Mutagenetix > Incidental Mutation

Incidental Mutation 'R6263:Ddx5'

506843

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

MMRRC Submission

044437-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106671181-106680011 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106679139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2 (S2P)

Ref Sequence

ENSEMBL: ENSMUSP00000138184 (fasta)

Gene Model

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

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

unknown
Transcript: ENSMUST00000021062
AA Change: S2P

SMART Domains

Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719
AA Change: S2P

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

possibly damaging
Transcript: ENSMUST00000123339
AA Change: S2P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121733
Gene: ENSMUSG00000020719
AA Change: S2P

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

possibly damaging
Transcript: ENSMUST00000127481
AA Change: S2P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138184
Gene: ENSMUSG00000020719
AA Change: S2P

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

possibly damaging
Transcript: ENSMUST00000129585
AA Change: S2P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116859
Gene: ENSMUSG00000020719
AA Change: S2P

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

unknown
Transcript: ENSMUST00000133426
AA Change: S2P

SMART Domains

Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719
AA Change: S2P

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: ENSMUST00000130019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130172

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,995,641 (GRCm39)	I5642V	probably benign	Het
Atp5f1a	A	G	18: 77,866,930 (GRCm39)		probably null	Het
Bltp1	T	A	3: 36,985,260 (GRCm39)	N863K	probably benign	Het
Bsn	A	T	9: 107,990,453 (GRCm39)	F1766L	probably damaging	Het
Ccdc141	T	C	2: 76,938,807 (GRCm39)	Q266R	probably damaging	Het
Cdh10	T	A	15: 18,964,154 (GRCm39)	D105E	possibly damaging	Het
Clca3a1	T	A	3: 144,455,539 (GRCm39)	D418V	probably damaging	Het
Cnnm2	C	A	19: 46,845,344 (GRCm39)	T612K	probably benign	Het
Col3a1	T	C	1: 45,360,735 (GRCm39)	V55A	unknown	Het
Cpd	A	C	11: 76,737,097 (GRCm39)	D232E	probably benign	Het
Csde1	A	G	3: 102,947,333 (GRCm39)	H95R	probably benign	Het
Ctcfl	T	A	2: 172,937,130 (GRCm39)	H596L	probably benign	Het
Cwc22	T	C	2: 77,726,515 (GRCm39)	R855G	possibly damaging	Het
Cwc25	A	G	11: 97,644,053 (GRCm39)	Y227H	probably damaging	Het
Cyp2c38	G	A	19: 39,380,659 (GRCm39)	P409S	probably damaging	Het
Dnah2	C	A	11: 69,348,238 (GRCm39)	G2570W	probably damaging	Het
Dnajc10	T	A	2: 80,174,292 (GRCm39)	V528E	probably damaging	Het
Efcab3	G	A	11: 104,810,312 (GRCm39)	D3150N	unknown	Het
Fmo1	A	G	1: 162,677,629 (GRCm39)		probably null	Het
Gpatch1	C	A	7: 35,002,848 (GRCm39)	D221Y	probably damaging	Het
Ino80	T	C	2: 119,213,895 (GRCm39)	Y1225C	probably damaging	Het
Itga7	T	A	10: 128,779,955 (GRCm39)	D501E	probably benign	Het
Lgr4	T	C	2: 109,842,243 (GRCm39)	S743P	possibly damaging	Het
Lilra5	A	T	7: 4,241,360 (GRCm39)	Y99F	probably damaging	Het
Lmna	A	G	3: 88,410,265 (GRCm39)	V49A	probably damaging	Het
Lrrc72	G	A	12: 36,258,603 (GRCm39)	R267*	probably null	Het
Mapkbp1	T	C	2: 119,853,772 (GRCm39)	S1199P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	A	T	11: 68,701,058 (GRCm39)	N1756Y	probably damaging	Het
Nfe2	A	G	15: 103,159,378 (GRCm39)	I31T	probably damaging	Het
Nfe2l1	A	T	11: 96,708,570 (GRCm39)	F732I	probably benign	Het
Or4a39	C	G	2: 89,237,074 (GRCm39)	M116I	possibly damaging	Het
Or4c12b	T	A	2: 89,647,104 (GRCm39)	C145S	probably damaging	Het
Or52e19b	C	A	7: 103,032,403 (GRCm39)	V269F	possibly damaging	Het
Pax6	T	C	2: 105,523,199 (GRCm39)		probably null	Het
Phb1	A	G	11: 95,568,941 (GRCm39)	E192G	probably damaging	Het
Plekhn1	A	T	4: 156,309,650 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,046,189 (GRCm39)	V942E	probably damaging	Het
Potegl	T	A	2: 23,156,745 (GRCm39)		probably benign	Het
Rsrc2	G	A	5: 123,877,751 (GRCm39)		probably benign	Het
Septin8	G	A	11: 53,439,210 (GRCm39)	C460Y	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,130,508 (GRCm39)	I59T	probably benign	Het
Slc35d1	A	T	4: 103,065,365 (GRCm39)	I172N	possibly damaging	Het
Smg5	A	T	3: 88,249,208 (GRCm39)	N40Y	possibly damaging	Het
Smurf1	A	G	5: 144,818,541 (GRCm39)	V633A	probably damaging	Het
Snx9	T	C	17: 5,937,324 (GRCm39)	V22A	probably damaging	Het
Sox6	A	T	7: 115,076,295 (GRCm39)	M741K	probably damaging	Het
Spata31d1d	T	C	13: 59,873,797 (GRCm39)	Q1246R	probably benign	Het
Sval1	A	G	6: 41,928,660 (GRCm39)	E24G	probably damaging	Het
Tas2r124	A	G	6: 132,731,867 (GRCm39)	I59V	probably benign	Het
Tmem151b	T	A	17: 45,857,992 (GRCm39)	T85S	probably benign	Het
Tpr	T	A	1: 150,317,996 (GRCm39)		probably null	Het
Trpm6	A	C	19: 18,831,472 (GRCm39)	T1446P	possibly damaging	Het
Tsc22d4	A	T	5: 137,766,441 (GRCm39)	K502N	possibly damaging	Het
Tssk3	C	T	4: 129,383,051 (GRCm39)	S207N	probably benign	Het
Ttbk1	G	T	17: 46,778,188 (GRCm39)	P618Q	probably damaging	Het
Ttll6	A	T	11: 96,047,371 (GRCm39)	M657L	probably benign	Het
Ubash3a	T	A	17: 31,434,069 (GRCm39)	I138N	probably benign	Het
Ush2a	A	G	1: 188,090,839 (GRCm39)	Y490C	probably damaging	Het
Vmn1r82	G	T	7: 12,039,461 (GRCm39)	V127F	probably damaging	Het
Vmn2r32	A	T	7: 7,479,691 (GRCm39)	S161T	possibly damaging	Het
Wdr49	T	C	3: 75,388,824 (GRCm39)	I58M	possibly damaging	Het
Wiz	A	T	17: 32,579,417 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,619 (GRCm39)	Y324*	probably null	Het
Zfp747	A	C	7: 126,975,138 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,905,702 (GRCm39)	Y33C	probably damaging	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
R3781:Ddx5	UTSW	11	106,675,346 (GRCm39)	missense	probably benign	0.00
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
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'- ACCGGACGTGTGACAAAAGC -3'
(R):5'- GGCGGTCCAGACTATAAAAGC -3'

Sequencing Primer
(F):5'- GTGTGACAAAAGCCAGGCCTC -3'
(R):5'- GTCCAGACTATAAAAGCGGCTGC -3'

Posted On

2018-03-15