Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Ddx11'

390459

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

042601-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66123520-66152174 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 66147722 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 642 (V642M)

Ref Sequence

ENSEMBL: ENSMUSP00000153436 (fasta)

Gene Model

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

AlphaFold

Q6AXC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163605
AA Change: V616M

PolyPhen 2 Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: V616M

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

possibly damaging
Transcript: ENSMUST00000224497
AA Change: V642M

PolyPhen 2 Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000224903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226095

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,422,804	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,574,428		probably benign	Het
Actr5	T	A	2: 158,635,363	D411E	probably benign	Het
Ang5	A	G	14: 43,962,845	D122G	probably benign	Het
Atg9a	A	T	1: 75,186,060		probably null	Het
C530008M17Rik	G	C	5: 76,657,834		probably benign	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Dis3l2	G	A	1: 86,760,321	V100I	probably benign	Het
Echdc2	T	C	4: 108,172,131	V111A	probably benign	Het
Egr1	A	G	18: 34,863,658	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,729,223	D229G	probably benign	Het
Ext1	T	A	15: 53,092,412	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,403,424	N31S	probably benign	Het
Gja8	T	C	3: 96,919,849	T166A	probably benign	Het
Gm21814	T	A	6: 149,583,618		noncoding transcript	Het
Gm21915	T	A	9: 40,670,648	H12Q	probably benign	Het
Gm597	A	G	1: 28,777,862	I363T	possibly damaging	Het
Hgsnat	G	A	8: 25,947,960	R527*	probably null	Het
Iqgap2	A	G	13: 95,673,743	F731S	probably benign	Het
Jchain	T	C	5: 88,522,505	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,312,962	C171R	probably benign	Het
Kcnk3	C	A	5: 30,622,805	R400S	possibly damaging	Het
Klhl28	C	T	12: 64,957,227	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,223,972	I375T	possibly damaging	Het
Mccc1	T	C	3: 35,979,017	N326S	probably benign	Het
Med13l	T	C	5: 118,593,550	V97A	possibly damaging	Het
Mertk	C	A	2: 128,784,000	T685K	probably benign	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Myom2	G	A	8: 15,083,310	V401M	probably damaging	Het
Nme5	A	C	18: 34,578,685	M1R	probably null	Het
Nop2	T	C	6: 125,133,763	S68P	probably benign	Het
Notch1	A	T	2: 26,476,114	D809E	possibly damaging	Het
Olfr292	T	C	7: 86,694,585	I43T	possibly damaging	Het
Ppat	C	T	5: 76,928,678		probably benign	Het
Prss23	T	A	7: 89,510,214	M216L	probably benign	Het
Psg18	A	T	7: 18,349,354	V171D	probably damaging	Het
Psg28	A	G	7: 18,427,891	V229A	probably damaging	Het
Qser1	T	C	2: 104,787,831	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,770,041	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926	S411P	probably damaging	Het
Rxfp2	T	A	5: 150,067,360	W519R	probably damaging	Het
Scpep1	T	A	11: 88,941,349	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,379,649	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,671,444	M367K	probably benign	Het
Skint10	T	G	4: 112,727,672	I213L	probably benign	Het
Skint5	T	C	4: 113,546,537	T1163A	unknown	Het
Slamf9	A	T	1: 172,476,213	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,650,846		probably benign	Het
Smad6	T	A	9: 63,953,900	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,324	V26E	probably damaging	Het
Taf4b	A	G	18: 14,822,172	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,780,092	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,868,475	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,293,936		probably benign	Het
Timm50	A	T	7: 28,306,859	D272E	probably benign	Het
Ttn	T	G	2: 76,900,511		probably benign	Het
Vps13c	T	A	9: 67,916,379	F1362I	probably benign	Het
Vwf	T	C	6: 125,566,257	S154P	probably benign	Het
Zfp445	T	C	9: 122,852,345	R844G	probably benign	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
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
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
R8885:Ddx11	UTSW	17	66143465	missense	probably benign	0.00
R9071:Ddx11	UTSW	17	66143741	missense	probably damaging	1.00
R9252:Ddx11	UTSW	17	66150812	missense	probably benign	0.01
R9398:Ddx11	UTSW	17	66129917	missense	probably benign	0.38
R9556:Ddx11	UTSW	17	66140212	missense	probably benign	0.06
R9639:Ddx11	UTSW	17	66130017	missense
R9775:Ddx11	UTSW	17	66138162	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCACACTGGATACCGGTTG -3'
(R):5'- TAAATGCACTTAGCTCTTCACTGC -3'

Sequencing Primer
(F):5'- ACACTGGATACCGGTTGTTTTC -3'
(R):5'- AGCTCTTCACTGCACTGACAC -3'

Posted On

2016-06-06