Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4589:Dhx8'

511395

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

FR4589 ()

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

101732919-101767358 bp(+) (GRCm38)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CGAGAC to CGAGACAGAGAC at 101738188 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119430 (fasta)

Gene Model

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

AlphaFold

A2A4P0

Predicted Effect

probably benign
Transcript: ENSMUST00000039152

SMART Domains

Protein: ENSMUSP00000037251
Gene: ENSMUSG00000034931

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

probably benign
Transcript: ENSMUST00000129741

SMART Domains

Protein: ENSMUSP00000119430
Gene: ENSMUSG00000034931

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: 99.8%
3x: 99.5%
10x: 98.4%
20x: 96.1%

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: 126 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	TCC	TCCCCC	2: 130,770,745		probably benign	Het
4930402H24Rik	CC	CCTGC	2: 130,770,752		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,163,381		probably benign	Homo
Anxa2	C	CCCA	9: 69,480,210		probably benign	Het
Apol6	GTTT	GTTTTTTT	15: 77,051,438		probably null	Het
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
AY761185	CACTGTGGG	C	8: 20,943,903		probably null	Het
BC051142	GCA	GCACCA	17: 34,460,053		probably benign	Het
BC051142	AGC	AGCCGC	17: 34,460,073		probably benign	Het
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Blm	TACC	TACCGACC	7: 80,463,770		probably null	Het
Btnl10	AGA	AGAGGA	11: 58,923,929		probably benign	Homo
Btnl4	T	A	17: 34,472,636	K293M	probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,397,779		probably benign	Het
Cd109	ATTTAT	ATTTATTTATTTCTTTAT	9: 78,712,529		probably benign	Het
Cd164	G	T	10: 41,521,926	A59S	probably benign	Homo
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Chd4	C	T	6: 125,122,133	P1597L	probably benign	Homo
Chd4	CCCCTGCCCCTGCCACTGCCCCTGCC	CCCCTGCCCCTGCCCCTGCCACTGCCCCTGCC	6: 125,122,139		probably benign	Homo
Chga	AGC	AGCTGC	12: 102,561,402		probably benign	Het
Cluh	AGCC	AGCCTGGGCC	11: 74,669,531		probably benign	Het
Cnpy3	ACCC	ACCCCCC	17: 46,736,739		probably benign	Het
Cntnap1	CCCAGC	CCCAGCTCCAGC	11: 101,189,566		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,575		probably benign	Het
Cntnap1	CAGCCC	CAGCCCGAGCCC	11: 101,189,580		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Cttnbp2	ATT	ATTTCTGTT	6: 18,367,458		probably benign	Het
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,677		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,680		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,683		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dclre1a	AGGCTTTG	AG	19: 56,544,123		probably benign	Het
Dcpp1	A	C	17: 23,881,454	K53Q	probably benign	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dthd1	C	CTT	5: 62,843,026		probably null	Homo
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,764		probably benign	Het
Eps8	AC	ACTCGC	6: 137,517,069		probably null	Het
Ermn	TTC	TTCATC	2: 58,048,069		probably benign	Het
Fam81b	TC	TCTCC	13: 76,271,323		probably benign	Het
Fbrsl1	TG	TGCGTGTGCTGGCG	5: 110,378,150		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,100		probably benign	Het
Fbxo43	CCTGTG	CCTGTGTCTGTG	15: 36,152,101		probably benign	Het
Fmn1	CTCCTC	CTCCTCTTCCTC	2: 113,525,773		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	GCTCCGACTCCGACTCCG	GCTCCGACTCCGACTCCGACTCCG	X: 72,270,030		probably benign	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm10324	G	A	13: 66,122,208	S396N	probably benign	Het
Gm4340	AGC	AGCCGC	10: 104,196,079		probably benign	Het
Gm4340	AG	AGCCG	10: 104,196,100		probably benign	Het
Gm4340	CAG	CAGTAG	10: 104,196,078		probably null	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Ipo9	CCATC	CCATCATC	1: 135,386,266		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281		probably benign	Het
Isg20l2	GAAA	GAAAAAA	3: 87,931,717		probably benign	Homo
Klra9	C	G	6: 130,182,403	D216H	probably benign	Het
Kmt2b	TCC	TCCTCCGCC	7: 30,586,381		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,361		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364		probably null	Het
Krt10	TCC	TCCGCCGCC	11: 99,389,276		probably benign	Het
Las1l	TCTTCC	TCTTCCGCTTCC	X: 95,940,619		probably benign	Het
Las1l	TTCCTCCTCCTC	TTCCTC	X: 95,940,621		probably benign	Het
Las1l	TC	TCTTCCAC	X: 95,940,625		probably benign	Het
Lce1m	TGCTGCCACC	TGCTGCCACCACGGCTGCCACC	3: 93,018,268		probably benign	Homo
Lor	GCCGCCGCC	GC	3: 92,081,894		probably null	Het
Lrit3	AC	ACATCC	3: 129,803,913		probably null	Het
Lrrc63	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	14: 75,125,182		probably benign	Homo
Mapk7	GG	GGTGCTAG	11: 61,490,222		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,275,956		probably benign	Het
Nacad	GGGTCA	GGGTCATGGTCA	11: 6,599,753		probably benign	Het
Ndufc2	G	C	7: 97,400,290	M34I	probably benign	Het
Nphp3	CACG	C	9: 104,025,939		probably benign	Het
Nrg3	AG	AGCCTTTG	14: 38,397,266		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGATTTTGTTTT	4: 134,279,368		probably null	Homo
Pdik1l	TTTTGTTTT	TTTTGTTTTGTGTTTGTTTT	4: 134,279,369		probably null	Homo
Plekhs1	AC	ACCTCCCCCGAGGC	19: 56,479,863		probably benign	Het
Prag1	CCGC	CCGCCGC	8: 36,103,883		probably benign	Homo
Prtg	G	A	9: 72,856,865	R540Q	probably damaging	Het
Raet1d	T	TCCTCTCTGGTAG	10: 22,370,918		probably null	Homo
Rhbdf1	A	ATTTT	11: 32,214,391		probably benign	Het
Rps19	AAAATT	AAAATTGAAATT	7: 24,889,182		probably benign	Het
Rtbdn	GGCAGC	GGCAGCCGCAGC	8: 84,956,171		probably benign	Het
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Setd1a	CTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	CTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	7: 127,785,297		probably benign	Het
Shf	TCT	TCTGCT	2: 122,354,177		probably benign	Homo
Shroom4	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCA	X: 6,624,061		probably benign	Homo
Six3	CGG	CGGAGG	17: 85,621,365		probably benign	Het
Snx1	TCT	TCTCCT	9: 66,104,926		probably benign	Homo
Spag17	AGG	AGGGGG	3: 100,056,245		probably benign	Het
Spag17	GGA	GGATGA	3: 100,056,258		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Supt20	GCAGCA	GCAGCATCAGCA	3: 54,727,651		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,655		probably benign	Het
Supt20	A	AGCAGCT	3: 54,727,671		probably benign	Het
Tcof1	GGGTA	G	18: 60,828,650		probably benign	Homo
Tert	C	CAAGGGTGCG	13: 73,648,304		probably benign	Het
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Het
Tmed6	C	CTAGA	8: 107,061,598		probably null	Homo
Tob1	CA	CAGCAA	11: 94,214,477		probably null	Het
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Trcg1	AGCTCCTGTGTCTGT	A	9: 57,242,202		probably null	Homo
Trim16	A	AAGC	11: 62,820,695		probably benign	Homo
Tubgcp4	GTGA	G	2: 121,175,463		probably benign	Het
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,335,307		probably benign	Het
Ubtf	CTCTTC	CTCTTCTTC	11: 102,306,943		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Vars	GTGG	GTGGAGTCCTGGTTGG	17: 35,015,988		probably benign	Homo
Vmn2r52	C	T	7: 10,159,020	E731K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	TGTGCGAG	TGTGCGAGGAGTGCGAG	14: 75,323,597		probably benign	Het
Zc3h13	GTGCGAGAT	GTGCGAGATTTGCGAGAT	14: 75,323,598		probably benign	Het
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,323,592		probably benign	Homo
Zfhx3	CAGCA	CAGCAACAGAAGCA	8: 108,956,101		probably benign	Het
Zfp282	GGC	GGCAGC	6: 47,904,791		probably benign	Het
Zfp459	GA	GAGTTA	13: 67,408,275		probably null	Homo
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,779		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,468		probably benign	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
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
R4667:Dhx8	UTSW	11	101738161	missense	unknown
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'- GGACTCTGACTTCTGCTCCTAG -3'

Sequencing Primer
(F):5'- GTCCAGTTAAGAAGTTAGAGGTTCC -3'
(R):5'- AGATCTGTATCTAGATTTCCCCTTAG -3'

Posted On

2018-04-05