Incidental Mutation 'IGL02243:Ddx19a'
ID 286074
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx19a
Ensembl Gene ENSMUSG00000015023
Gene Name DEAD box helicase 19a
Synonyms Eif4a-rs1, DBP5, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19a, Ddx19
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02243
Quality Score
Status
Chromosome 8
Chromosomal Location 111701628-111724432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 111703088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 450 (I450L)
Ref Sequence ENSEMBL: ENSMUSP00000047898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034197] [ENSMUST00000040416]
AlphaFold Q61655
Predicted Effect probably benign
Transcript: ENSMUST00000034197
SMART Domains Protein: ENSMUSP00000034197
Gene: ENSMUSG00000031749

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Glyco_transf_29 94 349 3.8e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040416
AA Change: I450L

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023
AA Change: I450L

DomainStartEndE-ValueType
low complexity region 39 53 N/A INTRINSIC
DEXDc 110 309 8.58e-44 SMART
HELICc 346 433 2.59e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130133
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173183
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cd19 T C 7: 126,009,965 (GRCm39) probably null Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Ddx19a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00476:Ddx19a APN 8 111,703,102 (GRCm39) missense probably benign
IGL01395:Ddx19a APN 8 111,717,164 (GRCm39) splice site probably benign
IGL01676:Ddx19a APN 8 111,707,621 (GRCm39) critical splice donor site probably null
IGL02677:Ddx19a APN 8 111,716,241 (GRCm39) missense probably benign 0.24
IGL02870:Ddx19a APN 8 111,710,258 (GRCm39) missense probably damaging 1.00
R0416:Ddx19a UTSW 8 111,705,689 (GRCm39) missense probably damaging 0.96
R1574:Ddx19a UTSW 8 111,719,743 (GRCm39) splice site probably benign
R1664:Ddx19a UTSW 8 111,716,130 (GRCm39) missense probably damaging 0.99
R4470:Ddx19a UTSW 8 111,703,111 (GRCm39) missense probably benign 0.00
R4552:Ddx19a UTSW 8 111,705,198 (GRCm39) nonsense probably null
R4668:Ddx19a UTSW 8 111,705,716 (GRCm39) missense probably damaging 1.00
R4847:Ddx19a UTSW 8 111,703,677 (GRCm39) missense probably damaging 1.00
R5390:Ddx19a UTSW 8 111,707,263 (GRCm39) nonsense probably null
R5815:Ddx19a UTSW 8 111,705,781 (GRCm39) nonsense probably null
R6842:Ddx19a UTSW 8 111,705,257 (GRCm39) missense possibly damaging 0.69
R7045:Ddx19a UTSW 8 111,719,706 (GRCm39) missense probably benign
R7647:Ddx19a UTSW 8 111,703,259 (GRCm39) splice site probably null
R8186:Ddx19a UTSW 8 111,710,274 (GRCm39) missense probably benign 0.01
R8716:Ddx19a UTSW 8 111,710,243 (GRCm39) missense probably damaging 0.98
R8986:Ddx19a UTSW 8 111,705,188 (GRCm39) missense probably benign 0.01
R9051:Ddx19a UTSW 8 111,710,228 (GRCm39) missense probably benign 0.44
R9721:Ddx19a UTSW 8 111,705,107 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16