Incidental Mutation 'IGL02677:Ddx19a'
ID 303198
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 # IGL02677
Quality Score
Status
Chromosome 8
Chromosomal Location 111701628-111724432 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111716241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 53 (E53G)
Ref Sequence ENSEMBL: ENSMUSP00000047898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040416]
AlphaFold Q61655
Predicted Effect probably benign
Transcript: ENSMUST00000040416
AA Change: E53G

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023
AA Change: E53G

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: ENSMUST00000173183
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign 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
IGL02243:Ddx19a APN 8 111,703,088 (GRCm39) missense probably benign 0.06
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