Mutagenetix > Incidental Mutation

Incidental Mutation 'R3781:Ddx5'

272055

Institutional Source

Beutler Lab

Gene Symbol

Ddx5

Ensembl Gene

ENSMUSG00000020719

Gene Name

DEAD box helicase 5

Synonyms

2600009A06Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 5, Hlr1, p68

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106671181-106680011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106675346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 330 (I330V)

Ref Sequence

ENSEMBL: ENSMUSP00000021062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018516] [ENSMUST00000021062] [ENSMUST00000103068] [ENSMUST00000123339] [ENSMUST00000127061] [ENSMUST00000133426] [ENSMUST00000127481] [ENSMUST00000129585]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018516

SMART Domains

Protein: ENSMUSP00000018516
Gene: ENSMUSG00000018372

Domain	Start	End	E-Value	Type
low complexity region	389	407	N/A	INTRINSIC
coiled coil region	584	633	N/A	INTRINSIC
coiled coil region	701	793	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000021062
AA Change: I330V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719
AA Change: I330V

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
Blast:DEXDc	24	86	9e-31	BLAST
DEXDc	113	316	7.67e-64	SMART
HELICc	355	436	3.57e-32	SMART
low complexity region	477	496	N/A	INTRINSIC
Pfam:P68HR	498	532	8e-20	PFAM
Pfam:P68HR	551	583	5.2e-20	PFAM
low complexity region	592	603	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103068

SMART Domains

Protein: ENSMUSP00000099357
Gene: ENSMUSG00000018372

Domain	Start	End	E-Value	Type
low complexity region	346	364	N/A	INTRINSIC
coiled coil region	541	590	N/A	INTRINSIC
coiled coil region	658	750	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106779

SMART Domains

Protein: ENSMUSP00000102391
Gene: ENSMUSG00000020719

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
Blast:DEXDc	24	86	3e-38	BLAST
PDB:4A4D\|A	52	86	4e-17	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000123339

SMART Domains

Protein: ENSMUSP00000121733
Gene: ENSMUSG00000020719

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
Blast:DEXDc	24	86	7e-37	BLAST
Pfam:DEAD	118	161	1.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127061

SMART Domains

Protein: ENSMUSP00000117441
Gene: ENSMUSG00000020718

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDB:1G5I\|D	17	170	1e-100	PDB
SCOP:d1g5ha2	41	163	1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133426
AA Change: I330V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719
AA Change: I330V

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
Blast:DEXDc	24	86	2e-31	BLAST
DEXDc	113	316	7.67e-64	SMART
Pfam:Helicase_C	359	406	1.6e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130019

Predicted Effect

probably benign
Transcript: ENSMUST00000127481

SMART Domains

Protein: ENSMUSP00000138184
Gene: ENSMUSG00000020719

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
Blast:DEXDc	24	70	2e-26	BLAST
PDB:4A4D\|A	52	70	3e-7	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000129585

SMART Domains

Protein: ENSMUSP00000116859
Gene: ENSMUSG00000020719

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
Blast:DEXDc	24	86	8e-37	BLAST
Pfam:DEAD	118	183	7.2e-15	PFAM

Meta Mutation Damage Score

0.0719

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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 RNA-dependent ATPase, and also a proliferation-associated nuclear antigen, specifically reacting with the simian virus 40 tumor antigen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter/null allele die around E11.5 displaying blood vessel malformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bap1	T	C	14: 30,979,575 (GRCm39)	I526T	possibly damaging	Het
Calcr	T	C	6: 3,700,193 (GRCm39)	T263A	possibly damaging	Het
Cdh20	T	A	1: 109,976,734 (GRCm39)	V133E	probably benign	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Gnl2	T	C	4: 124,931,399 (GRCm39)	V110A	probably damaging	Het
H2-Q10	A	G	17: 35,781,915 (GRCm39)	Y179C	possibly damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Map3k20	A	G	2: 72,232,699 (GRCm39)		probably benign	Het
Mcm7	G	A	5: 138,162,998 (GRCm39)	R385W	probably damaging	Het
Mgat4c	A	G	10: 102,224,782 (GRCm39)	E332G	probably benign	Het
Nudt3	A	G	17: 27,799,782 (GRCm39)	S134P	possibly damaging	Het
Or1e26	C	A	11: 73,479,839 (GRCm39)	G242C	probably damaging	Het
Or1e26	A	T	11: 73,480,194 (GRCm39)	Y123*	probably null	Het
Or4c100	A	T	2: 88,356,709 (GRCm39)	T261S	probably benign	Het
Or4c107	G	T	2: 88,789,091 (GRCm39)	E94*	probably null	Het
Or51h7	T	C	7: 102,591,278 (GRCm39)	I169V	probably benign	Het
Pcnx1	A	G	12: 82,042,892 (GRCm39)	T2325A	probably benign	Het
Plekha6	A	G	1: 133,222,393 (GRCm39)	E993G	probably damaging	Het
Psmd4	T	A	3: 94,944,039 (GRCm39)	Y15F	probably benign	Het
Rad23b	C	T	4: 55,382,586 (GRCm39)	T263M	probably damaging	Het
Stpg3	T	A	2: 25,103,875 (GRCm39)	M154L	probably benign	Het
Vmn1r45	C	A	6: 89,910,799 (GRCm39)	R57L	probably benign	Het
Zfp658	G	A	7: 43,223,270 (GRCm39)	R515H	probably benign	Het

Other mutations in Ddx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Ddx5	APN	11	106,675,835 (GRCm39)	missense	probably damaging	0.99
IGL02975:Ddx5	APN	11	106,672,711 (GRCm39)	missense	probably benign	0.00
IGL03037:Ddx5	APN	11	106,672,930 (GRCm39)	missense	possibly damaging	0.82
IGL03046:Ddx5	UTSW	11	106,675,871 (GRCm39)	missense	probably damaging	1.00
R0544:Ddx5	UTSW	11	106,673,288 (GRCm39)	unclassified	probably benign
R1186:Ddx5	UTSW	11	106,674,805 (GRCm39)	splice site	probably null
R1464:Ddx5	UTSW	11	106,675,711 (GRCm39)	missense	probably benign	0.00
R1464:Ddx5	UTSW	11	106,675,711 (GRCm39)	missense	probably benign	0.00
R1839:Ddx5	UTSW	11	106,675,723 (GRCm39)	missense	probably benign	0.02
R3782:Ddx5	UTSW	11	106,675,346 (GRCm39)	missense	probably benign	0.00
R4968:Ddx5	UTSW	11	106,674,953 (GRCm39)	missense	probably damaging	1.00
R4973:Ddx5	UTSW	11	106,675,833 (GRCm39)	missense	possibly damaging	0.94
R4995:Ddx5	UTSW	11	106,676,062 (GRCm39)	missense	probably damaging	1.00
R5839:Ddx5	UTSW	11	106,673,032 (GRCm39)	missense	probably damaging	0.97
R6263:Ddx5	UTSW	11	106,679,139 (GRCm39)	missense	possibly damaging	0.83
R6314:Ddx5	UTSW	11	106,679,347 (GRCm39)	unclassified	probably benign
R6341:Ddx5	UTSW	11	106,676,368 (GRCm39)	splice site	probably null
R6707:Ddx5	UTSW	11	106,673,058 (GRCm39)	missense	probably benign	0.00
R7424:Ddx5	UTSW	11	106,673,006 (GRCm39)	missense	probably benign	0.12
R7910:Ddx5	UTSW	11	106,675,261 (GRCm39)	missense	probably damaging	1.00
R8145:Ddx5	UTSW	11	106,672,911 (GRCm39)	missense	probably benign	0.03
R8849:Ddx5	UTSW	11	106,675,975 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATATCACAGCGCATGATTCCC -3'
(R):5'- AACTTGCTTGGCTTGCATGAG -3'

Sequencing Primer
(F):5'- GCCCCAGATCAAAGTACT -3'
(R):5'- TTGGCTTGCATGAGGAAAACACTC -3'

Posted On

2015-03-25