Mutagenetix > Incidental Mutation

Incidental Mutation 'R8087:Ddx11'

629755

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

067520-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8087 (G1)

Quality Score

140.008

Status

Not validated

Chromosome

Chromosomal Location

66430515-66459169 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66456988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 772 (Y772N)

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: Y772N

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

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: Y772N

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 benign
Transcript: ENSMUST00000224903

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.7%
20x: 83.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	G	7: 126,430,052 (GRCm39)	V73A	possibly damaging	Het
Abcg1	T	C	17: 31,283,459 (GRCm39)	L48P	probably benign	Het
Ablim1	A	G	19: 57,170,688 (GRCm39)	W18R		Het
Acss1	A	G	2: 150,484,668 (GRCm39)	F192L	probably damaging	Het
Arhgap32	A	G	9: 32,168,324 (GRCm39)	N769S	probably benign	Het
BC004004	T	A	17: 29,513,064 (GRCm39)	L163I	probably damaging	Het
Bco1	A	T	8: 117,835,501 (GRCm39)	T151S	possibly damaging	Het
Btbd8	T	A	5: 107,632,953 (GRCm39)	Y264N	probably damaging	Het
C1ra	G	A	6: 124,490,831 (GRCm39)	V75I	probably damaging	Het
Cadps	A	C	14: 12,536,380 (GRCm38)	W527G	probably damaging	Het
Calca	T	C	7: 114,231,809 (GRCm39)	N85D	probably benign	Het
Capn13	A	G	17: 73,623,279 (GRCm39)	L644P	probably damaging	Het
Ccdc57	T	C	11: 120,788,705 (GRCm39)	I381V	probably benign	Het
Ccr1	A	G	9: 123,764,371 (GRCm39)	V53A	probably benign	Het
Cd27	G	T	6: 125,210,325 (GRCm39)	A234D	possibly damaging	Het
Cnpy4	T	A	5: 138,188,532 (GRCm39)	V46E	probably damaging	Het
Cspp1	T	G	1: 10,174,489 (GRCm39)	D647E	possibly damaging	Het
Ctnnd1	A	T	2: 84,441,220 (GRCm39)	F660I	possibly damaging	Het
Dchs1	A	T	7: 105,402,706 (GRCm39)	S3279T	probably benign	Het
Dennd11	T	A	6: 40,395,526 (GRCm39)	D194V	possibly damaging	Het
Dgkd	T	A	1: 87,844,569 (GRCm39)	V245E	probably damaging	Het
Dmgdh	C	T	13: 93,840,379 (GRCm39)	T270I	possibly damaging	Het
Elac2	A	G	11: 64,870,034 (GRCm39)	H33R	probably benign	Het
Emilin1	T	A	5: 31,074,444 (GRCm39)	D228E	probably damaging	Het
F2rl1	A	G	13: 95,650,507 (GRCm39)	L125P	probably damaging	Het
Fam186a	A	G	15: 99,839,725 (GRCm39)	V2173A	possibly damaging	Het
Foxp4	C	A	17: 48,215,355 (GRCm39)	G30C	probably damaging	Het
Fyn	T	A	10: 39,405,553 (GRCm39)	L273*	probably null	Het
Garnl3	G	T	2: 32,935,548 (GRCm39)	D196E	probably benign	Het
Glb1	A	T	9: 114,259,483 (GRCm39)	T220S	probably damaging	Het
Hsdl2	G	T	4: 59,592,228 (GRCm39)	A31S	unknown	Het
Irak3	T	A	10: 120,018,440 (GRCm39)	I103F	probably benign	Het
Khdrbs2	A	T	1: 32,454,057 (GRCm39)	M148L	probably benign	Het
Kif2c	A	T	4: 117,022,615 (GRCm39)	S500R	possibly damaging	Het
Kmt2c	T	C	5: 25,534,250 (GRCm39)	Y1500C	probably damaging	Het
Lrp2	T	C	2: 69,278,473 (GRCm39)	D3960G	probably damaging	Het
Map2k6	A	T	11: 110,381,002 (GRCm39)	I39L	probably benign	Het
Muc13	G	T	16: 33,619,397 (GRCm39)	Q48H	unknown	Het
Nlrp1b	A	T	11: 71,062,897 (GRCm39)	I721N	probably benign	Het
Ntsr1	A	T	2: 180,141,965 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,212 (GRCm39)		probably null	Het
Or2h2c	T	C	17: 37,422,440 (GRCm39)	I145V	probably benign	Het
Ovol3	A	C	7: 29,933,797 (GRCm39)	D108E	probably damaging	Het
Pcdhb4	C	A	18: 37,441,717 (GRCm39)	N342K	probably damaging	Het
Pcgf3	A	G	5: 108,634,102 (GRCm39)	D120G	probably benign	Het
Pde6b	T	C	5: 108,536,328 (GRCm39)	V8A	probably benign	Het
Pkhd1	G	T	1: 20,593,313 (GRCm39)	T1600K	probably damaging	Het
Pkp3	A	G	7: 140,667,551 (GRCm39)	I451V	possibly damaging	Het
Plce1	A	G	19: 38,724,965 (GRCm39)	T1439A	probably damaging	Het
Prr27	C	A	5: 87,994,168 (GRCm39)	N347K	probably benign	Het
Prss41	T	C	17: 24,056,076 (GRCm39)	Y259C	probably damaging	Het
Rasgef1b	T	C	5: 99,369,248 (GRCm39)	I457V	probably benign	Het
Rspry1	G	A	8: 95,380,925 (GRCm39)	V534M	probably benign	Het
Rxrb	T	C	17: 34,254,763 (GRCm39)	V306A	probably benign	Het
Sim1	T	C	10: 50,785,651 (GRCm39)	M240T	possibly damaging	Het
Slc22a4	A	T	11: 53,886,887 (GRCm39)	I285K	possibly damaging	Het
Slc4a2	GGCAGCAGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	5: 24,643,747 (GRCm39)		probably benign	Het
Snx19	T	C	9: 30,375,698 (GRCm39)	M993T	probably benign	Het
Sstr2	G	A	11: 113,515,501 (GRCm39)	R140H	probably damaging	Het
Syne1	C	T	10: 5,283,034 (GRCm39)	R1553Q	probably benign	Het
Tchp	T	C	5: 114,857,665 (GRCm39)	I386T	probably damaging	Het
Tmem273	G	T	14: 32,507,926 (GRCm39)		probably benign	Het
Traf7	G	T	17: 24,731,038 (GRCm39)	S304R	possibly damaging	Het
Trcg1	C	T	9: 57,155,957 (GRCm39)	L798F	probably damaging	Het
Ttc3	C	T	16: 94,243,812 (GRCm39)	P1272L	probably benign	Het
Ttf2	G	T	3: 100,871,412 (GRCm39)	A83E	probably damaging	Het
Uba3	T	A	6: 97,162,344 (GRCm39)	I421F	possibly damaging	Het
Ube3b	T	C	5: 114,550,550 (GRCm39)		probably null	Het
Ulk4	A	G	9: 121,095,317 (GRCm39)	L112P	probably damaging	Het
Unc5a	A	G	13: 55,143,985 (GRCm39)	N150S	probably damaging	Het
Vac14	A	T	8: 111,446,532 (GRCm39)	K760N	probably benign	Het
Vmn2r113	A	T	17: 23,177,711 (GRCm39)	I832L	possibly damaging	Het
Vmn2r-ps158	A	T	7: 42,697,094 (GRCm39)	Y717F	probably benign	Het
Xpot	T	C	10: 121,437,232 (GRCm39)	I830V	probably benign	Het
Zfp101	G	A	17: 33,599,977 (GRCm39)	T593I	probably benign	Het
Zfp54	A	C	17: 21,655,260 (GRCm39)	T585P	probably damaging	Het
Zfp663	T	C	2: 165,195,679 (GRCm39)	D180G	probably benign	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
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
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'- TGCATGCTCAGAAGACACAGC -3'
(R):5'- AGGAAAGCAACCATTTGTACAACAG -3'

Sequencing Primer
(F):5'- ACACAAGCCTGCATGGTTG -3'
(R):5'- TTGTACAACAGGTCATACTGCAGG -3'

Posted On

2020-06-30