Incidental Mutation 'R7226:Dhx9'
ID 562132
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 045298-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7226 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 153331504-153363406 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153341423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 608 (D608E)
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 probably benign
Transcript: ENSMUST00000042141
AA Change: D608E

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: D608E

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: D607E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: D607E

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: D608E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
AA Change: D608E

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025B11Rik C T 15: 77,443,189 (GRCm39) V17I unknown Het
Acad8 T A 9: 26,889,726 (GRCm39) K323* probably null Het
Adam18 A T 8: 25,137,824 (GRCm39) C339S probably damaging Het
Anxa7 A G 14: 20,510,263 (GRCm39) F396L probably damaging Het
Ap2m1 T A 16: 20,358,201 (GRCm39) V73D probably damaging Het
Asic2 A T 11: 80,862,340 (GRCm39) I270N probably damaging Het
Atrn T G 2: 130,828,664 (GRCm39) C1070G probably damaging Het
Bag6 A G 17: 35,361,921 (GRCm39) N517S unknown Het
Bhmt1b A G 18: 87,775,590 (GRCm39) D371G possibly damaging Het
Bltp3b A T 10: 89,644,503 (GRCm39) Q1181L probably benign Het
Cavin1 A C 11: 100,861,284 (GRCm39) D3E probably benign Het
Cc2d2b T C 19: 40,779,751 (GRCm39) L571P unknown Het
Ccbe1 A T 18: 66,216,199 (GRCm39) C175S probably damaging Het
Cd19 A G 7: 126,013,995 (GRCm39) L5P unknown Het
Cd46 A G 1: 194,724,314 (GRCm39) S362P possibly damaging Het
Celf5 A G 10: 81,303,863 (GRCm39) S198P probably damaging Het
Cep170b A G 12: 112,704,359 (GRCm39) R706G possibly damaging Het
Chd3 G T 11: 69,260,037 (GRCm39) R61S unknown Het
Cpsf6 A C 10: 117,197,727 (GRCm39) W253G unknown Het
Cyp27a1 G A 1: 74,776,507 (GRCm39) G481D probably damaging Het
Ddr1 C T 17: 36,002,039 (GRCm39) D218N possibly damaging Het
Dhx34 A T 7: 15,932,801 (GRCm39) V1046D probably damaging Het
Dnajc6 C A 4: 101,496,569 (GRCm39) A912E probably damaging Het
Ehmt1 T C 2: 24,694,794 (GRCm39) D1051G probably damaging Het
Fam217b C A 2: 178,062,996 (GRCm39) A320E probably benign Het
Farsa T A 8: 85,590,689 (GRCm39) I169N probably benign Het
Fbn2 A G 18: 58,170,142 (GRCm39) C2210R probably damaging Het
Fbxo3 T A 2: 103,880,642 (GRCm39) S251T probably benign Het
Fer1l6 C T 15: 58,462,384 (GRCm39) T813I probably benign Het
Ftl1-ps1 A T 13: 74,555,114 (GRCm39) E131V probably damaging Het
Gins3 T A 8: 96,364,499 (GRCm39) I83N probably damaging Het
Gja3 T C 14: 57,273,350 (GRCm39) T341A probably benign Het
Gja5 A G 3: 96,958,174 (GRCm39) Y77C probably damaging Het
Gm7247 A G 14: 51,602,808 (GRCm39) K48R probably damaging Het
Gsx2 C A 5: 75,236,621 (GRCm39) S67* probably null Het
H2-Q5 T A 17: 35,616,089 (GRCm39) L217Q Het
Impg2 T A 16: 56,087,467 (GRCm39) C1095* probably null Het
Itga7 G T 10: 128,776,801 (GRCm39) W222L probably damaging Het
Kdm2b T A 5: 123,059,512 (GRCm39) D530V possibly damaging Het
Klhdc8a A T 1: 132,230,344 (GRCm39) D153V probably damaging Het
Lin28a C T 4: 133,733,619 (GRCm39) G143S probably damaging Het
Memo1 A G 17: 74,509,338 (GRCm39) L227S probably damaging Het
Mettl27 T A 5: 134,964,657 (GRCm39) V138E probably damaging Het
Mov10 G T 3: 104,708,328 (GRCm39) L474I probably damaging Het
Nat10 T C 2: 103,557,098 (GRCm39) N852S probably benign Het
Nfkbie T C 17: 45,870,153 (GRCm39) V166A possibly damaging Het
Nktr T C 9: 121,575,599 (GRCm39) M369T probably damaging Het
Nlrp9a A T 7: 26,258,149 (GRCm39) N589I probably benign Het
Nrn1 G A 13: 36,914,577 (GRCm39) R8C probably benign Het
Nrsn1 A G 13: 25,437,451 (GRCm39) I159T probably damaging Het
Or1e29 A G 11: 73,667,503 (GRCm39) S217P possibly damaging Het
Or2h15 C T 17: 38,441,324 (GRCm39) G253D probably benign Het
Or5p61 A T 7: 107,758,164 (GRCm39) D305E probably benign Het
Or6c88 G A 10: 129,406,584 (GRCm39) G20D probably benign Het
Osbp T A 19: 11,956,031 (GRCm39) D385E probably benign Het
Pan3 T A 5: 147,463,802 (GRCm39) N547K probably damaging Het
Pip4p2 T A 4: 14,892,464 (GRCm39) D109E probably damaging Het
Pum1 C A 4: 130,499,292 (GRCm39) T1036K probably damaging Het
Rad54l2 C A 9: 106,590,671 (GRCm39) R485L probably damaging Het
Rps26 A T 10: 128,461,087 (GRCm39) F101I unknown Het
Sdsl T C 5: 120,598,702 (GRCm39) N138S probably benign Het
Slc28a2b C A 2: 122,353,013 (GRCm39) R453S probably benign Het
Slc39a6 A T 18: 24,717,084 (GRCm39) H649Q probably damaging Het
Snip1 T A 4: 124,965,273 (GRCm39) F226Y probably benign Het
Srrd T C 5: 112,485,322 (GRCm39) T334A unknown Het
St14 C T 9: 31,011,448 (GRCm39) D448N possibly damaging Het
Tmem270 T A 5: 134,930,538 (GRCm39) Q241L probably benign Het
Tubb4b T C 2: 25,114,180 (GRCm39) D41G probably benign Het
Usf3 T C 16: 44,040,368 (GRCm39) M1616T possibly damaging Het
Vmn2r95 A T 17: 18,672,245 (GRCm39) I733F possibly damaging Het
Zfp976 A T 7: 42,262,684 (GRCm39) C385* probably null 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
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'- AGGTACTCTGACATACAGCAAC -3'
(R):5'- GGAGATTTAACTGTAGATTAGCGAGTG -3'

Sequencing Primer
(F):5'- CTGGAGTATATAACCTCAACAGTTCC -3'
(R):5'- AGCGAGTGAATTTACAACTGTATC -3'
Posted On 2019-06-26