Incidental Mutation 'R6634:Dkkl1'
ID 525382
Institutional Source Beutler Lab
Gene Symbol Dkkl1
Ensembl Gene ENSMUSG00000030792
Gene Name dickkopf-like 1
Synonyms SGY1, Soggy, SGY-1, mSgy
MMRRC Submission 044756-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6634 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44856943-44861571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44859882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 56 (R56L)
Ref Sequence ENSEMBL: ENSMUSP00000147489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033057] [ENSMUST00000209466] [ENSMUST00000210741]
AlphaFold Q9QZL9
Predicted Effect possibly damaging
Transcript: ENSMUST00000033057
AA Change: R56L

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000033057
Gene: ENSMUSG00000030792
AA Change: R56L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 128 144 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000209466
AA Change: R56L

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210454
Predicted Effect probably benign
Transcript: ENSMUST00000210741
AA Change: R9L

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 97% (31/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. This gene encodes a secreted protein that has low sequence similarity to the dickkopf-3 protein. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sperm count associated with decreased sperm apoptosis. Mice homozygous for a different knock-out allele exhibit decreased fertilization frequency in vitro and delayed fertilizatio in vivo. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,094,127 (GRCm39) probably null Het
Alox12b C A 11: 69,059,647 (GRCm39) Y566* probably null Het
Chl1 T A 6: 103,667,220 (GRCm39) S403R probably damaging Het
Cpa5 T A 6: 30,626,363 (GRCm39) D241E probably damaging Het
Crebbp C T 16: 3,937,670 (GRCm39) A698T possibly damaging Het
Cyp2t4 C A 7: 26,855,213 (GRCm39) C121* probably null Het
Ebf3 A G 7: 136,802,889 (GRCm39) V387A probably damaging Het
Efcab3 T C 11: 104,784,609 (GRCm39) M2797T probably benign Het
Fer1l5 A G 1: 36,450,466 (GRCm39) T1212A probably damaging Het
Galnt16 T A 12: 80,565,944 (GRCm39) M1K probably null Het
Gm5800 A G 14: 51,953,595 (GRCm39) S7P possibly damaging Het
Gstp1 T A 19: 4,085,510 (GRCm39) H199L probably benign Het
Herc1 T C 9: 66,345,026 (GRCm39) S1940P probably benign Het
Igkv8-24 C T 6: 70,194,365 (GRCm39) W14* probably null Het
Iqcd C A 5: 120,738,556 (GRCm39) Q125K probably benign Het
Lpin2 T A 17: 71,553,413 (GRCm39) D812E probably damaging Het
Ltb4r2 T A 14: 55,999,962 (GRCm39) probably null Het
Morc2a T C 11: 3,622,376 (GRCm39) probably null Het
Myh1 A T 11: 67,099,890 (GRCm39) N600I possibly damaging Het
Nedd9 T A 13: 41,465,584 (GRCm39) K685N probably damaging Het
Or10aa3 A G 1: 173,878,535 (GRCm39) I199V probably benign Het
Otogl A C 10: 107,698,165 (GRCm39) V735G probably damaging Het
Pcnx1 T A 12: 81,964,656 (GRCm39) Y274* probably null Het
Pias1 A T 9: 62,826,706 (GRCm39) I252N probably damaging Het
Pitpnm3 T C 11: 71,942,755 (GRCm39) D844G probably null Het
Satb2 G T 1: 56,884,880 (GRCm39) S348* probably null Het
Sfxn1 T A 13: 54,247,048 (GRCm39) V180D probably damaging Het
Slc35g3 A T 11: 69,651,109 (GRCm39) V314D probably damaging Het
Tmem200c C A 17: 69,149,101 (GRCm39) D561E probably benign Het
Usp53 T A 3: 122,757,935 (GRCm39) Q69L probably benign Het
Other mutations in Dkkl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Dkkl1 APN 7 44,859,536 (GRCm39) critical splice donor site probably null
R0704:Dkkl1 UTSW 7 44,859,539 (GRCm39) missense probably damaging 1.00
R1778:Dkkl1 UTSW 7 44,860,819 (GRCm39) splice site probably null
R2512:Dkkl1 UTSW 7 44,857,157 (GRCm39) missense probably damaging 1.00
R4721:Dkkl1 UTSW 7 44,857,232 (GRCm39) missense probably damaging 1.00
R4933:Dkkl1 UTSW 7 44,860,949 (GRCm39) missense probably null
R6313:Dkkl1 UTSW 7 44,860,862 (GRCm39) missense probably benign 0.05
R7053:Dkkl1 UTSW 7 44,857,022 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGGGAAAGCAGCCTGATG -3'
(R):5'- TTAGAGGGTACGGGGCTTAC -3'

Sequencing Primer
(F):5'- AGCCTGATGGGTGGTGG -3'
(R):5'- ACCTAGCATGTGTGGGTGAGAG -3'
Posted On 2018-06-22