Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Dkk3'

638255

Institutional Source

Beutler Lab

Gene Symbol

Dkk3

Ensembl Gene

ENSMUSG00000030772

Gene Name

dickkopf WNT signaling pathway inhibitor 3

Synonyms

MMRRC Submission

067705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111715224-111758264 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111717489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 327 (S327C)

Ref Sequence

ENSEMBL: ENSMUSP00000033036 (fasta)

Gene Model

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

AlphaFold

Q9QUN9

Predicted Effect

probably damaging
Transcript: ENSMUST00000033036
AA Change: S327C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033036
Gene: ENSMUSG00000030772
AA Change: S327C

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,337,906 (GRCm39)	D173E	probably benign	Het
Ahctf1	T	C	1: 179,605,371 (GRCm39)	D721G	possibly damaging	Het
Allc	T	C	12: 28,607,356 (GRCm39)	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,459,575 (GRCm39)		probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Brf2	G	T	8: 27,614,621 (GRCm39)	R30S		Het
Bsn	A	G	9: 107,984,890 (GRCm39)	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces1d	A	T	8: 93,912,740 (GRCm39)	S233T	possibly damaging	Het
Chst15	T	A	7: 131,871,879 (GRCm39)	H134L	probably benign	Het
Col14a1	A	G	15: 55,284,276 (GRCm39)	T846A	unknown	Het
Cwh43	A	T	5: 73,591,572 (GRCm39)	D555V	probably damaging	Het
Cyld	C	A	8: 89,432,043 (GRCm39)	P14T	probably benign	Het
Dctn1	G	A	6: 83,176,738 (GRCm39)	R1264H	possibly damaging	Het
Dnmbp	T	G	19: 43,879,005 (GRCm39)	H22P	unknown	Het
Duxf4	T	G	10: 58,072,148 (GRCm39)	Q22P	possibly damaging	Het
Fabp4	T	A	3: 10,270,342 (GRCm39)	T103S	probably benign	Het
Fam43a	T	C	16: 30,420,106 (GRCm39)	L230P	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fank1	T	A	7: 133,478,493 (GRCm39)	Y186N	probably damaging	Het
Fbxo8	G	A	8: 57,044,555 (GRCm39)	R286K	possibly damaging	Het
Fmnl2	G	A	2: 52,997,678 (GRCm39)		probably null	Het
Gli2	T	A	1: 118,765,701 (GRCm39)	S817C	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gstt2	C	G	10: 75,668,291 (GRCm39)	A155P	probably benign	Het
Ints9	T	A	14: 65,244,757 (GRCm39)	M213K	probably benign	Het
Jak1	G	A	4: 101,036,738 (GRCm39)	R301*	probably null	Het
Kdsr	T	C	1: 106,652,727 (GRCm39)	T302A	probably benign	Het
Khsrp	T	C	17: 57,331,123 (GRCm39)	E460G	probably damaging	Het
Larp1b	G	A	3: 40,991,245 (GRCm39)	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,324,560 (GRCm39)	K487R	probably damaging	Het
Niban2	A	G	2: 32,809,029 (GRCm39)	E205G	probably benign	Het
Nwd1	T	A	8: 73,431,580 (GRCm39)	S1193T	probably damaging	Het
Or10ag57	A	T	2: 87,218,852 (GRCm39)	T268S	probably benign	Het
Or5k3	T	A	16: 58,969,529 (GRCm39)	C105*	probably null	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,542,014 (GRCm39)	H636R	probably damaging	Het
Pdilt	A	G	7: 119,097,293 (GRCm39)	I266T	probably damaging	Het
Rell2	A	T	18: 38,090,665 (GRCm39)	Q114L	probably benign	Het
Rfc1	A	G	5: 65,426,289 (GRCm39)		probably null	Het
Rpia	T	C	6: 70,748,002 (GRCm39)	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,723,645 (GRCm39)	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,006,005 (GRCm39)		probably null	Het
Slc6a3	T	A	13: 73,705,200 (GRCm39)	D230E	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Synpo2l	A	G	14: 20,711,204 (GRCm39)	V472A	probably benign	Het
Taf6l	A	G	19: 8,750,714 (GRCm39)	I120T	possibly damaging	Het
Tent5c	A	G	3: 100,380,327 (GRCm39)	V143A	probably damaging	Het
Trappc11	T	C	8: 47,969,624 (GRCm39)	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,029,523 (GRCm39)	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,402,440 (GRCm39)	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,449,601 (GRCm39)	Y212*	probably null	Het
Vps54	T	A	11: 21,250,464 (GRCm39)		probably benign	Het
Zfp268	A	T	4: 145,349,547 (GRCm39)	D328V	possibly damaging	Het
Zfp648	T	A	1: 154,080,535 (GRCm39)	H231Q	probably benign	Het
Zscan4d	T	A	7: 10,896,369 (GRCm39)	T334S	possibly damaging	Het
Zswim9	T	C	7: 12,995,536 (GRCm39)	M207V	probably benign	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
R0385:Dkk3	UTSW	7	111,757,430 (GRCm39)	missense	probably damaging	0.99
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
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'- CCTTGTCAAGCCAGAGGAAAAG -3'
(R):5'- AGTTGACATGCTCCAAGCCTG -3'

Sequencing Primer
(F):5'- GCTACTGGGAAGGAGCTGC -3'
(R):5'- TGGAGAGAACCTTGACTAAATGTCC -3'

Posted On

2020-07-28