Mutagenetix > Incidental Mutation

Incidental Mutation 'R6217:Cdc7'

503774

Institutional Source

Beutler Lab

Gene Symbol

Cdc7

Ensembl Gene

ENSMUSG00000029283

Gene Name

cell division cycle 7

Synonyms

Cdc7l1, muCdc7, Cdc7

MMRRC Submission

044350-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107112188-107132298 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107120660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 122 (D122G)

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: D122G

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

SMART Domains

Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283
AA Change: D122G

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: D122G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283
AA Change: D122G

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: D122G

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

SMART Domains

Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283
AA Change: D122G

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: D122G

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

SMART Domains

Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283
AA Change: D122G

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

possibly damaging
Transcript: ENSMUST00000129938
AA Change: D122G

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119612
Gene: ENSMUSG00000029283
AA Change: D122G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199223

Meta Mutation Damage Score

0.6512

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Adamts20	T	C	15: 94,236,596 (GRCm39)	D808G	probably benign	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arsk	T	A	13: 76,239,935 (GRCm39)	Q46L	unknown	Het
Asnsd1	A	G	1: 53,387,187 (GRCm39)	F147L	probably benign	Het
Atp5f1a	T	A	18: 77,869,056 (GRCm39)	S427T	probably benign	Het
Atp6v1b2	A	C	8: 69,562,530 (GRCm39)		probably null	Het
AU021092	T	A	16: 5,030,050 (GRCm39)	T322S	possibly damaging	Het
Bcl7c	A	T	7: 127,307,698 (GRCm39)	M1K	probably null	Het
Cacna1i	T	C	15: 80,273,333 (GRCm39)	V1673A	probably damaging	Het
Ccdc146	A	T	5: 21,522,900 (GRCm39)		probably null	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,236,361 (GRCm39)	Q1950L	probably damaging	Het
Cutc	T	C	19: 43,748,436 (GRCm39)	L111S	probably damaging	Het
Cyp2j6	A	G	4: 96,406,398 (GRCm39)	F458L	probably damaging	Het
Ddhd1	T	C	14: 45,856,971 (GRCm39)		probably null	Het
Dstyk	T	C	1: 132,387,677 (GRCm39)	S804P	probably damaging	Het
Ech1	A	G	7: 28,531,261 (GRCm39)	D283G	possibly damaging	Het
Exosc10	A	G	4: 148,666,768 (GRCm39)		probably null	Het
Fancg	A	C	4: 43,010,084 (GRCm39)	V5G	probably benign	Het
Fbxo11	A	G	17: 88,316,332 (GRCm39)	V394A	probably benign	Het
Fcmr	C	T	1: 130,806,060 (GRCm39)	R339W	probably damaging	Het
Fhip2b	T	C	14: 70,829,198 (GRCm39)		probably null	Het
Fsip2	T	A	2: 82,818,762 (GRCm39)	L4832M	possibly damaging	Het
Gab1	A	G	8: 81,518,237 (GRCm39)	V125A	possibly damaging	Het
Gabrr1	A	T	4: 33,149,026 (GRCm39)		probably null	Het
Gon4l	T	C	3: 88,799,968 (GRCm39)	V871A	possibly damaging	Het
Hspg2	A	G	4: 137,267,559 (GRCm39)	T2056A	probably damaging	Het
Lrrc3	T	A	10: 77,736,843 (GRCm39)	T198S	probably benign	Het
Lsamp	A	T	16: 41,954,675 (GRCm39)	E174V	possibly damaging	Het
Ltbr	C	T	6: 125,284,417 (GRCm39)	V342M	probably damaging	Het
Muc16	A	T	9: 18,566,742 (GRCm39)	S1926T	unknown	Het
Ntn1	C	A	11: 68,104,158 (GRCm39)	V497F	possibly damaging	Het
Or2ag18	A	T	7: 106,405,279 (GRCm39)	L130Q	probably damaging	Het
Or5k17	T	C	16: 58,746,877 (GRCm39)	D19G	probably benign	Het
Or8g22	A	T	9: 38,958,039 (GRCm39)	*270R	probably null	Het
Osmr	T	C	15: 6,853,047 (GRCm39)	Y615C	probably damaging	Het
Pcdhgb2	T	C	18: 37,823,054 (GRCm39)	V15A	possibly damaging	Het
Pkd2l2	A	G	18: 34,547,733 (GRCm39)	N162S	probably benign	Het
Ppp1r12a	G	A	10: 108,076,045 (GRCm39)		probably null	Het
Prss59	G	A	6: 40,903,019 (GRCm39)	P118S	possibly damaging	Het
Prtg	C	T	9: 72,812,076 (GRCm39)	P899S	probably damaging	Het
Ptprn	A	T	1: 75,224,810 (GRCm39)	S912R	probably damaging	Het
Rex2	A	G	4: 147,141,931 (GRCm39)	T140A	possibly damaging	Het
Ryr2	T	G	13: 11,848,964 (GRCm39)	D339A	probably damaging	Het
Sf3b1	C	T	1: 55,046,677 (GRCm39)	R289H	probably damaging	Het
Slc17a9	A	G	2: 180,379,455 (GRCm39)	D309G	probably benign	Het
Slc4a10	A	G	2: 62,134,295 (GRCm39)	R1004G	probably benign	Het
Sprr2f	A	T	3: 92,273,366 (GRCm39)	Q55L	unknown	Het
Syne1	C	T	10: 5,243,761 (GRCm39)	G2801D	probably benign	Het
Tenm3	A	T	8: 48,746,700 (GRCm39)	V1026D	probably damaging	Het
Ticam1	A	T	17: 56,577,730 (GRCm39)	I455N	probably damaging	Het
Tmem161b	A	G	13: 84,399,363 (GRCm39)	I6M	possibly damaging	Het
Ubn1	A	G	16: 4,895,096 (GRCm39)	E714G	probably damaging	Het
Ush2a	T	G	1: 188,475,651 (GRCm39)		probably null	Het
Usp19	G	A	9: 108,377,343 (GRCm39)	V874M	probably damaging	Het
Vmn2r106	T	C	17: 20,488,501 (GRCm39)	T633A	probably benign	Het
Vmn2r75	A	T	7: 85,815,375 (GRCm39)		probably benign	Het
Zfyve27	T	C	19: 42,178,016 (GRCm39)	V386A	probably damaging	Het
Zscan20	A	T	4: 128,498,327 (GRCm39)	W24R	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
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'- GTTATAGTAACCTTGTAACTGGTGC -3'
(R):5'- ACATATATTCCCGAACTTCTTGGAAGG -3'

Sequencing Primer
(F):5'- AACCTTGTAACTGGTGCTATTTTAG -3'
(R):5'- TTCCCGAACTTCTTGGAAGGAAAGAG -3'

Posted On

2018-02-27