Incidental Mutation 'IGL02529:Dhx38'
ID297224
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx38
Ensembl Gene ENSMUSG00000037993
Gene NameDEAH (Asp-Glu-Ala-His) box polypeptide 38
Synonyms5730550P09Rik, Ddx38, Prp16
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.965) question?
Stock #IGL02529
Quality Score
Status
Chromosome8
Chromosomal Location109548011-109565861 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 109559013 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 396 (E396G)
Ref Sequence ENSEMBL: ENSMUSP00000047865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042601]
Predicted Effect probably benign
Transcript: ENSMUST00000042601
AA Change: E396G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: E396G

DomainStartEndE-ValueType
Blast:DEXDc 3 146 2e-46 BLAST
low complexity region 147 204 N/A INTRINSIC
Blast:DEXDc 205 444 1e-105 BLAST
low complexity region 511 525 N/A INTRINSIC
DEXDc 531 715 6.88e-34 SMART
HELICc 759 862 1.11e-19 SMART
HA2 923 1013 3.22e-32 SMART
low complexity region 1163 1194 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,661,233 H925L probably benign Het
Agpat5 T A 8: 18,881,754 Y297N possibly damaging Het
Apobec3 C T 15: 79,897,687 probably benign Het
Atpaf1 C A 4: 115,791,269 A161E probably damaging Het
Bnc1 A T 7: 81,977,368 D91E probably damaging Het
Capg G A 6: 72,555,846 V98I probably benign Het
Ccdc7b C T 8: 129,178,225 L115F possibly damaging Het
Ces2a T A 8: 104,737,219 probably benign Het
Cldn6 T G 17: 23,681,317 V85G probably damaging Het
Clec2e T C 6: 129,098,496 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dock8 A T 19: 25,100,926 K532* probably null Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Gmip G A 8: 69,816,789 G537E probably damaging Het
Hacd1 T C 2: 14,045,202 H64R probably damaging Het
Hdac3 G T 18: 37,944,132 Q230K probably benign Het
Htt C T 5: 34,819,043 probably benign Het
Il18r1 A G 1: 40,487,059 D255G possibly damaging Het
Krt82 T A 15: 101,550,396 R70* probably null Het
Krt9 G T 11: 100,189,966 H353Q probably damaging Het
Kyat3 T C 3: 142,720,474 I57T probably benign Het
L1td1 A G 4: 98,737,421 K618E probably benign Het
Limch1 C A 5: 67,002,613 N617K possibly damaging Het
Lsm8 T C 6: 18,851,652 F34S probably damaging Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Mmrn2 C A 14: 34,398,613 A480E possibly damaging Het
Mthfd1 A G 12: 76,303,709 I474V probably benign Het
Mycl A G 4: 122,996,977 K152R probably damaging Het
Numa1 A G 7: 101,999,953 probably null Het
Olfr474 G T 7: 107,955,216 V192F possibly damaging Het
Otog A C 7: 46,259,957 D617A probably damaging Het
Ppef2 A G 5: 92,244,737 I267T probably damaging Het
Ptprq A G 10: 107,635,365 Y1392H probably benign Het
Rasgrp3 G T 17: 75,525,102 K639N possibly damaging Het
Rgs19 C T 2: 181,689,150 R203H probably benign Het
Scnn1g C A 7: 121,742,446 probably benign Het
Tmem181b-ps T C 17: 6,466,921 noncoding transcript Het
Vmn2r118 A G 17: 55,610,870 V214A possibly damaging Het
Zfp811 T C 17: 32,797,815 Y417C probably damaging Het
Other mutations in Dhx38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Dhx38 APN 8 109556934 missense possibly damaging 0.49
IGL00821:Dhx38 APN 8 109555654 missense probably benign 0.00
IGL00910:Dhx38 APN 8 109559034 missense probably benign 0.07
IGL01011:Dhx38 APN 8 109562691 missense probably benign
IGL01401:Dhx38 APN 8 109552114 missense probably benign 0.15
IGL02133:Dhx38 APN 8 109558241 nonsense probably null
IGL02652:Dhx38 APN 8 109556129 missense probably damaging 1.00
IGL03241:Dhx38 APN 8 109562656 missense possibly damaging 0.47
IGL03378:Dhx38 APN 8 109559090 splice site probably null
R0358:Dhx38 UTSW 8 109552462 missense probably benign 0.13
R0375:Dhx38 UTSW 8 109555181 missense possibly damaging 0.89
R0437:Dhx38 UTSW 8 109558629 splice site probably benign
R0481:Dhx38 UTSW 8 109556216 splice site probably benign
R0492:Dhx38 UTSW 8 109561944 splice site probably benign
R0528:Dhx38 UTSW 8 109562661 missense probably benign 0.00
R0607:Dhx38 UTSW 8 109558943 missense probably benign 0.07
R1638:Dhx38 UTSW 8 109553545 missense probably damaging 1.00
R2020:Dhx38 UTSW 8 109556869 splice site probably benign
R2056:Dhx38 UTSW 8 109562720 unclassified probably benign
R2096:Dhx38 UTSW 8 109554259 missense probably damaging 1.00
R2152:Dhx38 UTSW 8 109560674 missense probably benign 0.00
R2154:Dhx38 UTSW 8 109560674 missense probably benign 0.00
R2382:Dhx38 UTSW 8 109556140 missense probably damaging 0.99
R4367:Dhx38 UTSW 8 109553131 missense probably damaging 1.00
R4368:Dhx38 UTSW 8 109553131 missense probably damaging 1.00
R4369:Dhx38 UTSW 8 109553131 missense probably damaging 1.00
R5250:Dhx38 UTSW 8 109556520 missense probably damaging 1.00
R5354:Dhx38 UTSW 8 109555746 missense probably damaging 1.00
R5668:Dhx38 UTSW 8 109553416 missense probably damaging 1.00
R5777:Dhx38 UTSW 8 109556902 missense possibly damaging 0.81
R5784:Dhx38 UTSW 8 109559613 nonsense probably null
R6799:Dhx38 UTSW 8 109553202 missense probably damaging 1.00
R6915:Dhx38 UTSW 8 109559599 missense probably benign 0.15
R6932:Dhx38 UTSW 8 109552675 missense probably damaging 1.00
R7042:Dhx38 UTSW 8 109556985 missense possibly damaging 0.55
R7248:Dhx38 UTSW 8 109558927 missense probably benign 0.15
R7394:Dhx38 UTSW 8 109556523 missense probably damaging 1.00
R7513:Dhx38 UTSW 8 109560589 missense probably benign 0.00
R7569:Dhx38 UTSW 8 109560695 missense probably damaging 0.98
R8003:Dhx38 UTSW 8 109556140 missense probably damaging 0.99
R8071:Dhx38 UTSW 8 109558701 missense probably benign 0.10
R8537:Dhx38 UTSW 8 109553380 missense probably damaging 1.00
R8852:Dhx38 UTSW 8 109562729 nonsense probably null
R8860:Dhx38 UTSW 8 109562729 nonsense probably null
R8937:Dhx38 UTSW 8 109556466 missense probably damaging 0.96
Z1177:Dhx38 UTSW 8 109556085 missense probably benign 0.00
Posted On2015-04-16