Mutagenetix > Incidental Mutations

Incidental Mutation 'R8048:Ddx4'

618892

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

Accession Numbers

Genbank: NM_001145885, NM_010029

Is this an essential gene?

Possibly essential (E-score: 0.638) question?

Stock #

R8048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112598333-112652475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112622172 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 285 (A285V)

Ref Sequence

ENSEMBL: ENSMUSP00000096769 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075748
AA Change: A259V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: A259V

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 null
Transcript: ENSMUST00000099166
AA Change: A285V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: A285V

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (65/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,410,844	L318F	probably damaging	Het
Alms1	T	A	6: 85,641,334	S2318R	probably benign	Het
Arhgap12	G	A	18: 6,052,883	T443I	probably benign	Het
Arhgap29	C	T	3: 121,992,901	R372W	probably damaging	Het
Astn1	T	C	1: 158,688,638	I1266T	probably benign	Het
Bsg	T	C	10: 79,709,746	V164A	probably benign	Het
C1qa	G	T	4: 136,896,610	S94R	probably benign	Het
Cadps2	A	G	6: 23,838,863	V92A	probably benign	Het
Ccdc187	T	A	2: 26,293,514	D158V	possibly damaging	Het
Cngb1	T	A	8: 95,263,210	Y758F	possibly damaging	Het
Dsg1c	A	T	18: 20,274,767	K390M	probably damaging	Het
Dst	T	C	1: 34,190,636	F2437L	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Fam227a	CATTGTCTTGA	CA	15: 79,649,758		probably null	Het
Fez2	T	C	17: 78,387,053	I303V	probably benign	Het
Ffar1	A	T	7: 30,860,578	I298N	probably benign	Het
Hpx	C	T	7: 105,595,478	V228I	probably benign	Het
Igkv1-117	T	G	6: 68,121,802	C112G	probably damaging	Het
Il3ra	A	G	14: 14,348,903	D99G	probably benign	Het
Ivl	T	A	3: 92,571,924	K278M	probably damaging	Het
Lyst	A	G	13: 13,687,645	T2589A	probably benign	Het
Madd	A	T	2: 91,154,448	M1359K	probably damaging	Het
Nav3	T	C	10: 109,764,918	T1283A	probably benign	Het
Ncapd2	G	T	6: 125,179,698	C439*	probably null	Het
Nebl	T	C	2: 17,424,522	D266G	probably benign	Het
Oas1f	G	T	5: 120,847,537	G49V	probably damaging	Het
Oas1f	A	T	5: 120,848,416	Q144L	possibly damaging	Het
Olfr1032	T	G	2: 86,008,180	S135A	probably damaging	Het
Olfr1052	C	T	2: 86,298,328	P171S	probably benign	Het
Olfr1062	T	A	2: 86,423,307	Y123F	probably damaging	Het
Olfr134	T	C	17: 38,175,528	V148A	probably benign	Het
Olfr141	T	A	2: 86,806,171	Y276F	probably damaging	Het
Olfr1440	A	G	19: 12,394,355	I31V	not run	Het
Olfr324	A	G	11: 58,597,407	I6V	unknown	Het
Olfr711	C	T	7: 106,972,464		probably benign	Het
Olfr740	T	C	14: 50,453,916	L288P	possibly damaging	Het
Olfr917	C	T	9: 38,665,812	E11K	probably benign	Het
Pard3b	T	A	1: 62,153,989	V217E	probably damaging	Het
Pcdha2	T	A	18: 36,939,460	I48N	probably damaging	Het
Pi4ka	A	G	16: 17,303,127	F1248L		Het
Plekha2	A	T	8: 25,063,989		probably benign	Het
Plpp4	C	T	7: 129,379,477	R151C	unknown	Het
Pramef17	T	A	4: 143,991,607	Y422F	probably benign	Het
Prdm16	A	G	4: 154,320,882	L1245P	probably damaging	Het
Prob1	G	A	18: 35,653,551	A550V	probably benign	Het
Prok1	T	C	3: 107,237,092	H65R	probably benign	Het
Ptcd1	A	G	5: 145,155,077	V404A	probably benign	Het
Sbf2	T	C	7: 110,315,082	E1631G	probably benign	Het
Sdad1	C	A	5: 92,300,089	K262N	probably benign	Het
Sh3bp1	G	T	15: 78,910,072	A547S	probably benign	Het
Sptb	T	C	12: 76,628,559	D227G	probably benign	Het
Tbx1	A	G	16: 18,588,019	M1T	probably null	Het
Tespa1	T	A	10: 130,347,339	V51D	probably damaging	Het
Tmc7	T	C	7: 118,566,245	N82S	probably benign	Het
Tmem8b	A	G	4: 43,689,476	D290G	possibly damaging	Het
Trbv13-2	A	T	6: 41,121,559	T23S	probably damaging	Het
Trib3	A	T	2: 152,338,633	D213E	probably damaging	Het
Tubgcp4	T	C	2: 121,183,500	V178A	probably benign	Het
Virma	T	A	4: 11,539,918	C1412*	probably null	Het
Vmn2r108	T	C	17: 20,471,500	T254A	probably benign	Het
Vps13d	A	G	4: 145,155,567	V1152A		Het
Wdr47	T	C	3: 108,618,968	V269A	probably damaging	Het
Zc3h13	T	A	14: 75,324,537	D676E	unknown	Het
Zc3h6	T	A	2: 129,017,014	S988R	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
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

Predicted Primers

PCR Primer
(F):5'- TAGAGATGAATTCCAGCACTTCCTC -3'
(R):5'- ATCTAGCTGAGTATGCACTGC -3'

Sequencing Primer
(F):5'- CTCTTTTGATACAGCAATCCAACTG -3'
(R):5'- ACTGCATTTCCCTAAAGTCGGG -3'

Posted On

2020-01-23