Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01671:Cdc7'

103483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdc7

Ensembl Gene

ENSMUSG00000029283

Gene Name

cell division cycle 7

Synonyms

Cdc7l1, muCdc7, Cdc7

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01671

Quality Score

Status

Chromosome

Chromosomal Location

107112188-107132298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 107131111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 529 (P529S)

Ref Sequence

ENSEMBL: ENSMUSP00000113385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031221] [ENSMUST00000076467] [ENSMUST00000117196] [ENSMUST00000118261] [ENSMUST00000129938]

AlphaFold

Q9Z0H0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031221
AA Change: P529S

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

SMART Domains

Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283
AA Change: P529S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	52	212	1.7e-14	PFAM
Pfam:Pkinase	52	216	4.4e-27	PFAM
Pfam:Pkinase	351	559	1.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000076467
AA Change: P490S

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

SMART Domains

Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283
AA Change: P490S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	52	214	1.7e-14	PFAM
Pfam:Pkinase	52	227	1.1e-25	PFAM
Pfam:Pkinase	314	520	2.5e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117196
AA Change: P497S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283
AA Change: P497S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	52	214	1e-14	PFAM
Pfam:Pkinase	52	227	6.6e-26	PFAM
Pfam:Pkinase	313	527	4.5e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118261
AA Change: P529S

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

SMART Domains

Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283
AA Change: P529S

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	52	214	1.2e-14	PFAM
Pfam:Pkinase	52	227	7.4e-26	PFAM
Pfam:Pkinase	345	559	5.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123546

Predicted Effect

probably benign
Transcript: ENSMUST00000129938

SMART Domains

Protein: ENSMUSP00000119612
Gene: ENSMUSG00000029283

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	52	214	5.4e-15	PFAM
Pfam:Pkinase	52	227	3.4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140378

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E3.5-E6.5. In conjunction with a Trp53-null allele, double homozygous mutant embryos survive up to E8.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Defb45	T	C	2: 152,435,331 (GRCm39)	K26E	probably benign	Het
Dnajb8	T	C	6: 88,199,902 (GRCm39)	L146S	probably benign	Het
Egln1	T	C	8: 125,637,454 (GRCm39)	D399G	probably benign	Het
Ephb1	A	T	9: 101,873,986 (GRCm39)	C563S	probably damaging	Het
Gad2	T	A	2: 22,513,711 (GRCm39)	Y49*	probably null	Het
Gga2	A	G	7: 121,594,079 (GRCm39)	S470P	probably benign	Het
Gm21276	G	T	7: 38,464,151 (GRCm39)		noncoding transcript	Het
Gm3115	G	A	14: 4,084,189 (GRCm38)	C9Y	probably benign	Het
H2-M1	T	C	17: 36,981,330 (GRCm39)	E235G	probably damaging	Het
Hjv	T	C	3: 96,435,807 (GRCm39)	V355A	probably damaging	Het
Hsp90b1	C	T	10: 86,540,189 (GRCm39)	G41S	probably benign	Het
Mccc1	T	C	3: 36,018,609 (GRCm39)	D575G	probably benign	Het
Metap2	T	C	10: 93,707,340 (GRCm39)		probably benign	Het
Myh7	T	C	14: 55,210,381 (GRCm39)	T1775A	probably damaging	Het
Or2aj5	A	G	16: 19,424,671 (GRCm39)	I249T	probably benign	Het
Or5b3	T	A	19: 13,388,255 (GRCm39)	F107L	probably benign	Het
Or8g21	A	G	9: 38,906,149 (GRCm39)	V194A	probably benign	Het
Pak5	T	C	2: 135,958,293 (GRCm39)	D265G	possibly damaging	Het
Pex1	A	G	5: 3,674,088 (GRCm39)	I793V	probably benign	Het
Prkdc	A	G	16: 15,485,609 (GRCm39)	I479V	possibly damaging	Het
Rhcg	A	C	7: 79,248,299 (GRCm39)	I435S	probably benign	Het
Slc9c1	A	T	16: 45,380,678 (GRCm39)	T535S	probably benign	Het
Stab2	T	C	10: 86,805,141 (GRCm39)	D279G	possibly damaging	Het
Wdr83	T	C	8: 85,802,448 (GRCm39)		probably benign	Het

Other mutations in Cdc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00642:Cdc7	APN	5	107,116,726 (GRCm39)	missense	probably benign
IGL03373:Cdc7	APN	5	107,120,785 (GRCm39)	splice site	probably benign
R0179:Cdc7	UTSW	5	107,112,905 (GRCm39)	missense	probably benign	0.02
R0563:Cdc7	UTSW	5	107,120,776 (GRCm39)	splice site	probably benign
R1621:Cdc7	UTSW	5	107,112,920 (GRCm39)	missense	probably benign
R1970:Cdc7	UTSW	5	107,120,940 (GRCm39)	splice site	probably benign
R2044:Cdc7	UTSW	5	107,130,998 (GRCm39)	missense	probably benign
R2993:Cdc7	UTSW	5	107,121,764 (GRCm39)	missense	probably benign
R3110:Cdc7	UTSW	5	107,122,564 (GRCm39)	critical splice donor site	probably null
R3112:Cdc7	UTSW	5	107,122,564 (GRCm39)	critical splice donor site	probably null
R4700:Cdc7	UTSW	5	107,121,707 (GRCm39)	missense	probably benign	0.00
R5396:Cdc7	UTSW	5	107,117,163 (GRCm39)	splice site	probably null
R6217:Cdc7	UTSW	5	107,120,660 (GRCm39)	missense	probably damaging	1.00
R6258:Cdc7	UTSW	5	107,117,093 (GRCm39)	missense	probably damaging	1.00
R6285:Cdc7	UTSW	5	107,130,925 (GRCm39)	missense	probably benign	0.00
R6609:Cdc7	UTSW	5	107,120,924 (GRCm39)	missense	probably benign	0.04
R7828:Cdc7	UTSW	5	107,120,816 (GRCm39)	missense	possibly damaging	0.67
R8518:Cdc7	UTSW	5	107,120,864 (GRCm39)	missense	probably damaging	1.00
R9748:Cdc7	UTSW	5	107,123,405 (GRCm39)	missense	possibly damaging	0.82
V8831:Cdc7	UTSW	5	107,116,776 (GRCm39)	missense	probably benign	0.01

Posted On

2014-01-21