Incidental Mutation 'IGL02750:Dkkl1'
ID306268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dkkl1
Ensembl Gene ENSMUSG00000030792
Gene Namedickkopf-like 1
SynonymsmSgy, SGY1, SGY-1, Soggy
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02750
Quality Score
Status
Chromosome7
Chromosomal Location45207519-45212147 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 45210112 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033057] [ENSMUST00000209466] [ENSMUST00000210741]
Predicted Effect probably null
Transcript: ENSMUST00000033057
SMART Domains Protein: ENSMUSP00000033057
Gene: ENSMUSG00000030792

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 128 144 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000209466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210454
Predicted Effect probably null
Transcript: ENSMUST00000210741
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,548,791 K884R probably benign Het
Ano3 T A 2: 110,665,984 probably benign Het
Baz2b C A 2: 59,968,658 S374I possibly damaging Het
Brd4 G A 17: 32,198,379 probably benign Het
Cd3g C A 9: 44,971,310 probably benign Het
Ckmt1 C T 2: 121,363,615 probably benign Het
Clcnkb T C 4: 141,405,362 probably null Het
Ehmt1 G A 2: 24,863,869 T161I probably damaging Het
Ern2 A G 7: 122,181,406 probably benign Het
Fmnl2 T C 2: 53,103,697 I368T possibly damaging Het
Gabra5 G T 7: 57,507,991 S25Y probably benign Het
Gemin7 C T 7: 19,565,419 V84M probably null Het
Gm17654 A G 14: 43,578,199 probably benign Het
Grk6 T C 13: 55,451,543 F186S probably damaging Het
Gtf2ird2 A G 5: 134,216,889 H663R probably damaging Het
Gtf3c1 T A 7: 125,676,512 I581F probably damaging Het
Herc2 T A 7: 56,204,379 probably benign Het
Hook3 A T 8: 26,095,754 probably benign Het
Ints4 T A 7: 97,517,757 probably null Het
Kpna6 T C 4: 129,661,377 N20D probably damaging Het
Krtap29-1 T C 11: 99,978,684 S124G probably benign Het
Krtap4-16 C A 11: 99,851,280 R98L possibly damaging Het
Lrrc28 T C 7: 67,531,683 D268G probably damaging Het
Mcm6 T A 1: 128,343,472 Q470L probably damaging Het
Neb T C 2: 52,291,055 H1180R probably benign Het
Nxpe3 C A 16: 55,860,375 V285L probably benign Het
Olfr118 T A 17: 37,672,609 C195* probably null Het
Olfr1281 A G 2: 111,329,288 R290G probably damaging Het
Olfr307 T A 7: 86,335,544 N284I probably damaging Het
Pdcd1 A G 1: 94,039,544 probably benign Het
Pnkp A G 7: 44,860,187 probably benign Het
Pou4f2 A T 8: 78,435,063 F304I probably damaging Het
Rita1 G A 5: 120,609,651 T194M possibly damaging Het
Rnpc3 T C 3: 113,621,939 T150A possibly damaging Het
Sema3b T C 9: 107,603,164 T168A probably benign Het
Skint5 T A 4: 113,539,362 M1205L unknown Het
Sox13 A C 1: 133,383,796 I566S probably benign Het
Tbc1d32 T C 10: 56,198,491 T209A possibly damaging Het
Tonsl G T 15: 76,633,389 P710Q probably damaging Het
Trpm5 T C 7: 143,074,484 H1018R possibly damaging Het
Ubr2 A T 17: 46,969,282 M647K probably benign Het
Ubr7 A T 12: 102,771,278 T395S possibly damaging Het
Uri1 G A 7: 37,967,481 R176* probably null Het
Vmn1r188 A T 13: 22,088,730 I285F probably damaging Het
Vmn2r116 T A 17: 23,397,634 probably benign Het
Vmn2r2 C A 3: 64,117,402 C586F probably damaging Het
Vmn2r96 T A 17: 18,582,589 W62R probably benign Het
Zfp24 A T 18: 24,017,353 S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 K1254R probably null Het
Other mutations in Dkkl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0704:Dkkl1 UTSW 7 45210115 missense probably damaging 1.00
R1778:Dkkl1 UTSW 7 45211395 splice site probably null
R2512:Dkkl1 UTSW 7 45207733 missense probably damaging 1.00
R4721:Dkkl1 UTSW 7 45207808 missense probably damaging 1.00
R4933:Dkkl1 UTSW 7 45211525 missense probably null
R6313:Dkkl1 UTSW 7 45211438 missense probably benign 0.05
R6634:Dkkl1 UTSW 7 45210458 missense possibly damaging 0.75
R7053:Dkkl1 UTSW 7 45207598 missense probably damaging 1.00
Posted On2015-04-16