Mutagenetix > Incidental Mutation

Incidental Mutation 'R4600:Ddx4'

345563

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R4600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112734867-112789009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112748594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 435 (K435E)

Ref Sequence

ENSEMBL: ENSMUSP00000075157 (fasta)

Gene Model

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

AlphaFold

Q61496

Predicted Effect

probably damaging
Transcript: ENSMUST00000075748
AA Change: K435E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: K435E

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: K461E

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: K461E

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

0.1913

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,195,037 (GRCm39)	F145L	possibly damaging	Het
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Ago1	C	A	4: 126,354,185 (GRCm39)	M208I	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Amfr	A	G	8: 94,700,849 (GRCm39)	L537P	probably damaging	Het
Apob	A	G	12: 8,058,568 (GRCm39)	D2317G	probably damaging	Het
Asb6	T	A	2: 30,714,483 (GRCm39)	D209V	probably damaging	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Baz2a	T	A	10: 127,957,052 (GRCm39)	C932S	probably damaging	Het
Btnl10	A	G	11: 58,814,426 (GRCm39)	I369V	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clic4	A	T	4: 134,966,300 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,709,626 (GRCm39)	S1857P	unknown	Het
Cracr2a	A	C	6: 127,580,851 (GRCm39)	D9A	probably benign	Het
Cspg4b	A	G	13: 113,455,783 (GRCm39)	R610G	possibly damaging	Het
Dcst1	T	C	3: 89,263,643 (GRCm39)	E384G	probably benign	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah3	T	A	7: 119,689,169 (GRCm39)	M82L	probably benign	Het
Dnhd1	G	T	7: 105,352,851 (GRCm39)	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,831,126 (GRCm39)	G596D	probably benign	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Fam181b	C	A	7: 92,729,992 (GRCm39)	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,372,924 (GRCm39)	D178E	probably benign	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,327,723 (GRCm39)	K54*	probably null	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705 (GRCm39)	A1569T	probably damaging	Het
Grik5	C	G	7: 24,767,489 (GRCm39)	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,805,302 (GRCm39)	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,126,994 (GRCm39)	A160P	possibly damaging	Het
Hydin	A	T	8: 111,293,582 (GRCm39)	T3510S	probably benign	Het
Ift70a1	T	C	2: 75,810,977 (GRCm39)	T369A	probably benign	Het
Itgb2	A	G	10: 77,381,949 (GRCm39)	I84V	probably benign	Het
Itsn1	A	G	16: 91,696,475 (GRCm39)	Q26R	probably damaging	Het
Kat6a	A	G	8: 23,429,327 (GRCm39)	S1561G	probably benign	Het
Khnyn	G	A	14: 56,124,438 (GRCm39)	V231I	probably benign	Het
Kif21b	A	G	1: 136,075,602 (GRCm39)	D243G	probably benign	Het
Klk4	T	A	7: 43,534,762 (GRCm39)	N240K	probably damaging	Het
Knl1	T	C	2: 118,901,025 (GRCm39)	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,373,528 (GRCm39)	D1419A	probably benign	Het
Lin9	T	A	1: 180,508,759 (GRCm39)	V421D	probably damaging	Het
Lipt2	T	C	7: 99,809,519 (GRCm39)	L202P	probably benign	Het
Mbd5	T	G	2: 49,147,209 (GRCm39)	M473R	probably benign	Het
Mcc	A	T	18: 44,652,587 (GRCm39)	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mylk2	G	A	2: 152,759,476 (GRCm39)	V389M	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nup160	T	A	2: 90,515,541 (GRCm39)		probably null	Het
Nup88	G	A	11: 70,860,522 (GRCm39)	R62*	probably null	Het
Or2g7	T	C	17: 38,378,853 (GRCm39)	S264P	probably damaging	Het
Or51af1	T	A	7: 103,141,788 (GRCm39)	Q99L	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Or8g33	A	G	9: 39,337,731 (GRCm39)	M212T	probably benign	Het
Os9	T	C	10: 126,934,223 (GRCm39)	N471S	probably benign	Het
Otof	C	T	5: 30,529,244 (GRCm39)	V1757M	probably damaging	Het
Pakap	A	T	4: 57,709,954 (GRCm39)	T300S	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pappa2	G	A	1: 158,642,015 (GRCm39)	S1347L	probably damaging	Het
Pccb	T	C	9: 100,916,832 (GRCm39)	T27A	probably benign	Het
Pde4dip	A	T	3: 97,603,260 (GRCm39)	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,571,254 (GRCm39)	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,070,120 (GRCm39)	P145L	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Slc46a2	C	T	4: 59,911,886 (GRCm39)	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,278,869 (GRCm39)	L301P	probably damaging	Het
Spg21	A	G	9: 65,383,257 (GRCm39)	T148A	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Sult1c2	C	A	17: 54,280,983 (GRCm39)	W40L	probably benign	Het
Sytl2	T	C	7: 90,024,977 (GRCm39)	S322P	probably benign	Het
Telo2	C	A	17: 25,324,122 (GRCm39)	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,131,897 (GRCm39)	V719A	probably damaging	Het
Tlr9	T	A	9: 106,101,732 (GRCm39)	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,024,548 (GRCm39)	N230D	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpo	C	T	12: 30,148,228 (GRCm39)	V558M	probably benign	Het
Trex1	T	G	9: 108,887,352 (GRCm39)	Q213P	possibly damaging	Het
Ttc7b	G	A	12: 100,466,376 (GRCm39)	R79C	probably damaging	Het
Ugt1a6a	A	G	1: 88,066,586 (GRCm39)	K131E	probably benign	Het
Vipr1	T	A	9: 121,494,202 (GRCm39)		probably null	Het
Vmn1r22	T	C	6: 57,877,860 (GRCm39)	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,522,046 (GRCm39)	C17S	probably benign	Het
Vps41	T	C	13: 18,929,453 (GRCm39)	Y63H	probably damaging	Het
Xdh	G	T	17: 74,217,195 (GRCm39)	T691N	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het
Zfp536	T	A	7: 37,267,918 (GRCm39)	K499N	probably damaging	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	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
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
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'- TTGTGCATAGGGAGGCCAGA -3'
(R):5'- GAGGTGTTCTTCCCAGCTGA -3'

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

Posted On

2015-09-25