Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01284:Dhx9'

72657

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01284

Quality Score

Status

Chromosome

Chromosomal Location

153331504-153363406 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153340644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 665 (L665F)

Ref Sequence

ENSEMBL: ENSMUSP00000038135 (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: L665F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038135
Gene: ENSMUSG00000042699
AA Change: L665F

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: L664F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139825
Gene: ENSMUSG00000042699
AA Change: L664F

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 damaging
Transcript: ENSMUST00000188345
AA Change: L665F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139827
Gene: ENSMUSG00000042699
AA Change: L665F

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,827,035 (GRCm39)	M1L	possibly damaging	Het
Agr2	A	G	12: 36,045,580 (GRCm39)	D22G	possibly damaging	Het
C9orf72	A	T	4: 35,218,808 (GRCm39)	I17N	probably damaging	Het
Cck	G	T	9: 121,319,236 (GRCm39)	N82K	probably benign	Het
Cdh23	A	T	10: 60,301,876 (GRCm39)	I402N	possibly damaging	Het
Cfap157	T	C	2: 32,671,491 (GRCm39)	D105G	possibly damaging	Het
Dlg5	T	C	14: 24,196,265 (GRCm39)	E1621G	probably damaging	Het
Dst	A	G	1: 34,203,009 (GRCm39)	Y713C	probably damaging	Het
Fbp2	T	C	13: 62,988,099 (GRCm39)	S271G	probably benign	Het
Gp5	G	T	16: 30,128,028 (GRCm39)	S215R	probably benign	Het
Kpnb1	A	G	11: 97,056,928 (GRCm39)	M647T	probably damaging	Het
Masp2	A	G	4: 148,698,464 (GRCm39)	E515G	probably damaging	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Negr1	C	T	3: 156,851,854 (GRCm39)	P219S	probably damaging	Het
Nkx2-6	T	C	14: 69,409,326 (GRCm39)	S26P	probably benign	Het
Or10a49	C	T	7: 108,467,482 (GRCm39)	R293K	possibly damaging	Het
Pdzd9	A	C	7: 120,259,494 (GRCm39)	Y165D	possibly damaging	Het
Pik3ca	C	T	3: 32,516,733 (GRCm39)	A987V	probably damaging	Het
Pomp	T	A	5: 147,797,491 (GRCm39)		probably benign	Het
Rbm33	A	G	5: 28,615,707 (GRCm39)	T17A	probably damaging	Het
Skic2	T	C	17: 35,058,664 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,277,532 (GRCm39)	A334T	probably benign	Het
Tecta	A	G	9: 42,256,916 (GRCm39)	F1587L	probably damaging	Het
Tex29	C	A	8: 11,894,231 (GRCm39)	Y46*	probably null	Het
Tgm5	A	G	2: 120,883,028 (GRCm39)	S410P	possibly damaging	Het
Tmtc2	A	G	10: 105,107,372 (GRCm39)	Y714H	possibly damaging	Het
Tubgcp6	C	T	15: 88,994,258 (GRCm39)	R468Q	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
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
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

Posted On

2013-10-07