Mutagenetix > Incidental Mutations

Incidental Mutation 'R4571:Ddx11'

342172

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

MMRRC Submission

041795-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4571 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66123520-66152174 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66130773 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 165 (C165R)

Ref Sequence

ENSEMBL: ENSMUSP00000152906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903] [ENSMUST00000225956]

Predicted Effect

probably benign
Transcript: ENSMUST00000163605
AA Change: C165R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: C165R

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: ENSMUST00000223600

Predicted Effect

probably benign
Transcript: ENSMUST00000224497
AA Change: C191R

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000224903
AA Change: C191R

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Predicted Effect

probably benign
Transcript: ENSMUST00000225956
AA Change: C165R

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (69/69)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	A	6: 96,164,881	N394I	probably damaging	Het
Abca8a	A	T	11: 110,030,058	C1497S	probably damaging	Het
Acoxl	G	T	2: 127,877,807	G163W	probably damaging	Het
Apbb1	T	A	7: 105,573,762	N214I	probably damaging	Het
Apol7b	T	C	15: 77,423,534	K254E	probably benign	Het
Arl4d	T	A	11: 101,667,143	V165E	possibly damaging	Het
Brca1	C	A	11: 101,517,366	R1377L	probably benign	Het
Btf3	A	G	13: 98,313,284	F65L	probably benign	Het
C2	T	C	17: 34,863,659	N495D	probably benign	Het
Cacna1c	T	C	6: 118,630,380	T1188A	probably benign	Het
Chd7	C	A	4: 8,866,217	D796E	probably benign	Het
Clasp2	G	T	9: 113,847,721	L173F	probably damaging	Het
Clec4g	A	T	8: 3,718,766		probably null	Het
Col9a3	T	C	2: 180,616,366		probably benign	Het
Csmd2	T	A	4: 128,480,095		probably null	Het
Dnah7c	A	C	1: 46,533,216	M950L	probably damaging	Het
Dusp23	A	C	1: 172,632,614		probably null	Het
Ebag9	A	T	15: 44,636,762		probably null	Het
Edn3	G	A	2: 174,781,904	A211T	probably benign	Het
Eif3e	G	A	15: 43,266,162	T190I	possibly damaging	Het
Fam76a	T	C	4: 132,920,897	H3R	possibly damaging	Het
Gabbr1	G	T	17: 37,054,236	E138*	probably null	Het
Galc	T	C	12: 98,222,617	T412A	probably benign	Het
Gimap3	T	C	6: 48,765,720	D92G	possibly damaging	Het
Gin1	T	C	1: 97,785,076	Y285H	probably damaging	Het
Gm4868	A	G	5: 125,848,718		noncoding transcript	Het
Gm7052	T	A	17: 22,040,424		probably benign	Het
Gpcpd1	T	A	2: 132,550,350	E226D	probably benign	Het
Hoxb4	T	C	11: 96,319,166	S133P	possibly damaging	Het
Hrg	C	T	16: 22,961,222		probably benign	Het
Insrr	A	G	3: 87,800,887	K212R	probably benign	Het
Ipp	A	G	4: 116,530,458	D411G	probably damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kcnq3	A	G	15: 66,030,612	F172L	probably damaging	Het
Kdm5d	T	C	Y: 927,110	F616S	probably damaging	Het
Lars	T	C	18: 42,228,230		probably null	Het
Lmo7	G	T	14: 101,887,594	Q496H	probably damaging	Het
Map3k9	C	A	12: 81,734,091	A432S	probably benign	Het
Nop2	T	G	6: 125,140,881		probably null	Het
Olfr1029	A	T	2: 85,975,831	E196V	probably damaging	Het
Olfr1115	C	A	2: 87,252,458	Q174K	possibly damaging	Het
Olfr420	A	T	1: 174,158,928	N52Y	possibly damaging	Het
Olfr90	T	C	17: 37,085,579	I195M	probably damaging	Het
Pan2	A	G	10: 128,308,643	T187A	probably benign	Het
Pcmtd2	A	G	2: 181,842,424	E9G	possibly damaging	Het
Pik3cb	T	A	9: 99,090,257	I283F	possibly damaging	Het
Pkhd1	G	A	1: 20,613,409	T40I	probably damaging	Het
Plxna2	T	C	1: 194,810,988	V1857A	possibly damaging	Het
Polg	T	C	7: 79,460,379	S334G	probably damaging	Het
Rem2	T	C	14: 54,477,659	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,704,236		noncoding transcript	Het
Slc6a18	A	T	13: 73,666,370	N468K	possibly damaging	Het
Slco4a1	A	T	2: 180,464,378	T118S	probably benign	Het
Smg1	A	T	7: 118,139,465	N3520K	possibly damaging	Het
Tapbp	C	A	17: 33,926,453	D415E	probably damaging	Het
Topaz1	A	G	9: 122,747,436	T31A	probably benign	Het
Trpv6	C	T	6: 41,621,744	R649H	probably damaging	Het
Vmn1r188	A	G	13: 22,088,518	Y214C	probably benign	Het
Vps8	T	A	16: 21,435,775	I59N	probably damaging	Het
Wnt9a	T	C	11: 59,331,337	C354R	probably damaging	Het
Zcchc2	A	G	1: 106,031,257	T1153A	possibly damaging	Het
Zfp30	A	G	7: 29,793,202	R294G	probably damaging	Het
Zfp558	A	T	9: 18,456,503	C330S	possibly damaging	Het
Zfp62	A	C	11: 49,215,741	S220R	probably damaging	Het
Zfp62	G	T	11: 49,215,742	S220I	probably damaging	Het
Zp3r	A	G	1: 130,578,020	S423P	probably 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
R1867:Ddx11	UTSW	17	66135939	splice site	probably null
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
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'- CCGATTGAAGTGACAGACCG -3'
(R):5'- ACATACATGGGACTGTCACAG -3'

Sequencing Primer
(F):5'- TTGAAGTGACAGACCGGAGCG -3'
(R):5'- CTGTCACAGAATAAAGGGTCAACCG -3'

Posted On

2015-09-24