Incidental Mutation 'R6473:Ddx3y'
ID 520382
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 044606-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.029) question?
Stock # R6473 (G1)
Quality Score 221.999
Status Validated
Chromosome Y
Chromosomal Location 1260771-1286629 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 1265971 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Tyrosine to Cysteine at position 342 (Y342C)
Ref Sequence ENSEMBL: ENSMUSP00000088729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091190] [ENSMUST00000188484]
AlphaFold Q62095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000084813
Predicted Effect possibly damaging
Transcript: ENSMUST00000091190
AA Change: Y342C

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088729
Gene: ENSMUSG00000069045
AA Change: Y342C

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000187596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188182
Predicted Effect probably benign
Transcript: ENSMUST00000188484
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 96.9%
  • 20x: 89.9%
Validation Efficiency 95% (36/38)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 T C 16: 85,596,531 (GRCm39) D106G probably damaging Het
Adat3 A G 10: 80,442,801 (GRCm39) D213G probably damaging Het
Akt1 T C 12: 112,628,694 (GRCm39) D32G probably damaging Het
Ampd1 C T 3: 103,002,962 (GRCm39) R61* probably null Het
Ash2l T A 8: 26,325,008 (GRCm39) T184S probably damaging Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Chmp2b C T 16: 65,343,758 (GRCm39) G96S probably damaging Het
Cyp2d26 T C 15: 82,675,968 (GRCm39) N248S probably benign Het
Cyp46a1 G T 12: 108,321,734 (GRCm39) R320L possibly damaging Het
Dact1 A G 12: 71,364,472 (GRCm39) T418A probably benign Het
Dnm3 T A 1: 162,305,274 (GRCm39) Q40L probably damaging Het
Eif2s1 T C 12: 78,927,999 (GRCm39) I225T probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eps8 A T 6: 137,456,096 (GRCm39) I795N probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fbxw7 T C 3: 84,859,687 (GRCm39) probably benign Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Idh3b AG AGCACCACAACTG 2: 130,121,593 (GRCm39) probably null Het
Kalrn A G 16: 34,025,672 (GRCm39) I551T probably damaging Het
Madd T C 2: 90,997,404 (GRCm39) T755A probably benign Het
Mrps31 A G 8: 22,904,881 (GRCm39) D90G probably benign Het
Or14j4 T A 17: 37,920,887 (GRCm39) T252S possibly damaging Het
Or5h23 A T 16: 58,906,406 (GRCm39) L147M probably benign Het
P2ry12 T A 3: 59,124,932 (GRCm39) I248F probably benign Het
Ptgfrn T C 3: 100,952,955 (GRCm39) R760G probably damaging Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Homo
Slpi T C 2: 164,196,846 (GRCm39) Y116C probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Terb1 T A 8: 105,199,669 (GRCm39) E425V probably damaging Het
Thbs2 A G 17: 14,906,058 (GRCm39) S281P probably benign Het
Tnik A G 3: 28,317,792 (GRCm39) M1V probably null Het
Usp16 G A 16: 87,280,023 (GRCm39) S741N probably benign Het
Usp48 T C 4: 137,336,419 (GRCm39) probably null Het
Vipr1 T C 9: 121,497,621 (GRCm39) S380P probably damaging Het
Vmn1r21 A T 6: 57,820,583 (GRCm39) I287K probably damaging Het
Zfp157 T C 5: 138,454,188 (GRCm39) C129R probably 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
R7048:Ddx3y UTSW Y 1,279,491 (GRCm39) missense probably benign 0.00
R7900:Ddx3y UTSW Y 1,266,594 (GRCm39) critical splice donor site probably null
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
(F):5'- AGTCACGAGCAAGCATCTG -3'
(R):5'- CCTCAGAGTAATTGTCCACCC -3'

Sequencing Primer
(F):5'- TCACGAGCAAGCATCTGAAAATG -3'
(R):5'- CCTTCCCATTTCTGAGATAATGGATG -3'
Posted On 2018-06-06