Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01922:Dhx8'

180126

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhx8

Ensembl Gene

ENSMUSG00000034931

Gene Name

DEAH-box helicase 8

Synonyms

RNA helicase, Ddx8, mDEAH6

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL01922

Quality Score

Status

Chromosome

Chromosomal Location

101623782-101658184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101630633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 347 (V347I)

Ref Sequence

ENSEMBL: ENSMUSP00000037251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039152] [ENSMUST00000129741]

AlphaFold

A2A4P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000039152
AA Change: V347I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: V347I

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
low complexity region	168	240	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
S1	287	360	3.52e-18	SMART
low complexity region	453	469	N/A	INTRINSIC
coiled coil region	496	525	N/A	INTRINSIC
DEXDc	587	771	7.26e-33	SMART
HELICc	815	919	7.45e-21	SMART
HA2	980	1070	1.34e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125409

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129741
AA Change: V294I

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: V294I

Domain	Start	End	E-Value	Type
low complexity region	2	8	N/A	INTRINSIC
low complexity region	115	187	N/A	INTRINSIC
low complexity region	191	201	N/A	INTRINSIC
S1	234	307	3.52e-18	SMART
low complexity region	400	416	N/A	INTRINSIC
coiled coil region	443	472	N/A	INTRINSIC
DEXDc	534	718	7.26e-33	SMART
HELICc	762	866	7.45e-21	SMART
HA2	927	1017	1.34e-38	SMART

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 is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	C	A	7: 133,539,201 (GRCm39)	G104*	probably null	Het
Adamtsl1	A	G	4: 86,168,139 (GRCm39)	K477R	probably damaging	Het
Arhgap35	A	C	7: 16,298,180 (GRCm39)	V295G	possibly damaging	Het
Cacna1c	A	T	6: 118,629,629 (GRCm39)	I1234N	probably damaging	Het
Cntnap5c	A	G	17: 58,637,114 (GRCm39)	E997G	possibly damaging	Het
Cog6	T	C	3: 52,893,846 (GRCm39)	N601S	probably benign	Het
Col28a1	G	T	6: 8,158,133 (GRCm39)	D308E	probably damaging	Het
Cplane1	A	G	15: 8,300,305 (GRCm39)	K3204R	unknown	Het
Cspg4	G	A	9: 56,795,171 (GRCm39)	D969N	probably damaging	Het
Dnah9	G	T	11: 65,965,860 (GRCm39)		probably benign	Het
Erap1	T	C	13: 74,810,506 (GRCm39)	Y282H	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H2-T3	A	G	17: 36,497,992 (GRCm39)	M307T	possibly damaging	Het
Ifi204	T	C	1: 173,589,288 (GRCm39)	I48V	possibly damaging	Het
Myh1	T	C	11: 67,101,292 (GRCm39)		probably null	Het
Nphp1	T	C	2: 127,621,989 (GRCm39)	Y46C	possibly damaging	Het
Odad3	G	T	9: 21,904,826 (GRCm39)		probably benign	Het
Or14j7	A	T	17: 38,234,850 (GRCm39)	H131L	possibly damaging	Het
Or2t46	G	A	11: 58,471,899 (GRCm39)	M76I	probably benign	Het
Piezo1	G	T	8: 123,219,431 (GRCm39)	S1066R	probably benign	Het
Plekhh1	T	C	12: 79,126,353 (GRCm39)	S1353P	probably benign	Het
Prl6a1	A	T	13: 27,499,343 (GRCm39)	D37V	possibly damaging	Het
Scn4a	A	G	11: 106,229,978 (GRCm39)		probably null	Het
Selenoo	T	C	15: 88,983,852 (GRCm39)	V585A	probably benign	Het
Tmf1	T	C	6: 97,153,891 (GRCm39)	T61A	probably benign	Het
Tshz3	A	G	7: 36,469,030 (GRCm39)	T340A	probably damaging	Het
Unc50	A	G	1: 37,476,284 (GRCm39)	D148G	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpc	C	T	6: 91,482,407 (GRCm39)	R192H	probably damaging	Het

Other mutations in Dhx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01957:Dhx8	APN	11	101,645,652 (GRCm39)	missense	possibly damaging	0.48
IGL02039:Dhx8	APN	11	101,654,853 (GRCm39)	critical splice donor site	probably null
IGL02115:Dhx8	APN	11	101,643,214 (GRCm39)	missense	probably damaging	1.00
IGL02161:Dhx8	APN	11	101,648,432 (GRCm39)	missense	probably damaging	1.00
IGL02691:Dhx8	APN	11	101,642,830 (GRCm39)	splice site	probably benign
IGL02697:Dhx8	APN	11	101,645,607 (GRCm39)	missense	probably damaging	1.00
FR4304:Dhx8	UTSW	11	101,629,014 (GRCm39)	small insertion	probably benign
FR4342:Dhx8	UTSW	11	101,629,032 (GRCm39)	frame shift	probably null
FR4449:Dhx8	UTSW	11	101,629,020 (GRCm39)	small insertion	probably benign
FR4449:Dhx8	UTSW	11	101,629,032 (GRCm39)	small insertion	probably benign
FR4449:Dhx8	UTSW	11	101,629,033 (GRCm39)	small insertion	probably benign
FR4449:Dhx8	UTSW	11	101,629,010 (GRCm39)	small insertion	probably benign
FR4449:Dhx8	UTSW	11	101,629,016 (GRCm39)	small deletion	probably benign
FR4589:Dhx8	UTSW	11	101,629,014 (GRCm39)	small insertion	probably benign
FR4737:Dhx8	UTSW	11	101,629,015 (GRCm39)	small insertion	probably benign
FR4737:Dhx8	UTSW	11	101,629,005 (GRCm39)	small insertion	probably benign
FR4737:Dhx8	UTSW	11	101,629,008 (GRCm39)	small insertion	probably benign
R0402:Dhx8	UTSW	11	101,643,223 (GRCm39)	missense	probably damaging	1.00
R0525:Dhx8	UTSW	11	101,654,754 (GRCm39)	missense	probably damaging	1.00
R0969:Dhx8	UTSW	11	101,630,526 (GRCm39)	splice site	probably benign
R1497:Dhx8	UTSW	11	101,626,213 (GRCm39)	intron	probably benign
R1576:Dhx8	UTSW	11	101,643,145 (GRCm39)	missense	probably damaging	1.00
R1758:Dhx8	UTSW	11	101,657,564 (GRCm39)	missense	probably damaging	1.00
R1773:Dhx8	UTSW	11	101,643,189 (GRCm39)	missense	possibly damaging	0.87
R1941:Dhx8	UTSW	11	101,643,024 (GRCm39)	critical splice donor site	probably null
R1954:Dhx8	UTSW	11	101,644,105 (GRCm39)	missense	probably damaging	0.98
R2124:Dhx8	UTSW	11	101,653,071 (GRCm39)	missense	probably damaging	0.99
R2128:Dhx8	UTSW	11	101,629,235 (GRCm39)	missense	probably benign	0.06
R2148:Dhx8	UTSW	11	101,629,203 (GRCm39)	nonsense	probably null
R2206:Dhx8	UTSW	11	101,641,797 (GRCm39)	missense	probably benign	0.03
R2207:Dhx8	UTSW	11	101,641,797 (GRCm39)	missense	probably benign	0.03
R4667:Dhx8	UTSW	11	101,628,987 (GRCm39)	missense	unknown
R4678:Dhx8	UTSW	11	101,630,634 (GRCm39)	missense	probably damaging	1.00
R4825:Dhx8	UTSW	11	101,628,996 (GRCm39)	nonsense	probably null
R4943:Dhx8	UTSW	11	101,628,526 (GRCm39)	nonsense	probably null
R5341:Dhx8	UTSW	11	101,629,016 (GRCm39)	small deletion	probably benign
R5586:Dhx8	UTSW	11	101,623,862 (GRCm39)	unclassified	probably benign
R5662:Dhx8	UTSW	11	101,657,584 (GRCm39)	missense	possibly damaging	0.89
R5664:Dhx8	UTSW	11	101,631,577 (GRCm39)	missense	probably damaging	1.00
R6082:Dhx8	UTSW	11	101,655,139 (GRCm39)	missense	probably damaging	1.00
R6085:Dhx8	UTSW	11	101,655,139 (GRCm39)	missense	probably damaging	1.00
R6415:Dhx8	UTSW	11	101,628,513 (GRCm39)	missense	unknown
R6658:Dhx8	UTSW	11	101,655,748 (GRCm39)	missense	probably damaging	1.00
R6841:Dhx8	UTSW	11	101,655,618 (GRCm39)	missense	probably damaging	0.98
R6918:Dhx8	UTSW	11	101,629,247 (GRCm39)	nonsense	probably null
R7011:Dhx8	UTSW	11	101,632,346 (GRCm39)	missense	probably damaging	1.00
R7098:Dhx8	UTSW	11	101,628,594 (GRCm39)	critical splice donor site	probably null
R7153:Dhx8	UTSW	11	101,631,001 (GRCm39)	splice site	probably null
R7284:Dhx8	UTSW	11	101,645,648 (GRCm39)	missense	probably damaging	1.00
R7604:Dhx8	UTSW	11	101,655,623 (GRCm39)	missense	probably damaging	1.00
R8135:Dhx8	UTSW	11	101,629,090 (GRCm39)	missense	unknown
R8137:Dhx8	UTSW	11	101,654,808 (GRCm39)	missense	probably damaging	1.00
R8256:Dhx8	UTSW	11	101,631,588 (GRCm39)	missense	possibly damaging	0.93
R8284:Dhx8	UTSW	11	101,648,455 (GRCm39)	missense	probably damaging	1.00
R8289:Dhx8	UTSW	11	101,631,571 (GRCm39)	missense	probably benign	0.01
R8696:Dhx8	UTSW	11	101,623,958 (GRCm39)	missense	unknown
R9061:Dhx8	UTSW	11	101,632,406 (GRCm39)	missense	possibly damaging	0.61
R9076:Dhx8	UTSW	11	101,629,021 (GRCm39)	missense
R9443:Dhx8	UTSW	11	101,655,740 (GRCm39)	missense	probably damaging	1.00
R9492:Dhx8	UTSW	11	101,654,808 (GRCm39)	missense	possibly damaging	0.67
R9554:Dhx8	UTSW	11	101,645,614 (GRCm39)	nonsense	probably null
R9700:Dhx8	UTSW	11	101,624,015 (GRCm39)	critical splice donor site	probably null
R9780:Dhx8	UTSW	11	101,632,403 (GRCm39)	missense	possibly damaging	0.73
Z1177:Dhx8	UTSW	11	101,648,486 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07