Mutagenetix > Incidental Mutation

Incidental Mutation 'R1954:Dhx8'

217585

Institutional Source

Beutler Lab

Gene Symbol

Dhx8

Ensembl Gene

ENSMUSG00000034931

Gene Name

DEAH-box helicase 8

Synonyms

RNA helicase, Ddx8, mDEAH6

MMRRC Submission

039968-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101623782-101658184 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101644105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 842 (S842G)

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: S842G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: S842G

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

probably benign
Transcript: ENSMUST00000129741
AA Change: S789G

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: S789G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141461

Meta Mutation Damage Score

0.2167

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (101/104)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	T	A	9: 30,822,004 (GRCm39)	M478L	probably benign	Het
Akap8l	T	A	17: 32,555,710 (GRCm39)	Y123F	possibly damaging	Het
Anapc4	T	G	5: 53,003,967 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,115,055 (GRCm39)	V987A	probably damaging	Het
Atp2b4	T	A	1: 133,667,730 (GRCm39)	T105S	probably damaging	Het
Atp6v0d1	A	G	8: 106,292,525 (GRCm39)	L7P	probably damaging	Het
Atp6v1b2	T	C	8: 69,558,555 (GRCm39)	V341A	possibly damaging	Het
Baz2b	C	A	2: 59,799,087 (GRCm39)	A346S	probably benign	Het
Brpf3	G	A	17: 29,025,533 (GRCm39)	S202N	probably benign	Het
Btnl4	T	C	17: 34,691,904 (GRCm39)	K233E	possibly damaging	Het
Capn7	A	G	14: 31,082,107 (GRCm39)	T438A	probably damaging	Het
Cars2	A	T	8: 11,600,286 (GRCm39)	Y68N	probably damaging	Het
Cbx2	G	T	11: 118,919,166 (GRCm39)	G244W	probably damaging	Het
Ccr4	A	T	9: 114,321,753 (GRCm39)	V104D	probably damaging	Het
Cdc5l	T	C	17: 45,737,442 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,583,950 (GRCm39)	C810S	probably benign	Het
Cfap299	A	T	5: 98,714,612 (GRCm39)		probably benign	Het
Clp1	T	C	2: 84,554,395 (GRCm39)	D258G	probably damaging	Het
Clstn3	T	C	6: 124,436,257 (GRCm39)	E164G	possibly damaging	Het
Col28a1	T	C	6: 7,998,516 (GRCm39)	E1131G	probably damaging	Het
Cps1	A	G	1: 67,234,355 (GRCm39)	D914G	possibly damaging	Het
Ctnnal1	C	T	4: 56,817,242 (GRCm39)		probably benign	Het
Cyp2c38	A	G	19: 39,393,131 (GRCm39)	L312P	probably damaging	Het
Cytip	T	C	2: 58,038,265 (GRCm39)	N99D	possibly damaging	Het
Dennd4a	A	T	9: 64,759,749 (GRCm39)	T285S	probably benign	Het
Disp1	A	T	1: 182,870,107 (GRCm39)	M771K	probably damaging	Het
Dnah17	A	G	11: 117,915,557 (GRCm39)	I4326T	probably damaging	Het
Efcab7	T	C	4: 99,757,887 (GRCm39)	F345L	probably damaging	Het
Erc1	G	T	6: 119,774,266 (GRCm39)	Q230K	probably damaging	Het
Ern1	A	T	11: 106,312,800 (GRCm39)		probably benign	Het
Espl1	T	C	15: 102,206,823 (GRCm39)	Y96H	probably damaging	Het
Fam135a	A	T	1: 24,068,683 (GRCm39)	L533I	probably damaging	Het
Fat2	G	A	11: 55,201,910 (GRCm39)	T388I	probably benign	Het
Galnt1	T	G	18: 24,404,831 (GRCm39)		probably benign	Het
Glmn	A	G	5: 107,720,243 (GRCm39)	F212S	probably damaging	Het
Gm3604	A	T	13: 62,517,025 (GRCm39)	N444K	probably damaging	Het
Gvin-ps5	A	C	7: 105,928,888 (GRCm39)	D336E	probably damaging	Het
H1f2	T	C	13: 23,923,385 (GRCm39)	V185A	unknown	Het
H1f3	A	G	13: 23,739,690 (GRCm39)		probably benign	Het
H2-M10.3	T	C	17: 36,678,390 (GRCm39)	D145G	probably damaging	Het
Hic2	T	A	16: 17,076,857 (GRCm39)	L562Q	probably damaging	Het
Hip1r	G	T	5: 124,139,907 (GRCm39)	E1003D	probably damaging	Het
Hsfy2	C	T	1: 56,676,342 (GRCm39)	C65Y	probably benign	Het
Inpp1	T	C	1: 52,833,788 (GRCm39)	T103A	probably damaging	Het
Ints5	T	C	19: 8,872,260 (GRCm39)	V73A	probably damaging	Het
Iqch	A	T	9: 63,455,298 (GRCm39)	D166E	probably benign	Het
Klhdc3	A	T	17: 46,988,901 (GRCm39)	N96K	probably damaging	Het
Klk1b8	C	T	7: 43,603,272 (GRCm39)		probably benign	Het
Klrb1	T	C	6: 128,700,036 (GRCm39)		probably null	Het
Krt71	C	A	15: 101,643,901 (GRCm39)	G446*	probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lemd3	G	T	10: 120,814,845 (GRCm39)	S129R	probably damaging	Het
Lrp1b	A	G	2: 40,748,453 (GRCm39)	L3015P	probably damaging	Het
Mdga2	T	C	12: 66,533,482 (GRCm39)		probably benign	Het
Mlst8	A	T	17: 24,696,195 (GRCm39)	I178N	probably damaging	Het
Mon2	A	T	10: 122,874,388 (GRCm39)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,356,464 (GRCm39)	Y436C	probably damaging	Het
Moxd1	T	A	10: 24,155,781 (GRCm39)	M295K	probably benign	Het
Mrps5	T	A	2: 127,438,817 (GRCm39)		probably null	Het
Mtor	C	A	4: 148,552,730 (GRCm39)	S744R	probably damaging	Het
Myo3a	T	A	2: 22,246,037 (GRCm39)	D61E	probably damaging	Het
Nars1	C	T	18: 64,633,635 (GRCm39)	R545Q	probably damaging	Het
Ncoa6	A	G	2: 155,248,741 (GRCm39)	V1521A	possibly damaging	Het
Ndor1	T	C	2: 25,145,305 (GRCm39)	E20G	possibly damaging	Het
Nipsnap3b	T	C	4: 53,017,213 (GRCm39)		probably benign	Het
Notch3	G	T	17: 32,385,652 (GRCm39)	A39E	probably benign	Het
Or1j16	A	G	2: 36,530,227 (GRCm39)	M59V	possibly damaging	Het
Or2a14	T	C	6: 43,130,911 (GRCm39)	I224T	possibly damaging	Het
Or6z3	G	T	7: 6,464,144 (GRCm39)	W212L	probably benign	Het
Otud3	T	C	4: 138,625,343 (GRCm39)	K237R	possibly damaging	Het
Papola	T	A	12: 105,794,532 (GRCm39)		probably null	Het
Parl	T	A	16: 20,121,077 (GRCm39)	M1L	possibly damaging	Het
Parp14	G	T	16: 35,678,671 (GRCm39)	N432K	probably benign	Het
Patz1	T	G	11: 3,241,088 (GRCm39)	S159A	probably damaging	Het
Prpf6	T	G	2: 181,273,870 (GRCm39)	M338R	probably benign	Het
Psd3	A	G	8: 68,149,727 (GRCm39)	L343P	probably damaging	Het
Ptpn23	A	T	9: 110,215,393 (GRCm39)	N1422K	probably damaging	Het
Rab19	A	T	6: 39,361,016 (GRCm39)	T55S	probably benign	Het
Sh3yl1	A	G	12: 30,972,332 (GRCm39)	K34E	possibly damaging	Het
Skint8	T	A	4: 111,807,278 (GRCm39)	F321L	possibly damaging	Het
Slc25a46	A	T	18: 31,733,294 (GRCm39)		probably null	Het
Slc26a3	T	C	12: 31,500,815 (GRCm39)	L184S	probably damaging	Het
Slc39a10	A	T	1: 46,874,334 (GRCm39)	S323T	possibly damaging	Het
Sorbs2	G	T	8: 46,198,775 (GRCm39)	R20L	probably benign	Het
Stk32a	A	T	18: 43,345,090 (GRCm39)	D13V	probably benign	Het
Tab2	T	C	10: 7,795,094 (GRCm39)	T463A	probably damaging	Het
Tenm2	T	A	11: 35,938,374 (GRCm39)	N1433I	possibly damaging	Het
Tmem200c	A	T	17: 69,147,956 (GRCm39)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,791,482 (GRCm39)	H129N	probably benign	Het
Tmem242	T	C	17: 5,489,854 (GRCm39)	T47A	possibly damaging	Het
Ube2d1	A	T	10: 71,120,953 (GRCm39)	M1K	probably null	Het
Ube2frt	A	G	12: 36,140,595 (GRCm39)		probably benign	Het
Uckl1	T	C	2: 181,212,320 (GRCm39)	Q332R	probably benign	Het
Unc5b	T	C	10: 60,605,044 (GRCm39)		probably benign	Het
Vmn2r114	T	C	17: 23,530,086 (GRCm39)	Y107C	probably benign	Het
Vmn2r82	A	T	10: 79,231,890 (GRCm39)	S630C	probably damaging	Het
Wdr25	T	A	12: 108,864,467 (GRCm39)	V204E	probably damaging	Het
Xab2	T	A	8: 3,666,094 (GRCm39)	D227V	probably damaging	Het
Zfp286	A	G	11: 62,674,534 (GRCm39)	S104P	possibly damaging	Het
Zfp345	T	C	2: 150,316,741 (GRCm39)	D22G	probably damaging	Het

Other mutations in Dhx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01922:Dhx8	APN	11	101,630,633 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- CCAGAGACAGTGAATGACGT -3'
(R):5'- GTCACCATGCCCAGCTGAAA -3'

Sequencing Primer
(F):5'- GAATGACGTTTCACTCTCTTCCTAGG -3'
(R):5'- GTACTTGTCTTAAAAGTCTGAAGACC -3'

Posted On

2014-08-01