Mutagenetix > Incidental Mutation

Incidental Mutation 'R6428:Dhx9'

518386

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

044421-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6428 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153331504-153363406 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 153332324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042141] [ENSMUST00000042373] [ENSMUST00000186380]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000042141
AA Change: G1216S

SMART Domains

Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: G1216S

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: ENSMUST00000042373

SMART Domains

Protein: ENSMUSP00000036347
Gene: ENSMUSG00000042708

Domain	Start	End	E-Value	Type
low complexity region	42	54	N/A	INTRINSIC
CASH	362	522	2.85e-8	SMART
PbH1	479	500	2.3e3	SMART
PbH1	501	523	5.74e1	SMART
PbH1	524	557	2.3e3	SMART
PbH1	560	582	1.56e0	SMART
low complexity region	603	608	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000186380
AA Change: G1215S

SMART Domains

Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: G1215S

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	C	T	16: 8,420,300 (GRCm39)		probably benign	Het
Cts6	T	G	13: 61,344,237 (GRCm39)	N272H	probably damaging	Het
Daam2	C	T	17: 49,776,404 (GRCm39)	E828K	probably damaging	Het
Glb1l3	T	C	9: 26,770,748 (GRCm39)	N106S	probably damaging	Het
Hdlbp	T	C	1: 93,359,167 (GRCm39)	D175G	possibly damaging	Het
Hectd4	A	G	5: 121,488,508 (GRCm39)	K3600E	possibly damaging	Het
Hspa13	A	T	16: 75,554,874 (GRCm39)	L404Q	probably damaging	Het
Iws1	A	G	18: 32,219,343 (GRCm39)	D475G	probably damaging	Het
Klhdc10	T	C	6: 30,439,855 (GRCm39)	S13P	probably damaging	Het
Lepr	C	T	4: 101,637,295 (GRCm39)	T728I	probably damaging	Het
Ncapd3	A	G	9: 26,963,960 (GRCm39)		probably null	Het
Pasd1	CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC	CATCTTTACCATCATGTCAAGTATCTTTACC	X: 70,983,126 (GRCm39)		probably benign	Homo
Phb2	A	G	6: 124,692,954 (GRCm39)	D276G	probably benign	Het
Prrc2b	A	G	2: 32,116,508 (GRCm39)		probably null	Het
Rasgrf2	T	C	13: 92,136,100 (GRCm39)	K604R	probably damaging	Het
Rp1l1	T	A	14: 64,269,838 (GRCm39)	M1808K	possibly damaging	Het
Setd3	T	C	12: 108,079,597 (GRCm39)	D302G	probably damaging	Het
Slc38a10	T	A	11: 119,996,298 (GRCm39)	Q933L	probably benign	Het
Slco1a1	A	G	6: 141,871,416 (GRCm39)	L250S	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Vmn2r26	A	G	6: 124,003,039 (GRCm39)	I150V	probably benign	Het
Zfp318	C	T	17: 46,710,262 (GRCm39)	R662C	probably damaging	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
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
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'- TTCCCACGGTAAGAGTTGGG -3'
(R):5'- TTGCTAATTTAGTGTGCAGAGC -3'

Sequencing Primer
(F):5'- CCACGGTAAGAGTTGGGGCTTATAC -3'
(R):5'- GAGCACAGCTAAAATGATTTTTCCCC -3'

Posted On

2018-05-24