Incidental Mutation 'R4937:Dhx30'
ID 380487
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4937 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 109913387-109946728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109915029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 884 (L884P)
Ref Sequence ENSEMBL: ENSMUSP00000062622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035055] [ENSMUST00000062368] [ENSMUST00000062368] [ENSMUST00000111991] [ENSMUST00000111991] [ENSMUST00000163979] [ENSMUST00000164930] [ENSMUST00000165596] [ENSMUST00000165596] [ENSMUST00000196171] [ENSMUST00000196171] [ENSMUST00000197928] [ENSMUST00000197928] [ENSMUST00000198425] [ENSMUST00000198425] [ENSMUST00000199498] [ENSMUST00000199161] [ENSMUST00000199461] [ENSMUST00000165876] [ENSMUST00000198511] [ENSMUST00000199529] [ENSMUST00000199529] [ENSMUST00000200066] [ENSMUST00000200066] [ENSMUST00000199693] [ENSMUST00000199548]
AlphaFold Q99PU8
Predicted Effect probably benign
Transcript: ENSMUST00000035055
SMART Domains Protein: ENSMUSP00000035055
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 254 265 N/A INTRINSIC
internal_repeat_1 266 379 4.96e-7 PROSPERO
low complexity region 401 420 N/A INTRINSIC
internal_repeat_1 439 550 4.96e-7 PROSPERO
low complexity region 659 674 N/A INTRINSIC
low complexity region 720 742 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 879 889 N/A INTRINSIC
Pfam:Tubulin-binding 903 926 2e-12 PFAM
Pfam:Tubulin-binding 965 995 4.9e-18 PFAM
Pfam:Tubulin-binding 996 1026 7.4e-18 PFAM
Pfam:Tubulin-binding 1027 1058 4.4e-15 PFAM
low complexity region 1093 1108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000062368
AA Change: L884P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
AA Change: L884P

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: ENSMUST00000062368
AA Change: L884P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
AA Change: L884P

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: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480
AA Change: L855P

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: ENSMUST00000111991
AA Change: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480
AA Change: L855P

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: ENSMUST00000163979
SMART Domains Protein: ENSMUSP00000129362
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 9 17 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 365 376 N/A INTRINSIC
low complexity region 506 521 N/A INTRINSIC
low complexity region 567 589 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
low complexity region 726 736 N/A INTRINSIC
Pfam:Tubulin-binding 743 773 5.8e-16 PFAM
Pfam:Tubulin-binding 774 804 2.2e-18 PFAM
Pfam:Tubulin-binding 805 836 1.6e-11 PFAM
low complexity region 871 886 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164930
SMART Domains Protein: ENSMUSP00000131285
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 9 17 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 365 376 N/A INTRINSIC
low complexity region 506 521 N/A INTRINSIC
low complexity region 567 589 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
low complexity region 726 736 N/A INTRINSIC
Pfam:Tubulin-binding 743 773 6e-16 PFAM
Pfam:Tubulin-binding 774 804 4.5e-19 PFAM
Pfam:Tubulin-binding 805 835 2.3e-18 PFAM
Pfam:Tubulin-binding 836 867 1.6e-11 PFAM
low complexity region 902 917 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165596
AA Change: L878P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480
AA Change: L878P

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: ENSMUST00000165596
AA Change: L878P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480
AA Change: L878P

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: L847P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480
AA Change: L847P

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: ENSMUST00000196171
AA Change: L847P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480
AA Change: L847P

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: ENSMUST00000197928
AA Change: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480
AA Change: L855P

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: ENSMUST00000197928
AA Change: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480
AA Change: L855P

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: ENSMUST00000198026
Predicted Effect probably damaging
Transcript: ENSMUST00000198425
AA Change: L878P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480
AA Change: L878P

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: ENSMUST00000198425
AA Change: L878P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480
AA Change: L878P

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 noncoding transcript
Transcript: ENSMUST00000196182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196914
Predicted Effect probably benign
Transcript: ENSMUST00000199498
SMART Domains Protein: ENSMUSP00000142439
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 9 17 N/A INTRINSIC
low complexity region 324 341 N/A INTRINSIC
low complexity region 365 376 N/A INTRINSIC
low complexity region 506 521 N/A INTRINSIC
low complexity region 567 589 N/A INTRINSIC
low complexity region 607 622 N/A INTRINSIC
low complexity region 726 736 N/A INTRINSIC
Pfam:Tubulin-binding 743 773 5.8e-16 PFAM
Pfam:Tubulin-binding 774 804 2.2e-18 PFAM
Pfam:Tubulin-binding 805 836 1.6e-11 PFAM
low complexity region 871 886 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199332
Predicted Effect probably benign
Transcript: ENSMUST00000199161
SMART Domains Protein: ENSMUSP00000143205
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
Pfam:Tubulin-binding 16 46 6.7e-14 PFAM
Pfam:Tubulin-binding 47 77 4.9e-17 PFAM
Pfam:Tubulin-binding 78 108 2.5e-16 PFAM
Pfam:Tubulin-binding 109 140 1.7e-9 PFAM
low complexity region 176 191 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199461
SMART Domains Protein: ENSMUSP00000143296
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
Pfam:Tubulin-binding 116 146 1e-13 PFAM
Pfam:Tubulin-binding 147 177 3.8e-16 PFAM
Pfam:Tubulin-binding 178 209 2.6e-9 PFAM
low complexity region 244 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165876
SMART Domains Protein: ENSMUSP00000132662
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 254 265 N/A INTRINSIC
internal_repeat_1 266 379 4.95e-7 PROSPERO
low complexity region 401 420 N/A INTRINSIC
internal_repeat_1 439 550 4.95e-7 PROSPERO
low complexity region 659 674 N/A INTRINSIC
low complexity region 720 742 N/A INTRINSIC
low complexity region 760 775 N/A INTRINSIC
low complexity region 879 889 N/A INTRINSIC
Pfam:Tubulin-binding 896 926 8.5e-16 PFAM
Pfam:Tubulin-binding 965 995 6.4e-19 PFAM
Pfam:Tubulin-binding 996 1026 3.3e-18 PFAM
Pfam:Tubulin-binding 1027 1058 2.3e-11 PFAM
low complexity region 1093 1108 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198511
SMART Domains Protein: ENSMUSP00000142558
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:Tubulin-binding 24 54 7.3e-14 PFAM
Pfam:Tubulin-binding 55 85 5.3e-17 PFAM
Pfam:Tubulin-binding 86 116 2.8e-16 PFAM
Pfam:Tubulin-binding 117 148 1.9e-9 PFAM
low complexity region 183 198 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000199529
AA Change: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480
AA Change: L855P

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: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480
AA Change: L855P

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: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480
AA Change: L855P

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: L855P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480
AA Change: L855P

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 probably benign
Transcript: ENSMUST00000199693
Predicted Effect probably benign
Transcript: ENSMUST00000200593
Predicted Effect probably benign
Transcript: ENSMUST00000199548
SMART Domains Protein: ENSMUSP00000143408
Gene: ENSMUSG00000032479

DomainStartEndE-ValueType
low complexity region 99 109 N/A INTRINSIC
Pfam:Tubulin-binding 116 146 1.1e-13 PFAM
Pfam:Tubulin-binding 147 177 7.9e-17 PFAM
Pfam:Tubulin-binding 178 208 4.1e-16 PFAM
Pfam:Tubulin-binding 209 240 2.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199985
Predicted Effect probably benign
Transcript: ENSMUST00000200480
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.3%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,884,067 (GRCm39) F597S probably benign Het
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Abca16 G T 7: 120,126,309 (GRCm39) C1155F probably damaging Het
Adam26a T C 8: 44,021,918 (GRCm39) D524G probably damaging Het
Adamts20 G C 15: 94,277,656 (GRCm39) H269D probably benign Het
Akap9 T A 5: 4,100,145 (GRCm39) probably null Het
Akt3 T C 1: 176,877,693 (GRCm39) I358M possibly damaging Het
Aldh9a1 G T 1: 167,189,376 (GRCm39) A375S probably damaging Het
Alg2 A G 4: 47,473,974 (GRCm39) S105P probably benign Het
Amph A G 13: 19,288,515 (GRCm39) T335A probably damaging Het
Ank2 C T 3: 126,756,050 (GRCm39) V1056M probably damaging Het
Apoh A G 11: 108,298,204 (GRCm39) D168G probably benign Het
Arfgef3 C T 10: 18,465,454 (GRCm39) A2130T probably damaging Het
Arhgap30 A G 1: 171,230,897 (GRCm39) D218G probably benign Het
Ascc3 C T 10: 50,699,894 (GRCm39) P1906S probably damaging Het
Atp11b T G 3: 35,861,157 (GRCm39) probably null Het
B4galnt2 A G 11: 95,759,255 (GRCm39) V343A probably damaging Het
Barhl1 T C 2: 28,799,785 (GRCm39) Y280C probably damaging Het
Bcar1 A T 8: 112,447,669 (GRCm39) Y103N probably damaging Het
Bid A G 6: 120,872,707 (GRCm39) I150T probably benign Het
Ccdc171 T C 4: 83,467,876 (GRCm39) S74P probably damaging Het
Ccni A T 5: 93,336,113 (GRCm39) probably null Het
Cct8l1 A G 5: 25,721,891 (GRCm39) E202G probably benign Het
Cd200r3 A G 16: 44,774,622 (GRCm39) K212E probably benign Het
Cdh19 A G 1: 110,817,694 (GRCm39) S683P probably damaging Het
Ces2b A T 8: 105,559,413 (GRCm39) H93L probably benign Het
Cimip2b T A 4: 43,427,514 (GRCm39) Q270L possibly damaging Het
Clec4a1 G A 6: 122,907,654 (GRCm39) C114Y probably damaging Het
Dcc G T 18: 71,675,320 (GRCm39) S636* probably null Het
Dcdc2c T C 12: 28,580,472 (GRCm39) D187G possibly damaging Het
Dgkb G T 12: 38,164,657 (GRCm39) E150* probably null Het
Dmwd T G 7: 18,815,228 (GRCm39) probably null Het
Dnah17 T A 11: 117,932,980 (GRCm39) N3593Y probably damaging Het
Dnm2 G A 9: 21,392,633 (GRCm39) S447N probably benign Het
Elk4 G A 1: 131,945,419 (GRCm39) G99D probably damaging Het
Entpd1 A T 19: 40,727,965 (GRCm39) probably benign Het
Fam114a1 T A 5: 65,137,070 (GRCm39) D4E probably damaging Het
Fbln2 A G 6: 91,241,681 (GRCm39) D754G probably damaging Het
Fhip2a T C 19: 57,367,069 (GRCm39) V204A probably benign Het
Foxred2 T C 15: 77,840,035 (GRCm39) N85S probably damaging Het
Fut9 A G 4: 25,799,591 (GRCm39) probably benign Het
Gm1818 G A 12: 48,606,607 (GRCm39) noncoding transcript Het
Gm4894 C A 9: 49,190,000 (GRCm39) Q92K unknown Het
Gpx2 T C 12: 76,839,574 (GRCm39) I141M probably benign Het
Gusb T C 5: 130,024,326 (GRCm39) T476A probably damaging Het
Hmmr G A 11: 40,612,667 (GRCm39) T180I possibly damaging Het
Itgbl1 T C 14: 124,210,780 (GRCm39) Y493H probably benign Het
Klhdc9 G T 1: 171,187,951 (GRCm39) C93* probably null Het
Ldaf1 T C 7: 119,715,535 (GRCm39) S120P probably damaging Het
Lpar3 A G 3: 145,990,506 (GRCm39) K275E probably damaging Het
Lrp1b A G 2: 40,692,897 (GRCm39) probably null Het
Lrrc63 C T 14: 75,322,389 (GRCm39) G572S probably damaging Het
Mapk11 A T 15: 89,030,685 (GRCm39) D98E probably benign Het
Mgat4f T A 1: 134,317,714 (GRCm39) M162K probably benign Het
Net1 G A 13: 3,934,905 (GRCm39) R374W probably damaging Het
Nlrp4g T A 9: 124,354,005 (GRCm38) noncoding transcript Het
Nrap T A 19: 56,335,652 (GRCm39) Y923F probably damaging Het
Or13a20 T A 7: 140,232,534 (GRCm39) M214K probably benign Het
Or4c108 T A 2: 88,803,834 (GRCm39) I134F probably damaging Het
Or6c215 A T 10: 129,637,932 (GRCm39) V154E probably benign Het
Plxnc1 A G 10: 94,677,335 (GRCm39) V964A probably damaging Het
Pmfbp1 A G 8: 110,262,498 (GRCm39) I731V probably benign Het
Polq T A 16: 36,848,274 (GRCm39) S294T probably benign Het
Pomgnt2 T C 9: 121,811,620 (GRCm39) D387G probably benign Het
Pramel25 T C 4: 143,520,407 (GRCm39) V53A possibly damaging Het
Prmt2 G A 10: 76,056,842 (GRCm39) T227I probably damaging Het
Psmd1 T A 1: 86,010,947 (GRCm39) F341I probably damaging Het
Ptpn23 T C 9: 110,221,806 (GRCm39) M127V probably benign Het
Ptprc A G 1: 138,017,238 (GRCm39) F483L probably damaging Het
Rab35 A C 5: 115,778,147 (GRCm39) I38L probably damaging Het
Rapgef6 A G 11: 54,548,143 (GRCm39) T486A probably damaging Het
Rgl3 A T 9: 21,899,004 (GRCm39) C68* probably null Het
Rilpl1 T C 5: 124,653,594 (GRCm39) E189G possibly damaging Het
Rnf217 T C 10: 31,393,520 (GRCm39) I354V probably benign Het
Rspo3 T C 10: 29,382,524 (GRCm39) D50G probably damaging Het
Sbno1 A G 5: 124,512,672 (GRCm39) S1366P possibly damaging Het
Sema3c A G 5: 17,899,684 (GRCm39) D392G probably benign Het
Serpinb9e A T 13: 33,436,935 (GRCm39) Y85F probably benign Het
Shprh C T 10: 11,032,863 (GRCm39) T283I probably benign Het
Sipa1l1 T C 12: 82,388,103 (GRCm39) S110P probably benign Het
Slc16a12 T A 19: 34,652,643 (GRCm39) I168F probably damaging Het
Slc23a3 A G 1: 75,109,268 (GRCm39) S221P probably damaging Het
Slc35b3 A T 13: 39,116,887 (GRCm39) I366K possibly damaging Het
Slc44a5 T C 3: 153,949,252 (GRCm39) probably null Het
Slc5a12 A T 2: 110,450,753 (GRCm39) D316V probably damaging Het
Ssr3 A G 3: 65,299,874 (GRCm39) S29P probably damaging Het
Taf2 G A 15: 54,890,619 (GRCm39) Q1055* probably null Het
Them6 A T 15: 74,593,367 (GRCm39) D75V probably damaging Het
Tom1l2 A G 11: 60,149,744 (GRCm39) S239P probably damaging Het
Tspear A G 10: 77,710,877 (GRCm39) T500A probably damaging Het
Tubgcp6 G A 15: 88,985,752 (GRCm39) A1487V probably damaging Het
Uba7 G A 9: 107,856,190 (GRCm39) V522I possibly damaging Het
Virma C A 4: 11,521,147 (GRCm39) C901* probably null Het
Vmn1r172 A T 7: 23,359,312 (GRCm39) I66F possibly damaging Het
Vmn2r82 A T 10: 79,215,010 (GRCm39) Y331F probably benign Het
Wdr55 G A 18: 36,895,451 (GRCm39) V143I probably benign Het
Zbtb49 A T 5: 38,371,307 (GRCm39) D191E possibly damaging Het
Zfhx4 A G 3: 5,307,071 (GRCm39) H99R probably damaging Het
Zfp1005 C T 2: 150,110,680 (GRCm39) H457Y unknown Het
Zfp560 C T 9: 20,259,263 (GRCm39) C533Y probably damaging Het
Zfp646 C T 7: 127,478,354 (GRCm39) A177V probably benign Het
Zfp653 C T 9: 21,967,074 (GRCm39) E604K 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
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
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'- AAGATGGCAGCCAACACTATGG -3'
(R):5'- GCACACCTCTTGAGAACCTG -3'

Sequencing Primer
(F):5'- AACACTATGGCCTTGGCCAGTC -3'
(R):5'- CTTGAGAACCTGGTGCTGCAAG -3'
Posted On 2016-04-15