Mutagenetix > Incidental Mutations

Incidental Mutation 'R6017:Ddx11'

478677

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

044191-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66123520-66152174 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66130017 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 102 (D102G)

Ref Sequence

ENSEMBL: ENSMUSP00000153436 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163605
AA Change: D102G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: D102G

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: D102G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000224903
AA Change: D102G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Predicted Effect

probably benign
Transcript: ENSMUST00000225956
AA Change: D102G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,809,921	V635D	probably damaging	Het
Adgb	T	C	10: 10,450,036	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,397,423	L5581*	probably null	Het
Arpc2	C	A	1: 74,262,486	H193N	probably benign	Het
B3galt5	A	G	16: 96,315,184	T6A	probably benign	Het
Bod1l	A	T	5: 41,818,760	V1737E	probably benign	Het
Cacfd1	T	G	2: 27,013,428		probably benign	Het
Cdc42ep4	A	T	11: 113,729,366	D66E	probably benign	Het
Cldn1	G	T	16: 26,363,219	T80N	probably damaging	Het
Cmtm1	C	A	8: 104,310,951		probably benign	Het
Cntnap5c	A	T	17: 58,104,698	I526F	probably benign	Het
Copb1	T	C	7: 114,236,797	K450E	probably benign	Het
Crebrf	A	C	17: 26,757,849	I416L	probably benign	Het
Csmd3	C	A	15: 48,314,012	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,681,030	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,790,573	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,326,279	C198*	probably null	Het
Dpys	T	A	15: 39,846,718	Q105L	probably null	Het
Dsn1	C	A	2: 156,996,242	R334L	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Epha8	G	T	4: 136,931,743	H867N	probably damaging	Het
Ephb3	T	C	16: 21,222,031	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,158,553	H83Q	probably benign	Het
Gm13102	T	C	4: 144,109,237	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,057,278	T82A	probably benign	Het
Gss	C	A	2: 155,587,465	A36S	probably benign	Het
Hepacam	A	G	9: 37,380,760	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332	V226F	probably damaging	Het
Hgfac	T	C	5: 35,044,395	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,797,267	R88H	probably benign	Het
Irx5	T	A	8: 92,358,250	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,175,081	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,394,104		probably benign	Het
Kcnk12	T	C	17: 87,746,736	E166G	probably damaging	Het
Kctd16	T	C	18: 40,258,943	C195R	probably damaging	Het
Kif28	T	A	1: 179,699,453	I718F	probably benign	Het
Lce1e	T	A	3: 92,707,933	K36*	probably null	Het
Map4	T	C	9: 110,034,619	L304P	probably benign	Het
Mettl17	C	T	14: 51,891,617		probably benign	Het
Mpp4	T	C	1: 59,121,359	D595G	probably damaging	Het
Myo18a	A	G	11: 77,841,523	K1282E	probably damaging	Het
Nf2	A	T	11: 4,816,137	V131D	possibly damaging	Het
Olfr147	A	T	9: 38,403,620	M249L	probably benign	Het
Olfr855	T	C	9: 19,585,434	V299A	probably benign	Het
Oxsr1	A	G	9: 119,264,777	L270S	probably benign	Het
Plekhg2	G	A	7: 28,362,884	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363	V306D	probably benign	Het
Ptk6	C	T	2: 181,195,812	C438Y	probably benign	Het
Scfd1	T	C	12: 51,445,678	V590A	probably damaging	Het
Serpina1b	A	G	12: 103,729,272	S337P	probably damaging	Het
Skor2	T	A	18: 76,858,927	C115S	unknown	Het
Slc2a7	T	C	4: 150,165,172	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,648,254	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,035,079	D145G	possibly damaging	Het
Spata6	C	A	4: 111,774,827	T145K	probably damaging	Het
Stab1	C	T	14: 31,141,544	R2087H	probably benign	Het
Stk24	C	T	14: 121,302,245	V180M	probably benign	Het
Trrap	A	G	5: 144,844,241	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,816,666	W755R	probably damaging	Het
Ush2a	T	C	1: 188,957,514		probably null	Het
Uts2b	T	C	16: 27,361,043		probably null	Het
Vmn2r105	T	A	17: 20,208,627	H729L	probably damaging	Het
Wdfy3	T	C	5: 101,851,359	I3068V	probably benign	Het
Zfp457	G	A	13: 67,293,699	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,373,731	D40G	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
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
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'- TCCTGCAGGGAAAGTCCTTAAG -3'
(R):5'- TCTCATTGCAAGTTCACCCAAG -3'

Sequencing Primer
(F):5'- CAGGGAAAGTCCTTAAGTCTGATTTG -3'
(R):5'- AAGTTCACCCAAGGGCTG -3'

Posted On

2017-06-26