Incidental Mutation 'R4367:Dhx38'
ID 325811
Institutional Source Beutler Lab
Gene Symbol Dhx38
Ensembl Gene ENSMUSG00000037993
Gene Name DEAH-box helicase 38
Synonyms Ddx38, 5730550P09Rik, Prp16
MMRRC Submission 041673-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R4367 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 110274643-110292493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110279763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 976 (V976I)
Ref Sequence ENSEMBL: ENSMUSP00000047865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042601]
AlphaFold Q80X98
Predicted Effect probably damaging
Transcript: ENSMUST00000042601
AA Change: V976I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: V976I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212667
Meta Mutation Damage Score 0.2765 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb2 T C 18: 62,312,127 (GRCm39) I233V probably damaging Het
Alox5 T A 6: 116,437,924 (GRCm39) Y21F possibly damaging Het
Ank2 T C 3: 126,739,798 (GRCm39) T1942A probably benign Het
Aoc1l1 T C 6: 48,953,064 (GRCm39) S330P probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bckdk C T 7: 127,505,591 (GRCm39) A238V probably benign Het
Casp1 A G 9: 5,299,333 (GRCm39) T21A probably benign Het
Ccdc39 T C 3: 33,880,671 (GRCm39) H432R probably benign Het
Cttnbp2 A C 6: 18,405,248 (GRCm39) C574G probably damaging Het
Cyp1a1 T C 9: 57,607,432 (GRCm39) V20A probably benign Het
Dnah6 A G 6: 73,126,467 (GRCm39) S1287P possibly damaging Het
Dnttip2 T C 3: 122,070,146 (GRCm39) S454P probably damaging Het
Drp2 A T X: 133,335,884 (GRCm39) probably benign Het
Flcn C T 11: 59,694,610 (GRCm39) V121I possibly damaging Het
Fmo1 G C 1: 162,661,217 (GRCm39) Y355* probably null Het
Git2 T A 5: 114,902,727 (GRCm39) H138L probably damaging Het
Gpr162 G A 6: 124,838,658 (GRCm39) probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnt1 T C 2: 25,797,638 (GRCm39) I881T probably damaging Het
Lama3 T A 18: 12,646,747 (GRCm39) C1754S probably damaging Het
Mpp3 A T 11: 101,914,246 (GRCm39) D116E probably benign Het
Myh11 T C 16: 14,036,747 (GRCm39) D985G probably damaging Het
Necap1 T C 6: 122,864,337 (GRCm39) V273A probably damaging Het
Nlrc5 T C 8: 95,203,192 (GRCm39) S431P probably damaging Het
Nutm2 A T 13: 50,623,920 (GRCm39) T206S probably benign Het
Or2d3 GAACAACAACAA GAACAACAA 7: 106,490,567 (GRCm39) probably benign Het
Or5p79 C T 7: 108,221,096 (GRCm39) L26F probably benign Het
Or8g19 G A 9: 39,055,725 (GRCm39) A110T probably damaging Het
Phactr2 A G 10: 13,129,564 (GRCm39) S235P probably damaging Het
Podnl1 G A 8: 84,853,897 (GRCm39) R89H probably benign Het
Prpf38b T C 3: 108,818,487 (GRCm39) Y91C probably damaging Het
Radil C T 5: 142,480,560 (GRCm39) A632T probably benign Het
Rpap2 G A 5: 107,749,661 (GRCm39) V62I possibly damaging Het
Sdf2 C T 11: 78,141,863 (GRCm39) T66I probably damaging Het
Specc1 T C 11: 62,009,356 (GRCm39) S371P probably damaging Het
Suco T C 1: 161,674,799 (GRCm39) E416G probably damaging Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tars3 C T 7: 65,332,567 (GRCm39) T556M probably damaging Het
Tcirg1 C T 19: 3,949,069 (GRCm39) D407N probably damaging Het
Tefm G T 11: 80,031,156 (GRCm39) L27I probably benign Het
Tenm2 A G 11: 35,918,225 (GRCm39) I1845T probably benign Het
Tfam A T 10: 71,069,233 (GRCm39) I119N probably damaging Het
Tle1 ACAGGTTTCTTCAGGTTTCTT ACAGGTTTCTT 4: 72,036,400 (GRCm39) probably benign Het
Trpm6 T C 19: 18,804,889 (GRCm39) I947T probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Usp54 T C 14: 20,611,202 (GRCm39) T1205A probably benign Het
Vmn2r25 T C 6: 123,805,496 (GRCm39) R454G probably damaging Het
Xylb T C 9: 119,217,781 (GRCm39) V477A probably benign Het
Other mutations in Dhx38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00508:Dhx38 APN 8 110,283,566 (GRCm39) missense possibly damaging 0.49
IGL00821:Dhx38 APN 8 110,282,286 (GRCm39) missense probably benign 0.00
IGL00910:Dhx38 APN 8 110,285,666 (GRCm39) missense probably benign 0.07
IGL01011:Dhx38 APN 8 110,289,323 (GRCm39) missense probably benign
IGL01401:Dhx38 APN 8 110,278,746 (GRCm39) missense probably benign 0.15
IGL02133:Dhx38 APN 8 110,284,873 (GRCm39) nonsense probably null
IGL02529:Dhx38 APN 8 110,285,645 (GRCm39) missense probably benign 0.00
IGL02652:Dhx38 APN 8 110,282,761 (GRCm39) missense probably damaging 1.00
IGL03241:Dhx38 APN 8 110,289,288 (GRCm39) missense possibly damaging 0.47
IGL03378:Dhx38 APN 8 110,285,722 (GRCm39) splice site probably null
R0358:Dhx38 UTSW 8 110,279,094 (GRCm39) missense probably benign 0.13
R0375:Dhx38 UTSW 8 110,281,813 (GRCm39) missense possibly damaging 0.89
R0437:Dhx38 UTSW 8 110,285,261 (GRCm39) splice site probably benign
R0481:Dhx38 UTSW 8 110,282,848 (GRCm39) splice site probably benign
R0492:Dhx38 UTSW 8 110,288,576 (GRCm39) splice site probably benign
R0528:Dhx38 UTSW 8 110,289,293 (GRCm39) missense probably benign 0.00
R0607:Dhx38 UTSW 8 110,285,575 (GRCm39) missense probably benign 0.07
R1638:Dhx38 UTSW 8 110,280,177 (GRCm39) missense probably damaging 1.00
R2020:Dhx38 UTSW 8 110,283,501 (GRCm39) splice site probably benign
R2056:Dhx38 UTSW 8 110,289,352 (GRCm39) unclassified probably benign
R2096:Dhx38 UTSW 8 110,280,891 (GRCm39) missense probably damaging 1.00
R2152:Dhx38 UTSW 8 110,287,306 (GRCm39) missense probably benign 0.00
R2154:Dhx38 UTSW 8 110,287,306 (GRCm39) missense probably benign 0.00
R2382:Dhx38 UTSW 8 110,282,772 (GRCm39) missense probably damaging 0.99
R4368:Dhx38 UTSW 8 110,279,763 (GRCm39) missense probably damaging 1.00
R4369:Dhx38 UTSW 8 110,279,763 (GRCm39) missense probably damaging 1.00
R5250:Dhx38 UTSW 8 110,283,152 (GRCm39) missense probably damaging 1.00
R5354:Dhx38 UTSW 8 110,282,378 (GRCm39) missense probably damaging 1.00
R5668:Dhx38 UTSW 8 110,280,048 (GRCm39) missense probably damaging 1.00
R5777:Dhx38 UTSW 8 110,283,534 (GRCm39) missense possibly damaging 0.81
R5784:Dhx38 UTSW 8 110,286,245 (GRCm39) nonsense probably null
R6799:Dhx38 UTSW 8 110,279,834 (GRCm39) missense probably damaging 1.00
R6915:Dhx38 UTSW 8 110,286,231 (GRCm39) missense probably benign 0.15
R6932:Dhx38 UTSW 8 110,279,307 (GRCm39) missense probably damaging 1.00
R7042:Dhx38 UTSW 8 110,283,617 (GRCm39) missense possibly damaging 0.55
R7248:Dhx38 UTSW 8 110,285,559 (GRCm39) missense probably benign 0.15
R7394:Dhx38 UTSW 8 110,283,155 (GRCm39) missense probably damaging 1.00
R7513:Dhx38 UTSW 8 110,287,221 (GRCm39) missense probably benign 0.00
R7569:Dhx38 UTSW 8 110,287,327 (GRCm39) missense probably damaging 0.98
R8003:Dhx38 UTSW 8 110,282,772 (GRCm39) missense probably damaging 0.99
R8071:Dhx38 UTSW 8 110,285,333 (GRCm39) missense probably benign 0.10
R8537:Dhx38 UTSW 8 110,280,012 (GRCm39) missense probably damaging 1.00
R8852:Dhx38 UTSW 8 110,289,361 (GRCm39) nonsense probably null
R8860:Dhx38 UTSW 8 110,289,361 (GRCm39) nonsense probably null
R8937:Dhx38 UTSW 8 110,283,098 (GRCm39) missense probably damaging 0.96
R9099:Dhx38 UTSW 8 110,282,783 (GRCm39) missense probably damaging 1.00
Z1177:Dhx38 UTSW 8 110,282,717 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GACTACGAGATTGAAGATGGTCTTTC -3'
(R):5'- GGACAGTTCTGCCCTTTGTC -3'

Sequencing Primer
(F):5'- TGACCCAGCCTTCCGAC -3'
(R):5'- TGTCCACTGTTGACTGCAG -3'
Posted On 2015-07-06