Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4342:Dhx8'

511280

Institutional Source

Beutler Lab

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 #

FR4342 ()

Quality Score

148.467

Status

Not validated

Chromosome

Chromosomal Location

101623782-101658184 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CG to CGAGAACGG at 101629032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119430 (fasta)

Gene Model

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

AlphaFold

A2A4P0

Predicted Effect

probably null
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 null
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: 99.7%
3x: 99.4%
10x: 97.8%
20x: 93.8%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	TT	TTATGT	8: 125,566,572 (GRCm39)		probably null	Homo
4930433I11Rik	AACC	A	7: 40,642,479 (GRCm39)		probably benign	Het
7530416G11Rik	T	A	15: 85,378,508 (GRCm39)	E45V	unknown	Homo
Ankrd35	TCCCC	TCCC	3: 96,590,831 (GRCm39)		probably null	Het
Anxa2	CCC	CCCACC	9: 69,387,487 (GRCm39)		probably benign	Het
Anxa2	C	CCCA	9: 69,387,492 (GRCm39)		probably benign	Het
Apc	CAATAAAGC	CAATAAAGCAAATAAAGC	18: 34,415,052 (GRCm39)		probably benign	Homo
Arrb2	C	T	11: 70,329,497 (GRCm39)	T269M	probably damaging	Homo
Bcas3	G	A	11: 85,400,323 (GRCm39)	V431I	probably benign	Homo
Begain	CCCCGCC	CCCCGCCCCCGCC	12: 108,999,344 (GRCm39)		probably benign	Homo
Catsper2	TCA	TCAACA	2: 121,228,274 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Homo
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Homo
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Homo
Cimip2b	CAGAG	CAG	4: 43,427,384 (GRCm39)		probably null	Homo
Cluh	GAGCCT	GAGCCTCAGCCT	11: 74,560,350 (GRCm39)		probably benign	Het
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,560,352 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,401 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Col6a5	A	T	9: 105,811,373 (GRCm39)	N715K	unknown	Homo
Cpeb4	T	TGA	11: 31,877,638 (GRCm39)		probably benign	Homo
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,465,733 (GRCm39)		probably benign	Het
Defa29	C	G	8: 21,816,160 (GRCm39)	R69P	probably benign	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,662 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Homo
Dthd1	C	CTTA	5: 63,000,369 (GRCm39)		probably benign	Homo
E4f1	GC	GCCCC	17: 24,674,171 (GRCm39)		probably benign	Het
F830016B08Rik	A	ACAG	18: 60,433,013 (GRCm39)		probably benign	Homo
Fbrsl1	GTGTGTGTGCTGGTGCGTGTGCTGGTG	GTGTGTGTGCTGGTGTGTGTGCTGGTGCGTGTGCTGGTG	5: 110,525,991 (GRCm39)		probably benign	Het
Fbxo22	A	C	9: 55,128,354 (GRCm39)		probably null	Het
Flg	G	A	3: 93,197,820 (GRCm39)		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,356,128 (GRCm39)		probably benign	Homo
Frmpd2	G	T	14: 33,232,978 (GRCm39)	L399F	probably damaging	Homo
Gbp2b	A	G	3: 142,309,413 (GRCm39)	I175V	probably benign	Het
Gjc2	T	TCCCG	11: 59,073,569 (GRCm39)		probably benign	Homo
Gm14496	A	C	2: 181,637,699 (GRCm39)	K258Q	probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,960 (GRCm39)		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,031,927 (GRCm39)		probably benign	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 79,149,607 (GRCm39)		probably benign	Het
H1f6	TGTGG	TG	13: 23,879,896 (GRCm39)		probably benign	Homo
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Homo
Hoxa3	G	GCTT	6: 52,147,110 (GRCm39)		probably benign	Homo
Ifi208	ATGGTG	ATG	1: 173,505,264 (GRCm39)		probably benign	Homo
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Homo
Klra10	G	A	6: 130,249,710 (GRCm39)	R192C	probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,800 (GRCm39)		probably benign	Het
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)		probably benign	Het
Krt10	ACC	ACCCCC	11: 99,277,029 (GRCm39)		probably benign	Homo
Lce1m	CGCTGCTGCTGCCACAGCA	C	3: 92,925,554 (GRCm39)		probably benign	Het
Mak16	T	G,A	8: 31,651,777 (GRCm39)	E203D	probably benign	Homo
Med12l	AGC	AGCGGC	3: 59,183,409 (GRCm39)		probably benign	Het
Med12l	AGCGGC	AGCGGCGGC	3: 59,183,415 (GRCm39)		probably benign	Het
Mn1	AGC	AGCGGC	5: 111,567,572 (GRCm39)		probably benign	Het
Nacad	TC	TCAGGGGC	11: 6,549,762 (GRCm39)		probably benign	Het
Naip1	C	T	13: 100,561,979 (GRCm39)	R1062K	probably benign	Het
Ndel1	G	A	11: 68,724,235 (GRCm39)	P246L	probably damaging	Het
Nelfe	AC	ACAAAGAGCGGGATCGAGACAGAGCC	17: 35,073,065 (GRCm39)		probably benign	Het
Or51q1	TCC	TCCC	7: 103,629,110 (GRCm39)		probably null	Het
Or5p70	A	G	7: 107,995,100 (GRCm39)	T258A	probably benign	Het
Or5p70	G	A	7: 107,995,105 (GRCm39)	M259I	probably benign	Het
P4ha2	GTGTTGCTG	GTG	11: 54,001,077 (GRCm39)		probably benign	Homo
Pde3b	GGTGGTGGTG	GGTGGTGGTGGTG	7: 114,134,010 (GRCm39)		probably benign	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,820 (GRCm39)		probably benign	Homo
Phaf1	G	A	8: 105,967,730 (GRCm39)	G207E	probably benign	Homo
Plekhs1	AGAC	AGACCTCCCCCGCGAC	19: 56,468,293 (GRCm39)		probably benign	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,468,290 (GRCm39)		probably benign	Homo
Pramel16	AAGAG	AAG	4: 143,676,327 (GRCm39)		probably null	Het
Pramel16	G	A	4: 143,676,312 (GRCm39)	T264M	probably damaging	Het
Pramel27	AA	AATA	4: 143,578,213 (GRCm39)		probably null	Homo
Prkn	G	A	17: 12,073,650 (GRCm39)	V323M	probably damaging	Homo
Ptms	TCT	TCTCCT	6: 124,891,417 (GRCm39)		probably benign	Homo
Raet1d	A	G	10: 22,247,458 (GRCm39)	Q178R	probably benign	Het
Rtbdn	AGCG	AGCGCCGGCG	8: 85,682,797 (GRCm39)		probably benign	Het
Rtbdn	GC	GCAGCGCC	8: 85,682,807 (GRCm39)		probably benign	Het
Semp2l2a	G	C	8: 13,887,613 (GRCm39)	H159Q	probably benign	Het
Serac1	T	A	17: 6,121,083 (GRCm39)	K70N	probably damaging	Homo
Sfswap	CCCACTC	CCCACTCAGACCACTC	5: 129,646,821 (GRCm39)		probably benign	Homo
Sp110	ACT	ACTGCT	1: 85,515,209 (GRCm39)		probably benign	Het
Spaca1	GCTCTC	GCTCTCACTCTC	4: 34,049,838 (GRCm39)		probably benign	Het
Spag17	GGA	GGATGA	3: 99,963,565 (GRCm39)		probably benign	Het
Spag17	GGAGGAGGA	GGAGGAGGAGGA	3: 99,963,568 (GRCm39)		probably benign	Homo
Speer4a1	C	A	5: 26,241,746 (GRCm39)	E127*	probably null	Het
Sry	GGT	GGTTGT	Y: 2,662,836 (GRCm39)		probably benign	Het
Sry	TGG	TGGGGG	Y: 2,662,835 (GRCm39)		probably benign	Het
Sry	CTGCTGGTG	CTG	Y: 2,663,146 (GRCm39)		probably benign	Het
Sry	GGT	GGTAGT	Y: 2,662,839 (GRCm39)		probably benign	Homo
Tdpoz3	C	T	3: 93,733,819 (GRCm39)	P165S	probably benign	Het
Tdpoz4	GAA	GA	3: 93,704,187 (GRCm39)		probably null	Het
Tert	AGGCC	AGGCCAAGGGGGCC	13: 73,796,419 (GRCm39)		probably benign	Homo
Tmbim7	C	T	5: 3,720,064 (GRCm39)	R100C	possibly damaging	Homo
Tnfrsf9	CT	CTGAT	4: 151,018,851 (GRCm39)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,105,298 (GRCm39)		probably benign	Het
Trav6n-5	GCTT	G	14: 53,342,369 (GRCm39)		probably benign	Homo
Triobp	G	GTCA	15: 78,877,592 (GRCm39)		probably benign	Homo
Tsen2	AGG	AGGTGG	6: 115,537,033 (GRCm39)		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,197,782 (GRCm39)		probably benign	Het
Ubtf	TC	TCCCC	11: 102,197,785 (GRCm39)		probably benign	Het
Vmn2r125	G	A	4: 156,703,260 (GRCm39)	V213I	probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Homo
Zdhhc16	G	A	19: 41,930,588 (GRCm39)		probably benign	Het
Zfp28	G	A	7: 6,397,862 (GRCm39)	G766R	probably damaging	Het
Zfp335	GTCGTC	GTCGTCGTC	2: 164,749,385 (GRCm39)		probably benign	Het
Zfp335	C	CCCC	2: 164,749,397 (GRCm39)		probably benign	Het
Zfp428	G	A	7: 24,214,506 (GRCm39)	D41N	probably damaging	Homo
Zfp429	A	T	13: 67,544,769 (GRCm39)	F48Y	probably benign	Het
Zfp598	CCACC	CCACCCACACC	17: 24,899,754 (GRCm39)		probably benign	Het
Zfp93	G	A	7: 23,975,011 (GRCm39)	R332H	possibly damaging	Het
Zpld2	G	GCTC	4: 133,929,942 (GRCm39)		probably benign	Homo

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
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

Predicted Primers

PCR Primer
(F):5'- TACGGAGTGACACTGTCCTG -3'
(R):5'- TATCCCGCCATCTGTCCAAG -3'

Sequencing Primer
(F):5'- AGTGACACTGTCCTGGGTGC -3'
(R):5'- CCGATCTTTGAAGGGACTCTGAC -3'

Posted On

2018-04-05