Mutagenetix > Incidental Mutation

Incidental Mutation 'R0385:Dkk3'

65498

Institutional Source

Beutler Lab

Gene Symbol

Dkk3

Ensembl Gene

ENSMUSG00000030772

Gene Name

dickkopf WNT signaling pathway inhibitor 3

Synonyms

MMRRC Submission

038591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0385 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

111715224-111758264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 111757430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 58 (M58R)

Ref Sequence

ENSEMBL: ENSMUSP00000033036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033036]

AlphaFold

Q9QUN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033036
AA Change: M58R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000033036
Gene: ENSMUSG00000030772
AA Change: M58R

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
coiled coil region	42	84	N/A	INTRINSIC
Pfam:Dickkopf_N	146	196	3e-19	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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 is a member of the dickkopf family. The secreted protein contains two cysteine rich regions and is involved in embryonic development through its interactions with the Wnt signaling pathway. The expression of this gene is decreased in a variety of cancer cell lines and it may function as a tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and euthyroid but exhibit hyperactivity, a slight but significant decrease in the frequency of natural killer cells, and significantly increased IgM, hemoglobin, and hematocrit levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,122,574 (GRCm39)	N331S	probably benign	Het
Adk	A	G	14: 21,368,142 (GRCm39)	N189S	probably benign	Het
Apc	T	A	18: 34,448,997 (GRCm39)	N1930K	probably damaging	Het
Arhgap28	T	C	17: 68,171,601 (GRCm39)	D391G	probably damaging	Het
Atn1	G	T	6: 124,720,334 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,987,216 (GRCm39)	E471G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cap2	T	C	13: 46,714,023 (GRCm39)	L34P	probably damaging	Het
Cdc42ep2	T	A	19: 5,968,553 (GRCm39)	M51L	probably benign	Het
Cntn5	C	T	9: 9,972,875 (GRCm39)	A254T	probably damaging	Het
Dicer1	A	T	12: 104,670,433 (GRCm39)	L1044H	probably damaging	Het
Dpy19l3	G	A	7: 35,452,130 (GRCm39)	R5W	probably damaging	Het
Dsg1c	C	T	18: 20,416,711 (GRCm39)	P871S	probably damaging	Het
Dusp1	A	T	17: 26,726,670 (GRCm39)	S131T	probably benign	Het
Enpp2	C	T	15: 54,745,555 (GRCm39)	G314R	probably damaging	Het
Entr1	T	C	2: 26,277,671 (GRCm39)	E41G	possibly damaging	Het
Fam222b	C	A	11: 78,045,756 (GRCm39)	P439Q	probably benign	Het
Fastkd2	A	T	1: 63,776,970 (GRCm39)	I369F	probably benign	Het
Fdps	G	A	3: 89,002,201 (GRCm39)	S205F	probably damaging	Het
Fmo1	A	T	1: 162,663,773 (GRCm39)	V252E	possibly damaging	Het
Frmd5	A	G	2: 121,386,055 (GRCm39)	Y230H	probably damaging	Het
Gal	C	T	19: 3,461,171 (GRCm39)	V88I	probably benign	Het
Gnptab	T	C	10: 88,272,387 (GRCm39)	I1009T	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klhdc7a	A	T	4: 139,694,016 (GRCm39)	D310E	probably benign	Het
Klk4	T	C	7: 43,533,432 (GRCm39)	M97T	probably benign	Het
Krt82	C	T	15: 101,454,028 (GRCm39)	V227M	probably damaging	Het
Lpp	T	C	16: 24,580,587 (GRCm39)	V226A	probably damaging	Het
Mbd1	AGCTGACTCGGTAC	A	18: 74,406,312 (GRCm39)		probably null	Het
Mcm10	T	C	2: 5,008,965 (GRCm39)	K335E	possibly damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myb	T	C	10: 21,030,611 (GRCm39)	D62G	possibly damaging	Het
Nasp	A	T	4: 116,467,892 (GRCm39)	N364K	probably benign	Het
Npsr1	A	G	9: 24,224,573 (GRCm39)	N317D	probably damaging	Het
Nup210	A	G	6: 91,005,777 (GRCm39)	V619A	possibly damaging	Het
Oser1	C	T	2: 163,253,316 (GRCm39)		probably null	Het
Pcdhb4	T	C	18: 37,442,268 (GRCm39)	F526S	probably damaging	Het
Plekhh3	T	C	11: 101,055,967 (GRCm39)	N444S	probably damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Pou2f2	G	A	7: 24,815,501 (GRCm39)	Q89*	probably null	Het
Ptprb	A	G	10: 116,186,083 (GRCm39)	I1713V	probably benign	Het
Ptprd	A	G	4: 76,046,902 (GRCm39)	Y442H	probably damaging	Het
Rad21	A	T	15: 51,837,259 (GRCm39)	I152N	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,823 (GRCm39)	S1568P	probably damaging	Het
Rhag	T	A	17: 41,145,618 (GRCm39)	V357E	probably damaging	Het
Rnf121	A	T	7: 101,678,324 (GRCm39)	D174E	possibly damaging	Het
Sf3b4	T	C	3: 96,080,298 (GRCm39)	Y16H	probably damaging	Het
Slc1a3	C	T	15: 8,668,619 (GRCm39)	V449I	probably damaging	Het
Slc20a2	A	G	8: 23,058,409 (GRCm39)	I648M	probably benign	Het
Slc25a25	T	A	2: 32,307,834 (GRCm39)	I254F	probably damaging	Het
Slit3	A	G	11: 35,591,109 (GRCm39)	H1307R	probably damaging	Het
Sorl1	C	A	9: 41,943,205 (GRCm39)	M890I	probably damaging	Het
Supt16	A	C	14: 52,414,175 (GRCm39)	M468R	probably benign	Het
Taf4b	T	C	18: 14,916,817 (GRCm39)	S56P	probably benign	Het
Tapt1	T	C	5: 44,375,443 (GRCm39)		probably null	Het
Tmco3	T	G	8: 13,346,027 (GRCm39)	C288W	probably damaging	Het
Tpcn2	A	G	7: 144,830,911 (GRCm39)	Y145H	probably damaging	Het
Ttn	C	T	2: 76,712,061 (GRCm39)		probably benign	Het
Usb1	G	T	8: 96,071,946 (GRCm39)	W215C	probably damaging	Het
Usp2	C	G	9: 44,004,047 (GRCm39)	T305R	probably damaging	Het
Vmn1r13	G	A	6: 57,187,690 (GRCm39)	S283N	probably benign	Het
Vps54	A	G	11: 21,256,381 (GRCm39)	K467E	possibly damaging	Het
Wnk2	G	T	13: 49,221,604 (GRCm39)	S1121Y	probably damaging	Het
Zbed6	A	T	1: 133,584,522 (GRCm39)	D938E	probably damaging	Het

Other mutations in Dkk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02086:Dkk3	APN	7	111,748,236 (GRCm39)	missense	probably benign	0.05
IGL02638:Dkk3	APN	7	111,748,234 (GRCm39)	missense	probably benign	0.35
IGL02934:Dkk3	APN	7	111,749,954 (GRCm39)	missense	probably damaging	0.99
PIT4498001:Dkk3	UTSW	7	111,718,679 (GRCm39)	missense	probably benign	0.30
R0550:Dkk3	UTSW	7	111,757,452 (GRCm39)	missense	probably damaging	1.00
R4657:Dkk3	UTSW	7	111,748,253 (GRCm39)	critical splice acceptor site	probably null
R4952:Dkk3	UTSW	7	111,717,558 (GRCm39)	missense	probably benign	0.01
R5987:Dkk3	UTSW	7	111,749,865 (GRCm39)	missense	probably benign	0.00
R6221:Dkk3	UTSW	7	111,720,853 (GRCm39)	missense	probably damaging	1.00
R7680:Dkk3	UTSW	7	111,718,570 (GRCm39)	missense	probably damaging	0.99
R8282:Dkk3	UTSW	7	111,717,489 (GRCm39)	missense	probably damaging	1.00
R8430:Dkk3	UTSW	7	111,720,853 (GRCm39)	missense	probably damaging	1.00
R8838:Dkk3	UTSW	7	111,717,542 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCAGACTTTCGGCAGGCAGAC -3'
(R):5'- ACCACTGTTTCCAGCAGGGATTG -3'

Sequencing Primer
(F):5'- CCGGCTGAGAGTAAGAATCACC -3'
(R):5'- GCTGGGTATCGCTCCATCTG -3'

Posted On

2013-08-08