Mutagenetix > Incidental Mutations

Incidental Mutation 'R1867:Ddx11'

208888

Institutional Source

Beutler Lab

Gene Symbol

Ddx11

Ensembl Gene

ENSMUSG00000035842

Gene Name

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11

Synonyms

CHL1, 4732462I11Rik, CHLR1, essa15a, KRG2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66123520-66152174 bp(+) (GRCm38)

Type of Mutation

splice site (30 bp from exon)

DNA Base Change (assembly)

G to A at 66135939 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903]

Predicted Effect

probably null
Transcript: ENSMUST00000163605

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842

Domain	Start	End	E-Value	Type
DEXDc	11	408	1.14e-153	SMART
Blast:DEXDc2	430	479	6e-14	BLAST
HELICc	682	839	1.4e-66	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223805

Predicted Effect

probably null
Transcript: ENSMUST00000224497

Predicted Effect

probably benign
Transcript: ENSMUST00000224903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,000,217	M1K	probably null	Het
Abca4	T	A	3: 122,105,361	I664N	probably damaging	Het
Acin1	T	C	14: 54,644,261	D335G	probably damaging	Het
Acoxl	A	G	2: 127,877,787	Y156C	probably damaging	Het
Adamts20	A	G	15: 94,338,459	F844L	probably benign	Het
Ago1	A	G	4: 126,441,236	Y398H	probably damaging	Het
Aldob	A	G	4: 49,543,835	V49A	possibly damaging	Het
Arhgap18	A	G	10: 26,846,030	E71G	probably damaging	Het
Asb12	G	T	X: 95,470,344	H307N	probably damaging	Het
Atp2b1	T	C	10: 98,996,888	V417A	probably damaging	Het
AY358078	T	C	14: 51,800,047	M1T	probably null	Het
BC117090	T	G	16: 36,321,786	D76A	possibly damaging	Het
Bcl2l15	A	G	3: 103,838,598		probably null	Het
Brpf3	A	G	17: 28,807,368	M472V	probably benign	Het
Bsn	A	G	9: 108,106,719	S3379P	unknown	Het
Cap2	T	C	13: 46,640,079	V333A	probably damaging	Het
Ccdc173	A	T	2: 69,781,837		probably null	Het
Cd207	T	A	6: 83,675,653	D165V	probably damaging	Het
Cmtr1	A	G	17: 29,674,174	T496A	probably benign	Het
Col14a1	T	A	15: 55,447,462		probably benign	Het
Cstb	A	G	10: 78,427,439	*99W	probably null	Het
Dip2c	T	C	13: 9,621,949	M990T	possibly damaging	Het
Epc2	A	G	2: 49,532,105	Y337C	probably damaging	Het
Fmn1	A	G	2: 113,709,438	E1326G	probably damaging	Het
Focad	A	T	4: 88,178,089	D236V	probably damaging	Het
Fsd1	G	A	17: 55,991,254	S193N	probably benign	Het
Gm4922	T	A	10: 18,784,463	R170S	possibly damaging	Het
Gm5129	T	C	5: 29,735,656		probably benign	Het
Gucy2d	T	A	7: 98,454,061	L504H	probably damaging	Het
Hspbap1	A	T	16: 35,801,564	Y93F	possibly damaging	Het
Iars2	A	T	1: 185,318,568	D441E	probably benign	Het
Il1rap	A	T	16: 26,722,926	H639L	probably damaging	Het
Inhbc	A	T	10: 127,357,547	V200E	probably benign	Het
Ints8	C	A	4: 11,241,684	C253F	probably damaging	Het
Intu	G	T	3: 40,664,335	G257V	probably damaging	Het
Kif23	C	A	9: 61,918,961	A929S	possibly damaging	Het
Kmt2b	A	T	7: 30,574,658	V2207E	possibly damaging	Het
Ksr2	A	C	5: 117,505,529	E121A	probably benign	Het
Lce1b	A	G	3: 92,656,011	S72P	unknown	Het
Lpl	TGG	TG	8: 68,896,602		probably null	Het
Mcmdc2	T	C	1: 9,930,805	V435A	probably damaging	Het
Mecom	A	G	3: 30,509,428		probably null	Het
Mier2	A	G	10: 79,548,830	V150A	probably damaging	Het
Mmp16	A	T	4: 18,116,013	D539V	probably benign	Het
Mpp1	A	G	X: 75,125,369		probably null	Het
Mpp2	C	T	11: 102,064,667	E86K	probably benign	Het
Mtor	T	A	4: 148,454,632	F195L	probably damaging	Het
Myo3a	T	C	2: 22,399,846	I663T	probably benign	Het
Nlrp5	G	A	7: 23,423,982	G756E	possibly damaging	Het
Nudt18	T	C	14: 70,579,895	L255P	probably damaging	Het
Nup62	T	A	7: 44,829,048	S162R	possibly damaging	Het
Olfr1097	A	G	2: 86,890,612	S188P	probably damaging	Het
Olfr659	T	A	7: 104,671,317	I205N	possibly damaging	Het
Olfr798	A	T	10: 129,625,752	I103K	probably damaging	Het
Olfr835	G	A	9: 19,035,266	A48T	probably benign	Het
Oosp2	C	T	19: 11,649,595		probably null	Het
Pan2	A	G	10: 128,313,181	D506G	probably damaging	Het
Pcdh9	G	A	14: 93,888,035	S233L	probably damaging	Het
Pcdhgc5	T	G	18: 37,821,418	S582A	possibly damaging	Het
Pdik1l	T	C	4: 134,278,911	D70G	probably damaging	Het
Peg12	T	C	7: 62,463,668	H227R	probably benign	Het
Pms1	C	T	1: 53,189,387	V901I	probably benign	Het
Pnisr	C	T	4: 21,874,086		probably benign	Het
Pole	A	G	5: 110,334,197	E135G	probably benign	Het
Ppp6r2	C	A	15: 89,281,938	A715E	probably benign	Het
Prickle4	T	G	17: 47,690,119	H174P	possibly damaging	Het
Prl2a1	T	C	13: 27,804,940	L16P	probably damaging	Het
Prss32	C	T	17: 23,853,894	T33M	probably benign	Het
Psmd13	C	T	7: 140,883,517	T38I	probably damaging	Het
Rai14	C	A	15: 10,633,228	Q25H	probably damaging	Het
Rbbp6	T	C	7: 122,997,029	V598A	probably damaging	Het
Rbm34	C	A	8: 126,970,881	A27S	probably benign	Het
Rbm4b	A	G	19: 4,762,303	T247A	probably benign	Het
Riiad1	G	A	3: 94,472,869	P40S	possibly damaging	Het
Sema4f	T	C	6: 82,917,843	D457G	possibly damaging	Het
Sema6c	A	T	3: 95,170,788	I492F	probably damaging	Het
Serpina3a	A	T	12: 104,118,627	I94L	probably benign	Het
Skida1	TTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTG	2: 18,046,344		probably benign	Het
Slc38a1	G	A	15: 96,587,135	T221M	probably damaging	Het
Slc6a17	T	A	3: 107,472,176	M559L	probably damaging	Het
Sntg2	T	C	12: 30,236,651	N315D	probably benign	Het
Snx10	T	A	6: 51,575,910	V11E	probably damaging	Het
Spta1	A	G	1: 174,219,839	E1683G	probably benign	Het
Ssc5d	A	T	7: 4,928,507	R238W	probably damaging	Het
Ssh1	A	T	5: 113,943,451	F617L	probably damaging	Het
Taf1	T	G	X: 101,562,957	M1254R	probably damaging	Het
Tcirg1	A	G	19: 3,898,835	L450P	probably damaging	Het
Ticam1	C	A	17: 56,271,718	A126S	probably benign	Het
Tnxb	T	A	17: 34,671,847	V388E	probably damaging	Het
Tomm5	A	G	4: 45,107,939	L32P	probably damaging	Het
Ubr5	A	T	15: 38,041,846	S169T	probably benign	Het
Usp28	T	G	9: 49,009,194	D240E	probably benign	Het
Usp34	T	C	11: 23,361,593	Y462H	possibly damaging	Het
Utp14b	C	A	1: 78,665,431	Q349K	probably damaging	Het
Utp20	G	T	10: 88,749,443	D2586E	probably benign	Het
Vmn1r173	A	G	7: 23,703,235	I298M	unknown	Het
Vmn1r37	T	A	6: 66,731,477	I29K	probably benign	Het
Vmn2r23	G	A	6: 123,702,915	G32D	probably damaging	Het
Xpo7	A	T	14: 70,693,991	F296I	probably damaging	Het
Zfhx4	A	G	3: 5,412,714	E3463G	probably damaging	Het
Zfp455	G	T	13: 67,207,445	R194L	probably benign	Het
Zfp663	T	C	2: 165,352,731	T523A	possibly damaging	Het

Other mutations in Ddx11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Ddx11	APN	17	66134137	missense	probably damaging	1.00
IGL01577:Ddx11	APN	17	66139403	missense	possibly damaging	0.95
IGL02558:Ddx11	APN	17	66148672	missense	probably damaging	0.99
IGL02801:Ddx11	APN	17	66148033	missense	probably benign	0.03
R1550:Ddx11	UTSW	17	66138220	missense	probably benign	0.16
R1587:Ddx11	UTSW	17	66149256	missense	probably damaging	1.00
R1601:Ddx11	UTSW	17	66150385	missense	probably damaging	1.00
R1625:Ddx11	UTSW	17	66150697	missense	probably benign	0.45
R1714:Ddx11	UTSW	17	66148759	missense	probably damaging	1.00
R1959:Ddx11	UTSW	17	66130728	missense	probably benign	0.27
R1980:Ddx11	UTSW	17	66148739	missense	probably damaging	0.97
R2392:Ddx11	UTSW	17	66149973	missense	probably damaging	1.00
R3118:Ddx11	UTSW	17	66149277	missense	probably damaging	1.00
R3425:Ddx11	UTSW	17	66139439	missense	possibly damaging	0.62
R3983:Ddx11	UTSW	17	66134130	missense	probably damaging	1.00
R4571:Ddx11	UTSW	17	66130773	missense	probably benign	0.20
R4576:Ddx11	UTSW	17	66150726	missense	probably damaging	1.00
R4847:Ddx11	UTSW	17	66130801	missense	probably damaging	1.00
R5010:Ddx11	UTSW	17	66147722	missense	possibly damaging	0.60
R5414:Ddx11	UTSW	17	66148768	missense	probably benign	0.40
R5610:Ddx11	UTSW	17	66150026	missense	probably damaging	1.00
R5822:Ddx11	UTSW	17	66129981	missense	probably benign	0.00
R5972:Ddx11	UTSW	17	66148090	missense	probably benign	0.05
R6017:Ddx11	UTSW	17	66130017	missense	probably benign	0.02
R6267:Ddx11	UTSW	17	66150729	critical splice donor site	probably null
R6296:Ddx11	UTSW	17	66150729	critical splice donor site	probably null
R7205:Ddx11	UTSW	17	66130771	missense	probably benign	0.25
R7531:Ddx11	UTSW	17	66138219	missense	probably benign	0.00
R7544:Ddx11	UTSW	17	66126285	missense	probably damaging	0.98
R7593:Ddx11	UTSW	17	66126198	missense	possibly damaging	0.48
R7598:Ddx11	UTSW	17	66130546	splice site	probably null
R7778:Ddx11	UTSW	17	66130548	critical splice donor site	probably null
R7824:Ddx11	UTSW	17	66130548	critical splice donor site	probably null
R8087:Ddx11	UTSW	17	66149993	missense	probably damaging	1.00
R8379:Ddx11	UTSW	17	66130025	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGAGGTTTTCCCAGGGTAAAC -3'
(R):5'- GGACTCATCACAACACGCTG -3'

Sequencing Primer
(F):5'- GTTTTCCCAGGGTAAACGAAAGCC -3'
(R):5'- TCACAACACGCTGGGATC -3'

Posted On

2014-06-30