Mutagenetix > Incidental Mutation

Incidental Mutation 'R3732:Ddx4'

356397

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

040720-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.686) question?

Stock #

R3732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112734867-112789009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112748516 bp (GRCm39)

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
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Ablim1	A	T	19: 57,037,892 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,983,472 (GRCm39)	G70E	probably damaging	Het
Adgrl3	C	A	5: 81,942,793 (GRCm39)	H1474Q	probably benign	Het
Adgrv1	T	C	13: 81,705,075 (GRCm39)	I1578M	probably damaging	Het
Afg3l1	G	A	8: 124,227,972 (GRCm39)	G547D	probably damaging	Het
Ambra1	G	A	2: 91,640,476 (GRCm39)	R635H	probably damaging	Het
Araf	TACACACACACACACACA	TACACACACACACACA	X: 20,716,465 (GRCm39)		probably benign	Het
Arhgef10l	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	4: 140,308,930 (GRCm39)		probably benign	Het
Bcl7b	A	G	5: 135,209,767 (GRCm39)	T141A	probably benign	Het
Calm5	T	A	13: 3,904,337 (GRCm39)	N10K	probably damaging	Het
Camsap1	T	C	2: 25,828,356 (GRCm39)	R1123G	probably damaging	Het
Cfap97d1	C	T	11: 101,879,278 (GRCm39)	Q17*	probably null	Het
Chrna3	T	C	9: 54,923,178 (GRCm39)	K210R	probably benign	Het
Ciz1	A	G	2: 32,257,495 (GRCm39)	N180S	possibly damaging	Het
Cntnap3	G	A	13: 64,888,813 (GRCm39)	A1162V	possibly damaging	Het
Cox5b	C	T	1: 36,732,341 (GRCm39)	P114L	probably damaging	Het
Cpsf2	T	C	12: 101,953,567 (GRCm39)	I199T	probably damaging	Het
Cyp2a4	A	G	7: 26,012,252 (GRCm39)	D345G	probably damaging	Het
Cyp2s1	C	T	7: 25,503,379 (GRCm39)	R424Q	probably null	Het
D1Pas1	C	A	1: 186,700,294 (GRCm39)	S74R	probably benign	Het
Dnah5	A	T	15: 28,409,268 (GRCm39)	E3562V	possibly damaging	Het
Dpf3	T	C	12: 83,316,281 (GRCm39)	D330G	possibly damaging	Het
Edem1	T	C	6: 108,818,582 (GRCm39)	F197L	probably damaging	Het
Eeig1	G	A	2: 32,456,304 (GRCm39)	S322N	probably benign	Het
Ergic2	T	C	6: 148,104,020 (GRCm39)	D79G	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam111a	T	C	19: 12,564,914 (GRCm39)	L221P	possibly damaging	Het
Fat1	T	C	8: 45,406,306 (GRCm39)	V1019A	possibly damaging	Het
Fbxl21	T	A	13: 56,674,830 (GRCm39)	H60Q	probably benign	Het
Fbxw7	A	C	3: 84,833,014 (GRCm39)	K19Q	possibly damaging	Het
Gldn	A	G	9: 54,245,946 (GRCm39)	K499R	possibly damaging	Het
Gria4	C	T	9: 4,513,295 (GRCm39)	M271I	probably benign	Het
Herc1	C	T	9: 66,352,922 (GRCm39)	T2136I	probably damaging	Het
Igsf10	A	G	3: 59,233,135 (GRCm39)	F1866S	probably benign	Het
Iqcg	G	T	16: 32,873,996 (GRCm39)		probably benign	Het
Itih2	A	T	2: 10,110,481 (GRCm39)	F537I	probably benign	Het
Itpr2	T	C	6: 146,284,198 (GRCm39)	D533G	probably damaging	Het
Kcnk15	A	G	2: 163,695,733 (GRCm39)	K22E	probably benign	Het
Lag3	A	T	6: 124,887,103 (GRCm39)	S155T	probably benign	Het
Lars1	T	C	18: 42,345,667 (GRCm39)	E1003G	probably benign	Het
Layn	T	A	9: 50,970,844 (GRCm39)	N233I	probably damaging	Het
Ldhb-ps	T	G	19: 21,915,616 (GRCm39)		noncoding transcript	Het
Lgi1	T	C	19: 38,294,694 (GRCm39)	Y465H	probably damaging	Het
Lrig1	C	T	6: 94,588,557 (GRCm39)	A531T	possibly damaging	Het
Lrrtm4	A	G	6: 79,996,638 (GRCm39)		probably benign	Het
Lsamp	T	A	16: 41,964,935 (GRCm39)	L264H	probably damaging	Het
Mthfd2	T	C	6: 83,290,457 (GRCm39)	E39G	probably damaging	Het
Mtx2	C	A	2: 74,677,606 (GRCm39)	A22E	probably damaging	Het
Nipal3	T	C	4: 135,191,157 (GRCm39)	T325A	probably damaging	Het
Nlrp14	A	T	7: 106,781,574 (GRCm39)	Y257F	probably benign	Het
Ola1	G	C	2: 72,987,204 (GRCm39)	R143G	probably damaging	Het
Or14c44	T	G	7: 86,061,841 (GRCm39)	I90M	probably damaging	Het
Otog	A	G	7: 45,937,792 (GRCm39)	T1834A	probably benign	Het
Oxr1	T	C	15: 41,712,097 (GRCm39)	I656T	probably damaging	Het
Panx1	GTTCTTCT	GTTCT	9: 14,917,467 (GRCm39)		probably benign	Het
Pcdh18	T	C	3: 49,709,240 (GRCm39)	S692G	probably benign	Het
Pcdhga1	A	G	18: 37,797,176 (GRCm39)	T727A	probably benign	Het
Pde9a	A	G	17: 31,667,401 (GRCm39)	E3G	possibly damaging	Het
Prl8a1	T	C	13: 27,763,716 (GRCm39)	E37G	probably damaging	Het
Rlf	C	T	4: 121,005,521 (GRCm39)	G1153D	probably benign	Het
Robo2	A	C	16: 73,717,635 (GRCm39)	L1159W	possibly damaging	Het
Sfxn5	T	C	6: 85,276,258 (GRCm39)		probably benign	Het
Siah2	A	G	3: 58,583,671 (GRCm39)	V205A	probably damaging	Het
Spindoc	A	C	19: 7,351,666 (GRCm39)	L202R	probably damaging	Het
Spock3	T	A	8: 63,798,733 (GRCm39)	D251E	probably damaging	Het
Srp68	T	A	11: 116,164,782 (GRCm39)	K51*	probably null	Het
Ssbp2	T	C	13: 91,672,726 (GRCm39)	Y29H	probably damaging	Het
Sspo	T	C	6: 48,426,864 (GRCm39)	V231A	probably damaging	Het
Stk4	T	A	2: 163,930,828 (GRCm39)	M143K	probably benign	Het
Tecta	C	T	9: 42,303,402 (GRCm39)	V77M	possibly damaging	Het
Trpc3	A	T	3: 36,692,708 (GRCm39)	D761E	probably benign	Het
Tubb2a	T	C	13: 34,259,247 (GRCm39)	E181G	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	C	A	1: 188,676,957 (GRCm39)	N4756K	probably benign	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Wapl	G	A	14: 34,458,721 (GRCm39)	V928I	probably damaging	Het
Zfand3	A	G	17: 30,411,630 (GRCm39)	K130R	probably benign	Het
Zfp934	A	T	13: 62,665,599 (GRCm39)	H347Q	probably 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
R2265:Ddx4	UTSW	13	112,757,810 (GRCm39)	missense	probably benign	0.08
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
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'- TTGTGCATAGGGAGGCCA -3'
(R):5'- TGTGGAGCATATTTTAGCTTAATGT -3'

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

Posted On

2015-11-11