Mutagenetix > Incidental Mutation

Incidental Mutation 'R7860:Cxxc4'

607408

Institutional Source

Beutler Lab

Gene Symbol

Cxxc4

Ensembl Gene

ENSMUSG00000044365

Gene Name

CXXC finger 4

Synonyms

9330210J02Rik, Idax, C030003J12Rik

MMRRC Submission

045913-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7860 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

133942245-133967922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133963814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 353 (R353G)

Ref Sequence

ENSEMBL: ENSMUSP00000138000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166288] [ENSMUST00000181904]

AlphaFold

Q6NXI8

Predicted Effect

probably benign
Transcript: ENSMUST00000166288
AA Change: R185G

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

SMART Domains

Protein: ENSMUSP00000128574
Gene: ENSMUSG00000044365
AA Change: R185G

Domain	Start	End	E-Value	Type
low complexity region	87	102	N/A	INTRINSIC
low complexity region	116	129	N/A	INTRINSIC
Pfam:zf-CXXC	131	172	5.1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181904
AA Change: R353G

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138000
Gene: ENSMUSG00000044365
AA Change: R353G

Domain	Start	End	E-Value	Type
low complexity region	94	101	N/A	INTRINSIC
low complexity region	105	165	N/A	INTRINSIC
low complexity region	255	270	N/A	INTRINSIC
low complexity region	284	297	N/A	INTRINSIC
Pfam:zf-CXXC	299	340	5.8e-10	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a CXXC-type zinc finger domain-containing protein that functions as an antagonist of the canonical wingless/integrated signaling pathway. The encoded protein negatively regulates wingless/integrated signaling through interaction with the post synaptic density protein/ Drosophila disc large tumor suppressor/ zonula occludens-1 protein domain of Dishevelled, a scaffolding protein required for the stabilization of the transcriptional co-activator beta-catenin. In addition, the CXXC domain of this protein has been shown to bind unmethylated CpG dinucleotides, localize to promoters and CpG islands, and interact with the catalytic domain of methylcytosine dioxygenase ten-eleven-translocation 2, an iron and alpha-ketoglutarate-dependent dioxygenase that modifies the methylation status of DNA. In humans, a mutation in this gene has been associated with development of malignant renal cell carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,905,707 (GRCm39)	T493A	probably damaging	Het
Aars1	A	G	8: 111,776,493 (GRCm39)	K650E	probably benign	Het
Abcb1b	C	T	5: 8,882,258 (GRCm39)	S793F	probably benign	Het
Adamts18	T	A	8: 114,501,908 (GRCm39)	I318F	probably damaging	Het
Adcy8	A	G	15: 64,571,322 (GRCm39)	I1137T	probably damaging	Het
Ambra1	T	A	2: 91,603,838 (GRCm39)	F607L	probably benign	Het
Ankrd46	A	T	15: 36,479,566 (GRCm39)	V175D	possibly damaging	Het
Arhgap28	C	A	17: 68,208,277 (GRCm39)	E114*	probably null	Het
Arrdc1	C	T	2: 24,816,158 (GRCm39)	G282S	probably damaging	Het
Atp1a3	A	T	7: 24,681,216 (GRCm39)	L790Q	probably damaging	Het
Bend5	T	A	4: 111,272,406 (GRCm39)	V12D	probably damaging	Het
Bod1l	C	T	5: 41,976,608 (GRCm39)	E1569K	probably damaging	Het
Cdc123	T	A	2: 5,808,775 (GRCm39)	I234L	probably benign	Het
Cep126	T	G	9: 8,120,749 (GRCm39)	E91D	probably damaging	Het
Cep89	T	A	7: 35,113,570 (GRCm39)	D199E	possibly damaging	Het
Ces1d	T	C	8: 93,897,765 (GRCm39)	T442A	probably benign	Het
Chsy3	C	T	18: 59,542,299 (GRCm39)	A479V	probably benign	Het
Clcn4	C	A	7: 7,296,060 (GRCm39)	G261C	probably damaging	Het
Clhc1	A	T	11: 29,507,651 (GRCm39)		probably null	Het
Cnot3	T	A	7: 3,658,565 (GRCm39)		probably null	Het
Col9a1	C	A	1: 24,276,261 (GRCm39)	P723H	probably damaging	Het
Crybg3	A	T	16: 59,375,605 (GRCm39)	M169K	probably benign	Het
Dennd3	A	T	15: 73,412,657 (GRCm39)	I440F	probably damaging	Het
Dnai3	A	G	3: 145,772,675 (GRCm39)	L457P	probably damaging	Het
Elmo3	G	T	8: 106,035,649 (GRCm39)	S553I	probably damaging	Het
Elovl2	A	G	13: 41,340,943 (GRCm39)	Y198H	probably benign	Het
Epm2aip1	A	G	9: 111,101,105 (GRCm39)	Y26C	probably damaging	Het
Ext1	A	C	15: 52,953,335 (GRCm39)	C510G	possibly damaging	Het
Extl3	A	T	14: 65,314,938 (GRCm39)	D81E	probably benign	Het
Fbxl5	T	A	5: 43,916,018 (GRCm39)	T465S	probably benign	Het
Fbxo31	G	A	8: 122,291,384 (GRCm39)		probably null	Het
Gabrr2	A	T	4: 33,081,470 (GRCm39)	K169*	probably null	Het
Haus4	A	G	14: 54,779,602 (GRCm39)	Y341H	probably damaging	Het
Itgae	A	T	11: 73,011,099 (GRCm39)		probably null	Het
Jmjd7	C	T	2: 119,860,996 (GRCm39)	H149Y	possibly damaging	Het
Kcnh2	C	T	5: 24,529,561 (GRCm39)	C725Y	probably damaging	Het
Mroh1	C	T	15: 76,331,532 (GRCm39)	P1252L	probably benign	Het
Ms4a14	A	G	19: 11,280,308 (GRCm39)	F750S	probably benign	Het
Naf1	T	A	8: 67,313,165 (GRCm39)	D49E	unknown	Het
Notch3	T	C	17: 32,341,747 (GRCm39)	T2002A	possibly damaging	Het
Or10q12	T	A	19: 13,745,716 (GRCm39)	D3E	probably benign	Het
Or14c44	A	G	7: 86,057,119 (GRCm39)		probably benign	Het
Or1e33	A	T	11: 73,738,333 (GRCm39)	I206N	probably benign	Het
Or2d3c	A	T	7: 106,525,777 (GRCm39)	D296E	probably benign	Het
Or2l13b	A	T	16: 19,349,167 (GRCm39)	C168S	probably damaging	Het
Or7e175	A	T	9: 20,048,871 (GRCm39)	N153I	probably benign	Het
Or9s23	G	A	1: 92,501,810 (GRCm39)	D306N	probably benign	Het
Pck1	A	G	2: 172,997,743 (GRCm39)	T271A	possibly damaging	Het
Penk	A	G	4: 4,133,976 (GRCm39)	W224R	possibly damaging	Het
Per2	C	A	1: 91,372,481 (GRCm39)	V198F	probably damaging	Het
Phf11d	A	G	14: 59,599,280 (GRCm39)	M23T	probably damaging	Het
Pla2g4d	A	G	2: 120,097,211 (GRCm39)	V796A	probably benign	Het
Pramel51	A	T	12: 88,143,122 (GRCm39)	N360K	possibly damaging	Het
Prdx6	A	T	1: 161,069,428 (GRCm39)		probably null	Het
Prep	A	T	10: 44,967,108 (GRCm39)	N47I	probably damaging	Het
Prodh2	A	T	7: 30,212,064 (GRCm39)		probably null	Het
Prss38	G	T	11: 59,265,996 (GRCm39)	H96N	probably damaging	Het
Rab11a	C	A	9: 64,635,613 (GRCm39)	E47*	probably null	Het
Rad18	C	T	6: 112,626,798 (GRCm39)	G369D	probably benign	Het
Rragc	T	C	4: 123,823,717 (GRCm39)	V330A	probably damaging	Het
Serpina9	A	T	12: 103,967,680 (GRCm39)	H238Q	probably benign	Het
Serpinb3b	T	A	1: 107,085,467 (GRCm39)	K91N	probably damaging	Het
Slc16a12	T	G	19: 34,652,730 (GRCm39)	S139R	probably benign	Het
Slc22a27	T	A	19: 7,887,472 (GRCm39)		probably null	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Slc38a9	A	T	13: 112,868,148 (GRCm39)	I545F	probably benign	Het
Slc39a8	A	T	3: 135,590,157 (GRCm39)	H349L	probably damaging	Het
Slk	C	T	19: 47,630,510 (GRCm39)	T1227I	possibly damaging	Het
Spdye4b	A	G	5: 143,180,609 (GRCm39)	E25G	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
St3gal1	A	G	15: 66,983,114 (GRCm39)	V214A	probably benign	Het
St7l	T	A	3: 104,833,893 (GRCm39)	M550K	probably benign	Het
Tbk1	A	C	10: 121,388,151 (GRCm39)	F638C	possibly damaging	Het
Tex101	A	T	7: 24,369,190 (GRCm39)	C114S	probably damaging	Het
Ttll13	A	G	7: 79,905,135 (GRCm39)	M384V	probably benign	Het
Ugt2b37	A	T	5: 87,402,189 (GRCm39)	D147E	probably damaging	Het
Vmn1r10	A	T	6: 57,090,686 (GRCm39)	T93S	probably benign	Het
Wasl	G	A	6: 24,619,396 (GRCm39)	P375S	unknown	Het
Zfp236	C	A	18: 82,692,481 (GRCm39)	E165*	probably null	Het
Zfp839	A	T	12: 110,822,060 (GRCm39)	R291S	probably damaging	Het

Other mutations in Cxxc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Cxxc4	APN	3	133,946,420 (GRCm39)	missense	probably null	0.99
R1839:Cxxc4	UTSW	3	133,946,414 (GRCm39)	missense	probably damaging	1.00
R6265:Cxxc4	UTSW	3	133,963,824 (GRCm39)	missense	probably benign	0.02
R6744:Cxxc4	UTSW	3	133,945,891 (GRCm39)	small insertion	probably benign
R6947:Cxxc4	UTSW	3	133,946,277 (GRCm39)	missense	possibly damaging	0.90
R7764:Cxxc4	UTSW	3	133,945,856 (GRCm39)	missense	unknown
R7842:Cxxc4	UTSW	3	133,946,093 (GRCm39)	missense	possibly damaging	0.93
R8845:Cxxc4	UTSW	3	133,945,912 (GRCm39)	small insertion	probably benign
R9003:Cxxc4	UTSW	3	133,945,431 (GRCm39)	missense	unknown
R9353:Cxxc4	UTSW	3	133,945,913 (GRCm39)	missense	unknown
Z1177:Cxxc4	UTSW	3	133,945,811 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATTGCTACACATATCCCAGGATG -3'
(R):5'- TGGCCAATTCCCCAAACTTC -3'

Sequencing Primer
(F):5'- GCTACACATATCCCAGGATGTATTTC -3'
(R):5'- CCAAACTTCCCTGTTAATTTTATGTG -3'

Posted On

2019-12-20