Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Dhx9'

43680

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

038340-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153455758-153487660 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 153472707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 291 (V291M)

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: V292M

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: V292M

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: V291M

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: V291M

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
AA Change: V291M

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139806
Gene: ENSMUSG00000042699
AA Change: V291M

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: V292M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
AA Change: V292M

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

noncoding transcript
Transcript: ENSMUST00000189509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189516

Predicted Effect

probably benign
Transcript: ENSMUST00000190544

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788		probably null	Het
Aldob	T	C	4: 49,543,842	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995	T9A	probably benign	Het
Auh	G	A	13: 52,929,385		probably benign	Het
B3gnt3	T	C	8: 71,692,923	Y267C	probably damaging	Het
BC051142	T	C	17: 34,460,121		probably null	Het
Card11	T	C	5: 140,908,524	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963		probably benign	Het
Col6a6	C	T	9: 105,748,848		probably benign	Het
Col9a3	G	A	2: 180,609,487	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832		probably benign	Het
Cpt2	A	G	4: 107,904,362		probably null	Het
Crebrf	T	A	17: 26,763,334	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035		noncoding transcript	Het
Dmxl1	T	A	18: 49,878,082	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874		probably null	Het
Dock4	G	A	12: 40,737,360		probably benign	Het
Dpp3	G	T	19: 4,914,643	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990		probably benign	Het
Flg	T	A	3: 93,277,721		probably benign	Het
Gas2l2	A	T	11: 83,421,910	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755		probably benign	Het
Haus5	C	T	7: 30,654,180	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227		probably null	Het
Khdrbs2	A	G	1: 32,619,202	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770		probably benign	Het
Man1a	A	G	10: 53,919,187	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608		probably benign	Het
Olfr1080	A	G	2: 86,553,632	F164S	probably damaging	Het
Olfr1214	C	T	2: 88,987,349	M284I	probably benign	Het
Olfr1260	C	T	2: 89,978,507	T243I	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr742	T	A	14: 50,516,139	*312K	probably null	Het
Pcdhb13	A	T	18: 37,444,257	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479	T931M	unknown	Het
Peli2	C	T	14: 48,121,202	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985		probably benign	Het
Prg4	T	C	1: 150,456,086	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205		probably benign	Het
Rab11fip1	A	G	8: 27,153,121	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016		probably null	Het
Sis	T	G	3: 72,932,094	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377		probably benign	Het
Stag3	C	T	5: 138,283,023		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ttn	A	G	2: 76,951,542		probably benign	Het
Unc79	A	G	12: 103,125,681	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597		probably null	Het
Vmn2r111	A	G	17: 22,548,009	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278	C1067R	probably damaging	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
R0309:Dhx9	UTSW	1	153465695	missense	probably benign	0.00
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'- GGAACCACTCCCACTGCATTTTGTC -3'
(R):5'- TTAGCAGCACAGTCATGTGCCCTC -3'

Sequencing Primer
(F):5'- GGTTCAAAATGAGCCAATTTCCC -3'
(R):5'- AGGCTTACTCTGGGCTTACAAAG -3'

Posted On

2013-05-29