Mutagenetix > Incidental Mutation

Incidental Mutation 'R1886:Ddx4'

209582

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

039907-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.686) question?

Stock #

R1886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112734867-112789009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112759199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 237 (D237E)

Ref Sequence

ENSEMBL: ENSMUSP00000096769 (fasta)

Gene Model

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

AlphaFold

Q61496

Predicted Effect

probably damaging
Transcript: ENSMUST00000075748
AA Change: D211E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: D211E

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 damaging
Transcript: ENSMUST00000099166
AA Change: D237E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: D237E

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: 97.2%
3x: 96.2%
10x: 93.1%
20x: 85.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acacb	T	A	5: 114,357,020 (GRCm39)	L1317Q	probably damaging	Het
Acsf3	T	C	8: 123,510,741 (GRCm39)	V293A	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Ahnak	G	A	19: 8,993,343 (GRCm39)	D4876N	probably damaging	Het
Ap2b1	T	A	11: 83,281,561 (GRCm39)	N822K	probably damaging	Het
Arhgdia	T	C	11: 120,470,244 (GRCm39)	D143G	probably benign	Het
Bcl9	G	T	3: 97,122,713 (GRCm39)	R29S	probably benign	Het
Bhmt2	T	A	13: 93,798,998 (GRCm39)	K274N	probably benign	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cfap299	A	G	5: 98,949,690 (GRCm39)	N208S	probably benign	Het
Cit	A	G	5: 116,071,545 (GRCm39)	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,828,059 (GRCm39)	M77T	probably benign	Het
Dach2	G	A	X: 112,208,305 (GRCm39)	G61D	probably benign	Het
Dgcr8	A	G	16: 18,096,218 (GRCm39)	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Dnah17	T	A	11: 117,998,987 (GRCm39)	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,539,958 (GRCm39)	T289A	probably benign	Het
Ercc5	A	T	1: 44,215,136 (GRCm39)	K890*	probably null	Het
Esrp2	A	T	8: 106,860,489 (GRCm39)	V247E	probably damaging	Het
Evpl	C	T	11: 116,118,402 (GRCm39)	G735E	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxl21	A	G	13: 56,674,906 (GRCm39)	I60V	probably benign	Het
Frem3	A	G	8: 81,340,514 (GRCm39)	I936V	probably benign	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gad1-ps	T	C	10: 99,281,444 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gmppa	T	C	1: 75,419,152 (GRCm39)	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,453,046 (GRCm39)	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Krt12	T	C	11: 99,309,402 (GRCm39)	D286G	probably damaging	Het
Krt75	A	T	15: 101,479,532 (GRCm39)	M266K	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Lag3	T	C	6: 124,886,402 (GRCm39)	N184D	probably damaging	Het
Lsm10	C	G	4: 125,991,741 (GRCm39)	D32E	probably benign	Het
Mettl5	A	G	2: 69,711,149 (GRCm39)	V123A	probably damaging	Het
Mfrp	A	G	9: 44,014,785 (GRCm39)	D274G	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Mplkipl1	A	G	19: 61,164,136 (GRCm39)	F100L	probably damaging	Het
Mttp	A	T	3: 137,798,376 (GRCm39)	V840D	probably damaging	Het
Nadk2	A	C	15: 9,103,446 (GRCm39)	N308H	possibly damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlk	T	A	11: 78,477,754 (GRCm39)	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5p73	A	T	7: 108,064,947 (GRCm39)	M139L	probably benign	Het
Orc2	T	C	1: 58,510,247 (GRCm39)		probably null	Het
Orc3	A	G	4: 34,584,829 (GRCm39)	Y459H	probably damaging	Het
Pah	T	A	10: 87,364,190 (GRCm39)	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,164,794 (GRCm39)	K74E	probably benign	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pfkm	A	G	15: 98,025,627 (GRCm39)	N547S	probably damaging	Het
Por	A	G	5: 135,763,128 (GRCm39)	E546G	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Prdm1	T	A	10: 44,315,754 (GRCm39)	D794V	probably damaging	Het
Prdx5	A	G	19: 6,885,558 (GRCm39)	I32T	probably benign	Het
Prlhr	G	T	19: 60,455,932 (GRCm39)	C211*	probably null	Het
Ripk3	C	T	14: 56,025,694 (GRCm39)		probably null	Het
Rmnd5b	G	A	11: 51,518,465 (GRCm39)	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,234,013 (GRCm39)	F72I	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Septin1	A	G	7: 126,813,937 (GRCm39)		probably benign	Het
Serpinb9h	C	T	13: 33,588,203 (GRCm39)	R263C	possibly damaging	Het
Slc30a10	T	A	1: 185,195,061 (GRCm39)	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,152,827 (GRCm39)	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,152,828 (GRCm39)	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Sra1	T	C	18: 36,801,830 (GRCm39)	M87V	probably benign	Het
Syvn1	T	C	19: 6,099,257 (GRCm39)	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,817,151 (GRCm39)	I236F	probably damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Trpa1	T	C	1: 14,959,649 (GRCm39)	D679G	probably benign	Het
Ttc22	T	A	4: 106,494,063 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp36	A	T	11: 118,163,784 (GRCm39)	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,558,960 (GRCm39)	Y96N	probably benign	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
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
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'- ATGGAGTCCTCATCCTCTGGTG -3'
(R):5'- CCCAGCTTTGCGTCATAATTG -3'

Sequencing Primer
(F):5'- GGGGTATATATGTCACTTTTGGACC -3'
(R):5'- GCGTCATAATTGATTATCACTCTGG -3'

Posted On

2014-06-30