Mutagenetix > Incidental Mutation

Incidental Mutation 'R4576:Ddx11'

377802

Institutional Source

Beutler Lab

Gene Symbol

Ddx11

Ensembl Gene

ENSMUSG00000035842

Gene Name

DEAD/H box helicase 11

Synonyms

4732462I11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11, CHL1, essa15a, CHLR1, KRG2

MMRRC Submission

041799-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66430515-66459169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66457721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 869 (K869E)

Ref Sequence

ENSEMBL: ENSMUSP00000130440 (fasta)

Gene Model

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

AlphaFold

Q6AXC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000163605
AA Change: K869E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: K869E

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

unknown
Transcript: ENSMUST00000224497
AA Change: K895E

Predicted Effect

probably benign
Transcript: ENSMUST00000224903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226095

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (84/86)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adhfe1	A	T	1: 9,623,979 (GRCm39)	D160V	probably damaging	Het
Ano9	T	C	7: 140,684,051 (GRCm39)	Q538R	probably damaging	Het
Atp4a	A	G	7: 30,417,147 (GRCm39)	D510G	probably benign	Het
Atp8a1	T	C	5: 67,973,158 (GRCm39)		probably benign	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
C7	A	G	15: 5,032,238 (GRCm39)	S658P	probably damaging	Het
Cdh9	T	C	15: 16,832,325 (GRCm39)	V404A	possibly damaging	Het
Cfap54	C	T	10: 92,879,090 (GRCm39)		probably null	Het
Chml	G	T	1: 175,514,506 (GRCm39)	Q129K	probably damaging	Het
Chst2	T	C	9: 95,287,224 (GRCm39)	H374R	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cirbp	A	G	10: 80,006,075 (GRCm39)	K84E	probably damaging	Het
Cln6	G	T	9: 62,746,231 (GRCm39)	Q23H	probably benign	Het
Cntn5	A	G	9: 9,673,297 (GRCm39)	M801T	probably benign	Het
Dapk1	A	T	13: 60,869,636 (GRCm39)	M293L	probably benign	Het
Ddx17	A	T	15: 79,425,347 (GRCm39)	M108K	probably benign	Het
Dnaaf5	C	A	5: 139,171,394 (GRCm39)	A557D	probably damaging	Het
Ecpas	A	T	4: 58,834,708 (GRCm39)		probably benign	Het
Edil3	T	C	13: 89,467,850 (GRCm39)	Y452H	probably damaging	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Enah	G	A	1: 181,747,128 (GRCm39)	S298L	possibly damaging	Het
Exoc7	T	C	11: 116,180,009 (GRCm39)	*685W	probably null	Het
Fgfbp1	C	T	5: 44,136,806 (GRCm39)	R162H	probably benign	Het
Foxj3	A	G	4: 119,478,860 (GRCm39)	S439G	unknown	Het
Fzd9	A	G	5: 135,279,166 (GRCm39)	S240P	probably damaging	Het
Gin1	A	G	1: 97,720,064 (GRCm39)	D442G	probably damaging	Het
Gm10804	C	T	2: 93,299,014 (GRCm39)		noncoding transcript	Het
Grhl3	G	T	4: 135,288,562 (GRCm39)	T41K	probably damaging	Het
H6pd	A	T	4: 150,078,933 (GRCm39)	D243E	probably damaging	Het
Heatr6	T	A	11: 83,655,826 (GRCm39)	S306T	probably benign	Het
Hkdc1	T	C	10: 62,221,622 (GRCm39)	D812G	possibly damaging	Het
Hmcn1	G	T	1: 150,610,238 (GRCm39)	T1477K	probably benign	Het
Ift80	A	G	3: 68,857,863 (GRCm39)	S261P	possibly damaging	Het
Kcnu1	A	T	8: 26,380,048 (GRCm39)	D424V	probably benign	Het
Kctd1	A	G	18: 15,140,757 (GRCm39)	S658P	probably damaging	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Llph-ps2	A	G	X: 13,084,690 (GRCm39)		noncoding transcript	Het
Lpxn	T	C	19: 12,810,654 (GRCm39)	I366T	probably benign	Het
Lrp1	ACAGGCGC	AC	10: 127,376,057 (GRCm39)		probably benign	Het
Maml3	G	A	3: 51,763,927 (GRCm39)	Q346*	probably null	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mlc1	G	A	15: 88,858,740 (GRCm39)	T136M	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Pcdhga9	A	C	18: 37,870,881 (GRCm39)	N237H	probably damaging	Het
Pde4dip	C	A	3: 97,661,565 (GRCm39)	E657D	probably damaging	Het
Pknox2	A	G	9: 36,834,844 (GRCm39)		probably benign	Het
Plcb3	C	T	19: 6,936,415 (GRCm39)		probably benign	Het
Plxnd1	G	A	6: 115,945,005 (GRCm39)	A99V	probably benign	Het
Pnpla2	T	C	7: 141,037,257 (GRCm39)	S87P	probably damaging	Het
Ppp1r14c	G	T	10: 3,316,912 (GRCm39)	K82N	probably damaging	Het
Pum3	G	A	19: 27,393,308 (GRCm39)	T389M	probably benign	Het
Pxdn	A	T	12: 30,061,922 (GRCm39)	T1165S	probably benign	Het
Rasgrf2	T	C	13: 92,044,529 (GRCm39)	D925G	possibly damaging	Het
Samhd1	A	T	2: 156,943,670 (GRCm39)	C615S	probably damaging	Het
Sec16a	A	T	2: 26,321,131 (GRCm39)	Y1320*	probably null	Het
Slco6b1	T	A	1: 96,916,422 (GRCm39)		noncoding transcript	Het
Slitrk6	C	A	14: 110,987,602 (GRCm39)	V702F	probably benign	Het
Spata31d1b	C	A	13: 59,864,675 (GRCm39)	H608N	probably damaging	Het
Spef1l	A	G	7: 139,558,043 (GRCm39)	I51T	probably damaging	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Tacc3	T	A	5: 33,818,841 (GRCm39)		probably benign	Het
Tango2	A	T	16: 18,119,392 (GRCm39)	D146E	probably damaging	Het
Thbs1	G	A	2: 117,949,897 (GRCm39)	R624Q	probably damaging	Het
Tmem161a	T	C	8: 70,634,713 (GRCm39)		probably null	Het
Tmem175	A	G	5: 108,792,468 (GRCm39)	D248G	possibly damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Trip11	G	A	12: 101,852,499 (GRCm39)	Q521*	probably null	Het
Tssk5	C	T	15: 76,256,668 (GRCm39)	R280Q	probably benign	Het
Ttc16	A	T	2: 32,660,071 (GRCm39)	F246I	probably benign	Het
Unc79	T	C	12: 102,968,062 (GRCm39)		probably benign	Het
Vmn1r74	A	G	7: 11,580,696 (GRCm39)		probably null	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Zc3h4	G	A	7: 16,168,579 (GRCm39)	R896H	unknown	Het
Zfp941	T	A	7: 140,391,503 (GRCm39)	K619*	probably null	Het
Zfp970	A	T	2: 177,167,473 (GRCm39)	H349L	probably damaging	Het

Other mutations in Ddx11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Ddx11	APN	17	66,441,132 (GRCm39)	missense	probably damaging	1.00
IGL01577:Ddx11	APN	17	66,446,398 (GRCm39)	missense	possibly damaging	0.95
IGL02558:Ddx11	APN	17	66,455,667 (GRCm39)	missense	probably damaging	0.99
IGL02801:Ddx11	APN	17	66,455,028 (GRCm39)	missense	probably benign	0.03
R1550:Ddx11	UTSW	17	66,445,215 (GRCm39)	missense	probably benign	0.16
R1587:Ddx11	UTSW	17	66,456,251 (GRCm39)	missense	probably damaging	1.00
R1601:Ddx11	UTSW	17	66,457,380 (GRCm39)	missense	probably damaging	1.00
R1625:Ddx11	UTSW	17	66,457,692 (GRCm39)	missense	probably benign	0.45
R1714:Ddx11	UTSW	17	66,455,754 (GRCm39)	missense	probably damaging	1.00
R1867:Ddx11	UTSW	17	66,442,934 (GRCm39)	splice site	probably null
R1959:Ddx11	UTSW	17	66,437,723 (GRCm39)	missense	probably benign	0.27
R1980:Ddx11	UTSW	17	66,455,734 (GRCm39)	missense	probably damaging	0.97
R2392:Ddx11	UTSW	17	66,456,968 (GRCm39)	missense	probably damaging	1.00
R3118:Ddx11	UTSW	17	66,456,272 (GRCm39)	missense	probably damaging	1.00
R3425:Ddx11	UTSW	17	66,446,434 (GRCm39)	missense	possibly damaging	0.62
R3983:Ddx11	UTSW	17	66,441,125 (GRCm39)	missense	probably damaging	1.00
R4571:Ddx11	UTSW	17	66,437,768 (GRCm39)	missense	probably benign	0.20
R4847:Ddx11	UTSW	17	66,437,796 (GRCm39)	missense	probably damaging	1.00
R5010:Ddx11	UTSW	17	66,454,717 (GRCm39)	missense	possibly damaging	0.60
R5414:Ddx11	UTSW	17	66,455,763 (GRCm39)	missense	probably benign	0.40
R5610:Ddx11	UTSW	17	66,457,021 (GRCm39)	missense	probably damaging	1.00
R5822:Ddx11	UTSW	17	66,436,976 (GRCm39)	missense	probably benign	0.00
R5972:Ddx11	UTSW	17	66,455,085 (GRCm39)	missense	probably benign	0.05
R6017:Ddx11	UTSW	17	66,437,012 (GRCm39)	missense
R6267:Ddx11	UTSW	17	66,457,724 (GRCm39)	critical splice donor site	probably null
R6296:Ddx11	UTSW	17	66,457,724 (GRCm39)	critical splice donor site	probably null
R7205:Ddx11	UTSW	17	66,437,766 (GRCm39)	missense	probably benign	0.25
R7531:Ddx11	UTSW	17	66,445,214 (GRCm39)	missense	probably benign	0.00
R7544:Ddx11	UTSW	17	66,433,280 (GRCm39)	missense	probably damaging	0.98
R7593:Ddx11	UTSW	17	66,433,193 (GRCm39)	missense	possibly damaging	0.48
R7598:Ddx11	UTSW	17	66,437,541 (GRCm39)	splice site	probably null
R7778:Ddx11	UTSW	17	66,437,543 (GRCm39)	critical splice donor site	probably null
R7824:Ddx11	UTSW	17	66,437,543 (GRCm39)	critical splice donor site	probably null
R8087:Ddx11	UTSW	17	66,456,988 (GRCm39)	missense	probably damaging	1.00
R8379:Ddx11	UTSW	17	66,437,020 (GRCm39)	missense	probably benign
R8885:Ddx11	UTSW	17	66,450,460 (GRCm39)	missense	probably benign	0.00
R9071:Ddx11	UTSW	17	66,450,736 (GRCm39)	missense	probably damaging	1.00
R9252:Ddx11	UTSW	17	66,457,807 (GRCm39)	missense	probably benign	0.01
R9398:Ddx11	UTSW	17	66,436,912 (GRCm39)	missense	probably benign	0.38
R9556:Ddx11	UTSW	17	66,447,207 (GRCm39)	missense	probably benign	0.06
R9639:Ddx11	UTSW	17	66,437,012 (GRCm39)	missense
R9775:Ddx11	UTSW	17	66,445,157 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTGCATCTACCCAGGCAG -3'
(R):5'- GCAAGTTGAACACTAGAGTCCAC -3'

Sequencing Primer
(F):5'- CCTTCTATTCTGGCGAAG -3'
(R):5'- TAGAGTCCACTGCCTCTGGAAG -3'

Posted On

2016-04-06