Incidental Mutation 'R7053:Dkkl1'
ID 547710
Institutional Source Beutler Lab
Gene Symbol Dkkl1
Ensembl Gene ENSMUSG00000030792
Gene Name dickkopf-like 1
Synonyms SGY1, Soggy, SGY-1, mSgy
MMRRC Submission 045150-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7053 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44856943-44861571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44857022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 182 (Q182K)
Ref Sequence ENSEMBL: ENSMUSP00000147678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033057] [ENSMUST00000121017] [ENSMUST00000209466] [ENSMUST00000210741]
AlphaFold Q9QZL9
Predicted Effect possibly damaging
Transcript: ENSMUST00000033057
AA Change: Q229K

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033057
Gene: ENSMUSG00000030792
AA Change: Q229K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 128 144 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121017
SMART Domains Protein: ENSMUSP00000113616
Gene: ENSMUSG00000038292

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
Pfam:EF-hand_9 108 175 8e-31 PFAM
Pfam:KASH_CCD 227 419 2.4e-90 PFAM
low complexity region 472 498 N/A INTRINSIC
low complexity region 607 633 N/A INTRINSIC
low complexity region 638 647 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209466
Predicted Effect probably damaging
Transcript: ENSMUST00000210741
AA Change: Q182K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 44,021,836 (GRCm39) C551* probably null Het
Aldh1l1 C A 6: 90,540,420 (GRCm39) T235K possibly damaging Het
Atp6v0a2 A G 5: 124,783,923 (GRCm39) E257G probably damaging Het
AW146154 A G 7: 41,131,988 (GRCm39) probably null Het
BC048507 T C 13: 68,011,772 (GRCm39) Y50H probably benign Het
Brip1 T C 11: 86,083,791 (GRCm39) N77D possibly damaging Het
Ccdc13 T C 9: 121,662,904 (GRCm39) E37G probably damaging Het
Ccn6 A G 10: 39,034,297 (GRCm39) Y102H probably damaging Het
Col27a1 T A 4: 63,251,404 (GRCm39) probably benign Het
Corin T A 5: 72,458,870 (GRCm39) I960L probably benign Het
Csnk2b A G 17: 35,335,422 (GRCm39) probably benign Het
Cyp2d26 T C 15: 82,676,801 (GRCm39) S182G probably benign Het
Dennd1a A G 2: 37,851,666 (GRCm39) L74P probably damaging Het
Dip2c A G 13: 9,660,740 (GRCm39) D838G probably damaging Het
Dnai2 T C 11: 114,629,521 (GRCm39) S183P probably damaging Het
Dnhd1 T C 7: 105,344,161 (GRCm39) L1835P probably damaging Het
Espl1 T C 15: 102,225,328 (GRCm39) probably null Het
Fam174a C T 1: 95,252,953 (GRCm39) A185V probably damaging Het
Fhip1b C T 7: 105,033,779 (GRCm39) G479D probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Grid2 G T 6: 64,677,402 (GRCm39) A74S unknown Het
Gsdma3 T A 11: 98,520,621 (GRCm39) M84K possibly damaging Het
Hlcs A T 16: 94,068,874 (GRCm39) S262R possibly damaging Het
Lrp1 A G 10: 127,376,963 (GRCm39) C4205R probably damaging Het
Mdc1 C T 17: 36,157,218 (GRCm39) A181V probably benign Het
Mdga2 T A 12: 66,736,158 (GRCm39) I357F probably benign Het
Mfn1 A G 3: 32,586,114 (GRCm39) I21V probably benign Het
Mgat4b C T 11: 50,124,367 (GRCm39) T409M probably damaging Het
Mgat4d G T 8: 84,098,261 (GRCm39) K341N probably damaging Het
Mpo A T 11: 87,694,336 (GRCm39) N109Y probably damaging Het
Mvp T C 7: 126,586,776 (GRCm39) Q785R possibly damaging Het
Nim1k A G 13: 120,189,145 (GRCm39) V88A probably damaging Het
Oasl2 A T 5: 115,049,291 (GRCm39) I464L possibly damaging Het
Or5m11b G T 2: 85,806,358 (GRCm39) C257F possibly damaging Het
Pkd1l2 A G 8: 117,740,681 (GRCm39) F2139L probably damaging Het
Pop1 T G 15: 34,530,421 (GRCm39) S940A probably benign Het
Ppp1r9a T A 6: 4,905,670 (GRCm39) M75K probably damaging Het
Prdm15 G A 16: 97,595,742 (GRCm39) Q1029* probably null Het
Rffl T C 11: 82,703,497 (GRCm39) K142R probably null Het
Rhou A G 8: 124,380,934 (GRCm39) probably benign Het
Rp1l1 A T 14: 64,268,958 (GRCm39) T1515S possibly damaging Het
Serpina1b T A 12: 103,698,688 (GRCm39) S54C possibly damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Taok3 T A 5: 117,390,627 (GRCm39) D529E probably benign Het
Tmem18 T A 12: 30,634,506 (GRCm39) M1K probably null Het
Tmem269 T A 4: 119,066,464 (GRCm39) H198L probably damaging Het
Tnrc18 A G 5: 142,772,984 (GRCm39) V432A unknown Het
Ttc6 A T 12: 57,707,318 (GRCm39) T742S probably benign Het
Uhrf2 T A 19: 30,069,519 (GRCm39) C749S probably damaging Het
Unc13c G A 9: 73,839,579 (GRCm39) T424I probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r61 A C 7: 41,916,557 (GRCm39) D390A probably damaging Het
Xpo7 A G 14: 70,922,298 (GRCm39) probably null Het
Zfp948 T A 17: 21,805,121 (GRCm39) L37* probably null 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
R6634:Dkkl1 UTSW 7 44,859,882 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- GGCCATGTTCTGAATGAGATGTAAG -3'
(R):5'- TCATGAAGATGCCAAGGCGG -3'

Sequencing Primer
(F):5'- TTCTGAATGAGATGTAAGGAAGAGC -3'
(R):5'- AGCCCGATGTCCAGGATG -3'
Posted On 2019-05-13