Mutagenetix > Incidental Mutation

Incidental Mutation 'R1848:Dhx9'

207844

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

039873-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1848 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153331504-153363406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153341499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 582 (Q582R)

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 damaging
Transcript: ENSMUST00000042141
AA Change: Q583R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: Q583R

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000186380
AA Change: Q582R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: Q582R

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: Q583R

PolyPhen 2 Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
AA Change: Q583R

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.4331

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

Validation Efficiency

98% (120/123)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	A	8: 88,295,121 (GRCm39)	Y86*	probably null	Het
Aadac	A	G	3: 59,947,118 (GRCm39)	E272G	probably damaging	Het
Abcc8	A	T	7: 45,816,326 (GRCm39)	D271E	probably benign	Het
Acan	T	C	7: 78,748,783 (GRCm39)	F1185L	probably benign	Het
Adam1a	A	T	5: 121,657,683 (GRCm39)	C537S	probably damaging	Het
Ago2	A	G	15: 72,995,814 (GRCm39)	V395A	probably benign	Het
Alox15	A	G	11: 70,241,578 (GRCm39)	V101A	probably damaging	Het
Ankra2	T	C	13: 98,407,632 (GRCm39)	I194T	probably damaging	Het
Apobec4	C	A	1: 152,631,981 (GRCm39)	P3H	probably damaging	Het
Arid3b	G	T	9: 57,703,960 (GRCm39)	Y329*	probably null	Het
Atm	A	T	9: 53,379,312 (GRCm39)	S1993T	probably benign	Het
Bpgm	T	G	6: 34,464,669 (GRCm39)	S129A	probably benign	Het
Brat1	A	G	5: 140,704,264 (GRCm39)	D839G	possibly damaging	Het
Ccdc15	A	T	9: 37,253,866 (GRCm39)	S128T	probably benign	Het
Cd300lg	A	T	11: 101,937,032 (GRCm39)		probably benign	Het
Cdc34b	C	A	11: 94,633,303 (GRCm39)	Q168K	probably damaging	Het
Celsr2	A	T	3: 108,308,626 (GRCm39)	V1767E	probably benign	Het
Cep350	T	C	1: 155,829,397 (GRCm39)	D169G	probably benign	Het
Col7a1	A	T	9: 108,798,633 (GRCm39)	D1762V	possibly damaging	Het
Coro7	A	G	16: 4,448,298 (GRCm39)	L724P	probably damaging	Het
Crb1	T	A	1: 139,164,750 (GRCm39)	I1125F	probably damaging	Het
Ctif	T	A	18: 75,653,012 (GRCm39)	D415V	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs2	A	G	14: 55,478,298 (GRCm39)	D237G	probably benign	Het
Dnajc1	C	T	2: 18,224,524 (GRCm39)	R443Q	probably damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Dpf2	C	A	19: 5,956,643 (GRCm39)	Q70H	probably damaging	Het
Dqx1	T	A	6: 83,043,088 (GRCm39)	D608E	probably damaging	Het
Dync2h1	T	A	9: 7,049,166 (GRCm39)	T3245S	probably benign	Het
Ect2l	A	G	10: 18,075,781 (GRCm39)	L35P	probably damaging	Het
Efcab5	A	T	11: 76,994,132 (GRCm39)	L1285Q	probably damaging	Het
Eif4g1	G	C	16: 20,500,617 (GRCm39)	R697P	probably damaging	Het
Emsy	T	A	7: 98,250,028 (GRCm39)	E753V	probably damaging	Het
Entpd3	A	G	9: 120,387,485 (GRCm39)	I227M	probably damaging	Het
Epn1	T	A	7: 5,092,997 (GRCm39)	V103E	probably damaging	Het
Esrra	T	C	19: 6,889,378 (GRCm39)	D337G	probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fat2	A	G	11: 55,202,384 (GRCm39)	I230T	probably damaging	Het
Fbxl16	A	G	17: 26,035,420 (GRCm39)	I6V	probably benign	Het
Fgf23	T	C	6: 127,050,156 (GRCm39)	I55T	probably damaging	Het
Fibcd1	T	A	2: 31,711,561 (GRCm39)	D288V	probably damaging	Het
Flnb	T	C	14: 7,892,113 (GRCm38)	I594T	probably damaging	Het
Gabbr2	T	C	4: 46,739,823 (GRCm39)	E449G	probably benign	Het
Gbf1	T	G	19: 46,260,476 (GRCm39)	S1130A	possibly damaging	Het
Gipc3	T	C	10: 81,177,099 (GRCm39)	E157G	probably damaging	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm6625	A	C	8: 89,873,462 (GRCm39)		noncoding transcript	Het
Gpx4	A	G	10: 79,891,870 (GRCm39)		probably benign	Het
Grb10	A	G	11: 11,896,029 (GRCm39)	F264L	possibly damaging	Het
Grik3	T	C	4: 125,587,931 (GRCm39)	Y684H	probably damaging	Het
Gstp1	C	T	19: 4,086,795 (GRCm39)		probably benign	Het
H2bc27	A	T	11: 58,839,928 (GRCm39)	I55F	possibly damaging	Het
Haus8	G	A	8: 71,708,767 (GRCm39)		probably benign	Het
Hip1	G	A	5: 135,463,995 (GRCm39)		probably null	Het
Hspbap1	T	A	16: 35,639,134 (GRCm39)		probably null	Het
Htr2b	T	A	1: 86,027,151 (GRCm39)	I452F	possibly damaging	Het
Hydin	T	A	8: 111,296,440 (GRCm39)	H3656Q	probably benign	Het
Klb	T	A	5: 65,506,180 (GRCm39)	D142E	probably benign	Het
Lamb3	A	T	1: 193,016,924 (GRCm39)	T777S	possibly damaging	Het
Lins1	C	A	7: 66,364,070 (GRCm39)	T650K	probably damaging	Het
Loxhd1	A	G	18: 77,369,667 (GRCm39)	K5R	possibly damaging	Het
Lpp	G	A	16: 24,580,405 (GRCm39)	M40I	probably damaging	Het
Mia2	A	T	12: 59,217,037 (GRCm39)		probably benign	Het
Miip	A	C	4: 147,947,549 (GRCm39)	F204V	probably damaging	Het
Mmp21	T	C	7: 133,278,882 (GRCm39)	R323G	probably benign	Het
Mta3	T	A	17: 84,062,980 (GRCm39)		probably benign	Het
Myh1	A	G	11: 67,104,456 (GRCm39)	K1004R	probably benign	Het
Myh14	T	A	7: 44,281,853 (GRCm39)	I810F	probably damaging	Het
Nbas	A	C	12: 13,463,598 (GRCm39)	D1295A	probably damaging	Het
Niban3	T	C	8: 72,056,413 (GRCm39)	M371T	possibly damaging	Het
Npr2	T	G	4: 43,632,384 (GRCm39)	V67G	probably benign	Het
Oas1f	C	A	5: 120,993,492 (GRCm39)	Q235K	probably damaging	Het
Or12d17	T	A	17: 37,777,938 (GRCm39)	S280R	probably damaging	Het
Or13a27	T	A	7: 139,925,900 (GRCm39)	M1L	probably benign	Het
Or1p1	G	T	11: 74,180,039 (GRCm39)	C189F	probably damaging	Het
Or52ae9	T	C	7: 103,390,381 (GRCm39)	N22S	probably benign	Het
Or7e166	C	T	9: 19,624,386 (GRCm39)	H88Y	probably benign	Het
Pafah2	GCCCC	GCCCCC	4: 134,152,852 (GRCm39)		probably null	Het
Pde1b	A	G	15: 103,433,767 (GRCm39)		probably null	Het
Pdilt	T	C	7: 119,088,607 (GRCm39)	T465A	probably benign	Het
Plxnd1	T	C	6: 115,943,507 (GRCm39)	H1233R	probably damaging	Het
Ppm1b	T	A	17: 85,301,552 (GRCm39)	M144K	probably benign	Het
Prkdc	T	C	16: 15,625,922 (GRCm39)	L3316S	probably benign	Het
Prm2	T	A	16: 10,609,455 (GRCm39)		probably benign	Het
Prmt7	T	C	8: 106,963,640 (GRCm39)	V240A	probably benign	Het
Prx	C	A	7: 27,218,313 (GRCm39)	A938E	possibly damaging	Het
Rbm7	A	G	9: 48,402,194 (GRCm39)	V131A	probably benign	Het
Ric1	T	A	19: 29,578,213 (GRCm39)		probably null	Het
Rnf150	A	T	8: 83,590,639 (GRCm39)	M1L	possibly damaging	Het
Rnf20	C	T	4: 49,644,628 (GRCm39)	R298W	probably damaging	Het
Rp1	T	A	1: 4,417,455 (GRCm39)	Y1219F	possibly damaging	Het
Scn7a	A	G	2: 66,514,357 (GRCm39)		probably null	Het
Sdad1	A	G	5: 92,440,510 (GRCm39)		probably null	Het
Septin9	T	C	11: 117,243,909 (GRCm39)		probably benign	Het
Serinc3	T	C	2: 163,487,409 (GRCm39)		probably benign	Het
Shc3	C	T	13: 51,615,424 (GRCm39)	G178R	probably damaging	Het
Slc4a10	A	T	2: 62,146,950 (GRCm39)	K1090M	probably damaging	Het
Slco1a1	T	C	6: 141,868,837 (GRCm39)	I376V	probably benign	Het
Slmap	A	T	14: 26,143,729 (GRCm39)	F719L	probably benign	Het
Smgc	A	G	15: 91,743,956 (GRCm39)	N573D	possibly damaging	Het
Spx	G	A	6: 142,359,805 (GRCm39)		probably null	Het
Srrt	C	G	5: 137,295,207 (GRCm39)	E308Q	probably damaging	Het
Tas2r130	T	A	6: 131,607,560 (GRCm39)	R78S	probably benign	Het
Tchhl1	A	G	3: 93,378,408 (GRCm39)	R371G	probably damaging	Het
Teddm2	C	T	1: 153,726,194 (GRCm39)	A174T	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Trim33	T	C	3: 103,231,956 (GRCm39)		probably benign	Het
Tspan31	A	G	10: 126,905,327 (GRCm39)	V40A	probably damaging	Het
Uevld	A	G	7: 46,594,975 (GRCm39)		probably benign	Het
Vcl	G	T	14: 21,059,063 (GRCm39)	A560S	probably benign	Het
Vmn2r24	T	A	6: 123,793,183 (GRCm39)	C837S	probably damaging	Het
Vmn2r57	C	T	7: 41,077,531 (GRCm39)	V212M	probably damaging	Het
Vps13c	A	G	9: 67,843,622 (GRCm39)	T1968A	probably benign	Het
Vtn	A	G	11: 78,391,393 (GRCm39)	R269G	probably damaging	Het
Wdcp	G	A	12: 4,900,245 (GRCm39)	V34I	possibly damaging	Het
Zc3h14	A	G	12: 98,719,091 (GRCm39)	D152G	possibly damaging	Het
Zfp189	C	T	4: 49,529,266 (GRCm39)	P123L	probably benign	Het
Zfp318	T	C	17: 46,716,981 (GRCm39)	S1038P	possibly damaging	Het
Zfp873	A	G	10: 81,896,406 (GRCm39)	D416G	probably benign	Het

Other mutations in Dhx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCAATGTCAATTATTCATGCTGTGC -3'
(R):5'- AAGCCCAGCTGGTTTTGTAAG -3'

Sequencing Primer
(F):5'- GCTGTGCTTCAACTTAAACAACTG -3'
(R):5'- CCAGCTGGTTTTGTAAGACTATATTC -3'

Posted On

2014-06-23