Incidental Mutation 'R5258:Dkk4'
ID 401245
Institutional Source Beutler Lab
Gene Symbol Dkk4
Ensembl Gene ENSMUSG00000031535
Gene Name dickkopf WNT signaling pathway inhibitor 4
Synonyms
MMRRC Submission 042828-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5258 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 23114059-23117563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 23117031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 215 (L215I)
Ref Sequence ENSEMBL: ENSMUSP00000033936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033936] [ENSMUST00000033938]
AlphaFold Q8VEJ3
Predicted Effect probably damaging
Transcript: ENSMUST00000033936
AA Change: L215I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033936
Gene: ENSMUSG00000031535
AA Change: L215I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Dickkopf_N 40 91 2e-18 PFAM
Pfam:Prokineticin 135 213 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033938
SMART Domains Protein: ENSMUSP00000033938
Gene: ENSMUSG00000031536

DomainStartEndE-ValueType
POLXc 10 334 4.58e-159 SMART
HhH1 57 76 1.91e-1 SMART
HhH1 98 117 1.14e1 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
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 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. Activity of this protein is modulated by binding to the Wnt co-receptor and the co-factor kremen 2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional ready allele are phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,385,266 (GRCm39) D233V probably damaging Het
Abca13 A T 11: 9,199,684 (GRCm39) T128S possibly damaging Het
Abca16 T G 7: 120,035,992 (GRCm39) probably null Het
Abcc8 T C 7: 45,757,811 (GRCm39) I1313V probably benign Het
Abcc8 C T 7: 45,806,572 (GRCm39) V379I probably benign Het
Acp3 T C 9: 104,186,674 (GRCm39) I266V probably benign Het
Asf1b C T 8: 84,695,896 (GRCm39) T179I probably benign Het
B3gnt7 A G 1: 86,233,287 (GRCm39) K61E possibly damaging Het
Card11 G A 5: 140,862,180 (GRCm39) P1039L possibly damaging Het
Cd1d2 C G 3: 86,894,954 (GRCm39) R147G possibly damaging Het
Cfap68 T C 9: 50,675,633 (GRCm39) probably benign Het
Cfap69 T C 5: 5,654,271 (GRCm39) probably null Het
Ddx46 T C 13: 55,800,837 (GRCm39) F331L possibly damaging Het
Dnhd1 C T 7: 105,323,244 (GRCm39) T584I probably benign Het
Dock3 T C 9: 106,874,124 (GRCm39) Y449C probably damaging Het
Foxi2 C T 7: 135,012,256 (GRCm39) T48M probably benign Het
Gm12887 T C 4: 121,472,897 (GRCm39) K82E probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Igkv4-80 T A 6: 68,993,811 (GRCm39) T27S probably benign Het
Invs A G 4: 48,396,374 (GRCm39) D349G possibly damaging Het
Lbhd1 A G 19: 8,861,453 (GRCm39) probably benign Het
Lipo3 T A 19: 33,591,243 (GRCm39) probably benign Het
Llgl1 G C 11: 60,602,389 (GRCm39) probably null Het
Lyzl6 T A 11: 103,525,899 (GRCm39) I74F probably damaging Het
Map3k6 T C 4: 132,974,953 (GRCm39) V662A possibly damaging Het
Megf8 T A 7: 25,047,751 (GRCm39) F1645I possibly damaging Het
Mfsd4b2 T A 10: 39,798,017 (GRCm39) M113L probably benign Het
Mib1 G A 18: 10,795,856 (GRCm39) probably null Het
Mrps6 T A 16: 91,896,543 (GRCm39) V36E probably damaging Het
Nhsl1 C A 10: 18,400,070 (GRCm39) S432* probably null Het
Nle1 T C 11: 82,795,772 (GRCm39) D225G probably damaging Het
Nlrp4c T A 7: 6,069,622 (GRCm39) S508T probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5d37 A T 2: 87,923,762 (GRCm39) Y173N probably benign Het
P2rx7 A G 5: 122,819,066 (GRCm39) E496G probably damaging Het
Prdm16 A T 4: 154,451,671 (GRCm39) D179E possibly damaging Het
Psca A T 15: 74,588,240 (GRCm39) I56F probably damaging Het
Ptprg A G 14: 12,142,431 (GRCm38) T361A probably benign Het
Ptrhd1 A G 12: 4,286,481 (GRCm39) Y124C probably damaging Het
Sesn1 C T 10: 41,770,984 (GRCm39) P172S probably benign Het
Sspo T C 6: 48,453,428 (GRCm39) V2872A probably damaging Het
Stard9 T A 2: 120,529,824 (GRCm39) L2027H probably damaging Het
Tas2r114 T A 6: 131,666,504 (GRCm39) I175F probably benign Het
Tex2 T A 11: 106,458,585 (GRCm39) probably benign Het
Tfdp1 C T 8: 13,419,529 (GRCm39) T86M possibly damaging Het
Trav14-1 C T 14: 53,791,730 (GRCm39) H27Y probably benign Het
Trim24 A T 6: 37,896,335 (GRCm39) Q264L probably benign Het
Vmn2r90 A G 17: 17,933,114 (GRCm39) I225V probably benign Het
Vps13b A G 15: 35,794,567 (GRCm39) T2326A possibly damaging Het
Zfp354b A C 11: 50,813,917 (GRCm39) I336S probably benign Het
Zfp407 C T 18: 84,334,051 (GRCm39) V1761I probably damaging Het
Zfp958 A T 8: 4,678,456 (GRCm39) E160D probably benign Het
Other mutations in Dkk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01086:Dkk4 APN 8 23,116,857 (GRCm39) missense probably damaging 1.00
IGL01145:Dkk4 APN 8 23,115,402 (GRCm39) missense probably damaging 0.98
R0504:Dkk4 UTSW 8 23,115,359 (GRCm39) missense probably damaging 1.00
R4689:Dkk4 UTSW 8 23,115,336 (GRCm39) missense probably benign 0.05
R5014:Dkk4 UTSW 8 23,115,315 (GRCm39) missense probably benign 0.08
R5257:Dkk4 UTSW 8 23,117,031 (GRCm39) missense probably damaging 1.00
R5788:Dkk4 UTSW 8 23,115,347 (GRCm39) missense probably damaging 1.00
R7405:Dkk4 UTSW 8 23,115,859 (GRCm39) missense probably benign 0.05
R7964:Dkk4 UTSW 8 23,115,368 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGAACCTCTGACTGTGGCC -3'
(R):5'- CTCAGTTGCTAGGAGATTGGGC -3'

Sequencing Primer
(F):5'- ACTGTGGCCCTGGACTTTGC -3'
(R):5'- CCAGGGATTGATTCTGTG -3'
Posted On 2016-07-06