Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Dhx9'

694534

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153455758-153487660 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153461080 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 807 (I807T)

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: I808T

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

SMART Domains

Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: I808T

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: I807T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: I807T

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

SMART Domains

Protein: ENSMUSP00000139827
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	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

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,559,069	H720L	probably benign	Het
Abca15	T	C	7: 120,388,165	Y1225H	probably benign	Het
Adck1	C	A	12: 88,368,423	N26K	probably benign	Het
Adcy3	A	G	12: 4,195,208	D382G	probably damaging	Het
Ahi1	T	A	10: 21,000,589	C800S	probably benign	Het
Ahnak	G	T	19: 9,014,923	V4524L	probably benign	Het
Apol11a	C	T	15: 77,513,578	A43V	probably benign	Het
Arid1a	T	C	4: 133,693,903	M479V	unknown	Het
Atp13a2	T	A	4: 140,996,745	C324S	probably damaging	Het
C2cd2	T	G	16: 97,876,286	T413P	probably damaging	Het
Cct5	A	C	15: 31,590,961	D531E		Het
Chst1	A	T	2: 92,614,178	I332F	probably damaging	Het
Col12a1	A	T	9: 79,620,062	V2662D	probably benign	Het
Cts3	A	G	13: 61,564,986	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,121,212		probably benign	Het
Doxl2	C	A	6: 48,975,956	R272S	probably benign	Het
Exoc3l4	T	C	12: 111,422,152	L25P	probably benign	Het
Ggcx	T	A	6: 72,425,922	C288S	probably benign	Het
Gjb3	A	G	4: 127,326,347	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,499,337	S201P	probably benign	Het
Helz2	A	T	2: 181,240,055	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,696,250		probably null	Het
Il12a	C	T	3: 68,691,542	R19W	unknown	Het
Isoc1	C	T	18: 58,673,275	A219V	possibly damaging	Het
Jup	T	A	11: 100,378,298	T430S	probably benign	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Map4	A	T	9: 110,026,200	Q131L	probably damaging	Het
Mau2	T	A	8: 70,027,515	K314M	probably damaging	Het
Mga	A	G	2: 119,964,012	M2726V	probably benign	Het
Mgme1	G	A	2: 144,272,485		probably null	Het
Msrb2	A	G	2: 19,394,255	E143G	probably benign	Het
Muc5b	G	T	7: 141,857,613	C1432F	unknown	Het
Naglu	T	C	11: 101,071,114	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,218,367	Y103H	probably benign	Het
Nodal	A	G	10: 61,423,680	N299D	probably damaging	Het
Notch1	T	C	2: 26,459,575	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,572,952	S97A	probably benign	Het
Nuak1	A	T	10: 84,374,723	S500R	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,737,913	E104G	probably benign	Het
Olfr401	C	T	11: 74,121,700	T137I	probably benign	Het
Olfr670	T	A	7: 104,959,997	H245L	probably damaging	Het
Palld	T	C	8: 61,877,073	T257A	probably benign	Het
Pcnx4	C	T	12: 72,556,269	P435L	probably damaging	Het
Piezo1	T	C	8: 122,482,014	T2538A	unknown	Het
Plagl1	T	C	10: 13,128,128	L380P	unknown	Het
Polrmt	G	T	10: 79,740,581	Q514K	probably benign	Het
Psg17	T	G	7: 18,819,926	D133A	probably benign	Het
Rab3b	G	A	4: 108,940,706	D185N	probably benign	Het
Ranbp2	T	A	10: 58,455,914	S248T	probably benign	Het
Rdh10	C	A	1: 16,129,206	A212D	probably damaging	Het
Rinl	A	G	7: 28,795,664	H154R		Het
Selenbp1	T	C	3: 94,944,103	M389T	probably benign	Het
Serpina1c	T	A	12: 103,896,141	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,149,681	S467T		Het
Sipa1l1	A	G	12: 82,396,561	D875G	probably benign	Het
Slc10a6	A	T	5: 103,628,934	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,270,355	I577V	possibly damaging	Het
Slc20a2	T	C	8: 22,540,431	F168L	probably benign	Het
Slc25a1	A	T	16: 17,927,244		probably null	Het
Slc5a12	A	G	2: 110,640,897	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,800,932	D42G	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Susd5	G	A	9: 114,096,221	G391R	probably damaging	Het
Sync	G	T	4: 129,293,825	A217S		Het
Tha1	T	A	11: 117,868,686	N326Y	probably damaging	Het
Tjp1	A	T	7: 65,302,816	F1590Y	probably benign	Het
Tle4	T	C	19: 14,468,219	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024	T2054A	probably damaging	Het
Ttc30a1	A	T	2: 75,980,079	Y553*	probably null	Het
Ttll4	A	G	1: 74,679,790	K267E	probably benign	Het
Usp32	C	T	11: 85,022,292	G930D	probably damaging	Het
Vmn2r75	T	C	7: 86,164,239	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,268,194	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,398		probably benign	Het
Zfp459	C	T	13: 67,408,616	S116N	probably benign	Het
Zfp981	C	A	4: 146,537,953	T445N	possibly 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
R0046:Dhx9	UTSW	1	153472707	missense	probably benign	0.27
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
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'- TGCTTAACAAAGTTCTCCCCAC -3'
(R):5'- CAGGAGCCAGTTTTCAGTCAAC -3'

Sequencing Primer
(F):5'- ACCCAGTCTGTATCTGACTCAC -3'
(R):5'- GGAGCCAGTTTTCAGTCAACTAGTC -3'

Posted On

2022-01-20