Incidental Mutation 'R2881:Dhx30'
ID 260321
Institutional Source Beutler Lab
Gene Symbol Dhx30
Ensembl Gene ENSMUSG00000032480
Gene Name DExH-box helicase 30
Synonyms 2810477H02Rik, helG, C130058C04Rik, Ddx30, DEAH (Asp-Glu-Ala-His) box polypeptide 30
MMRRC Submission 040469-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2881 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 109913387-109946728 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 109927913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 73 (Y73*)
Ref Sequence ENSEMBL: ENSMUSP00000142836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062368] [ENSMUST00000111991] [ENSMUST00000165596] [ENSMUST00000196171] [ENSMUST00000196455] [ENSMUST00000196497] [ENSMUST00000197928] [ENSMUST00000198443] [ENSMUST00000198425] [ENSMUST00000199835] [ENSMUST00000200476] [ENSMUST00000199529] [ENSMUST00000200066]
AlphaFold Q99PU8
Predicted Effect probably damaging
Transcript: ENSMUST00000062368
AA Change: L76I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
AA Change: L76I

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 48 64 N/A INTRINSIC
internal_repeat_1 76 123 2.53e-5 PROSPERO
low complexity region 217 228 N/A INTRINSIC
internal_repeat_1 268 314 2.53e-5 PROSPERO
low complexity region 321 342 N/A INTRINSIC
DEXDc 461 650 9.66e-29 SMART
low complexity region 679 689 N/A INTRINSIC
HELICc 711 816 1.63e-17 SMART
HA2 879 969 5.16e-22 SMART
Pfam:OB_NTP_bind 984 1134 5.7e-9 PFAM
low complexity region 1200 1208 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000111991
AA Change: L47I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480
AA Change: L47I

DomainStartEndE-ValueType
internal_repeat_1 47 94 6.21e-5 PROSPERO
low complexity region 188 199 N/A INTRINSIC
internal_repeat_1 239 285 6.21e-5 PROSPERO
low complexity region 292 313 N/A INTRINSIC
DEXDc 432 621 9.66e-29 SMART
low complexity region 650 660 N/A INTRINSIC
HELICc 682 787 1.63e-17 SMART
HA2 850 940 5.16e-22 SMART
Pfam:OB_NTP_bind 952 1106 2.1e-7 PFAM
low complexity region 1171 1179 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165596
AA Change: L70I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480
AA Change: L70I

DomainStartEndE-ValueType
internal_repeat_1 70 117 6.77e-5 PROSPERO
low complexity region 211 222 N/A INTRINSIC
internal_repeat_1 262 308 6.77e-5 PROSPERO
low complexity region 315 336 N/A INTRINSIC
DEXDc 455 644 9.66e-29 SMART
low complexity region 673 683 N/A INTRINSIC
HELICc 705 810 1.63e-17 SMART
HA2 873 963 5.16e-22 SMART
Pfam:OB_NTP_bind 975 1129 1.8e-7 PFAM
low complexity region 1194 1202 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000196171
AA Change: L39I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480
AA Change: L39I

DomainStartEndE-ValueType
internal_repeat_1 39 86 5.84e-5 PROSPERO
low complexity region 180 191 N/A INTRINSIC
internal_repeat_1 231 277 5.84e-5 PROSPERO
low complexity region 284 305 N/A INTRINSIC
DEXDc 424 613 9.66e-29 SMART
low complexity region 642 652 N/A INTRINSIC
HELICc 674 779 1.63e-17 SMART
HA2 842 932 5.16e-22 SMART
Pfam:OB_NTP_bind 947 1097 2.8e-9 PFAM
low complexity region 1163 1171 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000196455
AA Change: L80I

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143751
Gene: ENSMUSG00000032480
AA Change: L80I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
low complexity region 52 68 N/A INTRINSIC
PDB:2DB2|A 77 113 3e-19 PDB
low complexity region 114 125 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000196497
AA Change: L70I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143529
Gene: ENSMUSG00000032480
AA Change: L70I

DomainStartEndE-ValueType
PDB:2DB2|A 67 101 5e-18 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000197928
AA Change: L47I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480
AA Change: L47I

DomainStartEndE-ValueType
internal_repeat_1 47 94 6.21e-5 PROSPERO
low complexity region 188 199 N/A INTRINSIC
internal_repeat_1 239 285 6.21e-5 PROSPERO
low complexity region 292 313 N/A INTRINSIC
DEXDc 432 621 9.66e-29 SMART
low complexity region 650 660 N/A INTRINSIC
HELICc 682 787 1.63e-17 SMART
HA2 850 940 5.16e-22 SMART
Pfam:OB_NTP_bind 952 1106 2.1e-7 PFAM
low complexity region 1171 1179 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000198443
AA Change: Y73*
SMART Domains Protein: ENSMUSP00000142836
Gene: ENSMUSG00000032480
AA Change: Y73*

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 48 64 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198026
Predicted Effect possibly damaging
Transcript: ENSMUST00000198425
AA Change: L70I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480
AA Change: L70I

DomainStartEndE-ValueType
internal_repeat_1 70 117 6.77e-5 PROSPERO
low complexity region 211 222 N/A INTRINSIC
internal_repeat_1 262 308 6.77e-5 PROSPERO
low complexity region 315 336 N/A INTRINSIC
DEXDc 455 644 9.66e-29 SMART
low complexity region 673 683 N/A INTRINSIC
HELICc 705 810 1.63e-17 SMART
HA2 873 963 5.16e-22 SMART
Pfam:OB_NTP_bind 975 1129 1.8e-7 PFAM
low complexity region 1194 1202 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000199835
AA Change: L70I

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142636
Gene: ENSMUSG00000032480
AA Change: L70I

DomainStartEndE-ValueType
PDB:2DB2|A 67 171 3e-68 PDB
SCOP:d1di2a_ 76 145 3e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200029
Predicted Effect possibly damaging
Transcript: ENSMUST00000200476
AA Change: L47I

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000199529
AA Change: L47I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480
AA Change: L47I

DomainStartEndE-ValueType
internal_repeat_1 47 94 6.21e-5 PROSPERO
low complexity region 188 199 N/A INTRINSIC
internal_repeat_1 239 285 6.21e-5 PROSPERO
low complexity region 292 313 N/A INTRINSIC
DEXDc 432 621 9.66e-29 SMART
low complexity region 650 660 N/A INTRINSIC
HELICc 682 787 1.63e-17 SMART
HA2 850 940 5.16e-22 SMART
Pfam:OB_NTP_bind 952 1106 2.1e-7 PFAM
low complexity region 1171 1179 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000200066
AA Change: L47I

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480
AA Change: L47I

DomainStartEndE-ValueType
internal_repeat_1 47 94 6.21e-5 PROSPERO
low complexity region 188 199 N/A INTRINSIC
internal_repeat_1 239 285 6.21e-5 PROSPERO
low complexity region 292 313 N/A INTRINSIC
DEXDc 432 621 9.66e-29 SMART
low complexity region 650 660 N/A INTRINSIC
HELICc 682 787 1.63e-17 SMART
HA2 850 940 5.16e-22 SMART
Pfam:OB_NTP_bind 952 1106 2.1e-7 PFAM
low complexity region 1171 1179 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit complete embryonic lethality associated with embryonic growth retardation, failure of initiation of embryo turning, and absence of organized somites and neural tube formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Atp9a T C 2: 168,548,134 (GRCm39) Y7C probably damaging Het
Bsn C T 9: 107,990,266 (GRCm39) A1829T possibly damaging Het
Camta2 A T 11: 70,570,490 (GRCm39) probably null Het
Ces1d C A 8: 93,921,659 (GRCm39) G35W probably damaging Het
Chd3 T C 11: 69,242,946 (GRCm39) D1425G probably damaging Het
Coasy G A 11: 100,976,675 (GRCm39) V482I possibly damaging Het
Cyp2j9 A T 4: 96,462,249 (GRCm39) V344E probably damaging Het
Ewsr1 C A 11: 5,028,523 (GRCm39) probably benign Het
Faap100 T C 11: 120,265,185 (GRCm39) T564A probably damaging Het
Galc A G 12: 98,179,355 (GRCm39) M518T probably benign Het
Gpatch8 A G 11: 102,370,743 (GRCm39) Y932H unknown Het
Hace1 T A 10: 45,547,230 (GRCm39) M471K probably benign Het
Irf2bpl T A 12: 86,929,551 (GRCm39) D374V probably damaging Het
Lcor A G 19: 41,571,488 (GRCm39) E227G probably damaging Het
Nbea A G 3: 55,554,779 (GRCm39) V2623A probably benign Het
Or4a47 T C 2: 89,675,328 (GRCm39) probably null Het
Or5ac24 A T 16: 59,165,215 (GRCm39) L283Q probably damaging Het
Pex5l T A 3: 33,047,152 (GRCm39) probably null Het
Pira13 T A 7: 3,828,640 (GRCm39) M1L probably null Het
Plxnb1 T A 9: 108,943,480 (GRCm39) S1908T probably damaging Het
Sgo2b T C 8: 64,380,570 (GRCm39) Y754C probably damaging Het
She T A 3: 89,739,231 (GRCm39) C141S probably benign Het
Tex15 T A 8: 34,064,935 (GRCm39) L1455* probably null Het
Tfec T A 6: 16,835,232 (GRCm39) H182L probably benign Het
Tgm6 T C 2: 129,979,359 (GRCm39) V163A probably benign Het
Vmn2r88 G T 14: 51,656,146 (GRCm39) C794F probably damaging Het
Zfp871 T C 17: 32,994,407 (GRCm39) K256R probably damaging Het
Zfp998 A T 13: 66,579,329 (GRCm39) C385S probably damaging Het
Other mutations in Dhx30
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Dhx30 APN 9 109,915,313 (GRCm39) missense probably benign 0.01
IGL01800:Dhx30 APN 9 109,914,581 (GRCm39) missense possibly damaging 0.92
IGL02403:Dhx30 APN 9 109,920,587 (GRCm39) missense probably damaging 1.00
IGL02869:Dhx30 APN 9 109,926,251 (GRCm39) missense probably damaging 1.00
IGL03177:Dhx30 APN 9 109,917,078 (GRCm39) missense possibly damaging 0.75
R0092:Dhx30 UTSW 9 109,914,078 (GRCm39) missense possibly damaging 0.94
R0601:Dhx30 UTSW 9 109,915,782 (GRCm39) splice site probably null
R1667:Dhx30 UTSW 9 109,914,514 (GRCm39) missense possibly damaging 0.48
R1667:Dhx30 UTSW 9 109,914,513 (GRCm39) missense possibly damaging 0.91
R1670:Dhx30 UTSW 9 109,914,341 (GRCm39) missense possibly damaging 0.86
R1728:Dhx30 UTSW 9 109,927,819 (GRCm39) missense probably damaging 0.98
R1729:Dhx30 UTSW 9 109,927,819 (GRCm39) missense probably damaging 0.98
R1795:Dhx30 UTSW 9 109,937,051 (GRCm39) splice site probably null
R1854:Dhx30 UTSW 9 109,917,740 (GRCm39) missense probably damaging 1.00
R2191:Dhx30 UTSW 9 109,915,186 (GRCm39) critical splice donor site probably null
R2219:Dhx30 UTSW 9 109,916,703 (GRCm39) missense probably damaging 1.00
R2220:Dhx30 UTSW 9 109,916,703 (GRCm39) missense probably damaging 1.00
R2267:Dhx30 UTSW 9 109,916,102 (GRCm39) missense probably damaging 1.00
R2374:Dhx30 UTSW 9 109,920,632 (GRCm39) missense probably damaging 0.98
R2568:Dhx30 UTSW 9 109,926,263 (GRCm39) missense probably damaging 0.99
R4022:Dhx30 UTSW 9 109,913,465 (GRCm39) missense possibly damaging 0.90
R4052:Dhx30 UTSW 9 109,929,889 (GRCm39) missense possibly damaging 0.46
R4695:Dhx30 UTSW 9 109,914,356 (GRCm39) missense probably damaging 0.98
R4728:Dhx30 UTSW 9 109,916,718 (GRCm39) missense probably damaging 1.00
R4892:Dhx30 UTSW 9 109,914,924 (GRCm39) splice site probably null
R4911:Dhx30 UTSW 9 109,929,992 (GRCm39) missense probably damaging 1.00
R4937:Dhx30 UTSW 9 109,915,029 (GRCm39) missense probably damaging 1.00
R5135:Dhx30 UTSW 9 109,927,863 (GRCm39) missense probably damaging 1.00
R5359:Dhx30 UTSW 9 109,922,203 (GRCm39) missense probably damaging 0.99
R5462:Dhx30 UTSW 9 109,930,042 (GRCm39) missense probably damaging 0.97
R5504:Dhx30 UTSW 9 109,914,278 (GRCm39) missense probably benign 0.08
R5797:Dhx30 UTSW 9 109,927,888 (GRCm39) missense probably damaging 0.99
R5860:Dhx30 UTSW 9 109,913,645 (GRCm39) missense probably damaging 0.98
R6041:Dhx30 UTSW 9 109,913,666 (GRCm39) missense probably benign 0.09
R6132:Dhx30 UTSW 9 109,914,847 (GRCm39) missense probably damaging 1.00
R6158:Dhx30 UTSW 9 109,916,098 (GRCm39) missense probably damaging 1.00
R6475:Dhx30 UTSW 9 109,914,120 (GRCm39) missense possibly damaging 0.91
R6818:Dhx30 UTSW 9 109,917,099 (GRCm39) missense probably damaging 1.00
R6984:Dhx30 UTSW 9 109,920,485 (GRCm39) critical splice donor site probably null
R7412:Dhx30 UTSW 9 109,921,966 (GRCm39) missense probably benign
R7477:Dhx30 UTSW 9 109,916,208 (GRCm39) missense probably damaging 1.00
R7808:Dhx30 UTSW 9 109,915,270 (GRCm39) missense probably benign 0.00
R7982:Dhx30 UTSW 9 109,914,524 (GRCm39) missense probably damaging 1.00
R8343:Dhx30 UTSW 9 109,914,569 (GRCm39) missense possibly damaging 0.95
R8376:Dhx30 UTSW 9 109,917,707 (GRCm39) missense probably benign 0.15
R8434:Dhx30 UTSW 9 109,929,974 (GRCm39) missense probably benign
R8831:Dhx30 UTSW 9 109,917,319 (GRCm39) missense probably benign 0.01
R8842:Dhx30 UTSW 9 109,914,296 (GRCm39) missense probably benign 0.33
R8971:Dhx30 UTSW 9 109,913,513 (GRCm39) nonsense probably null
R9001:Dhx30 UTSW 9 109,916,623 (GRCm39) missense probably damaging 0.99
R9117:Dhx30 UTSW 9 109,926,164 (GRCm39) missense probably damaging 0.99
R9177:Dhx30 UTSW 9 109,915,750 (GRCm39) missense probably damaging 0.97
R9189:Dhx30 UTSW 9 109,914,494 (GRCm39) nonsense probably null
R9281:Dhx30 UTSW 9 109,929,983 (GRCm39) missense probably benign 0.01
R9289:Dhx30 UTSW 9 109,922,189 (GRCm39) missense probably benign 0.06
R9289:Dhx30 UTSW 9 109,920,603 (GRCm39) missense possibly damaging 0.66
R9424:Dhx30 UTSW 9 109,916,712 (GRCm39) missense probably damaging 1.00
R9576:Dhx30 UTSW 9 109,916,712 (GRCm39) missense probably damaging 1.00
R9599:Dhx30 UTSW 9 109,914,518 (GRCm39) missense possibly damaging 0.75
R9617:Dhx30 UTSW 9 109,926,186 (GRCm39) missense probably damaging 1.00
R9647:Dhx30 UTSW 9 109,922,214 (GRCm39) missense probably damaging 1.00
R9711:Dhx30 UTSW 9 109,914,103 (GRCm39) missense probably benign 0.03
R9715:Dhx30 UTSW 9 109,916,718 (GRCm39) missense probably damaging 1.00
X0027:Dhx30 UTSW 9 109,913,502 (GRCm39) missense possibly damaging 0.87
Z1176:Dhx30 UTSW 9 109,916,033 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGAAAGGGAAGAGTAGCCAGTTTTC -3'
(R):5'- TCACAGAGTTTATTGACTAACCAACCC -3'

Sequencing Primer
(F):5'- GCCAGTTTTCTGTGAGTCAAACCAG -3'
(R):5'- CAGGACTCCTAACTCCATTGAG -3'
Posted On 2015-01-23