Mutagenetix > Incidental Mutation

Incidental Mutation 'R9624:Cxxc1'

725068

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9624 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74349283-74354564 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74352512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 364 (H364L)

Ref Sequence

ENSEMBL: ENSMUSP00000025444 (fasta)

Gene Model

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

AlphaFold

Q9CWW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025444
AA Change: H364L

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025444
Gene: ENSMUSG00000024560
AA Change: H364L

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	T	12: 113,509,070 (GRCm39)	N481I	probably damaging	Het
Ahnak	T	A	19: 8,989,846 (GRCm39)	L3710Q	unknown	Het
Anapc15-ps	T	C	10: 95,508,965 (GRCm39)	D105G	probably benign	Het
Ankfn1	T	C	11: 89,414,033 (GRCm39)	N114S	probably benign	Het
Ankrd27	A	T	7: 35,301,891 (GRCm39)	T137S	possibly damaging	Het
Atp1b3	A	G	9: 96,222,293 (GRCm39)	S165P	probably benign	Het
Atxn7l3	T	C	11: 102,182,852 (GRCm39)	D256G	probably benign	Het
B430305J03Rik	C	A	3: 61,271,408 (GRCm39)	L112F	unknown	Het
Bub1	A	T	2: 127,646,766 (GRCm39)	I838K	probably damaging	Het
C3	T	A	17: 57,527,189 (GRCm39)	E753D	probably benign	Het
Cacnb4	T	C	2: 52,364,942 (GRCm39)	D107G	probably benign	Het
Cenpj	A	T	14: 56,802,387 (GRCm39)	H59Q	probably benign	Het
Dapk1	T	C	13: 60,895,937 (GRCm39)	I675T	probably benign	Het
Eln	A	G	5: 134,738,991 (GRCm39)	S663P	unknown	Het
Epha8	G	T	4: 136,659,065 (GRCm39)	P863Q	probably damaging	Het
Erich6	G	T	3: 58,536,766 (GRCm39)	T278N	possibly damaging	Het
Fam47e	G	C	5: 92,726,395 (GRCm39)	R111P	probably benign	Het
Fam83g	C	T	11: 61,575,328 (GRCm39)		probably benign	Het
Fanci	A	T	7: 79,085,117 (GRCm39)	I848L	probably benign	Het
Foxj3	T	A	4: 119,483,589 (GRCm39)	D620E	unknown	Het
Gm14443	T	A	2: 175,012,129 (GRCm39)	N106Y	possibly damaging	Het
Gm17654	T	C	14: 43,815,492 (GRCm39)	D105G		Het
Gps1	C	A	11: 120,677,434 (GRCm39)	A216D	probably damaging	Het
Hs3st3b1	T	C	11: 63,780,110 (GRCm39)	K339R	probably benign	Het
Ikzf1	A	G	11: 11,719,219 (GRCm39)	T396A	probably damaging	Het
Lratd2	A	T	15: 60,694,993 (GRCm39)	I251N	probably damaging	Het
Lrrc9	A	G	12: 72,497,586 (GRCm39)	I135V	probably benign	Het
Mylk	C	A	16: 34,699,677 (GRCm39)	Q347K	probably benign	Het
Myo1e	A	G	9: 70,303,156 (GRCm39)	Y1059C	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10d1b	A	G	9: 39,613,822 (GRCm39)	F81S	probably benign	Het
Or10j3	A	T	1: 173,031,672 (GRCm39)	I250F	probably benign	Het
Or2y1	T	A	11: 49,385,834 (GRCm39)	I158N	possibly damaging	Het
Or6c33	T	C	10: 129,853,866 (GRCm39)	V212A	possibly damaging	Het
Or8g23	T	A	9: 38,971,453 (GRCm39)	N170Y	probably benign	Het
Or8g30	G	T	9: 39,230,848 (GRCm39)	Q21K	probably benign	Het
Piezo2	G	A	18: 63,197,767 (GRCm39)	P1590S	possibly damaging	Het
Prl7a2	T	A	13: 27,849,869 (GRCm39)	K68*	probably null	Het
Prss33	A	G	17: 24,054,656 (GRCm39)	V14A	probably benign	Het
Rad17	T	C	13: 100,773,503 (GRCm39)	N162S	probably damaging	Het
Sbf2	A	T	7: 109,963,857 (GRCm39)	V1042E	probably damaging	Het
Scn1a	A	T	2: 66,153,766 (GRCm39)	M689K	probably benign	Het
Senp7	A	T	16: 55,990,075 (GRCm39)	I608F	probably damaging	Het
Sh2b1	AGCTCAGCCACGGGGAC	AGCTCAGCCACGGGGACACGCTCAGCCACGGGGAC	7: 126,066,750 (GRCm39)		probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	GGGACCAGCTCAGCCACG	GGGACCAGCTCAGCCACGTGGACCAGCTCAGCCACG	7: 126,066,744 (GRCm39)		probably benign	Het
Slc38a3	A	G	9: 107,532,510 (GRCm39)	V370A	probably damaging	Het
Sorbs2	A	G	8: 46,228,690 (GRCm39)	I307V	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Spindoc	G	A	19: 7,352,197 (GRCm39)	T50M	probably benign	Het
Sppl2b	T	A	10: 80,699,373 (GRCm39)	F269Y	probably benign	Het
Stab1	C	T	14: 30,863,345 (GRCm39)	V2114M		Het
Tcerg1l	A	G	7: 137,995,923 (GRCm39)	V195A	possibly damaging	Het
Tent4a	A	T	13: 69,651,787 (GRCm39)	W545R	probably damaging	Het
Tmem128	G	T	5: 38,422,236 (GRCm39)	R105L	possibly damaging	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Vmn1r194	T	A	13: 22,428,671 (GRCm39)	I96N	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn1r78	G	A	7: 11,886,410 (GRCm39)	S7N	probably benign	Het
Wapl	T	A	14: 34,414,063 (GRCm39)	N308K	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
R6908:Cxxc1	UTSW	18	74,353,630 (GRCm39)	missense	probably damaging	1.00
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
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'- TTCCTGGATCCTGCACTGAG -3'
(R):5'- AAGTCTGGCCATACCCTCAC -3'

Sequencing Primer
(F):5'- TGGATCCTGCACTGAGGAAGC -3'
(R):5'- GGCCATACCCTCACTTTCC -3'

Posted On

2022-09-12