Incidental Mutation 'R7900:Ddx3y'
ID 609969
Institutional Source Beutler Lab
Gene Symbol Ddx3y
Ensembl Gene ENSMUSG00000069045
Gene Name DEAD box helicase 3, Y-linked
Synonyms 8030469F12Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked, D1Pas1-rs1, Dby
MMRRC Submission 045952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.029) question?
Stock # R7900 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 1260771-1286629 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 1266594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000088729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091190] [ENSMUST00000188484]
AlphaFold Q62095
Predicted Effect probably null
Transcript: ENSMUST00000091190
SMART Domains Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045

low complexity region 124 136 N/A INTRINSIC
low complexity region 184 195 N/A INTRINSIC
DEXDc 198 417 3.39e-65 SMART
HELICc 454 535 2.61e-34 SMART
low complexity region 580 596 N/A INTRINSIC
low complexity region 603 650 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188484
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Adamtsl5 A G 10: 80,177,735 (GRCm39) F309S probably damaging Het
Ankle1 C T 8: 71,860,061 (GRCm39) T213I probably damaging Het
C4b A G 17: 34,958,751 (GRCm39) S528P probably benign Het
Camk2a A G 18: 61,090,438 (GRCm39) Y222C probably damaging Het
Cnst A G 1: 179,450,453 (GRCm39) D639G probably damaging Het
Ctbp2 A C 7: 132,616,328 (GRCm39) S202R probably benign Het
Cwf19l2 G T 9: 3,460,107 (GRCm39) L798F probably damaging Het
Cyp11a1 T A 9: 57,923,667 (GRCm39) V124E possibly damaging Het
Dlst G T 12: 85,177,292 (GRCm39) R346L probably benign Het
Dnah2 A G 11: 69,409,254 (GRCm39) S375P probably damaging Het
Dnm3 T A 1: 162,182,940 (GRCm39) Y125F probably benign Het
Dock9 C T 14: 121,783,491 (GRCm39) A2011T possibly damaging Het
Efr3a T A 15: 65,719,984 (GRCm39) probably null Het
Egln1 A T 8: 125,640,879 (GRCm39) I319N possibly damaging Het
Gata3 T A 2: 9,863,461 (GRCm39) N351I probably damaging Het
Gjd3 T C 11: 102,690,920 (GRCm39) N361S probably benign Het
Gpcpd1 T C 2: 132,376,659 (GRCm39) T546A probably damaging Het
Gpihbp1 T C 15: 75,469,791 (GRCm39) F169L probably benign Het
Gpnmb A T 6: 49,027,400 (GRCm39) I375L possibly damaging Het
Itpka A T 2: 119,580,994 (GRCm39) T381S probably benign Het
Lhx4 T C 1: 155,617,709 (GRCm39) probably benign Het
Lrguk T C 6: 34,106,129 (GRCm39) L718P probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nr1d1 T A 11: 98,660,537 (GRCm39) T477S probably benign Het
Nxnl1 A T 8: 72,019,170 (GRCm39) D18E probably damaging Het
Onecut2 G T 18: 64,474,658 (GRCm39) R403L probably damaging Het
Or51v14 T C 7: 103,260,900 (GRCm39) Y220C possibly damaging Het
Or5an1 T A 19: 12,260,705 (GRCm39) C98S probably damaging Het
Pla2r1 T C 2: 60,258,858 (GRCm39) T1177A possibly damaging Het
Prkd2 T C 7: 16,587,269 (GRCm39) V405A probably benign Het
Ranbp1 T C 16: 18,063,161 (GRCm39) T72A probably damaging Het
Retnla A C 16: 48,663,977 (GRCm39) R90S probably benign Het
Sec31b A T 19: 44,514,669 (GRCm39) I385N probably damaging Het
Slc6a19 C T 13: 73,848,583 (GRCm39) R57H probably damaging Het
Smurf1 T C 5: 144,836,183 (GRCm39) D110G probably damaging Het
Specc1 A G 11: 62,110,187 (GRCm39) Y975C probably damaging Het
Tas2r136 T A 6: 132,754,599 (GRCm39) N176I possibly damaging Het
Tecrl A C 5: 83,427,188 (GRCm39) V320G probably benign Het
Tmem245 A G 4: 56,924,973 (GRCm39) probably null Het
Tpd52l1 T A 10: 31,214,178 (GRCm39) probably null Het
Trbv2 A G 6: 41,024,908 (GRCm39) Y108C probably damaging Het
Trpm7 T C 2: 126,639,418 (GRCm39) M1689V probably benign Het
Usp24 A G 4: 106,266,597 (GRCm39) Y1855C probably damaging Het
Usp9y A T Y: 1,384,354 (GRCm39) S721R possibly damaging Het
Vwf G A 6: 125,605,439 (GRCm39) probably null Het
Washc4 T A 10: 83,409,637 (GRCm39) probably null Het
Yeats4 G A 10: 117,056,464 (GRCm39) H71Y possibly damaging Het
Zbtb38 A C 9: 96,570,989 (GRCm39) L32V probably damaging Het
Zfy1 T C Y: 725,519 (GRCm39) T749A possibly damaging Het
Other mutations in Ddx3y
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03134:Ddx3y UTSW Y 1,278,949 (GRCm39) missense possibly damaging 0.93
R0326:Ddx3y UTSW Y 1,263,321 (GRCm39) nonsense probably null
R1755:Ddx3y UTSW Y 1,279,543 (GRCm39) missense probably benign 0.00
R2029:Ddx3y UTSW Y 1,266,389 (GRCm39) missense probably benign 0.05
R2076:Ddx3y UTSW Y 1,266,593 (GRCm39) critical splice donor site probably null
R3610:Ddx3y UTSW Y 1,263,928 (GRCm39) missense probably null 1.00
R3973:Ddx3y UTSW Y 1,267,170 (GRCm39) missense probably damaging 1.00
R5041:Ddx3y UTSW Y 1,266,611 (GRCm39) missense probably benign 0.05
R5396:Ddx3y UTSW Y 1,265,965 (GRCm39) missense probably damaging 1.00
R6266:Ddx3y UTSW Y 1,266,635 (GRCm39) missense probably damaging 1.00
R6473:Ddx3y UTSW Y 1,265,971 (GRCm39) missense possibly damaging 0.93
R7048:Ddx3y UTSW Y 1,279,491 (GRCm39) missense probably benign 0.00
R8090:Ddx3y UTSW Y 1,264,897 (GRCm39) missense probably benign 0.00
R8203:Ddx3y UTSW Y 1,269,827 (GRCm39) missense probably benign
R9005:Ddx3y UTSW Y 1,282,919 (GRCm39) missense probably damaging 0.98
R9491:Ddx3y UTSW Y 1,279,465 (GRCm39) missense probably benign 0.01
R9555:Ddx3y UTSW Y 1,265,895 (GRCm39) missense probably benign 0.00
R9638:Ddx3y UTSW Y 1,263,599 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-20