ensembl Gene

ENSMUSG00000032477

Gene Name

cell division cycle 25A

Synonyms

D9Ertd393e

MMRRC Submission

039525-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1472 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

109704647-109722963 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109705157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 34 (S34P)

Ref Sequence

ENSEMBL: ENSMUSP00000142819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094324] [ENSMUST00000198308] [ENSMUST00000198848]

AlphaFold

P48964

Predicted Effect

probably benign
Transcript: ENSMUST00000094324
AA Change: S34P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091882
Gene: ENSMUSG00000032477
AA Change: S34P

Domain	Start	End	E-Value	Type
Pfam:M-inducer_phosp	85	318	3.6e-69	PFAM
RHOD	356	469	2.6e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198308

SMART Domains

Protein: ENSMUSP00000142958
Gene: ENSMUSG00000032477

Domain	Start	End	E-Value	Type
Pfam:M-inducer_phosp	24	258	1.2e-88	PFAM
RHOD	295	408	5.97e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198848
AA Change: S34P

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CDC25A is a member of the CDC25 family of phosphatases. CDC25A is required for progression from G1 to the S phase of the cell cycle. It activates the cyclin-dependent kinase CDC2 by removing two phosphate groups. CDC25A is specifically degraded in response to DNA damage, which prevents cells with chromosomal abnormalities from progressing through cell division. CDC25A is an oncogene, although its exact role in oncogenesis has not been demonstrated. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit elevated levels of early erythroid progenitor cell cycling but erythropoiesis is normally unaffected. Homozygous deletion of this gene is lethal and male heterozygotes display decreased vertebral trabecular bone. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,773,313 (GRCm39)	T834M	possibly damaging	Het
Ak1	T	C	2: 32,520,313 (GRCm39)	L32P	probably damaging	Het
Ankrd24	A	G	10: 81,470,754 (GRCm39)	D61G	probably damaging	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bmp10	A	G	6: 87,410,779 (GRCm39)	I191V	probably benign	Het
C2cd6	A	T	1: 59,106,944 (GRCm39)	S294T	possibly damaging	Het
C4b	T	A	17: 34,962,743 (GRCm39)	K20*	probably null	Het
Caps2	C	T	10: 112,015,377 (GRCm39)	T139I	probably benign	Het
Cenpv	T	C	11: 62,427,121 (GRCm39)	I146V	probably benign	Het
Cep57	A	T	9: 13,732,850 (GRCm39)	F32I	probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Cntrl	T	C	2: 35,059,329 (GRCm39)		probably null	Het
Cpd	A	G	11: 76,675,224 (GRCm39)	V1299A	probably damaging	Het
Cpne6	T	C	14: 55,752,092 (GRCm39)	V283A	probably benign	Het
Crot	A	G	5: 9,016,941 (GRCm39)	C584R	probably damaging	Het
Ctsc	A	C	7: 87,930,670 (GRCm39)	H83P	possibly damaging	Het
Dido1	T	C	2: 180,302,513 (GRCm39)	N1797S	probably benign	Het
Dlgap4	C	T	2: 156,602,821 (GRCm39)	Q148*	probably null	Het
Dnah3	T	C	7: 119,670,181 (GRCm39)	D688G	probably benign	Het
Dnmt1	T	C	9: 20,843,472 (GRCm39)	E138G	probably benign	Het
Edc4	T	A	8: 106,619,460 (GRCm39)	M1396K	probably damaging	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Hsd3b6	A	T	3: 98,715,255 (GRCm39)		probably null	Het
Itpr3	T	A	17: 27,333,199 (GRCm39)	I1937N	probably benign	Het
Kcnk15	C	A	2: 163,700,127 (GRCm39)	T103K	probably damaging	Het
Kifc3	A	G	8: 95,864,541 (GRCm39)		probably null	Het
Lama3	T	A	18: 12,615,102 (GRCm39)	F1342Y	probably benign	Het
Lilra6	A	T	7: 3,915,718 (GRCm39)	M98K	probably damaging	Het
Map3k21	T	C	8: 126,668,417 (GRCm39)	S668P	probably benign	Het
Mcpt8	T	C	14: 56,319,791 (GRCm39)	T220A	probably benign	Het
Mettl13	C	T	1: 162,364,736 (GRCm39)	V548I	possibly damaging	Het
Mfsd4b4	A	G	10: 39,767,860 (GRCm39)	M411T	probably benign	Het
Mrfap1	A	G	5: 36,953,817 (GRCm39)	S41P	possibly damaging	Het
Mroh2b	A	G	15: 4,978,137 (GRCm39)	I1302V	probably benign	Het
Mrpl45	C	T	11: 97,214,681 (GRCm39)	R123*	probably null	Het
Mstn	T	A	1: 53,101,157 (GRCm39)	I78K	probably damaging	Het
Mtdh	T	C	15: 34,114,191 (GRCm39)	S168P	possibly damaging	Het
Muc15	G	T	2: 110,561,905 (GRCm39)	V114F	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Myocd	G	T	11: 65,078,330 (GRCm39)	H360Q	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nav3	T	C	10: 109,563,802 (GRCm39)	E1627G	probably damaging	Het
Nlrp14	T	C	7: 106,781,910 (GRCm39)	L369P	probably benign	Het
Nlrp6	A	G	7: 140,503,408 (GRCm39)	T505A	probably damaging	Het
Npbwr1	T	C	1: 5,986,900 (GRCm39)	S205G	probably damaging	Het
Nsmaf	G	A	4: 6,423,448 (GRCm39)	R307*	probably null	Het
Or5h19	A	T	16: 58,856,920 (GRCm39)	L60Q	probably damaging	Het
Or9i1b	T	C	19: 13,897,208 (GRCm39)	S275P	probably damaging	Het
Parp9	T	G	16: 35,774,050 (GRCm39)	S341A	possibly damaging	Het
Pdss2	A	G	10: 43,289,533 (GRCm39)	N346S	probably benign	Het
Pikfyve	T	A	1: 65,263,360 (GRCm39)	F503Y	probably damaging	Het
Polr1e	G	T	4: 45,028,026 (GRCm39)	A290S	probably damaging	Het
Ppp1r21	A	T	17: 88,866,033 (GRCm39)	H305L	probably damaging	Het
Prss47	A	G	13: 65,197,103 (GRCm39)	L117P	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rcn2	C	T	9: 55,963,537 (GRCm39)	P222L	probably benign	Het
Rnf144b	T	C	13: 47,396,361 (GRCm39)	Y233H	probably damaging	Het
Rnf17	T	C	14: 56,665,436 (GRCm39)	L196P	probably damaging	Het
Sik2	A	G	9: 50,920,111 (GRCm39)	I22T	probably damaging	Het
Sis	A	G	3: 72,796,360 (GRCm39)	V1807A	probably benign	Het
Slc1a2	T	A	2: 102,568,254 (GRCm39)	I88N	probably damaging	Het
Slc22a22	A	G	15: 57,110,916 (GRCm39)	F437S	probably benign	Het
Slc39a13	A	T	2: 90,899,050 (GRCm39)	C20*	probably null	Het
Sos2	C	T	12: 69,632,090 (GRCm39)		probably null	Het
Sst	A	G	16: 23,709,448 (GRCm39)	V16A	probably benign	Het
Stab1	C	T	14: 30,863,543 (GRCm39)	G2073D	probably benign	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sugct	A	T	13: 17,627,131 (GRCm39)	C241S	probably benign	Het
Svil	T	A	18: 5,048,950 (GRCm39)	C76S	probably benign	Het
Tcaf1	A	G	6: 42,663,382 (GRCm39)	V166A	possibly damaging	Het
Tmem131	A	T	1: 36,855,322 (GRCm39)	N801K	possibly damaging	Het
Tox3	T	C	8: 90,980,973 (GRCm39)	N277S	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Trpm2	C	A	10: 77,801,841 (GRCm39)	V75L	probably damaging	Het
Tshz1	A	C	18: 84,031,930 (GRCm39)	L826R	possibly damaging	Het
Ttn	C	T	2: 76,597,196 (GRCm39)	V19906I	probably damaging	Het
Wnt5a	C	T	14: 28,240,461 (GRCm39)	R184*	probably null	Het
Wnt5b	G	A	6: 119,410,442 (GRCm39)	R333C	probably damaging	Het
Zbtb6	T	C	2: 37,319,356 (GRCm39)	T191A	probably benign	Het
Zc3h4	A	G	7: 16,168,695 (GRCm39)	N935D	unknown	Het
Zc3h7a	C	T	16: 10,978,890 (GRCm39)	R95H	probably damaging	Het
Zfp110	T	C	7: 12,582,468 (GRCm39)	V372A	possibly damaging	Het
Zmym2	C	T	14: 57,148,640 (GRCm39)	S318L	probably benign	Het

Other mutations in Cdc25a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01658:Cdc25a	APN	9	109,705,194 (GRCm39)	splice site	probably null
IGL01761:Cdc25a	APN	9	109,720,933 (GRCm39)	intron	probably benign
IGL02808:Cdc25a	APN	9	109,712,667 (GRCm39)	splice site	probably null
IGL03241:Cdc25a	APN	9	109,713,267 (GRCm39)	splice site	probably null
P4748:Cdc25a	UTSW	9	109,713,176 (GRCm39)	splice site	probably benign
R1571:Cdc25a	UTSW	9	109,710,614 (GRCm39)	missense	possibly damaging	0.56
R1598:Cdc25a	UTSW	9	109,708,961 (GRCm39)	frame shift	probably null
R4135:Cdc25a	UTSW	9	109,710,585 (GRCm39)	missense	possibly damaging	0.62
R4301:Cdc25a	UTSW	9	109,718,810 (GRCm39)	missense	probably benign	0.23
R4386:Cdc25a	UTSW	9	109,718,801 (GRCm39)	missense	probably damaging	1.00
R5074:Cdc25a	UTSW	9	109,713,208 (GRCm39)	missense	possibly damaging	0.46
R5171:Cdc25a	UTSW	9	109,706,229 (GRCm39)	missense	probably benign	0.25
R5896:Cdc25a	UTSW	9	109,713,433 (GRCm39)	missense	probably benign	0.00
R5928:Cdc25a	UTSW	9	109,718,861 (GRCm39)	missense	probably damaging	1.00
R6223:Cdc25a	UTSW	9	109,718,842 (GRCm39)	missense	possibly damaging	0.85
R6240:Cdc25a	UTSW	9	109,713,226 (GRCm39)	missense	probably damaging	1.00
R6440:Cdc25a	UTSW	9	109,710,566 (GRCm39)	missense	probably benign
R6854:Cdc25a	UTSW	9	109,708,995 (GRCm39)	missense	probably damaging	1.00
R7219:Cdc25a	UTSW	9	109,718,154 (GRCm39)	missense	probably damaging	0.99
R7980:Cdc25a	UTSW	9	109,708,949 (GRCm39)	missense	probably damaging	1.00
R8506:Cdc25a	UTSW	9	109,720,820 (GRCm39)	missense	probably damaging	0.99
R8790:Cdc25a	UTSW	9	109,716,416 (GRCm39)	critical splice donor site	probably null
R8807:Cdc25a	UTSW	9	109,708,303 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAAGTGAAGGTTCCTTCTCTGCGAG -3'
(R):5'- GCATCAGAACCAAGTGGACAGACTC -3'

Sequencing Primer
(F):5'- GCGGTGGTCTCAAGACTCTTC -3'
(R):5'- ACCAAGTGGACAGACTCTGTTTC -3'

Posted On

2014-03-28