Incidental Mutation 'R5462:Dhx30'
ID 433070
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 043024-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5462 (G1)
Quality Score 214
Status Not validated
Chromosome 9
Chromosomal Location 109913387-109946728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109930042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 18 (L18P)
Ref Sequence ENSEMBL: ENSMUSP00000142836 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062368] [ENSMUST00000111991] [ENSMUST00000165596] [ENSMUST00000196171] [ENSMUST00000196455] [ENSMUST00000196497] [ENSMUST00000197928] [ENSMUST00000198443] [ENSMUST00000198425] [ENSMUST00000199835] [ENSMUST00000199529] [ENSMUST00000200066] [ENSMUST00000200476]
AlphaFold Q99PU8
Predicted Effect probably damaging
Transcript: ENSMUST00000062368
AA Change: L18P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
AA Change: L18P

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 benign
Transcript: ENSMUST00000111991
SMART Domains Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480

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 benign
Transcript: ENSMUST00000165596
SMART Domains Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480

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 benign
Transcript: ENSMUST00000196171
SMART Domains Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480

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 probably damaging
Transcript: ENSMUST00000196455
AA Change: L22P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143751
Gene: ENSMUSG00000032480
AA Change: L22P

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 benign
Transcript: ENSMUST00000196497
SMART Domains Protein: ENSMUSP00000143529
Gene: ENSMUSG00000032480

DomainStartEndE-ValueType
PDB:2DB2|A 67 101 5e-18 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000197928
SMART Domains Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480

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: ENSMUST00000198443
AA Change: L18P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142836
Gene: ENSMUSG00000032480
AA Change: L18P

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 noncoding transcript
Transcript: ENSMUST00000200029
Predicted Effect probably benign
Transcript: ENSMUST00000198425
SMART Domains Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480

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 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
Predicted Effect probably benign
Transcript: ENSMUST00000199529
SMART Domains Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480

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 benign
Transcript: ENSMUST00000200066
SMART Domains Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480

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 benign
Transcript: ENSMUST00000200476
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
4933412E24Rik A G 15: 59,886,917 (GRCm39) F508L probably benign Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Amz1 A G 5: 140,733,976 (GRCm39) Y184C probably damaging Het
Calm3 A T 7: 16,651,619 (GRCm39) D23E possibly damaging Het
Cep112 T A 11: 108,409,570 (GRCm39) N479K probably damaging Het
Cfap251 T C 5: 123,436,695 (GRCm39) probably null Het
Csmd1 A C 8: 16,011,486 (GRCm39) N2522K probably benign Het
E2f2 A T 4: 135,900,224 (GRCm39) T45S probably benign Het
Grk3 T C 5: 113,117,074 (GRCm39) Y67C probably damaging Het
Htt T A 5: 35,042,851 (GRCm39) C2290* probably null Het
Igsf10 T C 3: 59,233,175 (GRCm39) T1853A probably damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Mast2 A G 4: 116,164,655 (GRCm39) L1587P probably damaging Het
Mdn1 A G 4: 32,720,897 (GRCm39) N2337D probably benign Het
Mettl3 T C 14: 52,537,336 (GRCm39) Q182R probably damaging Het
Mterf1b A G 5: 4,246,541 (GRCm39) S61G probably benign Het
Mycbp2 T C 14: 103,437,562 (GRCm39) Y2100C probably damaging Het
Nt5m T A 11: 59,765,385 (GRCm39) W138R probably damaging Het
Or5g29 A G 2: 85,421,640 (GRCm39) Y252C probably damaging Het
Prex1 A G 2: 166,486,728 (GRCm39) Y114H probably benign Het
Rasa2 A T 9: 96,453,971 (GRCm39) S322T probably damaging Het
Sis A T 3: 72,857,171 (GRCm39) D373E probably damaging Het
Snx29 A T 16: 11,328,876 (GRCm39) M552L possibly damaging Het
Sptbn1 G T 11: 30,050,520 (GRCm39) F2356L possibly damaging Het
Tbc1d10c G T 19: 4,238,052 (GRCm39) Q241K probably benign Het
Vmn1r222 A G 13: 23,417,045 (GRCm39) I56T probably benign Het
Vmn2r111 T C 17: 22,767,238 (GRCm39) Y753C probably damaging Het
Vmn2r37 A G 7: 9,220,973 (GRCm39) W297R probably damaging Het
Zbtb47 G T 9: 121,596,729 (GRCm39) R695L probably damaging Het
Zfp267 C T 3: 36,219,969 (GRCm39) T664I possibly 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
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
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'- AAGGACATCGGAGCCAAATC -3'
(R):5'- GGTATGCATCCTAGCTGTAGC -3'

Sequencing Primer
(F):5'- TCGGAGCCAAATCTCAGCTTC -3'
(R):5'- GTATGCATCCTAGCTGTAGCCTAGC -3'
Posted On 2016-10-06