Incidental Mutation 'R6489:Dhx9'
ID 522602
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 044621-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6489 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 153331504-153363406 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 153332389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000036347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042141] [ENSMUST00000042373] [ENSMUST00000186380]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000042141
AA Change: Y1194C
SMART Domains Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: Y1194C

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: ENSMUST00000042373
SMART Domains Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
CASH 362 522 2.85e-8 SMART
PbH1 479 500 2.3e3 SMART
PbH1 501 523 5.74e1 SMART
PbH1 524 557 2.3e3 SMART
PbH1 560 582 1.56e0 SMART
low complexity region 603 608 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000186380
AA Change: Y1193C
SMART Domains Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: Y1193C

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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.3%
  • 20x: 90.6%
Validation Efficiency 100% (61/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl T C 11: 69,901,145 (GRCm39) T650A probably benign Het
Alkbh7 T A 17: 57,305,979 (GRCm39) S127T probably damaging Het
Ank3 G A 10: 69,827,459 (GRCm39) A565T probably benign Het
App G T 16: 84,853,408 (GRCm39) D223E unknown Het
Arhgef2 C A 3: 88,550,321 (GRCm39) S675R probably damaging Het
Atg14 T C 14: 47,786,480 (GRCm39) D258G probably damaging Het
Calhm5 A T 10: 33,968,502 (GRCm39) W184R probably damaging Het
Cbr1b A T 16: 93,427,286 (GRCm39) probably null Het
Ckap2l T C 2: 129,111,034 (GRCm39) D721G possibly damaging Het
Cog8 T C 8: 107,776,933 (GRCm39) T481A probably benign Het
Colec10 C A 15: 54,325,609 (GRCm39) probably null Het
Cplx3 A T 9: 57,521,009 (GRCm39) probably null Het
Dock1 T C 7: 134,592,270 (GRCm39) M935T probably damaging Het
Dsg4 T A 18: 20,604,420 (GRCm39) N962K possibly damaging Het
Dym T C 18: 75,213,297 (GRCm39) V173A probably benign Het
Exoc3l4 A G 12: 111,395,131 (GRCm39) Y583C probably damaging Het
Flnb G A 14: 7,867,551 (GRCm38) V103M probably damaging Het
Fzd1 T A 5: 4,807,336 (GRCm39) Q82L probably benign Het
Gabrr1 A G 4: 33,162,855 (GRCm39) I474V probably benign Het
Galnt11 G T 5: 25,469,964 (GRCm39) W521L probably damaging Het
Glb1l3 A G 9: 26,738,127 (GRCm39) V420A probably benign Het
H1f7 A T 15: 98,154,888 (GRCm39) L87* probably null Het
Homer2 T C 7: 81,274,026 (GRCm39) T57A probably benign Het
Ihh T A 1: 74,985,670 (GRCm39) T272S probably damaging Het
Il27ra T C 8: 84,758,179 (GRCm39) M524V probably benign Het
Mdp1 C A 14: 55,897,848 (GRCm39) probably benign Het
Med12l A G 3: 59,164,828 (GRCm39) K1436R probably damaging Het
Megf10 C T 18: 57,424,879 (GRCm39) S1006F probably benign Het
Miga1 A T 3: 151,984,645 (GRCm39) I426N probably damaging Het
Mtmr6 C T 14: 60,537,963 (GRCm39) T654I possibly damaging Het
Nbeal1 A G 1: 60,370,101 (GRCm39) S2673G possibly damaging Het
Nup93 T A 8: 95,028,716 (GRCm39) H193Q probably benign Het
Or1e25 T A 11: 73,494,265 (GRCm39) N286K probably damaging Het
Or4f7 A C 2: 111,644,405 (GRCm39) L222W probably damaging Het
Or52ae9 T C 7: 103,389,875 (GRCm39) N191D probably benign Het
Pdcd11 C T 19: 47,098,191 (GRCm39) R826C probably damaging Het
Pde4dip G A 3: 97,662,907 (GRCm39) R521* probably null Het
Phf2 T C 13: 48,979,658 (GRCm39) S158G unknown Het
Pla2g15 A G 8: 106,889,826 (GRCm39) E366G probably benign Het
Plekhm2 A T 4: 141,359,344 (GRCm39) H494Q probably damaging Het
Prpsap2 A T 11: 61,639,890 (GRCm39) M87K probably damaging Het
Rbm19 T G 5: 120,258,195 (GRCm39) S137A probably benign Het
Ryr2 T A 13: 11,848,893 (GRCm39) I363L probably benign Het
Samd9l T C 6: 3,376,896 (GRCm39) T122A probably benign Het
Scn4a G C 11: 106,240,006 (GRCm39) D70E probably benign Het
Slc12a3 T A 8: 95,061,632 (GRCm39) V293D possibly damaging Het
Slc6a7 T C 18: 61,140,615 (GRCm39) Y139C probably damaging Het
Slco2b1 A T 7: 99,339,762 (GRCm39) C9* probably null Het
Slitrk1 A T 14: 109,148,735 (GRCm39) S659T possibly damaging Het
Son T G 16: 91,452,044 (GRCm39) S264A possibly damaging Het
Svep1 C A 4: 58,100,066 (GRCm39) G1326V probably damaging Het
Tcf12 A G 9: 71,922,918 (GRCm39) probably null Het
Ttn A G 2: 76,645,062 (GRCm39) V11185A probably damaging Het
Ubap2 T C 4: 41,203,574 (GRCm39) probably null Het
Utp15 G T 13: 98,387,117 (GRCm39) F434L probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vsnl1 T G 12: 11,382,219 (GRCm39) probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zbtb34 A C 2: 33,301,558 (GRCm39) S328A probably damaging Het
Zdbf2 T C 1: 63,346,637 (GRCm39) I1672T possibly 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
R4931:Dhx9 UTSW 1 153,348,419 (GRCm39) missense probably benign 0.02
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
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'- TTCCCACGGTAAGAGTTGGG -3'
(R):5'- GGGCTGTTTATACCACATGAGTC -3'

Sequencing Primer
(F):5'- CCACGGTAAGAGTTGGGGCTTATAC -3'
(R):5'- ACCACATGAGTCTCATTATTAGGTC -3'
Posted On 2018-06-06