Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Ddx11'

190902

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

039747-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66430515-66459169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 66455754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 718 (W718G)

Ref Sequence

ENSEMBL: ENSMUSP00000153436 (fasta)

Gene Model

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

AlphaFold

Q6AXC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000163605
AA Change: W692G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: W692G

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

probably damaging
Transcript: ENSMUST00000224497
AA Change: W718G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000224903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226095

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,464,479 (GRCm39)	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,136,925 (GRCm39)	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,315,514 (GRCm39)	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,812,916 (GRCm39)	Y464*	probably null	Het
Apba1	G	A	19: 23,922,316 (GRCm39)	E795K	possibly damaging	Het
Aqp12	T	A	1: 92,934,681 (GRCm39)	V186D	possibly damaging	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,631,112 (GRCm39)	S2R	possibly damaging	Het
Chd9	A	C	8: 91,760,853 (GRCm39)		probably benign	Het
Clk4	C	T	11: 51,171,245 (GRCm39)	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,984,559 (GRCm39)	Y417H	probably damaging	Het
Cr2	A	T	1: 194,833,994 (GRCm39)	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,352,934 (GRCm39)	R415S	probably damaging	Het
Dclk2	G	A	3: 86,813,400 (GRCm39)	A182V	probably benign	Het
Dmd	A	C	X: 83,008,356 (GRCm39)	T2069P	probably benign	Het
Dnai1	T	C	4: 41,632,164 (GRCm39)	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,633,265 (GRCm39)	R163*	probably null	Het
Dynll2	T	A	11: 87,874,838 (GRCm39)		probably null	Het
Ercc5	A	G	1: 44,206,499 (GRCm39)	T471A	probably benign	Het
Fan1	T	C	7: 64,016,435 (GRCm39)	D563G	probably benign	Het
Fbxo34	A	G	14: 47,766,658 (GRCm39)	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,353,713 (GRCm39)	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,415,176 (GRCm39)	Y82F	probably damaging	Het
Gm20939	C	A	17: 95,183,234 (GRCm39)	P157T	probably damaging	Het
H2bc1	T	C	13: 24,117,935 (GRCm39)	T69A	probably benign	Het
Haus3	A	T	5: 34,321,041 (GRCm39)	H468Q	probably benign	Het
Il20ra	T	C	10: 19,631,576 (GRCm39)	V259A	probably damaging	Het
Isg15	A	T	4: 156,284,414 (GRCm39)	V38E	probably damaging	Het
Kcnq3	A	G	15: 65,871,912 (GRCm39)	S586P	probably benign	Het
Kl	A	T	5: 150,876,798 (GRCm39)	Y206F	probably benign	Het
Klk1b24	C	A	7: 43,840,939 (GRCm39)	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,760,831 (GRCm39)	S840A	unknown	Het
Krt34	A	G	11: 99,930,953 (GRCm39)	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,830,769 (GRCm39)	K1502R	probably benign	Het
Letm1	G	T	5: 33,918,228 (GRCm39)	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,768,398 (GRCm39)	G397S	probably null	Het
Lrrc8c	A	G	5: 105,755,157 (GRCm39)	T311A	possibly damaging	Het
Mpeg1	A	T	19: 12,440,198 (GRCm39)	D552V	probably damaging	Het
Myh11	C	T	16: 14,054,232 (GRCm39)		probably null	Het
Ndufa9	T	C	6: 126,799,154 (GRCm39)		probably null	Het
Or4e5	A	C	14: 52,727,871 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,314,008 (GRCm39)	I78F	probably damaging	Het
Or8s8	G	A	15: 98,354,614 (GRCm39)	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,678,755 (GRCm39)	M117R	possibly damaging	Het
Ppp5c	T	C	7: 16,742,628 (GRCm39)	I237V	probably benign	Het
Prrc2c	G	A	1: 162,504,945 (GRCm39)	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697 (GRCm38)	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,675,542 (GRCm39)	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,689,174 (GRCm39)	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,558,947 (GRCm39)		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfpl4	T	G	7: 5,113,357 (GRCm39)	T269P	probably benign	Het
Rgs10	A	G	7: 128,004,946 (GRCm39)	V72A	probably damaging	Het
Rsph1	T	C	17: 31,474,190 (GRCm39)	N289S	probably benign	Het
Sbk2	T	C	7: 4,966,121 (GRCm39)	D21G	probably benign	Het
Shbg	A	T	11: 69,507,983 (GRCm39)	D127E	possibly damaging	Het
Spag16	A	G	1: 69,882,164 (GRCm39)	E52G	probably damaging	Het
Ssh2	G	A	11: 77,344,850 (GRCm39)	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,424,473 (GRCm39)	D91E	probably damaging	Het
Syne2	C	A	12: 76,101,713 (GRCm39)	A669E	probably benign	Het
Traf3	A	G	12: 111,208,907 (GRCm39)	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886 (GRCm39)	T295A	probably damaging	Het
Usp46	A	G	5: 74,163,828 (GRCm39)	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,579,640 (GRCm39)	S139P	possibly damaging	Het
Ydjc	G	A	16: 16,965,663 (GRCm39)	V143M	probably damaging	Het
Zfp169	T	C	13: 48,652,330 (GRCm39)	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935 (GRCm39)	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,238,591 (GRCm39)	D185N	probably damaging	Het
Zfp827	A	T	8: 79,787,202 (GRCm39)	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,698,442 (GRCm39)	I89N	probably damaging	Het
Zfr2	T	C	10: 81,080,583 (GRCm39)	L419P	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
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
R4576:Ddx11	UTSW	17	66,457,721 (GRCm39)	missense	probably damaging	1.00
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'- ATGTGGCATAATGTAAGGAGGCACC -3'
(R):5'- TCACAACACTGATTCGTGAGCCC -3'

Sequencing Primer
(F):5'- GTGAGCACATTGCATGATACC -3'
(R):5'- TGTAGTCAAGCTACAGGGAATCC -3'

Posted On

2014-05-14