Mutagenetix > Incidental Mutation

Incidental Mutation 'R4667:Dhx8'

352071

Institutional Source

Beutler Lab

Gene Symbol

Dhx8

Ensembl Gene

ENSMUSG00000034931

Gene Name

DEAH (Asp-Glu-Ala-His) box polypeptide 8

Synonyms

RNA helicase, Ddx8, mDEAH6

MMRRC Submission

042012-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4667 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101732919-101767358 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101738161 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 179 (S179G)

Ref Sequence

ENSEMBL: ENSMUSP00000037251 (fasta)

Gene Model

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

AlphaFold

A2A4P0

Predicted Effect

unknown
Transcript: ENSMUST00000039152
AA Change: S179G

SMART Domains

Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931
AA Change: S179G

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

unknown
Transcript: ENSMUST00000129741
AA Change: S126G

SMART Domains

Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931
AA Change: S126G

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: ENSMUST00000156842

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.1%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	G	T	17: 28,908,313	Q241K	possibly damaging	Het
Acad8	A	G	9: 26,990,627	L147P	probably damaging	Het
Adgra3	T	A	5: 49,978,956	Y729F	possibly damaging	Het
Ago2	A	G	15: 73,146,416	Y58H	probably damaging	Het
Akap13	A	G	7: 75,729,094	T2128A	probably damaging	Het
Akap2	A	T	4: 57,855,655	D328V	possibly damaging	Het
Ankhd1	C	A	18: 36,648,021	P2042Q	possibly damaging	Het
Arhgef15	T	C	11: 68,954,561	K155R	probably benign	Het
Atp10b	T	C	11: 43,247,518	F1209L	probably damaging	Het
B130006D01Rik	A	T	11: 95,726,509		probably benign	Het
Bmpr2	T	C	1: 59,867,716	L656S	probably damaging	Het
Btbd17	A	G	11: 114,793,857	F119L	possibly damaging	Het
Ccdc191	G	T	16: 43,931,283	K267N	probably damaging	Het
Ceacam20	T	C	7: 19,986,027	Y495H	probably damaging	Het
Celf2	T	C	2: 6,721,528	I47V	probably benign	Het
Chd9	T	C	8: 91,033,800	S2058P	possibly damaging	Het
Clcn6	T	C	4: 148,024,167	E135G	possibly damaging	Het
Cntn1	T	A	15: 92,295,079	N687K	probably damaging	Het
Col1a2	A	T	6: 4,512,412	M99L	unknown	Het
Cpeb2	T	C	5: 43,233,892		probably benign	Het
Csn1s2b	A	G	5: 87,822,311	T134A	possibly damaging	Het
Cst13	A	T	2: 148,823,081		probably benign	Het
Cyp2c66	T	A	19: 39,176,656	D360E	probably damaging	Het
Dip2b	A	G	15: 100,151,360	I212V	probably benign	Het
Dnah9	G	A	11: 66,155,531	H64Y	probably benign	Het
Dnal1	T	C	12: 84,136,700		probably benign	Het
Dse	T	G	10: 34,153,012	Y694S	probably damaging	Het
Dync2h1	T	C	9: 7,051,411	I3175V	probably benign	Het
Elf5	A	G	2: 103,449,060	N209D	probably damaging	Het
Elovl1	A	G	4: 118,430,787	Y40C	probably damaging	Het
Erp27	T	C	6: 136,908,152	E216G	possibly damaging	Het
F5	G	A	1: 164,174,186	V153I	probably benign	Het
Fam186a	G	A	15: 99,944,532	T1277I	possibly damaging	Het
Fam90a1a	A	T	8: 21,963,346	H239L	possibly damaging	Het
Fchsd2	G	T	7: 101,250,449	R334L	probably damaging	Het
Fermt3	T	C	19: 7,002,920	Y369C	probably damaging	Het
Fhod3	C	T	18: 25,066,338	P689S	probably benign	Het
Fnbp1l	G	T	3: 122,556,567	Q332K	probably benign	Het
Frem3	T	C	8: 80,663,420	S1767P	probably damaging	Het
Ggt5	T	C	10: 75,603,031	L121P	probably damaging	Het
Gm609	A	G	16: 45,444,163	S11P	probably benign	Het
Gphn	T	C	12: 78,454,817	S119P	probably damaging	Het
Herc2	A	G	7: 56,131,253	D1222G	probably damaging	Het
Hmx3	T	C	7: 131,544,382	I273T	possibly damaging	Het
Hnrnpu	A	G	1: 178,332,181		probably benign	Het
Hspg2	C	T	4: 137,539,645	T1987I	possibly damaging	Het
Ighv1-22	T	A	12: 114,746,451	Q58L	probably damaging	Het
Ighv14-3	T	A	12: 114,060,255	I7F	probably benign	Het
Kcns3	C	A	12: 11,091,783	R305L	probably damaging	Het
Kcnu1	C	T	8: 25,910,921	A699V	possibly damaging	Het
Kif22	A	C	7: 127,033,328	L270W	probably damaging	Het
Lrp2	G	T	2: 69,489,298	H1960Q	probably benign	Het
March7	C	T	2: 60,241,050	Q94*	probably null	Het
Mcoln3	A	T	3: 146,131,204	I264F	probably benign	Het
Mdn1	A	C	4: 32,679,572	T706P	probably damaging	Het
Mfsd2b	A	G	12: 4,867,636	C137R	probably benign	Het
Mmp25	A	G	17: 23,644,607	V83A	probably benign	Het
Mocos	T	C	18: 24,666,434	Y242H	probably benign	Het
Msh6	T	C	17: 87,984,806	S330P	possibly damaging	Het
Mtus2	T	C	5: 148,298,260	S1156P	possibly damaging	Het
Muc5b	G	A	7: 141,842,379	R124H	unknown	Het
Mybbp1a	G	A	11: 72,447,971	E775K	possibly damaging	Het
Myo10	A	G	15: 25,793,153	E1272G	possibly damaging	Het
Nars	A	G	18: 64,505,231	S254P	possibly damaging	Het
Ncapd2	A	G	6: 125,184,518	I211T	possibly damaging	Het
Ncoa7	A	T	10: 30,690,790	W582R	probably damaging	Het
Npr3	T	A	15: 11,905,467	D58V	possibly damaging	Het
Nr3c1	G	T	18: 39,428,727	T430K	probably benign	Het
Odf2l	A	G	3: 145,128,040	T111A	probably benign	Het
Ogdh	G	T	11: 6,340,600	C406F	probably benign	Het
Olfml2a	T	G	2: 38,949,010	S190A	probably damaging	Het
Olfr148	T	C	9: 39,613,738	M57T	probably damaging	Het
Olfr243	A	G	7: 103,716,638	T15A	probably benign	Het
Olfr870	T	C	9: 20,171,098	I158V	probably benign	Het
Olfr965	G	T	9: 39,719,709	V161F	probably benign	Het
Optn	T	C	2: 5,033,139	K415E	probably benign	Het
Perm1	C	A	4: 156,220,206	S803*	probably null	Het
Pex14	T	C	4: 148,984,085	T84A	probably benign	Het
Pih1d2	T	A	9: 50,620,952	Y103*	probably null	Het
Pikfyve	T	A	1: 65,250,273	C1235S	probably damaging	Het
Polr1a	A	G	6: 71,917,821	N171S	probably benign	Het
Prrx1	A	G	1: 163,254,047	S201P	probably benign	Het
Psme2b	A	T	11: 48,945,666	N151K	probably benign	Het
Serpinb5	A	T	1: 106,872,295	T72S	probably benign	Het
Sgsm1	A	G	5: 113,260,047		probably null	Het
Sipa1l2	T	C	8: 125,453,470	R1063G	possibly damaging	Het
Slc19a3	T	C	1: 83,022,799	T166A	probably benign	Het
Slc5a4b	T	C	10: 76,075,045	Y319C	possibly damaging	Het
Stard3nl	T	A	13: 19,376,519	N29Y	probably damaging	Het
Sult6b2	G	T	6: 142,801,695	C109*	probably null	Het
Tcf25	A	G	8: 123,397,025	E467G	possibly damaging	Het
Tmem177	A	T	1: 119,910,220	V243D	probably benign	Het
Tmem2	G	A	19: 21,797,351	R119H	probably benign	Het
Tmem2	C	T	19: 21,844,781	A1180V	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tspan11	T	A	6: 127,943,715	C208*	probably null	Het
Ttc1	A	G	11: 43,745,317	V33A	probably benign	Het
Uck1	T	A	2: 32,256,034	H283L	probably damaging	Het
Utrn	A	C	10: 12,698,053	V1091G	probably benign	Het
Vmn1r11	A	T	6: 57,137,498	H49L	probably damaging	Het
Vmn1r160	G	T	7: 22,872,053	S277I	probably benign	Het
Vmn1r18	A	T	6: 57,390,084	S162T	probably benign	Het
Vps37b	A	G	5: 124,010,732	L80P	probably damaging	Het
Wfdc3	T	C	2: 164,743,086	M1V	probably null	Het
Wrn	A	T	8: 33,324,338	N116K	probably benign	Het
Wscd2	G	T	5: 113,577,272	G391V	probably damaging	Het
Zcchc11	G	A	4: 108,495,159	E357K	probably damaging	Het
Zfp286	A	G	11: 62,780,602	V215A	probably benign	Het
Zfp568	A	G	7: 30,023,277	H549R	probably damaging	Het

Other mutations in Dhx8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01922:Dhx8	APN	11	101739807	missense	probably damaging	0.99
IGL01957:Dhx8	APN	11	101754826	missense	possibly damaging	0.48
IGL02039:Dhx8	APN	11	101764027	critical splice donor site	probably null
IGL02115:Dhx8	APN	11	101752388	missense	probably damaging	1.00
IGL02161:Dhx8	APN	11	101757606	missense	probably damaging	1.00
IGL02691:Dhx8	APN	11	101752004	splice site	probably benign
IGL02697:Dhx8	APN	11	101754781	missense	probably damaging	1.00
FR4304:Dhx8	UTSW	11	101738188	small insertion	probably benign
FR4342:Dhx8	UTSW	11	101738206	frame shift	probably null
FR4449:Dhx8	UTSW	11	101738184	small insertion	probably benign
FR4449:Dhx8	UTSW	11	101738190	small deletion	probably benign
FR4449:Dhx8	UTSW	11	101738194	small insertion	probably benign
FR4449:Dhx8	UTSW	11	101738206	small insertion	probably benign
FR4449:Dhx8	UTSW	11	101738207	small insertion	probably benign
FR4589:Dhx8	UTSW	11	101738188	small insertion	probably benign
FR4737:Dhx8	UTSW	11	101738179	small insertion	probably benign
FR4737:Dhx8	UTSW	11	101738182	small insertion	probably benign
FR4737:Dhx8	UTSW	11	101738189	small insertion	probably benign
R0402:Dhx8	UTSW	11	101752397	missense	probably damaging	1.00
R0525:Dhx8	UTSW	11	101763928	missense	probably damaging	1.00
R0969:Dhx8	UTSW	11	101739700	splice site	probably benign
R1497:Dhx8	UTSW	11	101735387	intron	probably benign
R1576:Dhx8	UTSW	11	101752319	missense	probably damaging	1.00
R1758:Dhx8	UTSW	11	101766738	missense	probably damaging	1.00
R1773:Dhx8	UTSW	11	101752363	missense	possibly damaging	0.87
R1941:Dhx8	UTSW	11	101752198	critical splice donor site	probably null
R1954:Dhx8	UTSW	11	101753279	missense	probably damaging	0.98
R2124:Dhx8	UTSW	11	101762245	missense	probably damaging	0.99
R2128:Dhx8	UTSW	11	101738409	missense	probably benign	0.06
R2148:Dhx8	UTSW	11	101738377	nonsense	probably null
R2206:Dhx8	UTSW	11	101750971	missense	probably benign	0.03
R2207:Dhx8	UTSW	11	101750971	missense	probably benign	0.03
R4678:Dhx8	UTSW	11	101739808	missense	probably damaging	1.00
R4825:Dhx8	UTSW	11	101738170	nonsense	probably null
R4943:Dhx8	UTSW	11	101737700	nonsense	probably null
R5341:Dhx8	UTSW	11	101738190	small deletion	probably benign
R5586:Dhx8	UTSW	11	101733036	unclassified	probably benign
R5662:Dhx8	UTSW	11	101766758	missense	possibly damaging	0.89
R5664:Dhx8	UTSW	11	101740751	missense	probably damaging	1.00
R6082:Dhx8	UTSW	11	101764313	missense	probably damaging	1.00
R6085:Dhx8	UTSW	11	101764313	missense	probably damaging	1.00
R6415:Dhx8	UTSW	11	101737687	missense	unknown
R6658:Dhx8	UTSW	11	101764922	missense	probably damaging	1.00
R6841:Dhx8	UTSW	11	101764792	missense	probably damaging	0.98
R6918:Dhx8	UTSW	11	101738421	nonsense	probably null
R7011:Dhx8	UTSW	11	101741520	missense	probably damaging	1.00
R7098:Dhx8	UTSW	11	101737768	critical splice donor site	probably null
R7153:Dhx8	UTSW	11	101740175	splice site	probably null
R7284:Dhx8	UTSW	11	101754822	missense	probably damaging	1.00
R7604:Dhx8	UTSW	11	101764797	missense	probably damaging	1.00
R8135:Dhx8	UTSW	11	101738264	missense	unknown
R8137:Dhx8	UTSW	11	101763982	missense	probably damaging	1.00
R8256:Dhx8	UTSW	11	101740762	missense	possibly damaging	0.93
R8284:Dhx8	UTSW	11	101757629	missense	probably damaging	1.00
R8289:Dhx8	UTSW	11	101740745	missense	probably benign	0.01
R8696:Dhx8	UTSW	11	101733132	missense	unknown
R9061:Dhx8	UTSW	11	101741580	missense	possibly damaging	0.61
R9076:Dhx8	UTSW	11	101738195	missense
R9443:Dhx8	UTSW	11	101764914	missense	probably damaging	1.00
R9492:Dhx8	UTSW	11	101763982	missense	possibly damaging	0.67
R9554:Dhx8	UTSW	11	101754788	nonsense	probably null
R9700:Dhx8	UTSW	11	101733189	critical splice donor site	probably null
R9780:Dhx8	UTSW	11	101741577	missense	possibly damaging	0.73
Z1177:Dhx8	UTSW	11	101757660	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTATGTCATTACTGGCCTGTGG -3'
(R):5'- GAAGGGACTCTGACTTCTGCTC -3'

Sequencing Primer
(F):5'- GGGATTGTGGTCCAGTTAAGAAG -3'
(R):5'- CTCTCCCGGGTTCTAGAATGTGAC -3'

Posted On

2015-10-08