Incidental Mutation 'R0528:Dhx38'
ID 48998
Institutional Source Beutler Lab
Gene Symbol Dhx38
Ensembl Gene ENSMUSG00000037993
Gene Name DEAH-box helicase 38
Synonyms Ddx38, 5730550P09Rik, Prp16
MMRRC Submission 038720-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R0528 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 110274643-110292493 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110289293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 36 (Q36K)
Ref Sequence ENSEMBL: ENSMUSP00000047865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034159] [ENSMUST00000042601]
AlphaFold Q80X98
Predicted Effect probably benign
Transcript: ENSMUST00000034159
SMART Domains Protein: ENSMUSP00000034159
Gene: ENSMUSG00000031723

DomainStartEndE-ValueType
Pfam:DIM1 4 136 1.6e-58 PFAM
Pfam:Thioredoxin 6 109 3.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042601
AA Change: Q36K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: Q36K

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
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 96% (65/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,838,848 (GRCm39) W674G probably damaging Het
Abcc9 G A 6: 142,638,606 (GRCm39) H103Y probably damaging Het
Ano7 A G 1: 93,323,224 (GRCm39) N495S probably null Het
Aoc1l3 T A 6: 48,964,965 (GRCm39) D324E probably benign Het
Ash1l A G 3: 88,889,584 (GRCm39) N488D probably benign Het
Astn2 A G 4: 65,563,119 (GRCm39) probably benign Het
Atraid T A 5: 31,209,796 (GRCm39) probably benign Het
Baz2b T C 2: 59,767,083 (GRCm39) R866G probably damaging Het
Cep164 T A 9: 45,688,234 (GRCm39) probably benign Het
Clec4f G A 6: 83,629,776 (GRCm39) Q261* probably null Het
Cpne4 A T 9: 104,563,640 (GRCm39) N6Y probably damaging Het
Dna2 C A 10: 62,793,910 (GRCm39) Q341K probably benign Het
Dynap A G 18: 70,375,165 (GRCm39) probably benign Het
Eif3l T C 15: 78,973,809 (GRCm39) V408A probably benign Het
Foxi3 T A 6: 70,934,122 (GRCm39) I203N probably damaging Het
Gcc2 T A 10: 58,134,511 (GRCm39) L1495Q probably damaging Het
Gpr158 A G 2: 21,830,019 (GRCm39) D688G probably damaging Het
Hcfc2 C A 10: 82,575,079 (GRCm39) T246K probably damaging Het
Hdc C T 2: 126,458,152 (GRCm39) E57K probably benign Het
Iqsec3 G C 6: 121,389,743 (GRCm39) probably benign Het
Islr2 T A 9: 58,106,645 (GRCm39) E205V probably damaging Het
Klf9 T C 19: 23,119,498 (GRCm39) L127P probably benign Het
Lamc2 A T 1: 152,999,840 (GRCm39) L1173Q probably damaging Het
Lipe G A 7: 25,097,901 (GRCm39) T14I possibly damaging Het
Lnpep A G 17: 17,751,394 (GRCm39) probably benign Het
Lrrc15 A G 16: 30,092,566 (GRCm39) S258P probably damaging Het
Macc1 A T 12: 119,410,780 (GRCm39) Y516F probably benign Het
Megf6 A G 4: 154,343,630 (GRCm39) T718A probably benign Het
Mtcl2 A G 2: 156,862,612 (GRCm39) L1439P probably damaging Het
Myh1 A G 11: 67,111,445 (GRCm39) D1628G probably damaging Het
Naca C T 10: 127,879,162 (GRCm39) T1398I probably benign Het
Or1f12 A G 13: 21,721,416 (GRCm39) F238S possibly damaging Het
Or2a54 A T 6: 43,093,150 (GRCm39) H158L possibly damaging Het
Padi4 A G 4: 140,496,740 (GRCm39) V52A possibly damaging Het
Paqr5 G A 9: 61,863,527 (GRCm39) T251I probably damaging Het
Pcm1 A G 8: 41,768,967 (GRCm39) D1611G probably damaging Het
Prss12 G A 3: 123,276,445 (GRCm39) R358K probably benign Het
Racgap1 A T 15: 99,526,587 (GRCm39) H325Q probably damaging Het
Rbm12b1 A G 4: 12,145,657 (GRCm39) H543R probably benign Het
Rc3h1 A T 1: 160,795,228 (GRCm39) N1076I probably damaging Het
Rp1 A G 1: 4,415,088 (GRCm39) L2008P possibly damaging Het
Rsph3a A G 17: 8,164,919 (GRCm39) H93R possibly damaging Het
Sbf1 C T 15: 89,172,915 (GRCm39) R1840H probably damaging Het
Skic8 T A 9: 54,630,219 (GRCm39) probably benign Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,937,085 (GRCm39) S56P probably damaging Het
Tiam2 A T 17: 3,561,346 (GRCm39) M1304L probably damaging Het
Tmprss11b G T 5: 86,819,753 (GRCm39) R9S probably damaging Het
Tnfrsf21 T A 17: 43,348,505 (GRCm39) I39N probably benign Het
Tnrc6b T C 15: 80,763,604 (GRCm39) S369P probably benign Het
Tpra1 T C 6: 88,887,372 (GRCm39) V217A probably benign Het
Uckl1 G C 2: 181,212,283 (GRCm39) probably benign Het
Vmn1r199 A T 13: 22,566,736 (GRCm39) Q10L probably benign Het
Vmn2r76 A G 7: 85,879,506 (GRCm39) S265P possibly damaging Het
Vwa5b1 A T 4: 138,321,662 (GRCm39) L377Q probably damaging Het
Wrap73 A G 4: 154,229,776 (GRCm39) D49G probably damaging Het
Zfp764 T A 7: 127,004,051 (GRCm39) Q360L possibly damaging Het
Zfp846 G A 9: 20,499,224 (GRCm39) probably benign Het
Zranb2 T C 3: 157,240,096 (GRCm39) I14T 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
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
R4367:Dhx38 UTSW 8 110,279,763 (GRCm39) missense probably damaging 1.00
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'- TGGGCGAATATTTTCTGACCACCAC -3'
(R):5'- GAGGTAGGGATAGCCACTTAAATGCAC -3'

Sequencing Primer
(F):5'- CTACTTCGGCCAGCCTG -3'
(R):5'- GGGATACAGTAGACCGGAGTTTTC -3'
Posted On 2013-06-12