Mutagenetix > Incidental Mutation

Incidental Mutation 'R1186:Ddx5'

102168

Institutional Source

Beutler Lab

Gene Symbol

Ddx5

Ensembl Gene

ENSMUSG00000020719

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 5

Synonyms

Hlr1, p68, 2600009A06Rik

MMRRC Submission

039258-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1186 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106780355-106789185 bp(-) (GRCm38)

Type of Mutation

splice site (1517 bp from exon)

DNA Base Change (assembly)

T to C at 106783979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116859 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021060] [ENSMUST00000021062] [ENSMUST00000123339] [ENSMUST00000126201] [ENSMUST00000127061] [ENSMUST00000127481] [ENSMUST00000129585] [ENSMUST00000133426] [ENSMUST00000134029] [ENSMUST00000155107]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021060

SMART Domains

Protein: ENSMUSP00000021060
Gene: ENSMUSG00000020718

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
SCOP:d1g5ha2	41	330	4e-36	SMART
Pfam:HGTP_anticodon	354	452	3e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000021062
AA Change: D399G

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

SMART Domains

Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719
AA Change: D399G

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

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 null
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: ENSMUST00000126201

SMART Domains

Protein: ENSMUSP00000116583
Gene: ENSMUSG00000020718

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDB:1G5I\|D	17	134	2e-70	PDB
SCOP:d1g5ha2	41	130	8e-6	SMART

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: 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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130172

Predicted Effect

probably damaging
Transcript: ENSMUST00000133426
AA Change: D399G

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

SMART Domains

Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719
AA Change: D399G

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

probably benign
Transcript: ENSMUST00000134029

SMART Domains

Protein: ENSMUSP00000122755
Gene: ENSMUSG00000020718

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDB:1G5I\|D	17	122	3e-69	PDB
SCOP:d1g5ha2	41	120	3e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175532

Predicted Effect

probably benign
Transcript: ENSMUST00000155107

SMART Domains

Protein: ENSMUSP00000118975
Gene: ENSMUSG00000020718

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
PDB:1G5I\|D	17	122	3e-69	PDB
SCOP:d1g5ha2	41	120	3e-6	SMART

Meta Mutation Damage Score

0.9746

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 95.7%
20x: 90.1%

Validation Efficiency

97% (69/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	G	A	10: 21,621,652	R64Q	probably benign	Het
4932438A13Rik	T	C	3: 36,996,312		probably benign	Het
9530068E07Rik	G	A	11: 52,403,078	V49I	probably benign	Het
A2m	T	C	6: 121,661,534	S902P	probably benign	Het
Aatf	A	T	11: 84,470,549		probably benign	Het
Adamtsl1	A	G	4: 86,388,509	T1395A	probably benign	Het
Alpk2	T	C	18: 65,294,341		probably null	Het
Ank3	G	T	10: 69,867,460	A308S	probably damaging	Het
Arap1	A	G	7: 101,404,269		probably benign	Het
C4b	T	C	17: 34,736,309	D769G	possibly damaging	Het
Cep350	A	G	1: 155,875,376	S2017P	probably damaging	Het
Cfap54	T	A	10: 92,875,994	I2704F	unknown	Het
Crip2	G	A	12: 113,144,959		probably benign	Het
Cyp4f14	T	C	17: 32,916,786	I34V	probably benign	Het
Dcstamp	A	G	15: 39,754,629		probably null	Het
Dnah2	A	T	11: 69,515,700	L572Q	probably damaging	Het
Espl1	G	A	15: 102,304,039	A527T	probably benign	Het
Fam83d	A	G	2: 158,785,174	D261G	probably damaging	Het
Fbxo34	T	C	14: 47,530,586	F468L	probably damaging	Het
Gabarapl1	A	T	6: 129,533,405		probably benign	Het
Galnt17	G	T	5: 131,111,742	T179K	probably damaging	Het
Gm6768	A	C	12: 119,261,471		noncoding transcript	Het
Gm6899	C	T	11: 26,593,685		probably benign	Het
Helz2	T	A	2: 181,231,128	R2433W	probably damaging	Het
Hivep3	T	C	4: 119,814,723		probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ica1	A	G	6: 8,672,326	L225P	probably damaging	Het
Inpp5f	T	C	7: 128,694,583	I195T	probably benign	Het
Isyna1	C	A	8: 70,595,201	N115K	probably benign	Het
Ly6g6e	T	C	17: 35,078,008	F75S	probably benign	Het
Ly96	A	G	1: 16,700,894	D101G	possibly damaging	Het
Mapk9	A	G	11: 49,878,269	T243A	probably damaging	Het
Mcc	A	G	18: 44,759,403	V48A	probably benign	Het
Mcpt2	C	T	14: 56,043,945		probably benign	Het
Med24	T	C	11: 98,717,757		probably benign	Het
Mtbp	G	A	15: 55,564,671	G162S	probably null	Het
Mtfr2	G	A	10: 20,352,852	C48Y	probably benign	Het
Naip2	C	T	13: 100,161,981	A516T	possibly damaging	Het
Naip2	AGGG	AGG	13: 100,162,037		probably null	Het
Nup107	A	C	10: 117,777,146	Y292*	probably null	Het
Nwd2	C	T	5: 63,650,024		probably benign	Het
Nxpe4	A	C	9: 48,393,392	N260H	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1084	A	T	2: 86,639,463	L82M	probably damaging	Het
Olfr5	T	C	7: 6,480,542	I205V	probably benign	Het
Olfr901	T	C	9: 38,431,101	V273A	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,524,157	S142P	probably damaging	Het
P2rx7	T	C	5: 122,670,451	Y299H	probably damaging	Het
Per3	T	A	4: 151,026,138	E401V	probably damaging	Het
Rbm34	C	A	8: 126,965,447	E182*	probably null	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Senp2	T	C	16: 22,011,504	S38P	probably damaging	Het
Slc36a2	A	T	11: 55,164,231		probably null	Het
Spred1	A	T	2: 117,177,697	R361S	possibly damaging	Het
Spry2	A	G	14: 105,892,907	C282R	probably damaging	Het
Srp54b	T	C	12: 55,255,528		probably benign	Het
Taar8c	G	C	10: 24,101,565	Y116*	probably null	Het
Tchh	C	G	3: 93,448,046	R1598G	unknown	Het
Tex15	A	G	8: 33,571,633	M364V	probably benign	Het
Ttbk1	T	C	17: 46,467,131	R662G	probably damaging	Het
Ttc5	G	A	14: 50,767,226	Q374*	probably null	Het
Usp46	C	T	5: 74,002,122	A312T	probably benign	Het
Vmn1r176	A	T	7: 23,835,626	L34Q	probably damaging	Het
Vmn1r178	A	T	7: 23,893,892	R122*	probably null	Het
Vmn2r6	T	A	3: 64,565,067	M78L	probably benign	Het
Zfp407	A	T	18: 84,209,448	I2012N	probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	probably benign	Het
Zfyve26	G	A	12: 79,263,949	L161F	probably damaging	Het

Other mutations in Ddx5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02110:Ddx5	APN	11	106785009	missense	probably damaging	0.99
IGL02975:Ddx5	APN	11	106781885	missense	probably benign	0.00
IGL03037:Ddx5	APN	11	106782104	missense	possibly damaging	0.82
IGL03046:Ddx5	UTSW	11	106785045	missense	probably damaging	1.00
R0544:Ddx5	UTSW	11	106782462	unclassified	probably benign
R1464:Ddx5	UTSW	11	106784885	missense	probably benign	0.00
R1464:Ddx5	UTSW	11	106784885	missense	probably benign	0.00
R1839:Ddx5	UTSW	11	106784897	missense	probably benign	0.02
R3781:Ddx5	UTSW	11	106784520	missense	probably benign	0.00
R3782:Ddx5	UTSW	11	106784520	missense	probably benign	0.00
R4968:Ddx5	UTSW	11	106784127	missense	probably damaging	1.00
R4973:Ddx5	UTSW	11	106785007	missense	possibly damaging	0.94
R4995:Ddx5	UTSW	11	106785236	missense	probably damaging	1.00
R5839:Ddx5	UTSW	11	106782206	missense	probably damaging	0.97
R6263:Ddx5	UTSW	11	106788313	missense	possibly damaging	0.83
R6314:Ddx5	UTSW	11	106788521	unclassified	probably benign
R6341:Ddx5	UTSW	11	106785542	splice site	probably null
R6707:Ddx5	UTSW	11	106782232	missense	probably benign	0.00
R7424:Ddx5	UTSW	11	106782180	missense	probably benign	0.12
R7910:Ddx5	UTSW	11	106784435	missense	probably damaging	1.00
R8145:Ddx5	UTSW	11	106782085	missense	probably benign	0.03
R8849:Ddx5	UTSW	11	106785149	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGGCAATCATGCAAAGCATGGG -3'
(R):5'- GGAATCATGCGCTGTGATATAGGGG -3'

Sequencing Primer
(F):5'- CAGTGAACTGTGAGGTAACTTCC -3'
(R):5'- CCAGTGACTTGTAGTAGGCTC -3'

Posted On

2014-01-15