Mutagenetix > Incidental Mutation

Incidental Mutation 'R0309:Dhx9'

25022

Institutional Source

Beutler Lab

Gene Symbol

Dhx9

Ensembl Gene

ENSMUSG00000042699

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 9

Synonyms

leukophysin, Ddx9, RNA helicase, nuclear DNA helicase II, NDHII, NDH II, RHA

MMRRC Submission

038519-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0309 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

153455758-153487660 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153465695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 601 (D601E)

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: D602E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: D602E

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 benign
Transcript: ENSMUST00000186380
AA Change: D601E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: D601E

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: D602E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
AA Change: D602E

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

0.0696

Coding Region Coverage

1x: 98.7%
3x: 97.6%
10x: 94.3%
20x: 86.4%

Validation Efficiency

98% (125/127)

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	C	2: 35,376,259	D133G	possibly damaging	Het
Abcb4	A	C	5: 8,939,835	D796A	probably damaging	Het
Actg2	A	T	6: 83,519,914	V147E	probably damaging	Het
Adamts13	A	C	2: 26,986,989	T534P	probably damaging	Het
Ago1	T	C	4: 126,443,166	T249A	probably benign	Het
Ahnak	T	A	19: 9,002,495	I381N	probably damaging	Het
Akap9	A	G	5: 4,069,038	D3515G	probably benign	Het
Angptl3	T	C	4: 99,034,469	V249A	probably benign	Het
Ank	A	G	15: 27,567,572	T294A	possibly damaging	Het
Ank1	A	T	8: 23,104,809	H204L	probably damaging	Het
Apbb2	A	G	5: 66,310,988		probably benign	Het
Arhgap28	A	T	17: 67,901,429	S15T	probably benign	Het
Aspm	T	C	1: 139,482,511		probably benign	Het
Atp1a4	T	C	1: 172,234,987	E651G	probably damaging	Het
B3gnt2	A	T	11: 22,836,860	F109L	probably damaging	Het
Bpifb4	T	C	2: 153,959,683	F575L	probably damaging	Het
Calr	C	A	8: 84,843,031	K322N	probably benign	Het
Ccdc188	T	C	16: 18,219,305	S247P	possibly damaging	Het
Cdr1	T	A	X: 61,185,302	D86V	unknown	Het
Cep97	C	T	16: 55,925,058	V48I	probably damaging	Het
Chaf1b	T	A	16: 93,884,511	C6S	probably damaging	Het
Chd3	C	T	11: 69,357,018	D920N	probably damaging	Het
Clk1	T	C	1: 58,413,033		probably benign	Het
Cntnap3	T	A	13: 64,757,436		probably benign	Het
Col12a1	T	A	9: 79,600,011		probably null	Het
Col17a1	G	T	19: 47,671,362		probably benign	Het
Coq7	T	A	7: 118,529,717	I32F	possibly damaging	Het
Cox6a2	A	T	7: 128,205,935	F59I	probably damaging	Het
Cpq	A	G	15: 33,594,151	D436G	probably damaging	Het
Ctso	G	A	3: 81,944,861		probably null	Het
Cxadr	A	T	16: 78,334,948	H274L	probably benign	Het
Cyp2c40	A	T	19: 39,778,051	C367S	possibly damaging	Het
Cyp2c70	T	G	19: 40,160,671	M344L	possibly damaging	Het
Defa35	G	A	8: 21,065,855	V77I	probably benign	Het
Dhx57	A	G	17: 80,274,881	Y432H	probably damaging	Het
Dnah7a	C	G	1: 53,405,690	D3952H	probably damaging	Het
Dnah9	C	A	11: 66,026,972		probably benign	Het
Dstyk	C	A	1: 132,456,864		probably benign	Het
Efcab2	T	A	1: 178,475,904		probably benign	Het
Ehbp1l1	T	C	19: 5,720,570	E287G	possibly damaging	Het
Epgn	A	G	5: 91,032,214	T87A	probably benign	Het
Erc2	A	C	14: 28,141,225	E803A	probably damaging	Het
Fam26d	A	G	10: 34,044,047	W75R	probably damaging	Het
Fer	A	G	17: 64,139,016	*454W	probably null	Het
Glyr1	T	C	16: 5,031,972	D179G	probably damaging	Het
Gm12830	T	A	4: 114,844,976		probably benign	Het
Gm14085	A	T	2: 122,517,553	T253S	probably benign	Het
Gm9922	C	A	14: 101,729,693		probably benign	Het
Gsta3	C	T	1: 21,264,894	P200S	possibly damaging	Het
Hmgxb3	G	A	18: 61,155,128		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Il16	T	C	7: 83,722,554	K15E	probably damaging	Het
Kcnip2	T	A	19: 45,794,075		probably benign	Het
Kdm4c	T	C	4: 74,345,567	V696A	probably benign	Het
Kdr	A	G	5: 75,946,927		probably benign	Het
Klhl33	T	G	14: 50,891,411	H787P	probably damaging	Het
Klk14	A	T	7: 43,694,345	T159S	probably benign	Het
Lancl2	A	G	6: 57,703,132	N16D	probably damaging	Het
Lemd3	T	C	10: 120,937,110	N583S	possibly damaging	Het
Map3k4	TGCTGGCTTCAGGGCCACAGTCCGCTG	TGCTG	17: 12,271,015		probably null	Het
Mpl	T	G	4: 118,446,038		probably benign	Het
Myh7b	T	C	2: 155,630,672		probably benign	Het
Mylk	A	C	16: 34,912,297		probably benign	Het
Myof	A	T	19: 37,981,266	M316K	probably benign	Het
Nfib	T	A	4: 82,296,737	N543I	probably damaging	Het
Nfix	A	G	8: 84,721,774	S375P	probably damaging	Het
Nkrf	T	C	X: 36,890,116	Q171R	probably damaging	Het
Nmnat2	T	A	1: 153,077,001		probably benign	Het
Npffr2	G	A	5: 89,583,347	E379K	probably benign	Het
Npr2	T	C	4: 43,640,904		probably benign	Het
Nup98	A	C	7: 102,152,428	D212E	probably null	Het
Nwd2	T	C	5: 63,807,218	Y1382H	probably damaging	Het
Ocstamp	T	C	2: 165,395,992	R451G	possibly damaging	Het
Olfr593	T	A	7: 103,212,721	I287K	probably damaging	Het
Olfr804	A	G	10: 129,705,139	D87G	probably benign	Het
Pabpc1	C	T	15: 36,597,493	A551T	possibly damaging	Het
Papd7	A	T	13: 69,499,932	V781E	possibly damaging	Het
Pard3	A	T	8: 127,376,897		probably benign	Het
Pcdhb12	G	T	18: 37,436,121	V107L	probably benign	Het
Pik3cd	A	T	4: 149,663,220	V22D	probably damaging	Het
Pkd1l2	A	G	8: 116,997,576	V2396A	probably damaging	Het
Pnpla7	T	C	2: 24,987,195	I167T	probably damaging	Het
Pphln1	A	T	15: 93,441,707	H114L	possibly damaging	Het
Ppm1h	A	G	10: 122,920,782	N444S	probably damaging	Het
Prdm9	G	A	17: 15,557,384	T146I	probably damaging	Het
Prrc2a	A	G	17: 35,150,915		probably benign	Het
Prrx1	T	C	1: 163,312,559	D26G	possibly damaging	Het
Ptpn5	T	C	7: 47,079,294	E495G	probably damaging	Het
Rab23	A	C	1: 33,734,861		probably null	Het
Ralgps1	C	T	2: 33,157,923	M348I	probably benign	Het
Ranbp2	A	G	10: 58,479,868	T2137A	probably benign	Het
Rapgef4	G	T	2: 72,226,030	G654V	probably benign	Het
Rc3h2	A	T	2: 37,379,008		probably benign	Het
Reg2	G	A	6: 78,406,186	A39T	possibly damaging	Het
Sema4d	C	A	13: 51,725,311	V7F	probably benign	Het
Sgip1	T	C	4: 102,915,157		probably benign	Het
Sgpl1	C	T	10: 61,113,437		probably null	Het
Shisa9	G	A	16: 11,997,123	V212M	probably damaging	Het
Shq1	G	A	6: 100,573,627	P450L	probably benign	Het
Sin3a	A	G	9: 57,110,912	T872A	probably benign	Het
Sipa1l3	C	T	7: 29,348,350	R1371Q	probably benign	Het
Skint8	T	C	4: 111,938,867	V246A	probably benign	Het
Slc22a20	A	T	19: 5,972,957	V386D	probably damaging	Het
Slc2a7	G	A	4: 150,158,071		probably benign	Het
Slc35a2	T	A	X: 7,889,662	Y48N	probably damaging	Het
Slc4a2	G	T	5: 24,434,346	S413I	probably damaging	Het
Sntg2	T	C	12: 30,226,773	T427A	probably benign	Het
Soat1	T	C	1: 156,442,453	Y132C	probably damaging	Het
Stn1	G	T	19: 47,501,673	H342N	probably benign	Het
Tarbp1	T	A	8: 126,438,928		probably benign	Het
Tas2r113	A	C	6: 132,893,378	K123T	probably damaging	Het
Tbck	C	T	3: 132,734,407	Q504*	probably null	Het
Tenm3	C	T	8: 48,341,034	C380Y	probably damaging	Het
Triobp	A	G	15: 78,976,540	D1389G	probably damaging	Het
Trpm4	A	T	7: 45,308,706	F780I	probably damaging	Het
Tubb4a	G	T	17: 57,081,182	Y281*	probably null	Het
Txndc15	T	C	13: 55,724,582	F261S	probably damaging	Het
Ube3b	T	C	5: 114,419,469		probably benign	Het
Unc5c	G	C	3: 141,733,933	V196L	probably benign	Het
Upf3a	G	A	8: 13,795,500		probably null	Het
Vmn2r20	T	C	6: 123,386,104	K574E	probably benign	Het
Vps50	A	G	6: 3,536,853	M275V	possibly damaging	Het
Xrcc5	A	G	1: 72,307,576		probably benign	Het
Zbtb18	T	C	1: 177,448,616	L505S	probably damaging	Het
Zbtb41	T	C	1: 139,438,984	I567T	probably damaging	Het
Zfp598	T	C	17: 24,678,584		probably benign	Het

Other mutations in Dhx9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Dhx9	APN	1	153465748	missense	probably damaging	1.00
IGL01284:Dhx9	APN	1	153464898	missense	probably damaging	1.00
IGL01555:Dhx9	APN	1	153459566	missense	probably damaging	1.00
IGL01767:Dhx9	APN	1	153468868	splice site	probably benign
IGL02938:Dhx9	APN	1	153464630	missense	probably benign	0.37
R0001:Dhx9	UTSW	1	153462636	missense	probably damaging	1.00
R0046:Dhx9	UTSW	1	153472707	missense	probably benign	0.27
R0517:Dhx9	UTSW	1	153478916	missense	possibly damaging	0.93
R0589:Dhx9	UTSW	1	153472291	missense	probably damaging	1.00
R1217:Dhx9	UTSW	1	153458363	missense	probably damaging	1.00
R1406:Dhx9	UTSW	1	153464938	missense	probably damaging	1.00
R1406:Dhx9	UTSW	1	153464938	missense	probably damaging	1.00
R1430:Dhx9	UTSW	1	153483747	missense	probably benign	0.44
R1456:Dhx9	UTSW	1	153465695	missense	probably benign	0.00
R1460:Dhx9	UTSW	1	153465680	missense	probably benign	0.01
R1724:Dhx9	UTSW	1	153458488	missense	probably benign	0.00
R1848:Dhx9	UTSW	1	153465753	missense	probably damaging	0.99
R1922:Dhx9	UTSW	1	153460274	splice site	probably null
R2001:Dhx9	UTSW	1	153456111	nonsense	probably null
R3084:Dhx9	UTSW	1	153465699	missense	probably benign	0.34
R3085:Dhx9	UTSW	1	153465699	missense	probably benign	0.34
R3123:Dhx9	UTSW	1	153465706	missense	possibly damaging	0.90
R3730:Dhx9	UTSW	1	153478120	missense	probably benign	0.16
R4274:Dhx9	UTSW	1	153468926	missense	probably damaging	1.00
R4353:Dhx9	UTSW	1	153471789	missense	probably damaging	1.00
R4560:Dhx9	UTSW	1	153467157	missense	probably damaging	1.00
R4583:Dhx9	UTSW	1	153460303	missense	probably damaging	0.98
R4598:Dhx9	UTSW	1	153467051	frame shift	probably null
R4603:Dhx9	UTSW	1	153467051	frame shift	probably null
R4889:Dhx9	UTSW	1	153481149	missense	probably damaging	1.00
R4931:Dhx9	UTSW	1	153472673	missense	probably benign	0.02
R5411:Dhx9	UTSW	1	153481223	missense	probably benign	0.27
R5569:Dhx9	UTSW	1	153467092	missense	possibly damaging	0.83
R5635:Dhx9	UTSW	1	153483747	missense	probably benign	0.44
R5659:Dhx9	UTSW	1	153471735	missense	probably damaging	1.00
R6128:Dhx9	UTSW	1	153478089	missense	probably damaging	1.00
R6215:Dhx9	UTSW	1	153472463	missense	probably damaging	1.00
R6428:Dhx9	UTSW	1	153456578	unclassified	probably benign
R6489:Dhx9	UTSW	1	153456643	unclassified	probably benign
R6717:Dhx9	UTSW	1	153473464	splice site	probably null
R7098:Dhx9	UTSW	1	153465022	missense	probably benign
R7209:Dhx9	UTSW	1	153464623	missense	possibly damaging	0.90
R7226:Dhx9	UTSW	1	153465677	missense	probably benign	0.00
R7440:Dhx9	UTSW	1	153481231	missense	probably benign
R7685:Dhx9	UTSW	1	153458406	missense	probably damaging	0.99
R7712:Dhx9	UTSW	1	153465001	missense	probably benign	0.07
R8088:Dhx9	UTSW	1	153462697	missense	probably benign	0.26
R8371:Dhx9	UTSW	1	153456215	missense	unknown
R8397:Dhx9	UTSW	1	153468911	missense	probably damaging	1.00
R8502:Dhx9	UTSW	1	153459464	missense	probably benign	0.01
R8519:Dhx9	UTSW	1	153473176	missense	probably damaging	1.00
R8531:Dhx9	UTSW	1	153458436	missense	possibly damaging	0.95
R8842:Dhx9	UTSW	1	153462589	missense	possibly damaging	0.91
R9145:Dhx9	UTSW	1	153461080	missense	probably damaging	1.00
R9295:Dhx9	UTSW	1	153464927	missense	probably damaging	0.98
R9557:Dhx9	UTSW	1	153457546	missense	probably benign	0.10
R9661:Dhx9	UTSW	1	153464647	missense	probably damaging	1.00
X0066:Dhx9	UTSW	1	153472529	missense	probably benign	0.00
Z1177:Dhx9	UTSW	1	153456575	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTTCCAGGTACTCTGACATACAGCAAC -3'
(R):5'- TGGCAAGGGAGCACAGCTTAAC -3'

Sequencing Primer
(F):5'- GAGTATATAACCTCAACAGTTCCATC -3'
(R):5'- TGCAATCTTGGGGAGTCAC -3'

Posted On

2013-04-16