Incidental Mutation 'R4933:Dkkl1'
ID 380721
Institutional Source Beutler Lab
Gene Symbol Dkkl1
Ensembl Gene ENSMUSG00000030792
Gene Name dickkopf-like 1
Synonyms SGY1, Soggy, SGY-1, mSgy
MMRRC Submission 042533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4933 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44856943-44861571 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44860949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 10 (L10Q)
Ref Sequence ENSEMBL: ENSMUSP00000147489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033057] [ENSMUST00000033060] [ENSMUST00000107801] [ENSMUST00000209466] [ENSMUST00000210447] [ENSMUST00000210741] [ENSMUST00000211744]
AlphaFold Q9QZL9
Predicted Effect probably null
Transcript: ENSMUST00000033057
AA Change: L10Q
SMART Domains Protein: ENSMUSP00000033057
Gene: ENSMUSG00000030792
AA Change: L10Q

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 128 144 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033060
SMART Domains Protein: ENSMUSP00000033060
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
TEA 36 107 4.84e-52 SMART
low complexity region 201 217 N/A INTRINSIC
PDB:3L15|B 218 445 1e-143 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000107801
SMART Domains Protein: ENSMUSP00000103431
Gene: ENSMUSG00000030796

DomainStartEndE-ValueType
TEA 36 107 4.84e-52 SMART
low complexity region 201 217 N/A INTRINSIC
PDB:3L15|B 218 445 1e-143 PDB
Predicted Effect probably null
Transcript: ENSMUST00000209466
AA Change: L10Q
Predicted Effect probably benign
Transcript: ENSMUST00000210447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210570
Predicted Effect probably benign
Transcript: ENSMUST00000210741
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211594
Predicted Effect probably benign
Transcript: ENSMUST00000211744
Meta Mutation Damage Score 0.2208 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency 97% (73/75)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,276,226 (GRCm39) E643G probably damaging Het
Abca2 T C 2: 25,334,839 (GRCm39) V1937A probably benign Het
Acot10 A T 15: 20,666,416 (GRCm39) N108K possibly damaging Het
Agtpbp1 A T 13: 59,648,386 (GRCm39) M478K probably benign Het
Akirin1 G A 4: 123,630,651 (GRCm39) S191F probably damaging Het
Aoc1l3 T C 6: 48,964,426 (GRCm39) S145P probably damaging Het
Aurkb T C 11: 68,938,970 (GRCm39) probably benign Het
Cabyr T C 18: 12,877,549 (GRCm39) probably benign Het
Ccp110 A G 7: 118,324,542 (GRCm39) E688G probably damaging Het
Champ1 T A 8: 13,929,137 (GRCm39) S432T probably benign Het
Crybg1 T A 10: 43,875,209 (GRCm39) N633I probably damaging Het
Dagla A T 19: 10,247,079 (GRCm39) probably null Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Fndc7 G T 3: 108,783,986 (GRCm39) Q208K probably benign Het
Gins4 A T 8: 23,724,796 (GRCm39) C53S probably damaging Het
Gja8 T A 3: 96,826,351 (GRCm39) probably benign Het
Golph3l T A 3: 95,524,734 (GRCm39) N328K probably benign Het
Haus6 A C 4: 86,503,524 (GRCm39) probably benign Het
Hdac5 A G 11: 102,091,389 (GRCm39) probably benign Het
Ide A G 19: 37,255,155 (GRCm39) Y883H unknown Het
Igf2r A G 17: 12,910,764 (GRCm39) probably null Het
Kdm3b T C 18: 34,943,446 (GRCm39) Y723H probably damaging Het
Kif21b G A 1: 136,079,063 (GRCm39) probably null Het
Lancl1 A T 1: 67,060,193 (GRCm39) N77K probably benign Het
Lyst T A 13: 13,812,349 (GRCm39) N920K probably damaging Het
Lyst G A 13: 13,933,963 (GRCm39) V3554I probably benign Het
Map1a G A 2: 121,136,386 (GRCm39) A2163T probably damaging Het
Mapk7 G T 11: 61,384,734 (GRCm39) probably benign Het
Myo10 C A 15: 25,781,204 (GRCm39) Q154K probably damaging Het
Or2a7 C T 6: 43,151,255 (GRCm39) L112F probably benign Het
Or2h15 A G 17: 38,441,441 (GRCm39) I214T probably damaging Het
Pcdhgb2 G A 18: 37,825,267 (GRCm39) V753M probably benign Het
Pnn T A 12: 59,117,013 (GRCm39) L195Q probably damaging Het
Pot1a A G 6: 25,771,540 (GRCm39) V227A possibly damaging Het
Ppp1r21 T A 17: 88,855,049 (GRCm39) D109E probably benign Het
Prr15l G A 11: 96,825,588 (GRCm39) G73S probably damaging Het
Rnf148 A G 6: 23,654,339 (GRCm39) F219S probably benign Het
Rnpep C A 1: 135,194,764 (GRCm39) probably benign Het
Ryr1 T C 7: 28,803,723 (GRCm39) T643A probably damaging Het
Ryr2 A T 13: 11,960,831 (GRCm39) C36S probably damaging Het
Shc3 G T 13: 51,596,805 (GRCm39) T406N probably benign Het
Slit3 G T 11: 35,579,420 (GRCm39) G1199V probably damaging Het
Spata6l G T 19: 28,919,175 (GRCm39) H195N possibly damaging Het
Sptbn5 G A 2: 119,880,601 (GRCm39) noncoding transcript Het
St8sia6 T C 2: 13,670,253 (GRCm39) N236D probably damaging Het
Stpg1 A T 4: 135,233,727 (GRCm39) Q3L probably benign Het
Sult3a1 T A 10: 33,742,550 (GRCm39) I59N probably damaging Het
Vmn1r208 T G 13: 22,956,958 (GRCm39) I180L probably benign Het
Vmn2r51 A T 7: 9,832,247 (GRCm39) N446K probably damaging Het
Vmn2r63 A T 7: 42,553,402 (GRCm39) I618N probably damaging Het
Wrn T C 8: 33,812,371 (GRCm39) N182S probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp764l1 A G 7: 126,992,521 (GRCm39) Y30H probably damaging Het
Zmynd8 A G 2: 165,676,871 (GRCm39) V249A possibly damaging Het
Zswim2 A G 2: 83,755,571 (GRCm39) L110P probably damaging 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
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
R7053:Dkkl1 UTSW 7 44,857,022 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTGTTCAACCCAACACCTG -3'
(R):5'- AACGCCTACAGAATCCAGGG -3'

Sequencing Primer
(F):5'- GACCTCAAACTTCCTGTGTAGGG -3'
(R):5'- TCCAGGGGGATGCAGGG -3'
Posted On 2016-04-15