Mutagenetix > Incidental Mutations

Incidental Mutation 'R5890:Cxxc1'

457132

Institutional Source

Beutler Lab

Gene Symbol

Cxxc1

Ensembl Gene

ENSMUSG00000024560

Gene Name

CXXC finger 1 (PHD domain)

Synonyms

2410002I16Rik, 5830420C16Rik, PHF18, Cgbp, Cfp1

MMRRC Submission

044091-MU

Accession Numbers

Ncbi RefSeq: NM_028868.3; MGI:1921572

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74216131-74221491 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74221166 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 648 (D648E)

Ref Sequence

ENSEMBL: ENSMUSP00000025444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025444]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025444
AA Change: D648E

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: D648E

Domain	Start	End	E-Value	Type
PHD	28	74	1.26e-10	SMART
Pfam:zf-CXXC	164	212	2.4e-19	PFAM
low complexity region	237	253	N/A	INTRINSIC
low complexity region	272	282	N/A	INTRINSIC
low complexity region	325	364	N/A	INTRINSIC
Pfam:zf-CpG_bind_C	404	640	2.1e-108	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

MGI Phenotype

Strain: 2654854
Lethality: E1-E7
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a transcriptional activator that binds specifically to non-methylated CpG motifs through its CXXC domain. The protein is a component of the SETD1 complex, regulates gene expression and is essential for vertebrate development. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit peri-implantation lethality and failure to gastrulate. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	C	T	11: 78,273,270	Q40*	probably null	Het
Abcc9	A	G	6: 142,604,828		probably null	Het
Acsm3	C	A	7: 119,775,234	T303N	probably benign	Het
Adamts13	A	T	2: 26,986,591	R506W	probably damaging	Het
Adck5	C	T	15: 76,593,585	T166M	probably damaging	Het
Adcy8	T	A	15: 64,815,417	I413F	probably damaging	Het
Adgrl2	A	T	3: 148,859,175	D252E	probably damaging	Het
Aldh16a1	T	A	7: 45,144,545	T636S	probably benign	Het
Ampd1	C	A	3: 103,090,075	F264L	probably damaging	Het
Arhgap17	T	C	7: 123,286,758		probably benign	Het
Babam2	A	G	5: 32,064,807		probably benign	Het
Bod1l	T	A	5: 41,820,578	E1131V	probably benign	Het
Cbs	C	T	17: 31,613,219	V553M	probably damaging	Het
Cd72	T	C	4: 43,454,475	K18R	probably damaging	Het
Cep89	A	G	7: 35,429,162	Y580C	probably damaging	Het
Chrnb1	T	A	11: 69,792,729	I264F	possibly damaging	Het
Cntf	A	G	19: 12,763,993	W168R	probably damaging	Het
Cyp2c68	A	T	19: 39,712,492	L294Q	probably damaging	Het
Dab2ip	T	C	2: 35,715,402	S532P	probably damaging	Het
Defb3	G	A	8: 19,295,184	C52Y	probably damaging	Het
Dennd5a	T	G	7: 109,934,221	E114A	probably benign	Het
Dnah12	T	C	14: 26,706,884	F222L	probably benign	Het
Dock9	A	C	14: 121,668,408		probably null	Het
Fras1	A	T	5: 96,645,948	H1043L	probably benign	Het
Gamt	C	A	10: 80,259,907	R63L	possibly damaging	Het
Gm1527	A	G	3: 28,915,395	H298R	probably benign	Het
Gphb5	C	T	12: 75,415,822		probably null	Het
Greb1	A	T	12: 16,733,421	V104D	possibly damaging	Het
Hck	A	G	2: 153,129,076	D86G	probably damaging	Het
Jhy	T	A	9: 40,922,662	K321*	probably null	Het
Kcna5	C	T	6: 126,534,736	R143H	probably damaging	Het
Kif19a	G	T	11: 114,789,438	W867L	possibly damaging	Het
Map3k4	G	A	17: 12,271,416	A376V	probably damaging	Het
Mars	A	T	10: 127,298,045	M661K	probably benign	Het
Mecp2	C	T	X: 74,035,437	V496M	probably damaging	Het
Mfsd2b	A	T	12: 4,867,651	C132S	probably damaging	Het
Mfsd4a	T	C	1: 132,038,928	Y356C	probably damaging	Het
Mif4gd	G	T	11: 115,609,362	A89E	probably benign	Het
Mkln1	A	T	6: 31,490,547	E593D	probably benign	Het
Mlh1	G	T	9: 111,228,495	N749K	possibly damaging	Het
Mrgprb2	T	A	7: 48,551,959	*339C	probably null	Het
Nphp4	T	C	4: 152,547,079	V812A	probably benign	Het
Nrcam	G	T	12: 44,576,771	V1048L	probably benign	Het
Obsl1	G	A	1: 75,493,859	A856V	probably damaging	Het
Osgepl1	T	A	1: 53,318,167	F163I	probably damaging	Het
Pcdha6	C	A	18: 36,969,068	T438K	possibly damaging	Het
Pcdhb20	A	T	18: 37,505,233	M271L	probably benign	Het
Phip	T	C	9: 82,906,952	T770A	probably benign	Het
Ppm1d	A	G	11: 85,326,908	T166A	probably damaging	Het
Ptprf	A	T	4: 118,224,735	I1102K	probably benign	Het
Sbsn	T	C	7: 30,753,267	V569A	possibly damaging	Het
Skida1	T	A	2: 18,046,003		probably benign	Het
Smg1	T	A	7: 118,190,586		probably benign	Het
Sorcs2	A	G	5: 36,229,191	Y168H	probably damaging	Het
Sufu	A	T	19: 46,454,733		probably null	Het
Tbc1d24	A	T	17: 24,185,526	W215R	probably damaging	Het
Tenm4	T	C	7: 96,902,860	L2502P	probably damaging	Het
Tgm4	A	T	9: 123,061,638	E10V	probably damaging	Het
Trip11	T	C	12: 101,885,972	E611G	probably damaging	Het
Ttn	C	A	2: 76,709,899	A34248S	possibly damaging	Het
Ube3a	T	A	7: 59,272,028	N49K	probably damaging	Het
Ube3c	A	G	5: 29,658,292	D855G	possibly damaging	Het
Ugt8a	A	G	3: 125,875,553	S301P	probably benign	Het
Wdfy4	T	A	14: 33,102,577	N1295I	possibly damaging	Het
Wdr47	G	T	3: 108,610,012	G43C	probably damaging	Het
Wdtc1	A	C	4: 133,294,362	L601W	unknown	Het
Zfp236	A	G	18: 82,640,151	F614S	possibly damaging	Het
Zfp637	T	A	6: 117,845,086	D58E	possibly damaging	Het

Other mutations in Cxxc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01477:Cxxc1	APN	18	74219914	missense	possibly damaging	0.83
IGL02250:Cxxc1	APN	18	74219169	missense	probably benign	0.00
IGL02640:Cxxc1	APN	18	74221183	missense	probably damaging	1.00
IGL02802:Cxxc1	UTSW	18	74219410	nonsense	probably null
P0018:Cxxc1	UTSW	18	74220921	missense	probably damaging	1.00
R0534:Cxxc1	UTSW	18	74218891	missense	probably benign	0.00
R0557:Cxxc1	UTSW	18	74218774	missense	possibly damaging	0.92
R0576:Cxxc1	UTSW	18	74220185	missense	possibly damaging	0.47
R0673:Cxxc1	UTSW	18	74218913	missense	possibly damaging	0.92
R1539:Cxxc1	UTSW	18	74219207	missense	possibly damaging	0.53
R1714:Cxxc1	UTSW	18	74219863	missense	probably damaging	1.00
R4763:Cxxc1	UTSW	18	74219413	missense	probably damaging	0.98
R5252:Cxxc1	UTSW	18	74219951	missense	probably benign	0.30
R6908:Cxxc1	UTSW	18	74220559	missense	probably damaging	1.00
R7064:Cxxc1	UTSW	18	74220607	critical splice donor site	probably null
R7305:Cxxc1	UTSW	18	74219396	missense	probably benign	0.02
R7404:Cxxc1	UTSW	18	74219207	missense	possibly damaging	0.95
R7790:Cxxc1	UTSW	18	74217784	missense	probably damaging	0.99
T0975:Cxxc1	UTSW	18	74220921	missense	probably damaging	1.00
X0028:Cxxc1	UTSW	18	74218801	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGCTGGGAGAAGCTTCGG -3'
(R):5'- CCTTTGATAAGGGCAAACGG -3'

Sequencing Primer
(F):5'- GTGTAACCCTGGGTGTGACC -3'
(R):5'- CAAACGGAAGCCAAAACGTG -3'

Posted On

2017-02-15