Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Ddx4'

356397

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

040720-MU

Accession Numbers

Genbank: NM_001145885, NM_010029

Essential gene?

Possibly essential (E-score: 0.634) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112598333-112652475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112611982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 487 (I487F)

Ref Sequence

ENSEMBL: ENSMUSP00000096769 (fasta)

Gene Model

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

AlphaFold

Q61496

Predicted Effect

probably benign
Transcript: ENSMUST00000075748
AA Change: I461F

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: I461F

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

possibly damaging
Transcript: ENSMUST00000099166
AA Change: I487F

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: I487F

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

0.5796

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

93% (56/60)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	C	T	11: 101,988,452	Q17*	probably null	Het
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aacs	C	T	5: 125,506,262	T294M	probably damaging	Het
Ablim1	A	T	19: 57,049,460		probably null	Het
Adgrf4	C	T	17: 42,672,581	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,794,946	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,556,956	I1578M	probably damaging	Het
Afg3l1	G	A	8: 123,501,233	G547D	probably damaging	Het
Ambra1	G	A	2: 91,810,131	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,850,226		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,581,619		probably benign	Het
Bcl7b	A	G	5: 135,180,913	T141A	probably benign	Het
Calm5	T	A	13: 3,854,337	N10K	probably damaging	Het
Camsap1	T	C	2: 25,938,344	R1123G	probably damaging	Het
Chrna3	T	C	9: 55,015,894	K210R	probably benign	Het
Ciz1	A	G	2: 32,367,483	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,740,999	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,693,260	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,987,308	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,312,827	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,803,954	R424Q	probably null	Het
D1Pas1	C	A	1: 186,968,097	S74R	probably benign	Het
Dnah5	A	T	15: 28,409,122	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,269,507	D330G	possibly damaging	Het
Edem1	T	C	6: 108,841,621	F197L	probably damaging	Het
Ergic2	T	C	6: 148,202,522	D79G	probably damaging	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Fam102a	G	A	2: 32,566,292	S322N	probably benign	Het
Fam111a	T	C	19: 12,587,550	L221P	possibly damaging	Het
Fat1	T	C	8: 44,953,269	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,527,017	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,925,707	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,338,662	K499R	possibly damaging	Het
Gm5514	T	G	19: 21,938,252		noncoding transcript	Het
Gria4	C	T	9: 4,513,295	M271I	probably benign	Het
Herc1	C	T	9: 66,445,640	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,325,714	F1866S	probably benign	Het
Iqcg	G	T	16: 33,053,626		probably benign	Het
Itih2	A	T	2: 10,105,670	F537I	probably benign	Het
Itpr2	T	C	6: 146,382,700	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,853,813	K22E	probably benign	Het
Lag3	A	T	6: 124,910,140	S155T	probably benign	Het
Lars	T	C	18: 42,212,602	E1003G	probably benign	Het
Layn	T	A	9: 51,059,544	N233I	probably damaging	Het
Lgi1	T	C	19: 38,306,246	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,611,576	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 80,019,655		probably benign	Het
Lsamp	T	A	16: 42,144,572	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,313,475	E39G	probably damaging	Het
Mtx2	C	A	2: 74,847,262	A22E	probably damaging	Het
Nipal3	T	C	4: 135,463,846	T325A	probably damaging	Het
Nlrp14	A	T	7: 107,182,367	Y257F	probably benign	Het
Ola1	G	C	2: 73,156,860	R143G	probably damaging	Het
Olfr301	T	G	7: 86,412,633	I90M	probably damaging	Het
Otog	A	G	7: 46,288,368	T1834A	probably benign	Het
Oxr1	T	C	15: 41,848,701	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 15,006,171		probably benign	Het
Pcdh18	T	C	3: 49,754,791	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,664,123	T727A	probably benign	Het
Pde9a	A	G	17: 31,448,427	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,579,733	E37G	probably damaging	Het
Rlf	C	T	4: 121,148,324	G1153D	probably benign	Het
Robo2	A	C	16: 73,920,747	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,299,276		probably benign	Het
Siah2	A	G	3: 58,676,250	V205A	probably damaging	Het
Spindoc	A	C	19: 7,374,301	L202R	probably damaging	Het
Spock3	T	A	8: 63,345,699	D251E	probably damaging	Het
Srp68	T	A	11: 116,273,956	K51*	probably null	Het
Ssbp2	T	C	13: 91,524,607	Y29H	probably damaging	Het
Sspo	T	C	6: 48,449,930	V231A	probably damaging	Het
Stk4	T	A	2: 164,088,908	M143K	probably benign	Het
Tecta	C	T	9: 42,392,106	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,638,559	D761E	probably benign	Het
Tubb2a	T	C	13: 34,075,264	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Ush2a	C	A	1: 188,944,760	N4756K	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wapl	G	A	14: 34,736,764	V928I	probably damaging	Het
Zfand3	A	G	17: 30,192,656	K130R	probably benign	Het
Zfp934	A	T	13: 62,517,785	H347Q	probably damaging	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
R4085:Ddx4	UTSW	13	112613761	missense	probably benign	0.05
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
R7921:Ddx4	UTSW	13	112601507	missense	probably benign
R8041:Ddx4	UTSW	13	112626394	missense	probably benign
R8048:Ddx4	UTSW	13	112622172	missense	probably null	1.00
R8939:Ddx4	UTSW	13	112622289	missense	probably benign	0.21
R9325:Ddx4	UTSW	13	112599907	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTGTGCATAGGGAGGCCA -3'
(R):5'- TGTGGAGCATATTTTAGCTTAATGT -3'

Sequencing Primer
(F):5'- ACTGAAATCTGGGATCTGCC -3'
(R):5'- GGTTTTGGACCAGAGATG -3'

Posted On

2015-11-11