Incidental Mutation 'IGL02403:Dhx30'
ID 291981
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02403
Quality Score
Status
Chromosome 9
Chromosomal Location 109913387-109946728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109920587 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 280 (L280P)
Ref Sequence ENSEMBL: ENSMUSP00000143371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062368] [ENSMUST00000111991] [ENSMUST00000165596] [ENSMUST00000196171] [ENSMUST00000196455] [ENSMUST00000198425] [ENSMUST00000197928] [ENSMUST00000199529] [ENSMUST00000200066] [ENSMUST00000198443] [ENSMUST00000199835]
AlphaFold Q99PU8
Predicted Effect probably damaging
Transcript: ENSMUST00000062368
AA Change: L309P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
AA Change: L309P

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 probably damaging
Transcript: ENSMUST00000111991
AA Change: L280P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480
AA Change: L280P

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 damaging
Transcript: ENSMUST00000165596
AA Change: L303P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480
AA Change: L303P

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 probably damaging
Transcript: ENSMUST00000196171
AA Change: L272P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480
AA Change: L272P

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 noncoding transcript
Transcript: ENSMUST00000196182
Predicted Effect probably benign
Transcript: ENSMUST00000196455
SMART Domains Protein: ENSMUSP00000143751
Gene: ENSMUSG00000032480

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 noncoding transcript
Transcript: ENSMUST00000196914
Predicted Effect probably damaging
Transcript: ENSMUST00000198425
AA Change: L303P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480
AA Change: L303P

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 probably damaging
Transcript: ENSMUST00000197928
AA Change: L280P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480
AA Change: L280P

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 damaging
Transcript: ENSMUST00000199529
AA Change: L280P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480
AA Change: L280P

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 damaging
Transcript: ENSMUST00000200066
AA Change: L280P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480
AA Change: L280P

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 noncoding transcript
Transcript: ENSMUST00000200029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198026
Predicted Effect probably benign
Transcript: ENSMUST00000198443
SMART Domains Protein: ENSMUSP00000142836
Gene: ENSMUSG00000032480

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 48 64 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199835
SMART Domains Protein: ENSMUSP00000142636
Gene: ENSMUSG00000032480

DomainStartEndE-ValueType
PDB:2DB2|A 67 171 3e-68 PDB
SCOP:d1di2a_ 76 145 3e-3 SMART
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 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,755,227 (GRCm39) probably null Het
Alk C A 17: 72,208,388 (GRCm39) G944V probably damaging Het
Alox15 T C 11: 70,236,727 (GRCm39) D446G probably damaging Het
Apof A G 10: 128,105,353 (GRCm39) probably null Het
Arhgap28 T G 17: 68,180,154 (GRCm39) D81A possibly damaging Het
Bltp1 T C 3: 37,084,813 (GRCm39) S3922P probably benign Het
Bms1 T C 6: 118,382,185 (GRCm39) E451G possibly damaging Het
C9orf72 A G 4: 35,205,887 (GRCm39) probably benign Het
Capn13 T A 17: 73,658,421 (GRCm39) T216S possibly damaging Het
Ccdc28a A T 10: 18,089,931 (GRCm39) probably benign Het
Cdip1 T C 16: 4,586,676 (GRCm39) T150A probably damaging Het
Chrnb3 T A 8: 27,883,836 (GRCm39) L191Q probably damaging Het
Chst2 G A 9: 95,287,285 (GRCm39) Q354* probably null Het
Cldn11 T C 3: 31,204,345 (GRCm39) V16A probably benign Het
Cyp4f18 A G 8: 72,752,072 (GRCm39) M198T probably damaging Het
Disc1 A G 8: 125,862,258 (GRCm39) probably benign Het
Dnm1l T C 16: 16,154,840 (GRCm39) I172V possibly damaging Het
Edem2 T C 2: 155,550,983 (GRCm39) D328G possibly damaging Het
Fbxo10 G A 4: 45,062,517 (GRCm39) T3M probably benign Het
Fdxacb1 T A 9: 50,682,863 (GRCm39) S275R possibly damaging Het
Gm7275 C A 16: 47,893,991 (GRCm39) noncoding transcript Het
Helz2 A T 2: 180,872,815 (GRCm39) I2468N probably damaging Het
Ift46 C A 9: 44,698,176 (GRCm39) P213Q probably damaging Het
Ift56 A G 6: 38,386,373 (GRCm39) M365V possibly damaging Het
Irf2 G T 8: 47,299,207 (GRCm39) V334F probably damaging Het
Lrp4 T A 2: 91,338,927 (GRCm39) V1786E probably benign Het
Mfsd5 A G 15: 102,188,973 (GRCm39) Y115C probably benign Het
Muc5ac A G 7: 141,357,187 (GRCm39) R1154G possibly damaging Het
Nek4 G T 14: 30,686,008 (GRCm39) E314* probably null Het
Oas2 C T 5: 120,886,815 (GRCm39) G117D possibly damaging Het
Or8j3b A T 2: 86,204,867 (GRCm39) D296E probably benign Het
Pikfyve C T 1: 65,283,663 (GRCm39) H767Y probably damaging Het
Pkhd1 T C 1: 20,632,642 (GRCm39) H591R probably benign Het
Pygl T A 12: 70,241,032 (GRCm39) I672F probably benign Het
Rft1 G T 14: 30,382,278 (GRCm39) probably benign Het
Ripor3 A C 2: 167,831,250 (GRCm39) L517R probably damaging Het
Serpina3b A G 12: 104,096,721 (GRCm39) M1V probably null Het
Sgce C T 6: 4,694,059 (GRCm39) R263Q probably damaging Het
Stard6 A T 18: 70,629,183 (GRCm39) probably null Het
Them4 T C 3: 94,230,978 (GRCm39) F117L probably damaging Het
Tmem214 G A 5: 31,030,090 (GRCm39) A296T probably benign Het
Vmn2r116 G T 17: 23,606,338 (GRCm39) D417Y 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
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
R2881:Dhx30 UTSW 9 109,927,913 (GRCm39) nonsense probably null
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
Posted On 2015-04-16