Mutagenetix > Incidental Mutation

Incidental Mutation 'R6285:Cdc7'

508167

Institutional Source

Beutler Lab

Gene Symbol

Cdc7

Ensembl Gene

ENSMUSG00000029283

Gene Name

cell division cycle 7

Synonyms

Cdc7l1, muCdc7, Cdc7

MMRRC Submission

044455-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6285 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107112188-107132298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107130925 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 428 (A428T)

Ref Sequence

ENSEMBL: ENSMUSP00000075792 (fasta)

Gene Model

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

AlphaFold

Q9Z0H0

Predicted Effect

probably benign
Transcript: ENSMUST00000031221
AA Change: A467T

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

SMART Domains

Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283
AA Change: A467T

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: A428T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283
AA Change: A428T

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: A435T

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

SMART Domains

Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283
AA Change: A435T

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: A467T

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

SMART Domains

Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283
AA Change: A467T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,324 (GRCm39)	M370L	probably benign	Het
Aimp1	A	G	3: 132,373,265 (GRCm39)	M225T	possibly damaging	Het
Atp8a1	T	C	5: 67,824,950 (GRCm39)	I809V	possibly damaging	Het
Bbs10	A	G	10: 111,135,622 (GRCm39)	Y245C	probably damaging	Het
Cabin1	A	T	10: 75,520,157 (GRCm39)	F1572Y	probably damaging	Het
Cd79a	A	G	7: 24,598,772 (GRCm39)	N107S	possibly damaging	Het
Cep290	A	G	10: 100,359,191 (GRCm39)	T974A	probably benign	Het
Cep350	A	T	1: 155,829,120 (GRCm39)	N261K	possibly damaging	Het
Cfap46	T	A	7: 139,241,001 (GRCm39)	D8V	probably damaging	Het
Col6a4	T	C	9: 105,952,185 (GRCm39)	D571G	probably damaging	Het
Cpe	A	C	8: 65,070,645 (GRCm39)	V200G	probably benign	Het
Ctnnd1	C	T	2: 84,444,231 (GRCm39)		probably null	Het
D5Ertd579e	A	C	5: 36,772,921 (GRCm39)	C491W	probably damaging	Het
Dek	A	G	13: 47,252,856 (GRCm39)	I183T	probably damaging	Het
Dennd1a	A	T	2: 37,742,453 (GRCm39)	H437Q	possibly damaging	Het
Dido1	C	T	2: 180,302,940 (GRCm39)	A1655T	probably benign	Het
Eva1b	A	G	4: 126,043,278 (GRCm39)	D106G	probably damaging	Het
Evc2	G	T	5: 37,581,923 (GRCm39)	S1189I	possibly damaging	Het
Faap100	A	T	11: 120,267,558 (GRCm39)	L405Q	probably damaging	Het
Fbxw15	T	A	9: 109,386,234 (GRCm39)	M249L	probably benign	Het
Gbp10	A	T	5: 105,366,326 (GRCm39)	L526Q	probably damaging	Het
Gm19402	A	C	10: 77,526,354 (GRCm39)		probably benign	Het
Gm2244	A	G	14: 19,590,865 (GRCm39)	Y141H	probably damaging	Het
Gm4181	A	T	14: 51,870,666 (GRCm39)	N98K	probably damaging	Het
Golga4	C	T	9: 118,387,695 (GRCm39)	R616*	probably null	Het
Gpank1	T	A	17: 35,343,266 (GRCm39)	S226T	probably damaging	Het
Hipk3	T	C	2: 104,301,770 (GRCm39)	M141V	probably damaging	Het
Hoxc11	T	C	15: 102,863,178 (GRCm39)	V73A	probably benign	Het
Igf1r	T	G	7: 67,653,885 (GRCm39)	I141S	possibly damaging	Het
Jak2	T	A	19: 29,273,059 (GRCm39)	F628I	probably benign	Het
Kcp	C	A	6: 29,502,364 (GRCm39)	V227L	probably benign	Het
Knl1	T	G	2: 118,902,422 (GRCm39)	C1374W	probably damaging	Het
Larp6	A	T	9: 60,645,043 (GRCm39)	R394S	probably benign	Het
Lilra5	G	A	7: 4,245,114 (GRCm39)	G253R	probably damaging	Het
Map3k4	A	G	17: 12,482,945 (GRCm39)	S591P	probably damaging	Het
Mdfic2	T	C	6: 98,215,134 (GRCm39)	D163G	probably damaging	Het
Minar2	A	G	18: 59,205,296 (GRCm39)	K28R	probably benign	Het
Mrpl16	T	A	19: 11,750,332 (GRCm39)	I72K	probably damaging	Het
Nol11	C	G	11: 107,071,860 (GRCm39)	R244S	probably benign	Het
Nr2f1	T	C	13: 78,343,782 (GRCm39)	T161A	probably benign	Het
Nrdc	G	T	4: 108,895,203 (GRCm39)	V476F	probably damaging	Het
Or10j7	G	T	1: 173,011,477 (GRCm39)	H175N	probably damaging	Het
Or10z1	A	T	1: 174,078,395 (GRCm39)	S33T	possibly damaging	Het
Or13a22	T	A	7: 140,072,626 (GRCm39)	L25Q	possibly damaging	Het
Or13m2-ps1	A	T	6: 42,777,843 (GRCm39)	H56L	probably benign	Het
P2rx1	A	G	11: 72,898,974 (GRCm39)	I62V	probably benign	Het
Pcdhgc5	A	T	18: 37,953,674 (GRCm39)	Y316F	probably benign	Het
Pecam1	T	C	11: 106,576,065 (GRCm39)	D490G	probably benign	Het
Pfkfb2	A	T	1: 130,635,299 (GRCm39)	Y87*	probably null	Het
Poldip2	A	G	11: 78,408,458 (GRCm39)		probably null	Het
Ppp2r5b	T	A	19: 6,280,566 (GRCm39)	Q304L	probably benign	Het
Pramel26	A	G	4: 143,542,609 (GRCm39)	C4R	probably damaging	Het
Psg26	A	G	7: 18,216,753 (GRCm39)	F29L	probably benign	Het
Ptk6	A	T	2: 180,838,886 (GRCm39)	L289Q	probably null	Het
Ptprt	A	T	2: 161,743,417 (GRCm39)	I508N	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,808 (GRCm39)	F406S	probably damaging	Het
Rspo3	A	G	10: 29,375,926 (GRCm39)		probably null	Het
Septin8	G	T	11: 53,425,594 (GRCm39)		probably null	Het
Sirt2	A	C	7: 28,487,471 (GRCm39)	T345P	probably benign	Het
Slc6a20b	T	C	9: 123,438,161 (GRCm39)	E205G	possibly damaging	Het
Sqstm1	G	A	11: 50,093,418 (GRCm39)	Q327*	probably null	Het
Susd3	T	A	13: 49,390,997 (GRCm39)	S98C	probably damaging	Het
Tada2b	G	A	5: 36,634,186 (GRCm39)	R56W	probably damaging	Het
Tbc1d2	A	T	4: 46,615,045 (GRCm39)	V546E	possibly damaging	Het
Tbx6	A	G	7: 126,380,740 (GRCm39)	Q21R	possibly damaging	Het
Usp24	T	G	4: 106,231,297 (GRCm39)		probably null	Het
Vinac1	T	G	2: 128,879,719 (GRCm39)	T736P	possibly damaging	Het
Vmn2r103	A	G	17: 20,032,406 (GRCm39)	T727A	probably benign	Het
Wdr48	C	T	9: 119,749,676 (GRCm39)	T531M	probably 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
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
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'- ATACGACTGAGACGTGGCAC -3'
(R):5'- AGCCTTCTGAGTTGGAAGTG -3'

Sequencing Primer
(F):5'- GCCCTCTGTCTCATCTCAGATACAG -3'
(R):5'- GCAGTCTTTGGGATGACTCCAATAG -3'

Posted On

2018-03-15