Incidental Mutation 'R7712:Dhx9'
ID 594656
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 045770-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 153331504-153363406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153340747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 631 (N631I)
Ref Sequence ENSEMBL: ENSMUSP00000139827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042141] [ENSMUST00000186380] [ENSMUST00000186966] [ENSMUST00000188345]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000042141
AA Change: N631I

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: N631I

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: N630I

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: N630I

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
SMART Domains Protein: ENSMUSP00000139806
Gene: ENSMUSG00000042699

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: N631I

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
AA Change: N631I

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 probably benign
Transcript: ENSMUST00000190544
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A C 5: 114,303,799 (GRCm39) D74A probably benign Het
Alox15 T C 11: 70,241,079 (GRCm39) probably null Het
Ano5 A G 7: 51,222,805 (GRCm39) T455A probably benign Het
Ano5 T G 7: 51,240,403 (GRCm39) I827S probably damaging Het
Arid1a G A 4: 133,479,922 (GRCm39) A334V probably benign Het
Atp13a4 A G 16: 29,278,305 (GRCm39) C298R Het
Atp4a T A 7: 30,414,978 (GRCm39) S256T probably damaging Het
Atp6v1c1 G A 15: 38,687,049 (GRCm39) V215I probably benign Het
Bbs9 T A 9: 22,582,109 (GRCm39) F600L probably benign Het
Bmp8b A T 4: 123,018,257 (GRCm39) Y376F possibly damaging Het
Cacna2d1 A T 5: 16,567,347 (GRCm39) D986V probably damaging Het
Ccdc162 A G 10: 41,503,223 (GRCm39) F973S possibly damaging Het
Ccdc177 G A 12: 80,804,712 (GRCm39) Q521* probably null Het
Cd209b T A 8: 3,973,299 (GRCm39) E158D possibly damaging Het
Cdk14 G A 5: 5,430,061 (GRCm39) T22I possibly damaging Het
Chl1 A T 6: 103,688,063 (GRCm39) I968F possibly damaging Het
Cnot7 T C 8: 40,947,122 (GRCm39) Y255C probably damaging Het
Col4a2 T A 8: 11,475,376 (GRCm39) L600H probably benign Het
Cpne7 C A 8: 123,850,920 (GRCm39) L129M probably damaging Het
Cpxm2 G T 7: 131,756,107 (GRCm39) P79Q possibly damaging Het
Dmxl1 T C 18: 50,026,528 (GRCm39) S1879P probably damaging Het
Dnhd1 T A 7: 105,300,831 (GRCm39) F63I probably benign Het
Dok7 A G 5: 35,223,866 (GRCm39) N98S probably damaging Het
Fgd2 A G 17: 29,595,886 (GRCm39) T515A probably benign Het
Fmo1 T C 1: 162,663,704 (GRCm39) D275G probably benign Het
Gm5796 A G 14: 15,379,960 (GRCm39) Y90C probably damaging Het
H60b C A 10: 22,161,637 (GRCm39) H42N possibly damaging Het
Hipk2 A G 6: 38,680,569 (GRCm39) S924P probably benign Het
Hpf1 C A 8: 61,358,613 (GRCm39) S27* probably null Het
Idua T G 5: 108,829,388 (GRCm39) D443E probably benign Het
Lamc2 C T 1: 153,009,357 (GRCm39) G816D possibly damaging Het
Lgi3 T A 14: 70,768,551 (GRCm39) V16E unknown Het
Lpar1 T A 4: 58,486,795 (GRCm39) M159L probably benign Het
Magi2 A G 5: 20,755,280 (GRCm39) D618G possibly damaging Het
Man2b2 C G 5: 36,967,658 (GRCm39) Q903H probably benign Het
Marchf7 A T 2: 60,065,334 (GRCm39) K537* probably null Het
Mcoln1 T C 8: 3,555,873 (GRCm39) F56S probably damaging Het
Myh7 C G 14: 55,226,258 (GRCm39) D461H probably damaging Het
Myo1b A T 1: 51,832,836 (GRCm39) M383K probably damaging Het
Or12k7 A T 2: 36,958,916 (GRCm39) T200S probably damaging Het
Or1f19 T C 16: 3,410,295 (GRCm39) F12L probably damaging Het
Or8a1b T C 9: 37,623,429 (GRCm39) I49V probably damaging Het
Pars2 T A 4: 106,511,276 (GRCm39) Y353N probably damaging Het
Pcdha8 A C 18: 37,125,737 (GRCm39) D73A possibly damaging Het
Pcdhga8 C T 18: 37,860,102 (GRCm39) T386M possibly damaging Het
Pdzd2 G T 15: 12,407,422 (GRCm39) T346N probably damaging Het
Pik3c2b A G 1: 133,013,349 (GRCm39) Q781R probably damaging Het
Pp2d1 T A 17: 53,815,318 (GRCm39) T469S possibly damaging Het
Sectm1a G A 11: 120,959,631 (GRCm39) L166F probably damaging Het
Sgms1 T A 19: 32,120,169 (GRCm39) M246L probably benign Het
Shroom3 G A 5: 93,098,806 (GRCm39) G1429S probably benign Het
Snx17 T A 5: 31,352,804 (GRCm39) F101Y probably damaging Het
Sowahb C T 5: 93,191,240 (GRCm39) S493N probably benign Het
Spc25 T A 2: 69,036,481 (GRCm39) R7S unknown Het
Sult2b1 A G 7: 45,379,620 (GRCm39) I308T probably benign Het
Tkt A G 14: 30,280,763 (GRCm39) N65D probably benign Het
Ttc5 A T 14: 51,010,769 (GRCm39) S221T probably benign Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Wipf1 A C 2: 73,274,805 (GRCm39) S55R probably damaging Het
Zdbf2 T C 1: 63,344,530 (GRCm39) S970P possibly damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp362 A T 4: 128,671,203 (GRCm39) H313Q probably benign Het
Zfy2 T A Y: 2,121,420 (GRCm39) I158F probably benign 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
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
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'- ACCGGTGACTTCCTATGAAACAC -3'
(R):5'- CAGCATATGACTGTCACTTGTG -3'

Sequencing Primer
(F):5'- CCTATGAAACACAAAGGTTAAGGAC -3'
(R):5'- GACTGTCACTTGTGTAGAAAAAGAC -3'
Posted On 2019-11-12