Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Ccn4'

41821

Institutional Source

Beutler Lab

Gene Symbol

Ccn4

Ensembl Gene

ENSMUSG00000005124

Gene Name

cellular communication network factor 4

Synonyms

Wisp1, Elm1, CCN4

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0470 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

66763337-66795050 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66789227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 238 (I238V)

Ref Sequence

ENSEMBL: ENSMUSP00000005255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005255] [ENSMUST00000118823] [ENSMUST00000147079]

AlphaFold

O54775

Predicted Effect

probably benign
Transcript: ENSMUST00000005255
AA Change: I238V

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000005255
Gene: ENSMUSG00000005124
AA Change: I238V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IB	49	117	6.39e-13	SMART
VWC	123	185	5.63e-13	SMART
TSP1	217	260	4.34e-5	SMART
CT	278	347	1.42e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118823

SMART Domains

Protein: ENSMUSP00000113144
Gene: ENSMUSG00000005124

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
IB	49	117	3.19e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133863

Predicted Effect

probably benign
Transcript: ENSMUST00000147079

SMART Domains

Protein: ENSMUSP00000117402
Gene: ENSMUSG00000005124

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230535

Meta Mutation Damage Score

0.1256

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. It is expressed at a high level in fibroblast cells, and overexpressed in colon tumors. The encoded protein binds to decorin and biglycan, two members of a family of small leucine-rich proteoglycans present in the extracellular matrix of connective tissue, and possibly prevents the inhibitory activity of decorin and biglycan in tumor cell proliferation. It also attenuates p53-mediated apoptosis in response to DNA damage through activation of the Akt kinase. It is 83% identical to the mouse protein at the amino acid level. Multiple alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit impaired motor coordination during inverted screen testing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	G	19: 8,986,331 (GRCm39)	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,248,500 (GRCm39)	L235H	probably damaging	Het
Ank	G	A	15: 27,571,721 (GRCm39)	C331Y	probably damaging	Het
Ankrd12	T	C	17: 66,293,129 (GRCm39)	E768G	probably benign	Het
Atm	A	T	9: 53,372,266 (GRCm39)	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,093,866 (GRCm39)	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Cdadc1	A	T	14: 59,811,290 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,749,517 (GRCm39)	V155E	probably damaging	Het
Chp1	C	T	2: 119,391,244 (GRCm39)	R34C	probably damaging	Het
Cilp2	A	T	8: 70,338,055 (GRCm39)	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,023,074 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,514 (GRCm39)		probably benign	Het
Gja3	T	C	14: 57,273,884 (GRCm39)	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,722,280 (GRCm39)		noncoding transcript	Het
Herc6	C	T	6: 57,596,437 (GRCm39)	T459M	probably damaging	Het
Hexb	A	G	13: 97,314,507 (GRCm39)	L412P	probably damaging	Het
Il17ra	T	G	6: 120,458,767 (GRCm39)	D639E	probably benign	Het
Kcnh5	G	A	12: 75,161,188 (GRCm39)	T240I	probably benign	Het
Lef1	T	C	3: 130,906,475 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,370,923 (GRCm39)	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,642,062 (GRCm39)	H342L	probably damaging	Het
Minar2	C	T	18: 59,208,711 (GRCm39)	R120C	probably damaging	Het
Nipal3	A	G	4: 135,174,683 (GRCm39)	V356A	probably damaging	Het
Or2a54	C	G	6: 43,093,558 (GRCm39)	A294G	probably null	Het
Or51i1	A	T	7: 103,670,877 (GRCm39)	I216N	probably damaging	Het
Plekha6	G	A	1: 133,200,045 (GRCm39)	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,036,504 (GRCm39)	I82T	probably damaging	Het
Prrc1	C	T	18: 57,496,469 (GRCm39)	T140M	probably damaging	Het
Psg22	A	C	7: 18,453,589 (GRCm39)	S95R	probably damaging	Het
Ptk6	T	C	2: 180,837,732 (GRCm39)	T396A	probably benign	Het
Ptov1	A	G	7: 44,514,235 (GRCm39)	S9P	probably damaging	Het
Scin	A	C	12: 40,123,291 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,717,593 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,229 (GRCm39)		probably benign	Het
Sf3a2	G	A	10: 80,640,388 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,683,789 (GRCm39)	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,694,197 (GRCm39)	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,152,086 (GRCm39)	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,785,956 (GRCm39)		probably null	Het
Tex24	C	T	8: 27,834,936 (GRCm39)	R155*	probably null	Het
Tgfb1	T	A	7: 25,387,355 (GRCm39)		probably benign	Het
Tmc5	A	G	7: 118,239,154 (GRCm39)	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,297,512 (GRCm39)	V131I	possibly damaging	Het
Trim66	A	G	7: 109,056,749 (GRCm39)		probably benign	Het
Tspoap1	T	C	11: 87,666,988 (GRCm39)	S1027P	probably damaging	Het
Usp34	C	T	11: 23,386,001 (GRCm39)	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,627,818 (GRCm39)	Y3S	probably benign	Het
Vmn1r231	G	A	17: 21,110,265 (GRCm39)	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,679,066 (GRCm39)	L249*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,773,148 (GRCm39)	Q491R	probably benign	Het
Vwf	G	A	6: 125,605,391 (GRCm39)	V925M	possibly damaging	Het
Zbtb6	A	C	2: 37,319,505 (GRCm39)	L141W	probably damaging	Het
Zranb1	G	T	7: 132,584,500 (GRCm39)	L615F	probably damaging	Het

Other mutations in Ccn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03051:Ccn4	APN	15	66,778,399 (GRCm39)	nonsense	probably null
IGL03057:Ccn4	APN	15	66,763,489 (GRCm39)	splice site	probably benign
R0029:Ccn4	UTSW	15	66,784,713 (GRCm39)	missense	probably damaging	1.00
R0125:Ccn4	UTSW	15	66,789,194 (GRCm39)	missense	possibly damaging	0.82
R0164:Ccn4	UTSW	15	66,791,059 (GRCm39)	missense	probably damaging	1.00
R0164:Ccn4	UTSW	15	66,791,059 (GRCm39)	missense	probably damaging	1.00
R0847:Ccn4	UTSW	15	66,791,124 (GRCm39)	missense	probably damaging	1.00
R1463:Ccn4	UTSW	15	66,791,120 (GRCm39)	missense	possibly damaging	0.52
R1623:Ccn4	UTSW	15	66,763,448 (GRCm39)	missense	possibly damaging	0.46
R1785:Ccn4	UTSW	15	66,778,338 (GRCm39)	missense	probably damaging	1.00
R1786:Ccn4	UTSW	15	66,778,338 (GRCm39)	missense	probably damaging	1.00
R2027:Ccn4	UTSW	15	66,789,258 (GRCm39)	missense	possibly damaging	0.50
R2104:Ccn4	UTSW	15	66,791,176 (GRCm39)	missense	probably benign	0.11
R2440:Ccn4	UTSW	15	66,784,706 (GRCm39)	missense	possibly damaging	0.71
R3791:Ccn4	UTSW	15	66,791,137 (GRCm39)	missense	probably damaging	1.00
R4748:Ccn4	UTSW	15	66,778,489 (GRCm39)	nonsense	probably null
R5317:Ccn4	UTSW	15	66,789,131 (GRCm39)	missense	probably benign
R6960:Ccn4	UTSW	15	66,791,047 (GRCm39)	missense	probably benign	0.00
R7144:Ccn4	UTSW	15	66,784,879 (GRCm39)	missense	probably damaging	0.99
R8237:Ccn4	UTSW	15	66,791,083 (GRCm39)	missense	probably benign	0.23
R9140:Ccn4	UTSW	15	66,791,157 (GRCm39)	missense	probably damaging	0.96
R9364:Ccn4	UTSW	15	66,784,900 (GRCm39)	missense	probably benign	0.01
R9554:Ccn4	UTSW	15	66,784,900 (GRCm39)	missense	probably benign	0.01
R9598:Ccn4	UTSW	15	66,784,764 (GRCm39)	missense	possibly damaging	0.55
R9644:Ccn4	UTSW	15	66,784,785 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCGTGGAGGCTACAGACTCATAGG -3'
(R):5'- TAACAGCAGAGCGGCATCTGAC -3'

Sequencing Primer
(F):5'- ACAGACTCATAGGTTCTGTGGTATTC -3'
(R):5'- ATTCAGTGGAATCCATCCTGGAC -3'

Posted On

2013-05-23