Incidental Mutation 'IGL02191:Ddx59'
ID 283871
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx59
Ensembl Gene ENSMUSG00000026404
Gene Name DEAD box helicase 59
Synonyms DEAD (Asp-Glu-Ala-Asp) box polypeptide 59, 4833411G06Rik, 1210002B07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02191
Quality Score
Status
Chromosome 1
Chromosomal Location 136343009-136367896 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136344896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 189 (L189P)
Ref Sequence ENSEMBL: ENSMUSP00000027655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027655]
AlphaFold Q9DBN9
Predicted Effect probably damaging
Transcript: ENSMUST00000027655
AA Change: L189P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027655
Gene: ENSMUSG00000026404
AA Change: L189P

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmem220 G A 11: 66,921,933 (GRCm39) C101Y probably damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Ddx59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02148:Ddx59 APN 1 136,361,565 (GRCm39) missense probably damaging 0.99
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
R3922:Ddx59 UTSW 1 136,344,482 (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
Posted On 2015-04-16