Mutagenetix > Incidental Mutation

Incidental Mutation 'R0179:Cdc7'

23030

Institutional Source

Beutler Lab

Gene Symbol

Cdc7

Ensembl Gene

ENSMUSG00000029283

Gene Name

cell division cycle 7

Synonyms

Cdc7l1, muCdc7, Cdc7

MMRRC Submission

038447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0179 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

107112188-107132298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107112905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 8 (S8P)

Ref Sequence

ENSEMBL: ENSMUSP00000113385 (fasta)

Gene Model

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

AlphaFold

Q9Z0H0

Predicted Effect

probably benign
Transcript: ENSMUST00000031221
AA Change: S8P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283
AA Change: S8P

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 benign
Transcript: ENSMUST00000076467
AA Change: S8P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283
AA Change: S8P

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 benign
Transcript: ENSMUST00000117196
AA Change: S8P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283
AA Change: S8P

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 benign
Transcript: ENSMUST00000118261
AA Change: S8P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283
AA Change: S8P

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

probably benign
Transcript: ENSMUST00000129938
AA Change: S8P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000119612
Gene: ENSMUSG00000029283
AA Change: S8P

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

Meta Mutation Damage Score

0.0795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,353 (GRCm39)	S948N	probably benign	Het
Adck1	A	T	12: 88,425,942 (GRCm39)	M457L	possibly damaging	Het
Adprm	A	T	11: 66,929,051 (GRCm39)	H313Q	possibly damaging	Het
Adss1	T	C	12: 112,598,703 (GRCm39)	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,134 (GRCm39)	Q435P	possibly damaging	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Ankrd50	A	G	3: 38,509,463 (GRCm39)	V968A	possibly damaging	Het
Brf2	T	C	8: 27,615,896 (GRCm39)	D163G	possibly damaging	Het
Cd226	C	A	18: 89,225,263 (GRCm39)	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,968,636 (GRCm39)	D23G	probably benign	Het
Cdh8	C	T	8: 99,838,344 (GRCm39)	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516 (GRCm39)	F2534L	probably benign	Het
Ckb	T	C	12: 111,636,610 (GRCm39)	T255A	probably benign	Het
Cntnap5c	G	T	17: 58,076,620 (GRCm39)	W19L	probably benign	Het
Cntrl	A	G	2: 35,057,871 (GRCm39)	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cop1	A	G	1: 159,077,636 (GRCm39)	D157G	probably benign	Het
Csf2rb	A	C	15: 78,220,572 (GRCm39)	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 61,044,107 (GRCm39)	D52G	possibly damaging	Het
Dcaf7	A	T	11: 105,942,623 (GRCm39)	D190V	probably damaging	Het
Depdc5	T	A	5: 33,058,918 (GRCm39)		probably benign	Het
Dgkq	A	G	5: 108,806,066 (GRCm39)		probably benign	Het
Dhrs2	A	G	14: 55,477,933 (GRCm39)	T222A	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
E4f1	G	C	17: 24,670,411 (GRCm39)	T92S	possibly damaging	Het
Ep400	A	T	5: 110,816,515 (GRCm39)	S2669T	probably damaging	Het
Eprs1	T	G	1: 185,145,744 (GRCm39)	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,242,289 (GRCm39)	K99*	probably null	Het
Fzr1	A	T	10: 81,204,904 (GRCm39)		probably benign	Het
Gcc2	C	T	10: 58,112,472 (GRCm39)	R1001C	probably benign	Het
Gm4884	A	G	7: 40,693,252 (GRCm39)	D407G	probably benign	Het
Golga4	A	T	9: 118,389,808 (GRCm39)		probably null	Het
Gp2	T	G	7: 119,051,540 (GRCm39)	D225A	possibly damaging	Het
Gramd1a	T	A	7: 30,841,843 (GRCm39)	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,488,434 (GRCm39)	N121I	probably benign	Het
Htr6	A	T	4: 138,789,437 (GRCm39)	L276Q	probably damaging	Het
Itga9	A	T	9: 118,490,454 (GRCm39)	I262F	probably benign	Het
Lamc3	A	G	2: 31,805,096 (GRCm39)		probably benign	Het
Large1	T	C	8: 73,825,474 (GRCm39)	N200S	probably benign	Het
Lct	C	T	1: 128,255,422 (GRCm39)	V207I	probably benign	Het
Marf1	C	A	16: 13,969,040 (GRCm39)	L144F	probably damaging	Het
Morc2b	A	T	17: 33,355,956 (GRCm39)	Y605*	probably null	Het
Mtus1	G	T	8: 41,455,398 (GRCm39)	L87I	possibly damaging	Het
Muc2	A	G	7: 141,302,708 (GRCm39)	Y17C	probably damaging	Het
Myf5	T	C	10: 107,321,779 (GRCm39)	D5G	possibly damaging	Het
Nasp	C	T	4: 116,459,354 (GRCm39)	V375M	probably damaging	Het
Nr1h2	A	T	7: 44,201,689 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,155,468 (GRCm39)	Q447R	probably benign	Het
Ntn5	G	A	7: 45,335,737 (GRCm39)	G56D	probably damaging	Het
Oasl2	A	G	5: 115,048,973 (GRCm39)	R138G	probably benign	Het
Or4c29	A	T	2: 88,740,237 (GRCm39)	C167S	possibly damaging	Het
Or5b124	T	A	19: 13,610,504 (GRCm39)	F10I	probably damaging	Het
Or9k7	T	C	10: 130,046,207 (GRCm39)	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,455,612 (GRCm39)	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,424 (GRCm39)	E128G	probably damaging	Het
Prpf19	T	C	19: 10,875,172 (GRCm39)		probably benign	Het
Ptpn3	T	A	4: 57,270,118 (GRCm39)	T15S	probably benign	Het
R3hdm2	G	A	10: 127,330,975 (GRCm39)	C818Y	probably damaging	Het
Rad51d	A	G	11: 82,780,824 (GRCm39)	V39A	possibly damaging	Het
Rptor	A	T	11: 119,763,193 (GRCm39)	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,995,742 (GRCm39)	D41N	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Spata31g1	T	C	4: 42,972,214 (GRCm39)	S516P	probably benign	Het
Ssbp3	T	C	4: 106,903,585 (GRCm39)	S334P	probably damaging	Het
Suco	A	G	1: 161,703,874 (GRCm39)		probably benign	Het
Synj1	T	C	16: 90,761,519 (GRCm39)	K649R	possibly damaging	Het
Tdp2	C	T	13: 25,024,431 (GRCm39)	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,904,164 (GRCm39)		probably benign	Het
Trerf1	T	C	17: 47,627,588 (GRCm39)		noncoding transcript	Het
Trip10	T	C	17: 57,569,349 (GRCm39)		probably benign	Het
Tsen54	A	T	11: 115,712,856 (GRCm39)	S131C	probably damaging	Het
Unc5c	A	T	3: 141,523,828 (GRCm39)	R794*	probably null	Het
Vmn2r59	A	T	7: 41,696,432 (GRCm39)	Y103*	probably null	Het
Washc5	A	G	15: 59,224,379 (GRCm39)	V460A	probably benign	Het
Wdr87-ps	A	G	7: 29,235,365 (GRCm39)		noncoding transcript	Het
Whamm	A	G	7: 81,243,763 (GRCm39)	T358A	probably benign	Het
Xlr4b	C	T	X: 72,262,277 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 74,992,869 (GRCm39)		probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp27	T	A	7: 29,595,850 (GRCm39)	E38D	possibly damaging	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
IGL01671:Cdc7	APN	5	107,131,111 (GRCm39)	missense	probably damaging	1.00
IGL03373:Cdc7	APN	5	107,120,785 (GRCm39)	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ACCGTGAGTTTCTGACAGTTTTCCC -3'
(R):5'- CCTCGAATTAGAAGATGCAGACTGGC -3'

Sequencing Primer
(F):5'- CTCCAGTCGAGTGGAGTGTC -3'
(R):5'- ATGCAGACTGGCTGCCC -3'

Posted On

2013-04-16