Incidental Mutation 'R1728:Dhx30'
ID 198584
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 039760-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1728 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 109913387-109946728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 109927819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 101 (H101R)
Ref Sequence ENSEMBL: ENSMUSP00000143529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062368] [ENSMUST00000111991] [ENSMUST00000165596] [ENSMUST00000196171] [ENSMUST00000196455] [ENSMUST00000196497] [ENSMUST00000198425] [ENSMUST00000199835] [ENSMUST00000200066] [ENSMUST00000197928] [ENSMUST00000199529] [ENSMUST00000198443] [ENSMUST00000200476]
AlphaFold Q99PU8
Predicted Effect probably damaging
Transcript: ENSMUST00000062368
AA Change: H107R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062622
Gene: ENSMUSG00000032480
AA Change: H107R

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: H78R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107622
Gene: ENSMUSG00000032480
AA Change: H78R

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: H101R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129174
Gene: ENSMUSG00000032480
AA Change: H101R

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: H70R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000143616
Gene: ENSMUSG00000032480
AA Change: H70R

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: H111R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000143751
Gene: ENSMUSG00000032480
AA Change: H111R

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: H101R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143529
Gene: ENSMUSG00000032480
AA Change: H101R

DomainStartEndE-ValueType
PDB:2DB2|A 67 101 5e-18 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000198425
AA Change: H101R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142659
Gene: ENSMUSG00000032480
AA Change: H101R

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: ENSMUST00000199835
AA Change: H101R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000142636
Gene: ENSMUSG00000032480
AA Change: H101R

DomainStartEndE-ValueType
PDB:2DB2|A 67 171 3e-68 PDB
SCOP:d1di2a_ 76 145 3e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000200066
AA Change: H78R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143371
Gene: ENSMUSG00000032480
AA Change: H78R

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: ENSMUST00000197928
AA Change: H78R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142549
Gene: ENSMUSG00000032480
AA Change: H78R

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: ENSMUST00000199529
AA Change: H78R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000142489
Gene: ENSMUSG00000032480
AA Change: H78R

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: ENSMUST00000200476
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.4%
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: 223 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik G A 15: 37,439,844 (GRCm39) probably benign Het
Aadat A G 8: 60,979,746 (GRCm39) T203A probably damaging Het
Abca13 T A 11: 9,199,680 (GRCm39) F104L probably benign Het
Acox1 T A 11: 116,089,109 (GRCm39) probably null Het
Adam34l T C 8: 44,078,620 (GRCm39) N535D probably damaging Het
Adamts17 C T 7: 66,799,704 (GRCm39) R1060* probably null Het
Adgrg6 T C 10: 14,315,526 (GRCm39) T593A probably damaging Het
Ankrd12 G T 17: 66,291,071 (GRCm39) P1454Q probably benign Het
Ap2m1 T A 16: 20,358,088 (GRCm39) N35K probably damaging Het
Aspm A G 1: 139,401,312 (GRCm39) I1111V probably benign Het
Atr G A 9: 95,779,634 (GRCm39) V1331I probably benign Het
Bola1 C T 3: 96,104,426 (GRCm39) G56D probably benign Het
Brsk1 A G 7: 4,707,218 (GRCm39) D257G probably damaging Het
C4bp C G 1: 130,570,725 (GRCm39) V284L probably benign Het
Cacna1s T C 1: 136,046,454 (GRCm39) F1761S probably benign Het
Camsap2 C T 1: 136,209,053 (GRCm39) R802Q probably benign Het
Cbs G T 17: 31,839,923 (GRCm39) A337E probably benign Het
Ccdc186 A C 19: 56,797,652 (GRCm39) H306Q probably benign Het
Ccdc93 T C 1: 121,389,668 (GRCm39) V237A probably benign Het
Ccdc93 C T 1: 121,383,855 (GRCm39) P192L probably benign Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cd55 C A 1: 130,387,370 (GRCm39) A143S probably benign Het
Cdh19 C A 1: 110,821,114 (GRCm39) E541D probably damaging Het
Cdh20 C G 1: 109,993,465 (GRCm39) L307V possibly damaging Het
Cfh C T 1: 140,075,435 (GRCm39) V268I possibly damaging Het
Cfhr2 A G 1: 139,741,180 (GRCm39) M265T probably benign Het
Cfhr2 A C 1: 139,741,197 (GRCm39) N259K probably benign Het
Chi3l1 C T 1: 134,116,267 (GRCm39) A250V probably damaging Het
Chrnb1 C A 11: 69,676,588 (GRCm39) D388Y probably damaging Het
Clcn1 T A 6: 42,276,448 (GRCm39) F360Y possibly damaging Het
Clgn A G 8: 84,149,659 (GRCm39) S387G probably damaging Het
Cntnap5a C T 1: 116,382,873 (GRCm39) T1047I probably benign Het
Cntnap5a C A 1: 116,382,734 (GRCm39) L1001I probably benign Het
Cntnap5a T C 1: 116,382,831 (GRCm39) L1033S probably benign Het
Coil G A 11: 88,864,802 (GRCm39) V10I probably damaging Het
Col4a1 G A 8: 11,262,712 (GRCm39) P1256S possibly damaging Het
Copa T A 1: 171,939,554 (GRCm39) F597Y probably benign Het
Crb1 G A 1: 139,168,876 (GRCm39) P881S probably damaging Het
Crb1 C T 1: 139,170,733 (GRCm39) G825R probably damaging Het
Crb1 C T 1: 139,171,155 (GRCm39) R684H probably benign Het
Crb1 T C 1: 139,162,517 (GRCm39) M1214V probably benign Het
Crb1 A T 1: 139,165,360 (GRCm39) H921Q probably benign Het
Crybg1 T A 10: 43,880,015 (GRCm39) Q391L probably damaging Het
Cspg4 G T 9: 56,805,821 (GRCm39) V2211L probably benign Het
Cxcr4 C T 1: 128,517,014 (GRCm39) V216I probably benign Het
Cyb5r1 C T 1: 134,335,405 (GRCm39) R147W probably damaging Het
Ddx59 T C 1: 136,344,791 (GRCm39) V154A probably benign Het
Dnah11 T A 12: 117,880,666 (GRCm39) D3818V probably damaging Het
Dnah17 C T 11: 117,960,345 (GRCm39) C2572Y possibly damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Dsel G C 1: 111,787,724 (GRCm39) T937S probably benign Het
Dstyk C T 1: 132,384,722 (GRCm39) L739F probably damaging Het
Ehf T G 2: 103,104,251 (GRCm39) T186P possibly damaging Het
En1 A G 1: 120,531,350 (GRCm39) S197G unknown Het
Etnk2 C A 1: 133,293,325 (GRCm39) D89E probably benign Het
Etnk2 G T 1: 133,293,503 (GRCm39) G149W probably damaging Het
Etnk2 C T 1: 133,293,554 (GRCm39) R166* probably null Het
Etnk2 G A 1: 133,293,555 (GRCm39) R166Q probably benign Het
Etnk2 T A 1: 133,304,653 (GRCm39) V292E probably benign Het
Fam187b C T 7: 30,688,445 (GRCm39) Q268* probably null Het
Fam72a C T 1: 131,466,633 (GRCm39) T139M probably benign Het
Fam72a T C 1: 131,458,406 (GRCm39) I56T probably benign Het
Fat3 A C 9: 15,907,611 (GRCm39) V2797G possibly damaging Het
Fcamr A C 1: 130,732,364 (GRCm39) N117T probably benign Het
Fcamr A G 1: 130,739,317 (GRCm39) I206V probably benign Het
Fcamr G A 1: 130,740,366 (GRCm39) G262S probably benign Het
Fcamr A G 1: 130,740,429 (GRCm39) I283V probably benign Het
Fcamr T C 1: 130,740,475 (GRCm39) V298A probably benign Het
Fcamr A G 1: 130,740,546 (GRCm39) M322V probably benign Het
Fcamr C T 1: 130,740,553 (GRCm39) P324L probably benign Het
Fcamr A G 1: 130,742,334 (GRCm39) N574D probably benign Het
Fcamr A G 1: 130,732,306 (GRCm39) R98G probably benign Het
Fcmr T C 1: 130,806,006 (GRCm39) S321P probably benign Het
Fcmr A G 1: 130,803,711 (GRCm39) T172A probably benign Het
Fut10 T A 8: 31,691,418 (GRCm39) S88T probably benign Het
Gabarap C T 11: 69,882,515 (GRCm39) probably benign Het
Gli2 G T 1: 118,929,774 (GRCm39) H44Q probably benign Het
Gli2 C T 1: 118,795,817 (GRCm39) A113T possibly damaging Het
Glrx2 C T 1: 143,615,478 (GRCm39) A27V possibly damaging Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gpr25 G A 1: 136,188,448 (GRCm39) P55L probably benign Het
Gse1 G A 8: 121,294,992 (GRCm39) probably benign Het
Heatr4 T C 12: 84,014,346 (GRCm39) I630M probably benign Het
Hectd4 A T 5: 121,439,902 (GRCm39) Y1134F possibly damaging Het
Igfn1 G A 1: 135,887,666 (GRCm39) P2466L probably damaging Het
Igfn1 C T 1: 135,899,865 (GRCm39) R482Q probably benign Het
Igfn1 T C 1: 135,898,149 (GRCm39) S806G probably benign Het
Igfn1 G A 1: 135,895,937 (GRCm39) A1543V probably benign Het
Igfn1 C T 1: 135,907,653 (GRCm39) A231T probably benign Het
Igfn1 G A 1: 135,910,213 (GRCm39) R124W probably benign Het
Igfn1 T C 1: 135,926,363 (GRCm39) E29G probably benign Het
Igfn1 T C 1: 135,926,421 (GRCm39) I10V unknown Het
Ikbke T C 1: 131,197,560 (GRCm39) S447G probably benign Het
Ikbke C A 1: 131,193,674 (GRCm39) A459S probably benign Het
Ildr1 A T 16: 36,528,698 (GRCm39) T48S possibly damaging Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Ipo9 CTC CTCTTC 1: 135,314,009 (GRCm39) probably benign Het
Itprid1 T C 6: 55,945,526 (GRCm39) F749S probably benign Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Kcnh5 T C 12: 75,184,465 (GRCm39) D86G probably benign Het
Kcnt2 G A 1: 140,282,285 (GRCm39) S90N probably benign Het
Kif14 A G 1: 136,396,713 (GRCm39) K340E probably damaging Het
Kif14 G A 1: 136,406,103 (GRCm39) A556T probably benign Het
Kif14 A G 1: 136,418,070 (GRCm39) S868G probably benign Het
Kif14 C T 1: 136,431,169 (GRCm39) L1189F probably benign Het
Kif14 T C 1: 136,443,699 (GRCm39) F1291L probably benign Het
Kif14 T C 1: 136,453,521 (GRCm39) V1433A probably benign Het
Kif14 A G 1: 136,396,017 (GRCm39) N108D probably benign Het
Kif1b T C 4: 149,272,179 (GRCm39) T1541A probably damaging Het
Kif21b A G 1: 136,087,859 (GRCm39) I983V possibly damaging Het
Kif26a T C 12: 112,143,219 (GRCm39) S1158P possibly damaging Het
Kmt2d A G 15: 98,763,013 (GRCm39) C279R probably damaging Het
Kpna3 T A 14: 61,605,150 (GRCm39) E499V probably benign Het
Krt16 T C 11: 100,138,533 (GRCm39) E205G probably damaging Het
Lad1 C T 1: 135,755,761 (GRCm39) R346C probably damaging Het
Lad1 C T 1: 135,755,119 (GRCm39) P132S possibly damaging Het
Lax1 T C 1: 133,608,307 (GRCm39) N145D probably benign Het
Lax1 G A 1: 133,611,372 (GRCm39) P67S probably damaging Het
Lax1 T C 1: 133,607,716 (GRCm39) R342G probably benign Het
Lgr6 C T 1: 134,914,826 (GRCm39) V641I probably benign Het
Lgr6 G T 1: 134,918,373 (GRCm39) H263N probably benign Het
Lgr6 C T 1: 134,931,214 (GRCm39) S3N probably benign Het
Lmod1 C T 1: 135,291,811 (GRCm39) T222I probably benign Het
Mb21d2 A G 16: 28,647,173 (GRCm39) V267A probably benign Het
Mfrp A G 9: 44,015,884 (GRCm39) T334A possibly damaging Het
Morc1 T A 16: 48,432,660 (GRCm39) D709E probably benign Het
Mrgpra2b A G 7: 47,114,627 (GRCm39) I35T probably benign Het
Mroh3 G C 1: 136,119,882 (GRCm39) Q440E possibly damaging Het
Mybph C T 1: 134,125,218 (GRCm39) R249C probably benign Het
Mycbp2 A T 14: 103,392,614 (GRCm39) C3206S probably damaging Het
Nav1 A T 1: 135,512,465 (GRCm39) D198E possibly damaging Het
Ndufaf7 A T 17: 79,245,058 (GRCm39) K59M probably damaging Het
Necab3 T C 2: 154,388,795 (GRCm39) S208G probably benign Het
Nr5a2 C A 1: 136,879,863 (GRCm39) R35L probably benign Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Optc C G 1: 133,832,908 (GRCm39) S64T probably benign Het
Or2f1 C A 6: 42,721,069 (GRCm39) L33M possibly damaging Het
Or3a1c A G 11: 74,046,802 (GRCm39) D274G probably damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or5m13b T A 2: 85,754,466 (GRCm39) L285I possibly damaging Het
Or8b12i A T 9: 20,082,209 (GRCm39) Y219* probably null Het
Otoa T C 7: 120,724,662 (GRCm39) V447A probably benign Het
Papss1 A G 3: 131,311,728 (GRCm39) N319D probably benign Het
Patj G A 4: 98,320,017 (GRCm39) G428D possibly damaging Het
Pcdhb3 G A 18: 37,434,931 (GRCm39) G299D probably damaging Het
Pcsk4 T C 10: 80,159,404 (GRCm39) D432G probably damaging Het
Pde5a G T 3: 122,541,889 (GRCm39) L126F probably damaging Het
Pigr C T 1: 130,772,259 (GRCm39) A159V possibly damaging Het
Pik3c2b C T 1: 132,994,365 (GRCm39) P110S probably benign Het
Pinx1 A G 14: 64,115,559 (GRCm39) probably null Het
Plec C A 15: 76,061,892 (GRCm39) E2547* probably null Het
Plekha6 C G 1: 133,215,584 (GRCm39) T792S probably benign Het
Ppfia4 G A 1: 134,227,059 (GRCm39) P1159S probably benign Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Prrx1 T A 1: 163,089,536 (GRCm39) N97I probably damaging Het
Ptpn7 A G 1: 135,062,213 (GRCm39) Q53R probably benign Het
Ptprc A G 1: 138,035,575 (GRCm39) V400A probably benign Het
Ptprc C A 1: 138,035,562 (GRCm39) E402D probably benign Het
Ptprc A G 1: 138,035,561 (GRCm39) S405P probably benign Het
Ptprc T G 1: 138,027,414 (GRCm39) N478T probably benign Het
Ptprc T C 1: 138,039,992 (GRCm39) K212E possibly damaging Het
Rab29 A G 1: 131,799,848 (GRCm39) Q141R probably benign Het
Rbsn A T 6: 92,167,000 (GRCm39) L548Q possibly damaging Het
Ren1 C T 1: 133,281,975 (GRCm39) T32I probably benign Het
Ren1 T A 1: 133,281,944 (GRCm39) W22R probably damaging Het
Ren1 C G 1: 133,287,745 (GRCm39) L360V probably benign Het
Ren1 A T 1: 133,287,721 (GRCm39) N352Y probably benign Het
Ren1 A T 1: 133,286,817 (GRCm39) E315D probably benign Het
Ren1 C A 1: 133,286,720 (GRCm39) probably null Het
Ren1 A C 1: 133,284,195 (GRCm39) K187Q probably benign Het
Rnpep C T 1: 135,190,834 (GRCm39) A571T possibly damaging Het
Rnpep G C 1: 135,211,715 (GRCm39) A11G probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Ro60 C T 1: 143,635,752 (GRCm39) V465I probably benign Het
Ryr2 C T 13: 11,602,308 (GRCm39) V4525M possibly damaging Het
Sctr G A 1: 119,990,987 (GRCm39) S440N possibly damaging Het
Sctr T C 1: 119,959,386 (GRCm39) F110L probably benign Het
Serpinb10 C T 1: 107,466,203 (GRCm39) S63F probably damaging Het
Serpinb2 G A 1: 107,443,365 (GRCm39) A55T probably damaging Het
Serpinb2 A C 1: 107,452,273 (GRCm39) S284R probably benign Het
Serpinb2 C T 1: 107,451,624 (GRCm39) T259I probably benign Het
Serpinb2 C T 1: 107,451,620 (GRCm39) H258Y probably benign Het
Serpinb2 C A 1: 107,451,564 (GRCm39) A239E probably benign Het
Serpinb8 A G 1: 107,525,257 (GRCm39) S20G probably benign Het
Serpinb8 A C 1: 107,534,734 (GRCm39) L268F probably benign Het
Serpinb8 G A 1: 107,526,684 (GRCm39) A75T probably benign Het
Sis A T 3: 72,872,978 (GRCm39) C53* probably null Het
Slc13a5 C T 11: 72,157,285 (GRCm39) probably null Het
Slc26a9 C T 1: 131,691,608 (GRCm39) A617V probably benign Het
Slc26a9 C A 1: 131,693,750 (GRCm39) R747S probably benign Het
Slc9a8 T C 2: 167,266,065 (GRCm39) F14S probably benign Het
Spock3 T C 8: 63,802,011 (GRCm39) L330P probably damaging Het
Stab2 T G 10: 86,773,903 (GRCm39) R809S probably benign Het
Steap3 T C 1: 120,155,480 (GRCm39) N493S probably benign Het
Steap3 G A 1: 120,162,108 (GRCm39) A350V probably benign Het
Tecta G A 9: 42,303,218 (GRCm39) T138I probably benign Het
Thsd7b G C 1: 129,605,920 (GRCm39) A554P probably benign Het
Thsd7b A C 1: 130,044,368 (GRCm39) Q1116P probably benign Het
Thsd7b C T 1: 129,556,628 (GRCm39) T328I probably damaging Het
Thsd7b T A 1: 129,595,674 (GRCm39) F498Y probably benign Het
Tnnt2 C T 1: 135,773,244 (GRCm39) probably benign Het
Traf7 A G 17: 24,731,353 (GRCm39) F228L probably damaging Het
Trhr A G 15: 44,060,549 (GRCm39) E23G probably damaging Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Tubgcp2 T C 7: 139,577,968 (GRCm39) T779A probably benign Het
Tusc2 A T 9: 107,441,830 (GRCm39) I68F probably damaging Het
Ube2t C T 1: 134,899,905 (GRCm39) A149V probably benign Het
Upf2 A T 2: 6,032,261 (GRCm39) S191C probably damaging Het
Usp24 A G 4: 106,217,618 (GRCm39) N447S possibly damaging Het
Usp42 T C 5: 143,700,381 (GRCm39) D1214G probably damaging Het
Vcam1 T A 3: 115,908,164 (GRCm39) I633L probably benign Het
Vmn2r73 T C 7: 85,507,086 (GRCm39) Y742C probably damaging Het
Vmn2r81 C A 10: 79,106,489 (GRCm39) T489K probably benign Het
Ypel1 C G 16: 16,907,283 (GRCm39) probably benign Het
Zan C A 5: 137,413,280 (GRCm39) probably benign Het
Zc3h11a C T 1: 133,552,359 (GRCm39) V583I probably benign Het
Zc3h11a G A 1: 133,549,892 (GRCm39) P695S probably benign Het
Zfp616 A C 11: 73,976,597 (GRCm39) K955N probably damaging Het
Zfyve9 A C 4: 108,575,698 (GRCm39) V461G possibly damaging Het
Zp3r A G 1: 130,524,551 (GRCm39) L164P probably benign Het
Zp3r C A 1: 130,547,151 (GRCm39) E8D 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
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
Predicted Primers PCR Primer
(F):5'- TGCACAGTGGCACACATCTGTAAG -3'
(R):5'- CAACCCAGGACTCCTAACTCCATTGA -3'

Sequencing Primer
(F):5'- caggaggcagaggcaag -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2014-05-23