Mutagenetix > Incidental Mutation

Incidental Mutation 'R2265:Ddx4'

244109

Institutional Source

Beutler Lab

Gene Symbol

Ddx4

Ensembl Gene

ENSMUSG00000021758

Gene Name

DEAD box helicase 4

Synonyms

VASA, mvh / m'vasa, DEAD (Asp-Glu-Ala-Asp) box polypeptide 4, Mvh

MMRRC Submission

040265-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.686) question?

Stock #

R2265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112734867-112789009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112757810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 290 (Y290H)

Ref Sequence

ENSEMBL: ENSMUSP00000075157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075748] [ENSMUST00000099166]

AlphaFold

Q61496

Predicted Effect

probably benign
Transcript: ENSMUST00000075748
AA Change: Y290H

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: Y290H

Domain	Start	End	E-Value	Type
Blast:DEXDc	22	165	8e-14	BLAST
low complexity region	175	183	N/A	INTRINSIC
low complexity region	221	229	N/A	INTRINSIC
DEXDc	280	491	9.38e-59	SMART
HELICc	527	608	1.18e-32	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099166
AA Change: Y316H

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: Y316H

Domain	Start	End	E-Value	Type
Blast:DEXDc	41	191	7e-25	BLAST
low complexity region	201	209	N/A	INTRINSIC
low complexity region	247	255	N/A	INTRINSIC
DEXDc	306	517	9.38e-59	SMART
HELICc	553	634	1.18e-32	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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 a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Spermatogenesis is blocked in homozygous mutant mice, resulting in male infertility. Female mutant mice are fertile and do not exhibit any obvious reproductive defects. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, other(3) Gene trapped(2)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	C	1: 12,042,328 (GRCm39)		probably null	Het
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Adam24	T	A	8: 41,133,110 (GRCm39)	S193T	possibly damaging	Het
Adra2b	T	C	2: 127,205,791 (GRCm39)	S103P	probably damaging	Het
Agrn	C	T	4: 156,263,675 (GRCm39)	G173R	probably damaging	Het
Alg11	T	A	8: 22,555,630 (GRCm39)	V255E	probably benign	Het
Aox1	C	A	1: 58,120,679 (GRCm39)	D857E	probably damaging	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Bdkrb2	A	G	12: 105,558,484 (GRCm39)	T242A	probably benign	Het
Cdca7	T	C	2: 72,312,834 (GRCm39)	L190P	probably benign	Het
Cenpe	A	G	3: 134,967,397 (GRCm39)	T2180A	probably benign	Het
Cep41	T	A	6: 30,660,915 (GRCm39)	I126F	possibly damaging	Het
Col16a1	C	A	4: 129,946,711 (GRCm39)	H111Q	probably benign	Het
Cops3	T	C	11: 59,718,716 (GRCm39)	T193A	probably benign	Het
Dbr1	G	A	9: 99,461,463 (GRCm39)	V153M	probably damaging	Het
Dgkb	T	A	12: 38,240,107 (GRCm39)	S461R	possibly damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnajc28	T	C	16: 91,413,200 (GRCm39)	N372S	probably benign	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock3	C	A	9: 106,818,525 (GRCm39)	V1190F	probably damaging	Het
Exosc1	A	G	19: 41,919,857 (GRCm39)	S54P	probably damaging	Het
Fbxw22	C	T	9: 109,213,062 (GRCm39)	R295K	probably benign	Het
Foxo1	T	C	3: 52,253,333 (GRCm39)	S499P	probably benign	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hspa2	T	G	12: 76,452,962 (GRCm39)	I552S	probably benign	Het
Imp4	T	A	1: 34,482,928 (GRCm39)	I173N	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Kcnh6	G	A	11: 105,924,643 (GRCm39)	R816Q	probably benign	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnip3	G	T	2: 127,306,981 (GRCm39)	A173D	probably benign	Het
Kir3dl1	A	G	X: 135,425,784 (GRCm39)	R53G	probably benign	Het
Klhl31	A	G	9: 77,557,440 (GRCm39)	D52G	possibly damaging	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lilrb4a	T	A	10: 51,367,633 (GRCm39)	Y58*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mpdz	A	G	4: 81,301,628 (GRCm39)	S266P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,124 (GRCm39)	N185D	probably benign	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Mycbp2	T	C	14: 103,500,185 (GRCm39)	D937G	probably benign	Het
Myo18b	A	G	5: 112,930,539 (GRCm39)	M1799T	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Or10ak16	A	T	4: 118,751,071 (GRCm39)	R264W	probably damaging	Het
Or2m12	A	G	16: 19,105,305 (GRCm39)	Y63H	probably damaging	Het
Or4f54	A	G	2: 111,123,524 (GRCm39)	T304A	probably benign	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or52n20	T	C	7: 104,320,067 (GRCm39)	F53L	probably benign	Het
Or8k28	T	C	2: 86,286,558 (GRCm39)	Y19C	possibly damaging	Het
Ovch2	A	T	7: 107,383,782 (GRCm39)	M521K	probably damaging	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Pcdhb19	A	T	18: 37,630,736 (GRCm39)	H177L	probably damaging	Het
Phf8	T	C	X: 150,355,597 (GRCm39)	L520S	possibly damaging	Het
Pjvk	T	G	2: 76,487,797 (GRCm39)	S230A	possibly damaging	Het
Plch2	T	C	4: 155,077,461 (GRCm39)	E423G	probably benign	Het
Rad9b	T	C	5: 122,489,405 (GRCm39)	Y41C	probably damaging	Het
Ranbp3l	A	T	15: 9,057,194 (GRCm39)	I286F	probably damaging	Het
Rtel1	T	A	2: 180,996,161 (GRCm39)	V739D	probably damaging	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spg11	A	T	2: 121,938,788 (GRCm39)	C389S	possibly damaging	Het
Srsf4	T	C	4: 131,624,993 (GRCm39)	V130A	probably damaging	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Tas2r117	T	A	6: 132,780,188 (GRCm39)	C109S	probably benign	Het
Tlr5	T	A	1: 182,802,600 (GRCm39)	S635T	possibly damaging	Het
Ttc21a	G	T	9: 119,788,074 (GRCm39)	C833F	possibly damaging	Het
Vash2	T	C	1: 190,682,410 (GRCm39)	N347D	probably damaging	Het
Vcp	G	A	4: 42,980,833 (GRCm39)	A759V	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Vps13c	T	C	9: 67,828,229 (GRCm39)	V1461A	possibly damaging	Het
Zfp616	T	C	11: 73,976,289 (GRCm39)	Y853H	possibly damaging	Het

Other mutations in Ddx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Ddx4	APN	13	112,761,311 (GRCm39)	splice site	probably benign
IGL02682:Ddx4	APN	13	112,758,720 (GRCm39)	missense	probably benign	0.04
IGL02729:Ddx4	APN	13	112,787,946 (GRCm39)	utr 5 prime	probably benign
H8930:Ddx4	UTSW	13	112,750,367 (GRCm39)	splice site	probably null
R0518:Ddx4	UTSW	13	112,761,313 (GRCm39)	critical splice donor site	probably null
R0521:Ddx4	UTSW	13	112,761,313 (GRCm39)	critical splice donor site	probably null
R1527:Ddx4	UTSW	13	112,758,773 (GRCm39)	missense	possibly damaging	0.95
R1548:Ddx4	UTSW	13	112,736,531 (GRCm39)	missense	probably damaging	1.00
R1773:Ddx4	UTSW	13	112,736,436 (GRCm39)	missense	probably benign
R1886:Ddx4	UTSW	13	112,759,199 (GRCm39)	missense	probably damaging	1.00
R1969:Ddx4	UTSW	13	112,757,276 (GRCm39)	missense	probably damaging	0.99
R1969:Ddx4	UTSW	13	112,736,547 (GRCm39)	missense	probably damaging	0.99
R1970:Ddx4	UTSW	13	112,736,547 (GRCm39)	missense	probably damaging	0.99
R1971:Ddx4	UTSW	13	112,736,547 (GRCm39)	missense	probably damaging	0.99
R2280:Ddx4	UTSW	13	112,757,190 (GRCm39)	missense	probably benign	0.03
R2846:Ddx4	UTSW	13	112,741,146 (GRCm39)	missense	probably damaging	0.99
R2906:Ddx4	UTSW	13	112,757,311 (GRCm39)	splice site	probably benign
R2980:Ddx4	UTSW	13	112,748,619 (GRCm39)	missense	probably damaging	1.00
R3732:Ddx4	UTSW	13	112,748,516 (GRCm39)	missense	possibly damaging	0.56
R4085:Ddx4	UTSW	13	112,750,295 (GRCm39)	missense	probably benign	0.05
R4088:Ddx4	UTSW	13	112,750,295 (GRCm39)	missense	probably benign	0.05
R4089:Ddx4	UTSW	13	112,750,295 (GRCm39)	missense	probably benign	0.05
R4090:Ddx4	UTSW	13	112,750,295 (GRCm39)	missense	probably benign	0.05
R4600:Ddx4	UTSW	13	112,748,594 (GRCm39)	missense	probably damaging	1.00
R4610:Ddx4	UTSW	13	112,748,594 (GRCm39)	missense	probably damaging	1.00
R4669:Ddx4	UTSW	13	112,758,778 (GRCm39)	missense	probably damaging	1.00
R4700:Ddx4	UTSW	13	112,750,269 (GRCm39)	missense	probably damaging	1.00
R4782:Ddx4	UTSW	13	112,787,894 (GRCm39)	missense	probably benign	0.10
R4782:Ddx4	UTSW	13	112,750,230 (GRCm39)	critical splice donor site	probably null
R5326:Ddx4	UTSW	13	112,757,779 (GRCm39)	missense	probably damaging	1.00
R5542:Ddx4	UTSW	13	112,757,779 (GRCm39)	missense	probably damaging	1.00
R6111:Ddx4	UTSW	13	112,757,766 (GRCm39)	nonsense	probably null
R6253:Ddx4	UTSW	13	112,772,557 (GRCm39)	missense	probably benign	0.00
R6253:Ddx4	UTSW	13	112,772,556 (GRCm39)	nonsense	probably null
R6286:Ddx4	UTSW	13	112,750,269 (GRCm39)	missense	probably damaging	1.00
R6518:Ddx4	UTSW	13	112,741,081 (GRCm39)	missense	probably benign
R6645:Ddx4	UTSW	13	112,777,708 (GRCm39)	missense	possibly damaging	0.70
R7017:Ddx4	UTSW	13	112,738,022 (GRCm39)	missense	probably damaging	1.00
R7155:Ddx4	UTSW	13	112,750,319 (GRCm39)	missense	probably benign	0.01
R7822:Ddx4	UTSW	13	112,748,647 (GRCm39)	missense	probably damaging	1.00
R7921:Ddx4	UTSW	13	112,738,041 (GRCm39)	missense	probably benign
R8041:Ddx4	UTSW	13	112,762,928 (GRCm39)	missense	probably benign
R8048:Ddx4	UTSW	13	112,758,706 (GRCm39)	missense	probably null	1.00
R8939:Ddx4	UTSW	13	112,758,823 (GRCm39)	missense	probably benign	0.21
R9325:Ddx4	UTSW	13	112,736,441 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGACCGTGAATCCTAATGATGG -3'
(R):5'- AGTTTAAGGTTCCCTCCAACAG -3'

Sequencing Primer
(F):5'- CCGTGAATCCTAATGATGGCTCAG -3'
(R):5'- CAGAGGATGTTTATGGAATGGTGAGC -3'

Posted On

2014-10-16