Mutagenetix > Incidental Mutation

Incidental Mutation 'R5896:Cdc25a'

457525

Institutional Source

Beutler Lab

Gene Symbol

Cdc25a

Ensembl Gene

ENSMUSG00000032477

Gene Name

cell division cycle 25A

Synonyms

D9Ertd393e

MMRRC Submission

044095-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109704647-109722963 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109713433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 191 (D191G)

Ref Sequence

ENSEMBL: ENSMUSP00000142958 (fasta)

Gene Model

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

AlphaFold

P48964

Predicted Effect

probably benign
Transcript: ENSMUST00000094324
AA Change: D252G

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

SMART Domains

Protein: ENSMUSP00000091882
Gene: ENSMUSG00000032477
AA Change: D252G

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

noncoding transcript
Transcript: ENSMUST00000197945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198219

Predicted Effect

probably benign
Transcript: ENSMUST00000198308
AA Change: D191G

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

SMART Domains

Protein: ENSMUSP00000142958
Gene: ENSMUSG00000032477
AA Change: D191G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199353

Predicted Effect

unknown
Transcript: ENSMUST00000199787
AA Change: D36G

Meta Mutation Damage Score

0.0624

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

99% (86/87)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	A	T	16: 88,504,321 (GRCm39)	S159T	probably damaging	Het
2610028H24Rik	T	A	10: 76,288,664 (GRCm39)	M53K	probably benign	Het
3425401B19Rik	G	A	14: 32,383,632 (GRCm39)	Q778*	probably null	Het
Abhd16a	T	A	17: 35,310,701 (GRCm39)		probably benign	Het
Acp6	A	G	3: 97,075,810 (GRCm39)	K226R	probably benign	Het
Ankfy1	A	G	11: 72,650,811 (GRCm39)	D998G	probably damaging	Het
Apbb1	G	T	7: 105,223,432 (GRCm39)	P60T	probably damaging	Het
Apol9a	T	A	15: 77,288,705 (GRCm39)	I221F	probably benign	Het
Arhgap29	A	G	3: 121,805,736 (GRCm39)	E947G	possibly damaging	Het
B430218F22Rik	A	T	13: 118,523,934 (GRCm39)		probably benign	Het
Carmil3	ACCCCC	ACCCCCCC	14: 55,741,456 (GRCm39)		probably null	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccdc93	G	T	1: 121,390,849 (GRCm39)	V274L	possibly damaging	Het
Cimip2a	A	T	2: 25,110,578 (GRCm39)	M129L	probably benign	Het
Cmya5	A	G	13: 93,182,373 (GRCm39)		probably null	Het
Crebzf	TGGAGGAGGAGGAGGAGGA	TGGAGGAGGAGGAGGA	7: 90,092,479 (GRCm39)		probably benign	Het
Csde1	T	C	3: 102,947,859 (GRCm39)		probably benign	Het
Ctdp1	A	G	18: 80,502,003 (GRCm39)	L177P	probably damaging	Het
Dnah5	T	A	15: 28,272,206 (GRCm39)	H1003Q	probably benign	Het
Epb41l2	T	A	10: 25,369,494 (GRCm39)	N604K	probably damaging	Het
Fig4	T	A	10: 41,130,881 (GRCm39)	N465Y	possibly damaging	Het
Gemin7	G	A	7: 19,299,223 (GRCm39)	S124F	probably damaging	Het
Gli3	G	A	13: 15,900,765 (GRCm39)	R1384K	probably benign	Het
Gm12258	G	A	11: 58,750,457 (GRCm39)	C544Y	probably damaging	Het
Grm1	C	T	10: 10,956,294 (GRCm39)		probably benign	Het
H2-T15	T	A	17: 36,367,236 (GRCm39)	M329L	probably benign	Het
Hps4	C	T	5: 112,517,351 (GRCm39)	T246I	probably benign	Het
Ifngr2	A	T	16: 91,358,653 (GRCm39)	E284D	possibly damaging	Het
Impdh2	A	G	9: 108,441,165 (GRCm39)	T148A	probably benign	Het
Irx3	T	C	8: 92,527,763 (GRCm39)	S36G	probably benign	Het
Itga5	T	A	15: 103,259,514 (GRCm39)	K667N	probably benign	Het
Itgad	G	A	7: 127,773,188 (GRCm39)	C15Y	probably benign	Het
Ly75	T	G	2: 60,213,490 (GRCm39)	E29A	probably benign	Het
Magi1	T	A	6: 93,685,180 (GRCm39)	S506C	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Med23	T	C	10: 24,778,043 (GRCm39)	L797P	probably damaging	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Ncor1	G	T	11: 62,274,016 (GRCm39)	P55Q	probably damaging	Het
Odr4	A	T	1: 150,256,111 (GRCm39)	N211K	probably benign	Het
Ofcc1	T	A	13: 40,334,060 (GRCm39)	I344F	probably benign	Het
Or4a74	C	A	2: 89,439,667 (GRCm39)	V260F	probably damaging	Het
Or4d5	A	T	9: 40,012,189 (GRCm39)	M199K	probably damaging	Het
Or5d35	A	G	2: 87,855,465 (GRCm39)	Y133C	probably damaging	Het
Or5k1	G	A	16: 58,618,095 (GRCm39)	T38I	probably damaging	Het
Otub2	C	T	12: 103,369,687 (GRCm39)		probably benign	Het
Parva	A	G	7: 112,143,960 (GRCm39)	M83V	probably benign	Het
Pcdha8	T	A	18: 37,126,572 (GRCm39)	N351K	probably benign	Het
Pcdhb5	T	A	18: 37,455,732 (GRCm39)	L704*	probably null	Het
Pkd1l3	T	A	8: 110,353,468 (GRCm39)	L683H	probably damaging	Het
Plekhn1	C	T	4: 156,308,331 (GRCm39)	R288H	probably benign	Het
Polr2a	A	T	11: 69,627,086 (GRCm39)	N1457K	probably damaging	Het
Ppp1r12b	A	G	1: 134,693,719 (GRCm39)	S981P	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,648 (GRCm39)	K1062E	probably damaging	Het
Ptpre	A	T	7: 135,276,007 (GRCm39)	T498S	probably benign	Het
Pus7l	C	T	15: 94,427,332 (GRCm39)		probably null	Het
Rptn	C	T	3: 93,305,639 (GRCm39)	Q991*	probably null	Het
Rsu1	T	G	2: 13,229,170 (GRCm39)	E76A	probably damaging	Het
Septin11	T	A	5: 93,304,824 (GRCm39)	F214I	probably damaging	Het
Slc1a7	G	T	4: 107,869,587 (GRCm39)	A551S	probably benign	Het
Slc45a2	T	A	15: 11,000,941 (GRCm39)	Y13*	probably null	Het
Slc7a14	T	G	3: 31,311,719 (GRCm39)	L100F	probably damaging	Het
Slit3	A	G	11: 35,598,932 (GRCm39)	E1512G	probably damaging	Het
Stat5a	A	G	11: 100,767,883 (GRCm39)	Q458R	possibly damaging	Het
Svep1	T	C	4: 58,084,906 (GRCm39)	T1811A	possibly damaging	Het
Tarbp1	A	G	8: 127,179,667 (GRCm39)	F624L	probably benign	Het
Tfeb	T	G	17: 48,070,433 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,891,126 (GRCm39)	G490R	probably damaging	Het
Tra2b	T	C	16: 22,077,953 (GRCm39)	Y32C	probably damaging	Het
Trpv4	C	T	5: 114,760,708 (GRCm39)		probably benign	Het
Uvrag	A	T	7: 98,637,414 (GRCm39)	L138*	probably null	Het
Vwf	A	T	6: 125,655,725 (GRCm39)		probably null	Het
Wdr47	G	A	3: 108,526,322 (GRCm39)	D282N	probably damaging	Het
Xirp2	A	G	2: 67,340,290 (GRCm39)	N844D	possibly damaging	Het
Xirp2	A	G	2: 67,339,042 (GRCm39)	M428V	probably benign	Het
Znfx1	G	A	2: 166,880,920 (GRCm39)	T288I	probably damaging	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
R1472:Cdc25a	UTSW	9	109,705,157 (GRCm39)	missense	probably benign	0.00
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
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'- TTGTCATGAGGAGACCTGCAAAC -3'
(R):5'- GACGTTTAGAGCCACGACTG -3'

Sequencing Primer
(F):5'- GCAAACCTTGTAAGTTACTCGGC -3'
(R):5'- AGCCACGACTGTTGTTAGGACTC -3'

Posted On

2017-02-15