Mutagenetix > Incidental Mutation

Incidental Mutation 'R6908:Cxxc1'

538895

Institutional Source

Beutler Lab

Gene Symbol

Cxxc1

Ensembl Gene

ENSMUSG00000024560

Gene Name

CXXC finger protein 1

Synonyms

Cgbp, Cfp1, PHF18, 5830420C16Rik, 2410002I16Rik, CXXC finger 1 (PHD domain)

MMRRC Submission

045000-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6908 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74349283-74354564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 74353630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 546 (C546Y)

Ref Sequence

ENSEMBL: ENSMUSP00000025444 (fasta)

Gene Model

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

AlphaFold

Q9CWW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025444
AA Change: C546Y

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

SMART Domains

Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: C546Y

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

Validation Efficiency

95% (52/55)

MGI Phenotype

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	T	C	16: 56,477,668 (GRCm39)	I1197T	probably benign	Het
Atp2a1	A	G	7: 126,047,707 (GRCm39)		probably null	Het
B3glct	T	C	5: 149,619,941 (GRCm39)		probably null	Het
Bbs9	T	G	9: 22,479,019 (GRCm39)	I154S	probably damaging	Het
Brip1	T	C	11: 85,968,710 (GRCm39)	Y825C	probably damaging	Het
Ccdc186	A	T	19: 56,780,371 (GRCm39)		probably null	Het
Celf6	T	C	9: 59,511,106 (GRCm39)	V349A	probably benign	Het
Chd9	A	G	8: 91,683,044 (GRCm39)	T495A	probably benign	Het
Cxxc5	T	C	18: 35,992,268 (GRCm39)	V223A	probably damaging	Het
Dlc1	A	G	8: 37,404,841 (GRCm39)	F316S	probably benign	Het
Dnajc12	C	A	10: 63,233,104 (GRCm39)	Q82K	probably benign	Het
Dock8	G	A	19: 25,165,746 (GRCm39)	E1877K	probably damaging	Het
Epha3	T	G	16: 63,418,612 (GRCm39)	H611P	probably damaging	Het
Fpr-rs6	C	A	17: 20,402,701 (GRCm39)	C220F	probably damaging	Het
Fryl	A	G	5: 73,179,554 (GRCm39)	L2951P	probably damaging	Het
Gbp10	T	G	5: 105,368,898 (GRCm39)	T314P	probably damaging	Het
Hbb-bs	T	C	7: 103,476,741 (GRCm39)	N77D	probably benign	Het
Ints13	A	T	6: 146,456,531 (GRCm39)	D438E	probably damaging	Het
Itgb6	C	T	2: 60,480,365 (GRCm39)	V324M	probably benign	Het
Kdm7a	G	T	6: 39,121,373 (GRCm39)	L861M	possibly damaging	Het
Kirrel3	A	G	9: 34,924,697 (GRCm39)	T302A	possibly damaging	Het
Lama2	A	T	10: 26,907,192 (GRCm39)		probably null	Het
Lrp2	A	T	2: 69,302,709 (GRCm39)	C3007S	probably damaging	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Mastl	T	C	2: 23,045,988 (GRCm39)		probably benign	Het
Mcf2l	T	C	8: 13,068,919 (GRCm39)	V1087A	probably benign	Het
Mcmdc2	C	A	1: 10,001,003 (GRCm39)		probably null	Het
Ms4a3	A	G	19: 11,615,659 (GRCm39)	I39T	probably damaging	Het
Mylk	T	G	16: 34,700,643 (GRCm39)	C495G	probably benign	Het
Myo10	A	G	15: 25,804,469 (GRCm39)	D1588G	probably damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Nlrp1b	T	C	11: 71,108,122 (GRCm39)	I460V	probably benign	Het
Nmt1	T	G	11: 102,949,080 (GRCm39)	S312A	possibly damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or2d4	T	C	7: 106,543,839 (GRCm39)	Y123C	possibly damaging	Het
Paxip1	T	C	5: 27,996,222 (GRCm39)	Y19C	possibly damaging	Het
Pcdhb2	G	T	18: 37,429,577 (GRCm39)	A517S	probably damaging	Het
Pkd2l1	A	G	19: 44,140,885 (GRCm39)	I559T	probably damaging	Het
Plec	G	A	15: 76,070,081 (GRCm39)	Q806*	probably null	Het
Prss51	C	T	14: 64,333,601 (GRCm39)	A70V	probably benign	Het
Psd3	A	T	8: 68,416,829 (GRCm39)	I356K	probably benign	Het
Ptprn2	A	T	12: 116,852,508 (GRCm39)	I522F	probably benign	Het
Rab39	T	C	9: 53,617,369 (GRCm39)	D16G	probably damaging	Het
Ralgps1	T	C	2: 33,033,112 (GRCm39)	Q439R	probably benign	Het
Rapgef2	A	T	3: 79,011,370 (GRCm39)	D238E	probably benign	Het
Ripor2	G	A	13: 24,890,215 (GRCm39)	G697S	probably damaging	Het
Scn11a	A	T	9: 119,621,492 (GRCm39)	F642I	probably damaging	Het
Serinc4	G	A	2: 121,284,086 (GRCm39)	T310I	probably benign	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Slc36a3	T	C	11: 55,040,712 (GRCm39)		probably benign	Het
Smc1b	A	G	15: 84,991,211 (GRCm39)	S656P	probably damaging	Het
Sorbs1	A	G	19: 40,340,776 (GRCm39)	S455P	probably damaging	Het
Ttn	C	A	2: 76,720,202 (GRCm39)		probably benign	Het
Tyw5	T	C	1: 57,440,682 (GRCm39)	R27G	probably damaging	Het
Vmn1r209	T	C	13: 22,990,400 (GRCm39)	T97A	possibly damaging	Het

Other mutations in Cxxc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01477:Cxxc1	APN	18	74,352,985 (GRCm39)	missense	possibly damaging	0.83
IGL02250:Cxxc1	APN	18	74,352,240 (GRCm39)	missense	probably benign	0.00
IGL02640:Cxxc1	APN	18	74,354,254 (GRCm39)	missense	probably damaging	1.00
IGL02802:Cxxc1	UTSW	18	74,352,481 (GRCm39)	nonsense	probably null
P0018:Cxxc1	UTSW	18	74,353,992 (GRCm39)	missense	probably damaging	1.00
R0534:Cxxc1	UTSW	18	74,351,962 (GRCm39)	missense	probably benign	0.00
R0557:Cxxc1	UTSW	18	74,351,845 (GRCm39)	missense	possibly damaging	0.92
R0576:Cxxc1	UTSW	18	74,353,256 (GRCm39)	missense	possibly damaging	0.47
R0673:Cxxc1	UTSW	18	74,351,984 (GRCm39)	missense	possibly damaging	0.92
R1539:Cxxc1	UTSW	18	74,352,278 (GRCm39)	missense	possibly damaging	0.53
R1714:Cxxc1	UTSW	18	74,352,934 (GRCm39)	missense	probably damaging	1.00
R4763:Cxxc1	UTSW	18	74,352,484 (GRCm39)	missense	probably damaging	0.98
R5252:Cxxc1	UTSW	18	74,353,022 (GRCm39)	missense	probably benign	0.30
R5890:Cxxc1	UTSW	18	74,354,237 (GRCm39)	missense	possibly damaging	0.68
R7064:Cxxc1	UTSW	18	74,353,678 (GRCm39)	critical splice donor site	probably null
R7305:Cxxc1	UTSW	18	74,352,467 (GRCm39)	missense	probably benign	0.02
R7404:Cxxc1	UTSW	18	74,352,278 (GRCm39)	missense	possibly damaging	0.95
R7708:Cxxc1	UTSW	18	74,349,314 (GRCm39)	start gained	probably benign
R7790:Cxxc1	UTSW	18	74,350,855 (GRCm39)	missense	probably damaging	0.99
R7956:Cxxc1	UTSW	18	74,352,054 (GRCm39)	splice site	probably null
R8183:Cxxc1	UTSW	18	74,353,428 (GRCm39)	missense	probably damaging	1.00
R8337:Cxxc1	UTSW	18	74,353,910 (GRCm39)	missense	possibly damaging	0.51
R8673:Cxxc1	UTSW	18	74,351,915 (GRCm39)	missense	probably benign	0.04
R8735:Cxxc1	UTSW	18	74,350,331 (GRCm39)	missense	possibly damaging	0.93
R8799:Cxxc1	UTSW	18	74,354,128 (GRCm39)	critical splice acceptor site	probably benign
R9122:Cxxc1	UTSW	18	74,350,246 (GRCm39)	missense	probably benign
R9607:Cxxc1	UTSW	18	74,353,479 (GRCm39)	critical splice donor site	probably null
R9624:Cxxc1	UTSW	18	74,352,512 (GRCm39)	missense	possibly damaging	0.73
T0975:Cxxc1	UTSW	18	74,353,992 (GRCm39)	missense	probably damaging	1.00
X0028:Cxxc1	UTSW	18	74,351,872 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTGGGTCCATGTACCCCAC -3'
(R):5'- AGACACCAAGAGTCGGTGTG -3'

Sequencing Primer
(F):5'- TGTACCCCACACGCATCGAG -3'
(R):5'- CACCAAGAGTCGGTGTGGCTAG -3'

Posted On

2018-11-06