Incidental Mutation 'R3922:Ddx59'
ID 306964
Institutional Source Beutler Lab
Gene Symbol Ddx59
Ensembl Gene ENSMUSG00000026404
Gene Name DEAD box helicase 59
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 59, 4833411G06Rik, 1210002B07Rik
MMRRC Submission 040819-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3922 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 136343009-136367896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136344482 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 51 (V51D)
Ref Sequence ENSEMBL: ENSMUSP00000027655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027655]
AlphaFold Q9DBN9
Predicted Effect probably benign
Transcript: ENSMUST00000027655
AA Change: V51D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027655
Gene: ENSMUSG00000026404
AA Change: V51D

DomainStartEndE-ValueType
Pfam:zf-HIT 104 133 5.5e-11 PFAM
DEXDc 222 420 5.43e-55 SMART
HELICc 458 540 1.79e-23 SMART
low complexity region 583 596 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129218
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194227
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (44/44)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
4921504E06Rik T A 2: 19,485,371 (GRCm39) E432V probably benign Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Arfgap2 C T 2: 91,105,150 (GRCm39) R405W probably damaging Het
Arhgef28 A G 13: 98,130,452 (GRCm39) L462P possibly damaging Het
Arid1b T C 17: 5,393,316 (GRCm39) V2282A probably damaging Het
Becn2 T C 1: 175,748,852 (GRCm39) V306A probably benign Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cep70 T A 9: 99,157,632 (GRCm39) *117R probably null Het
Cnnm1 A G 19: 43,428,884 (GRCm39) M1V probably null Het
Cntrl A G 2: 35,019,751 (GRCm39) E526G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Eea1 T A 10: 95,872,495 (GRCm39) N1068K probably benign Het
Egfr T A 11: 16,831,495 (GRCm39) C555S probably damaging Het
Esd A T 14: 74,980,667 (GRCm39) Q130H probably benign Het
Gpr89 A T 3: 96,798,215 (GRCm39) I147N probably damaging Het
H2-M10.1 T A 17: 36,636,577 (GRCm39) I76L probably benign Het
Lgi4 A T 7: 30,766,873 (GRCm39) D300V probably benign Het
Lrp1b C A 2: 40,567,593 (GRCm39) V276L unknown Het
Lrp2 T C 2: 69,336,720 (GRCm39) K1351E probably benign Het
Mroh8 T C 2: 157,064,731 (GRCm39) I782V probably benign Het
Msrb1 T C 17: 24,959,057 (GRCm39) S70P probably damaging Het
Nek10 T C 14: 14,861,585 (GRCm38) M547T possibly damaging Het
Or51ah3 T C 7: 103,209,912 (GRCm39) V76A probably benign Het
Or6c2b C A 10: 128,947,482 (GRCm39) V271F possibly damaging Het
Or9i2 T C 19: 13,816,130 (GRCm39) T136A probably damaging Het
P4htm T C 9: 108,460,094 (GRCm39) N227D probably benign Het
Plekhm2 T C 4: 141,356,843 (GRCm39) T787A probably benign Het
Pramel5 A G 4: 143,999,622 (GRCm39) L155P probably damaging Het
Sbno1 T C 5: 124,519,993 (GRCm39) Y1122C probably damaging Het
Scn9a T A 2: 66,357,217 (GRCm39) D1028V possibly damaging Het
Sft2d1 G T 17: 8,537,714 (GRCm39) L34F possibly damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Slc27a3 G T 3: 90,294,392 (GRCm39) H460N possibly damaging Het
Slc35g2 A T 9: 100,434,780 (GRCm39) I297N probably benign Het
Ssh1 T G 5: 114,080,769 (GRCm39) Q865P possibly damaging Het
Trp63 A G 16: 25,707,759 (GRCm39) D583G probably damaging Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Wdr43 A G 17: 71,945,296 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,465,707 (GRCm39) Y1955C probably damaging Het
Zfp108 G A 7: 23,960,773 (GRCm39) G455R probably damaging Het
Zfp353-ps A T 8: 42,536,049 (GRCm39) noncoding transcript Het
Other mutations in Ddx59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02148:Ddx59 APN 1 136,361,565 (GRCm39) missense probably damaging 0.99
IGL02191:Ddx59 APN 1 136,344,896 (GRCm39) missense probably damaging 1.00
IGL02525:Ddx59 APN 1 136,344,743 (GRCm39) missense probably benign 0.03
IGL02712:Ddx59 APN 1 136,367,519 (GRCm39) missense probably benign 0.14
R0219:Ddx59 UTSW 1 136,360,047 (GRCm39) splice site probably benign
R0898:Ddx59 UTSW 1 136,344,679 (GRCm39) missense probably damaging 1.00
R1728:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1729:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1730:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1739:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1762:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1783:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1784:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1785:Ddx59 UTSW 1 136,344,791 (GRCm39) missense probably benign
R1817:Ddx59 UTSW 1 136,360,245 (GRCm39) missense probably damaging 0.98
R1818:Ddx59 UTSW 1 136,360,245 (GRCm39) missense probably damaging 0.98
R1819:Ddx59 UTSW 1 136,360,245 (GRCm39) missense probably damaging 0.98
R2091:Ddx59 UTSW 1 136,344,447 (GRCm39) missense probably benign
R3923:Ddx59 UTSW 1 136,344,482 (GRCm39) missense probably benign
R3926:Ddx59 UTSW 1 136,344,482 (GRCm39) missense probably benign
R3945:Ddx59 UTSW 1 136,362,356 (GRCm39) missense probably damaging 0.99
R4182:Ddx59 UTSW 1 136,367,599 (GRCm39) missense probably benign 0.01
R4589:Ddx59 UTSW 1 136,367,480 (GRCm39) splice site probably null
R4636:Ddx59 UTSW 1 136,360,301 (GRCm39) missense probably damaging 0.96
R4721:Ddx59 UTSW 1 136,344,844 (GRCm39) missense probably benign 0.00
R5276:Ddx59 UTSW 1 136,347,186 (GRCm39) missense probably damaging 1.00
R6318:Ddx59 UTSW 1 136,344,610 (GRCm39) missense probably damaging 0.99
R7602:Ddx59 UTSW 1 136,361,559 (GRCm39) missense probably benign 0.01
R9424:Ddx59 UTSW 1 136,344,681 (GRCm39) nonsense probably null
R9489:Ddx59 UTSW 1 136,344,594 (GRCm39) missense probably benign 0.01
R9576:Ddx59 UTSW 1 136,344,681 (GRCm39) nonsense probably null
R9605:Ddx59 UTSW 1 136,344,594 (GRCm39) missense probably benign 0.01
R9634:Ddx59 UTSW 1 136,347,214 (GRCm39) missense probably damaging 1.00
R9690:Ddx59 UTSW 1 136,352,540 (GRCm39) missense probably damaging 0.99
R9756:Ddx59 UTSW 1 136,345,069 (GRCm39) missense probably damaging 1.00
Z1088:Ddx59 UTSW 1 136,360,189 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- TCATGGTGCAATTTCCTCAACAG -3'
(R):5'- CCAAGCTACACACGTCTTCG -3'

Sequencing Primer
(F):5'- CAGAATGTTGAAGAATGTTTGTTCC -3'
(R):5'- TGTCACAGATATACTCTCCATAACG -3'
Posted On 2015-04-17