Incidental Mutation 'R4931:Dhx9'
ID 500838
Institutional Source Beutler Lab
Gene Symbol Dhx9
Ensembl Gene ENSMUSG00000042699
Gene Name DExH-box helicase 9
Synonyms Ddx9, NDHII, nuclear DNA helicase II, leukophysin, NDH II, RNA helicase, RHA
MMRRC Submission 042532-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4931 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 153331504-153363406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 153348419 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 302 (P302L)
Ref Sequence ENSEMBL: ENSMUSP00000139825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042141] [ENSMUST00000186380] [ENSMUST00000186966] [ENSMUST00000188345]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000042141
AA Change: P303L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: P303L

DomainStartEndE-ValueType
DSRM 4 70 2.23e-17 SMART
low complexity region 80 91 N/A INTRINSIC
low complexity region 93 120 N/A INTRINSIC
DSRM 184 254 3.52e-15 SMART
low complexity region 284 299 N/A INTRINSIC
low complexity region 334 349 N/A INTRINSIC
DEXDc 389 576 1.61e-25 SMART
low complexity region 592 608 N/A INTRINSIC
HELICc 667 772 4.69e-18 SMART
HA2 834 922 1.33e-24 SMART
Pfam:OB_NTP_bind 961 1077 1.6e-18 PFAM
low complexity region 1173 1309 N/A INTRINSIC
low complexity region 1313 1337 N/A INTRINSIC
low complexity region 1339 1384 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186380
AA Change: P302L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: P302L

DomainStartEndE-ValueType
DSRM 4 70 1.3e-19 SMART
low complexity region 80 91 N/A INTRINSIC
low complexity region 93 120 N/A INTRINSIC
DSRM 183 253 2.1e-17 SMART
low complexity region 283 298 N/A INTRINSIC
low complexity region 333 348 N/A INTRINSIC
DEXDc 388 575 6.6e-28 SMART
low complexity region 591 607 N/A INTRINSIC
HELICc 666 771 1.9e-20 SMART
HA2 833 921 9.9e-29 SMART
Pfam:OB_NTP_bind 960 1076 5e-13 PFAM
low complexity region 1172 1308 N/A INTRINSIC
low complexity region 1312 1336 N/A INTRINSIC
low complexity region 1338 1383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000186966
AA Change: P302L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139806
Gene: ENSMUSG00000042699
AA Change: P302L

DomainStartEndE-ValueType
DSRM 4 70 1.3e-19 SMART
low complexity region 80 91 N/A INTRINSIC
low complexity region 93 120 N/A INTRINSIC
DSRM 183 253 2.1e-17 SMART
low complexity region 283 298 N/A INTRINSIC
low complexity region 333 348 N/A INTRINSIC
Blast:DEXDc 349 451 1e-37 BLAST
PDB:3LLM|B 349 456 2e-55 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000188345
AA Change: P303L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
AA Change: P303L

DomainStartEndE-ValueType
DSRM 4 70 1.3e-19 SMART
low complexity region 80 91 N/A INTRINSIC
low complexity region 93 120 N/A INTRINSIC
DSRM 184 254 2.1e-17 SMART
low complexity region 284 299 N/A INTRINSIC
low complexity region 334 349 N/A INTRINSIC
DEXDc 389 576 6.6e-28 SMART
low complexity region 592 608 N/A INTRINSIC
Pfam:Helicase_C 678 735 6.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189516
Predicted Effect probably benign
Transcript: ENSMUST00000190544
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 95% (78/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAH-containing family of RNA helicases. The encoded protein is an enzyme that catalyzes the ATP-dependent unwinding of double-stranded RNA and DNA-RNA complexes. This protein localizes to both the nucleus and the cytoplasm and functions as a transcriptional regulator. This protein may also be involved in the expression and nuclear export of retroviral RNAs. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 11 and 13.[provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygotes die in embryonic stages with massive apoptotic cell death in embryonic ectodermal cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004B18Rik A G 3: 145,643,875 (GRCm39) D21G probably benign Het
4930562C15Rik T C 16: 4,678,910 (GRCm39) L68P possibly damaging Het
Ache A G 5: 137,290,176 (GRCm39) I414V probably benign Het
Acy1 G A 9: 106,310,390 (GRCm39) H308Y probably damaging Het
Aldh1b1 A C 4: 45,803,661 (GRCm39) I400L probably benign Het
Ankrd40 T A 11: 94,225,647 (GRCm39) L226Q probably benign Het
B3gnt9 T C 8: 105,980,876 (GRCm39) T171A probably benign Het
Ccdc33 T C 9: 57,977,134 (GRCm39) Y289C probably damaging Het
Cd209f A T 8: 4,153,688 (GRCm39) I187N probably damaging Het
Cers6 T G 2: 68,935,456 (GRCm39) S319A probably damaging Het
Chrna4 A G 2: 180,670,665 (GRCm39) S364P probably benign Het
Chrnb3 T C 8: 27,884,258 (GRCm39) S317P probably damaging Het
Dapk1 T C 13: 60,908,774 (GRCm39) V1129A probably benign Het
Dnaaf9 A G 2: 130,583,793 (GRCm39) F496L possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Duox2 T C 2: 122,127,236 (GRCm39) N147S probably benign Het
Dytn T G 1: 63,672,837 (GRCm39) E522A probably benign Het
E130114P18Rik T C 4: 97,608,524 (GRCm39) D27G unknown Het
Egf A G 3: 129,505,117 (GRCm39) F118S probably damaging Het
Eif2d T A 1: 131,082,128 (GRCm39) F73L probably damaging Het
Eps8l1 A G 7: 4,474,240 (GRCm39) E237G possibly damaging Het
Espl1 A G 15: 102,214,165 (GRCm39) E664G probably benign Het
Fbrsl1 A T 5: 110,526,895 (GRCm39) S373T possibly damaging Het
Fras1 T A 5: 96,784,699 (GRCm39) F894Y probably benign Het
Gpatch8 T C 11: 102,372,050 (GRCm39) E496G unknown Het
Gucy1a2 A G 9: 3,759,588 (GRCm39) K465E probably damaging Het
Igdcc4 A G 9: 65,031,297 (GRCm39) T459A possibly damaging Het
Itgad A T 7: 127,803,797 (GRCm39) I64F probably damaging Het
Itgb2l T A 16: 96,238,649 (GRCm39) N50I probably damaging Het
Kif13a A G 13: 46,962,531 (GRCm39) I478T probably damaging Het
Krt31 G A 11: 99,940,983 (GRCm39) T109I probably benign Het
Ltbr G T 6: 125,284,437 (GRCm39) probably null Het
Magel2 A G 7: 62,030,372 (GRCm39) D1092G unknown Het
Minar1 T C 9: 89,483,705 (GRCm39) H564R probably benign Het
Mindy3 A T 2: 12,401,024 (GRCm39) N231K probably damaging Het
Mpnd T G 17: 56,319,362 (GRCm39) probably benign Het
Mtus2 C T 5: 148,014,226 (GRCm39) L340F probably benign Het
Nanog G A 6: 122,684,865 (GRCm39) A17T possibly damaging Het
Ndufa9 G T 6: 126,813,283 (GRCm39) A181E probably damaging Het
Or52z14 T G 7: 103,253,581 (GRCm39) L240R probably benign Het
Or7e175 A T 9: 20,048,858 (GRCm39) I149F probably benign Het
Pprc1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 19: 46,059,755 (GRCm39) probably benign Het
Pramel18 T C 4: 101,766,367 (GRCm39) V17A possibly damaging Het
Prkacb T C 3: 146,453,732 (GRCm39) I211V possibly damaging Het
Ptpn14 C G 1: 189,583,474 (GRCm39) L774V probably benign Het
Rad1 T C 15: 10,492,848 (GRCm39) probably benign Het
Rims1 G T 1: 22,573,028 (GRCm39) P391Q probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Sf3b3 C T 8: 111,542,961 (GRCm39) R832Q probably benign Het
Slc12a2 A G 18: 58,068,035 (GRCm39) D975G possibly damaging Het
Slitrk6 A G 14: 110,987,811 (GRCm39) L632P probably damaging Het
Spire2 A G 8: 124,095,523 (GRCm39) D542G possibly damaging Het
Sppl3 A T 5: 115,220,373 (GRCm39) Q95L probably damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Tcl1 G T 12: 105,188,872 (GRCm39) H14N probably damaging Het
Ten1 T C 11: 116,096,555 (GRCm39) F70L probably benign Het
Tnfrsf13b A T 11: 61,031,763 (GRCm39) T35S possibly damaging Het
Tpcn2 G A 7: 144,821,046 (GRCm39) P336L probably benign Het
Trf C A 9: 103,105,247 (GRCm39) D22Y probably damaging Het
Ttyh1 A G 7: 4,136,943 (GRCm39) probably benign Het
Vmn2r103 A T 17: 20,032,031 (GRCm39) I602F probably benign Het
Zfp296 G T 7: 19,313,637 (GRCm39) C164F possibly damaging Het
Zfp352 A G 4: 90,112,541 (GRCm39) Y227C probably damaging Het
Zfp599 A T 9: 22,169,419 (GRCm39) W18R probably damaging Het
Other mutations in Dhx9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Dhx9 APN 1 153,341,494 (GRCm39) missense probably damaging 1.00
IGL01284:Dhx9 APN 1 153,340,644 (GRCm39) missense probably damaging 1.00
IGL01555:Dhx9 APN 1 153,335,312 (GRCm39) missense probably damaging 1.00
IGL01767:Dhx9 APN 1 153,344,614 (GRCm39) splice site probably benign
IGL02938:Dhx9 APN 1 153,340,376 (GRCm39) missense probably benign 0.37
R0001:Dhx9 UTSW 1 153,338,382 (GRCm39) missense probably damaging 1.00
R0046:Dhx9 UTSW 1 153,348,453 (GRCm39) missense probably benign 0.27
R0309:Dhx9 UTSW 1 153,341,441 (GRCm39) missense probably benign 0.00
R0517:Dhx9 UTSW 1 153,354,662 (GRCm39) missense possibly damaging 0.93
R0589:Dhx9 UTSW 1 153,348,037 (GRCm39) missense probably damaging 1.00
R1217:Dhx9 UTSW 1 153,334,109 (GRCm39) missense probably damaging 1.00
R1406:Dhx9 UTSW 1 153,340,684 (GRCm39) missense probably damaging 1.00
R1406:Dhx9 UTSW 1 153,340,684 (GRCm39) missense probably damaging 1.00
R1430:Dhx9 UTSW 1 153,359,493 (GRCm39) missense probably benign 0.44
R1456:Dhx9 UTSW 1 153,341,441 (GRCm39) missense probably benign 0.00
R1460:Dhx9 UTSW 1 153,341,426 (GRCm39) missense probably benign 0.01
R1724:Dhx9 UTSW 1 153,334,234 (GRCm39) missense probably benign 0.00
R1848:Dhx9 UTSW 1 153,341,499 (GRCm39) missense probably damaging 0.99
R1922:Dhx9 UTSW 1 153,336,020 (GRCm39) splice site probably null
R2001:Dhx9 UTSW 1 153,331,857 (GRCm39) nonsense probably null
R3084:Dhx9 UTSW 1 153,341,445 (GRCm39) missense probably benign 0.34
R3085:Dhx9 UTSW 1 153,341,445 (GRCm39) missense probably benign 0.34
R3123:Dhx9 UTSW 1 153,341,452 (GRCm39) missense possibly damaging 0.90
R3730:Dhx9 UTSW 1 153,353,866 (GRCm39) missense probably benign 0.16
R4274:Dhx9 UTSW 1 153,344,672 (GRCm39) missense probably damaging 1.00
R4353:Dhx9 UTSW 1 153,347,535 (GRCm39) missense probably damaging 1.00
R4560:Dhx9 UTSW 1 153,342,903 (GRCm39) missense probably damaging 1.00
R4583:Dhx9 UTSW 1 153,336,049 (GRCm39) missense probably damaging 0.98
R4598:Dhx9 UTSW 1 153,342,797 (GRCm39) frame shift probably null
R4603:Dhx9 UTSW 1 153,342,797 (GRCm39) frame shift probably null
R4889:Dhx9 UTSW 1 153,356,895 (GRCm39) missense probably damaging 1.00
R5411:Dhx9 UTSW 1 153,356,969 (GRCm39) missense probably benign 0.27
R5569:Dhx9 UTSW 1 153,342,838 (GRCm39) missense possibly damaging 0.83
R5635:Dhx9 UTSW 1 153,359,493 (GRCm39) missense probably benign 0.44
R5659:Dhx9 UTSW 1 153,347,481 (GRCm39) missense probably damaging 1.00
R6128:Dhx9 UTSW 1 153,353,835 (GRCm39) missense probably damaging 1.00
R6215:Dhx9 UTSW 1 153,348,209 (GRCm39) missense probably damaging 1.00
R6428:Dhx9 UTSW 1 153,332,324 (GRCm39) unclassified probably benign
R6489:Dhx9 UTSW 1 153,332,389 (GRCm39) unclassified probably benign
R6717:Dhx9 UTSW 1 153,349,210 (GRCm39) splice site probably null
R7098:Dhx9 UTSW 1 153,340,768 (GRCm39) missense probably benign
R7209:Dhx9 UTSW 1 153,340,369 (GRCm39) missense possibly damaging 0.90
R7226:Dhx9 UTSW 1 153,341,423 (GRCm39) missense probably benign 0.00
R7440:Dhx9 UTSW 1 153,356,977 (GRCm39) missense probably benign
R7685:Dhx9 UTSW 1 153,334,152 (GRCm39) missense probably damaging 0.99
R7712:Dhx9 UTSW 1 153,340,747 (GRCm39) missense probably benign 0.07
R8088:Dhx9 UTSW 1 153,338,443 (GRCm39) missense probably benign 0.26
R8371:Dhx9 UTSW 1 153,331,961 (GRCm39) missense unknown
R8397:Dhx9 UTSW 1 153,344,657 (GRCm39) missense probably damaging 1.00
R8502:Dhx9 UTSW 1 153,335,210 (GRCm39) missense probably benign 0.01
R8519:Dhx9 UTSW 1 153,348,922 (GRCm39) missense probably damaging 1.00
R8531:Dhx9 UTSW 1 153,334,182 (GRCm39) missense possibly damaging 0.95
R8842:Dhx9 UTSW 1 153,338,335 (GRCm39) missense possibly damaging 0.91
R9145:Dhx9 UTSW 1 153,336,826 (GRCm39) missense probably damaging 1.00
R9295:Dhx9 UTSW 1 153,340,673 (GRCm39) missense probably damaging 0.98
R9557:Dhx9 UTSW 1 153,333,292 (GRCm39) missense probably benign 0.10
R9661:Dhx9 UTSW 1 153,340,393 (GRCm39) missense probably damaging 1.00
X0066:Dhx9 UTSW 1 153,348,275 (GRCm39) missense probably benign 0.00
Z1177:Dhx9 UTSW 1 153,332,321 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGTTCAAAATGAGCCAATTTCCC -3'
(R):5'- CTCGTGCTTATAGTGGCCATTG -3'

Sequencing Primer
(F):5'- TGAGCCAATTTCCCAATGTTAAG -3'
(R):5'- GAGTGAGTTGTTGATGAAATTCTCAC -3'
Posted On 2017-12-01