Mutagenetix > Incidental Mutations

Incidental Mutation 'R4085:Ddx4'

317105

Institutional Source

Beutler Lab

Gene Symbol

Ddx4

Ensembl Gene

ENSMUSG00000021758

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 4

Synonyms

Mvh, VASA, mvh / m'vasa

MMRRC Submission

040979-MU

Accession Numbers

Genbank: NM_001145885, NM_010029

Is this an essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R4085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112598333-112652475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112613761 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 386 (V386A)

Ref Sequence

ENSEMBL: ENSMUSP00000075157 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075748
AA Change: V386A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: V386A

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: V412A

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: V412A

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

Meta Mutation Damage Score

0.0752

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Abca15	T	C	7: 120,382,726	V1088A	probably damaging	Het
Adgrl3	A	G	5: 81,512,544	I319V	probably benign	Het
Atraid	A	T	5: 31,052,306		probably benign	Het
Aurkaip1	A	T	4: 155,832,905	K172N	probably benign	Het
Bicd2	T	A	13: 49,384,962		probably null	Het
Ccr1	C	T	9: 123,963,950	R181H	probably benign	Het
Cep250	G	A	2: 155,992,632	R2159K	probably damaging	Het
Cldn34c4	A	T	X: 127,721,388	V153E	probably damaging	Het
Col4a4	C	A	1: 82,471,188		probably null	Het
Coro1b	T	C	19: 4,153,619	V451A	probably benign	Het
Dcc	T	A	18: 71,826,169	Q177H	probably benign	Het
Dynlrb1	G	T	2: 155,249,976		probably benign	Het
Ehbp1	A	T	11: 22,095,898	L592Q	possibly damaging	Het
Fam20b	T	C	1: 156,705,875	D57G	probably benign	Het
Fbxo33	A	G	12: 59,200,805		probably benign	Het
Fndc4	A	G	5: 31,293,777	I190T	probably damaging	Het
Gad1	G	T	2: 70,589,848	A359S	probably benign	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm43517	A	G	12: 49,391,114		probably benign	Het
Hectd1	A	T	12: 51,774,750	V1052D	possibly damaging	Het
Herc6	G	A	6: 57,647,069	C608Y	probably benign	Het
Itpr2	T	A	6: 146,144,248	D2573V	probably damaging	Het
Kank2	A	G	9: 21,795,119	L201P	probably damaging	Het
Kdm1a	A	C	4: 136,551,962	Y762*	probably null	Het
Mef2c	C	T	13: 83,575,702	T9M	probably damaging	Het
Ndst4	A	G	3: 125,609,482	I413V	probably benign	Het
Nlrp1b	T	C	11: 71,161,762	T947A	probably damaging	Het
Nlrp5	C	A	7: 23,430,098	N863K	probably damaging	Het
Olfr1383	T	C	11: 49,524,128	I135T	probably benign	Het
Opn1sw	A	G	6: 29,380,144	I91T	possibly damaging	Het
Pmfbp1	A	G	8: 109,494,947	K15E	possibly damaging	Het
Ppp3cb	A	G	14: 20,508,543	C484R	possibly damaging	Het
Rassf2	C	A	2: 132,004,379	G153C	probably damaging	Het
Rbm15b	T	C	9: 106,885,737	N411D	possibly damaging	Het
Rbm47	A	G	5: 66,022,737	M409T	probably benign	Het
Sall1	C	T	8: 89,028,509	V1281M	probably benign	Het
Sall3	A	T	18: 80,972,133	M860K	probably damaging	Het
Sik2	A	T	9: 50,935,385		probably benign	Het
Sim2	A	G	16: 94,109,354	Y205C	possibly damaging	Het
Styxl1	G	A	5: 135,759,165	T92I	unknown	Het
Sypl2	A	G	3: 108,217,676	I123T	possibly damaging	Het
Taok2	T	C	7: 126,874,725	E403G	possibly damaging	Het
Tedc2	A	T	17: 24,219,839	V168E	probably benign	Het
Tle6	A	G	10: 81,594,515		probably null	Het
Traf3ip3	A	G	1: 193,181,320	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709	T110S	probably benign	Het
Ucp1	T	C	8: 83,293,951	I130T	probably benign	Het
Urb2	A	G	8: 124,030,941	H1129R	probably benign	Het
Vmn2r111	C	T	17: 22,559,115	G528R	probably benign	Het
Wbp2nl	A	G	15: 82,308,561	M149V	probably benign	Het
Xdh	A	T	17: 73,916,879	M506K	probably benign	Het

Other mutations in Ddx4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02030:Ddx4	APN	13	112624777	splice site	probably benign
IGL02682:Ddx4	APN	13	112622186	missense	probably benign	0.04
IGL02729:Ddx4	APN	13	112651412	utr 5 prime	probably benign
H8930:Ddx4	UTSW	13	112613833	splice site	probably null
R0518:Ddx4	UTSW	13	112624779	critical splice donor site	probably null
R0521:Ddx4	UTSW	13	112624779	critical splice donor site	probably null
R1527:Ddx4	UTSW	13	112622239	missense	possibly damaging	0.95
R1548:Ddx4	UTSW	13	112599997	missense	probably damaging	1.00
R1773:Ddx4	UTSW	13	112599902	missense	probably benign
R1886:Ddx4	UTSW	13	112622665	missense	probably damaging	1.00
R1969:Ddx4	UTSW	13	112600013	missense	probably damaging	0.99
R1969:Ddx4	UTSW	13	112620742	missense	probably damaging	0.99
R1970:Ddx4	UTSW	13	112600013	missense	probably damaging	0.99
R1971:Ddx4	UTSW	13	112600013	missense	probably damaging	0.99
R2265:Ddx4	UTSW	13	112621276	missense	probably benign	0.08
R2280:Ddx4	UTSW	13	112620656	missense	probably benign	0.03
R2846:Ddx4	UTSW	13	112604612	missense	probably damaging	0.99
R2906:Ddx4	UTSW	13	112620777	splice site	probably benign
R2980:Ddx4	UTSW	13	112612085	missense	probably damaging	1.00
R3732:Ddx4	UTSW	13	112611982	missense	possibly damaging	0.56
R4088:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
R4089:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
R4090:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
R4600:Ddx4	UTSW	13	112612060	missense	probably damaging	1.00
R4610:Ddx4	UTSW	13	112612060	missense	probably damaging	1.00
R4669:Ddx4	UTSW	13	112622244	missense	probably damaging	1.00
R4700:Ddx4	UTSW	13	112613735	missense	probably damaging	1.00
R4782:Ddx4	UTSW	13	112613696	critical splice donor site	probably null
R4782:Ddx4	UTSW	13	112651360	missense	probably benign	0.10
R5326:Ddx4	UTSW	13	112621245	missense	probably damaging	1.00
R5542:Ddx4	UTSW	13	112621245	missense	probably damaging	1.00
R6111:Ddx4	UTSW	13	112621232	nonsense	probably null
R6253:Ddx4	UTSW	13	112636022	nonsense	probably null
R6253:Ddx4	UTSW	13	112636023	missense	probably benign	0.00
R6286:Ddx4	UTSW	13	112613735	missense	probably damaging	1.00
R6518:Ddx4	UTSW	13	112604547	missense	probably benign
R6645:Ddx4	UTSW	13	112641174	missense	possibly damaging	0.70
R7017:Ddx4	UTSW	13	112601488	missense	probably damaging	1.00
R7155:Ddx4	UTSW	13	112613785	missense	probably benign	0.01
R7822:Ddx4	UTSW	13	112612113	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCTCGTTTTGTTTCCACAAG -3'
(R):5'- GCAAACAGGTTGAGTCTTGTCC -3'

Sequencing Primer
(F):5'- GGAAAATGCTATTATCCTGTGCG -3'
(R):5'- GTGTAAGAGCTGTGGTCAT -3'

Posted On

2015-05-15