Mutagenetix > Incidental Mutation

Incidental Mutation 'R0544:Ddx5'

44703

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

038736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106671181-106680011 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 106673288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118975 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000021062

SMART Domains

Protein: ENSMUSP00000021062
Gene: ENSMUSG00000020719

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 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: 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: ENSMUST00000133426

SMART Domains

Protein: ENSMUSP00000138237
Gene: ENSMUSG00000020719

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: 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

noncoding transcript
Transcript: ENSMUST00000130172

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175392

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

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (97/99)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,394,763 (GRCm39)	F130L	probably benign	Het
Aatf	C	T	11: 84,313,831 (GRCm39)	R511Q	probably benign	Het
Acot12	A	T	13: 91,932,775 (GRCm39)	D516V	probably benign	Het
Adgrb2	T	C	4: 129,911,335 (GRCm39)	V1207A	probably damaging	Het
Akap9	A	G	5: 4,119,185 (GRCm39)	D3564G	probably benign	Het
Arl8b	C	T	6: 108,760,189 (GRCm39)		probably benign	Het
Atf6b	T	C	17: 34,867,273 (GRCm39)		probably null	Het
Atrn	G	A	2: 130,828,746 (GRCm39)	G1097D	probably damaging	Het
Btbd6	A	G	12: 112,940,702 (GRCm39)	E61G	probably damaging	Het
Car15	A	G	16: 17,653,680 (GRCm39)		probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Carmil2	C	T	8: 106,417,867 (GRCm39)	A654V	probably damaging	Het
Ccdc88b	A	G	19: 6,834,634 (GRCm39)	L124P	probably damaging	Het
Ccnd1	A	G	7: 144,491,023 (GRCm39)		probably benign	Het
Cenph	A	G	13: 100,909,249 (GRCm39)	S53P	probably damaging	Het
Chrm3	T	A	13: 9,927,615 (GRCm39)	I474F	probably damaging	Het
Cln8	T	A	8: 14,946,769 (GRCm39)	V261E	probably benign	Het
Coa6	A	G	8: 127,149,499 (GRCm39)	D25G	probably benign	Het
Col4a1	T	G	8: 11,276,487 (GRCm39)		probably benign	Het
Cpxm1	T	C	2: 130,235,055 (GRCm39)	H588R	probably damaging	Het
Cul7	T	C	17: 46,974,470 (GRCm39)	L1516P	possibly damaging	Het
Dcdc5	A	G	2: 106,181,909 (GRCm39)		noncoding transcript	Het
Dhx16	C	A	17: 36,192,551 (GRCm39)	P161Q	probably benign	Het
Dpy19l1	A	T	9: 24,396,406 (GRCm39)		probably benign	Het
Fastkd5	A	G	2: 130,457,216 (GRCm39)	V458A	probably damaging	Het
Fhit	A	G	14: 9,870,172 (GRCm38)	V99A	probably damaging	Het
Fndc3a	A	T	14: 72,795,062 (GRCm39)		probably benign	Het
Foxd4	A	T	19: 24,877,182 (GRCm39)	S339R	possibly damaging	Het
Gm10842	T	A	11: 105,037,880 (GRCm39)	D54E	unknown	Het
Gns	T	A	10: 121,212,172 (GRCm39)	Y94*	probably null	Het
Gp2	A	G	7: 119,053,719 (GRCm39)	W81R	probably benign	Het
Hdac5	T	G	11: 102,086,922 (GRCm39)	Q46P	probably damaging	Het
Homer2	A	C	7: 81,299,426 (GRCm39)	V13G	probably damaging	Het
Irs3	A	G	5: 137,642,101 (GRCm39)	S446P	probably benign	Het
Ism2	G	T	12: 87,332,113 (GRCm39)	D141E	probably damaging	Het
Jak1	T	A	4: 101,048,822 (GRCm39)	M19L	probably benign	Het
Kcnd3	C	A	3: 105,566,075 (GRCm39)	R419S	probably damaging	Het
Lamb1	T	C	12: 31,332,694 (GRCm39)	F272S	probably damaging	Het
Ldlrad2	T	G	4: 137,299,579 (GRCm39)	T82P	possibly damaging	Het
Lrp2	T	C	2: 69,322,275 (GRCm39)	K1885E	probably benign	Het
Mbd5	T	C	2: 49,147,221 (GRCm39)	V477A	possibly damaging	Het
Mrps33	A	T	6: 39,782,488 (GRCm39)	M11K	possibly damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myom2	T	A	8: 15,119,796 (GRCm39)	V184E	probably damaging	Het
Ncor1	C	A	11: 62,224,602 (GRCm39)	G1210V	probably damaging	Het
Ncor1	C	T	11: 62,224,603 (GRCm39)	G1210R	probably damaging	Het
Nlrp4a	A	G	7: 26,156,555 (GRCm39)	D760G	probably benign	Het
Noc4l	A	G	5: 110,798,989 (GRCm39)	V231A	possibly damaging	Het
Or2at1	T	C	7: 99,416,867 (GRCm39)	I166T	probably benign	Het
Or4c112	T	C	2: 88,854,170 (GRCm39)	Y59C	probably damaging	Het
Or4f14	A	T	2: 111,742,905 (GRCm39)	Y123*	probably null	Het
Or4n4b	A	T	14: 50,536,139 (GRCm39)	V209E	probably benign	Het
Or52ab7	T	A	7: 102,977,858 (GRCm39)	I55N	probably damaging	Het
Or5b98	A	G	19: 12,931,066 (GRCm39)	T38A	possibly damaging	Het
Or5h25	T	A	16: 58,930,588 (GRCm39)	K128N	probably benign	Het
Or8k23	T	C	2: 86,186,007 (GRCm39)	T240A	probably damaging	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Patj	T	A	4: 98,457,347 (GRCm39)	M1283K	probably damaging	Het
Pkd1	C	T	17: 24,804,657 (GRCm39)	T790I	probably damaging	Het
Plod3	C	A	5: 137,020,465 (GRCm39)	T526K	probably benign	Het
Plxnb2	C	A	15: 89,042,816 (GRCm39)		probably benign	Het
Polr1g	G	T	7: 19,093,066 (GRCm39)	P38Q	probably damaging	Het
Pramel1	T	A	4: 143,124,175 (GRCm39)	D283E	possibly damaging	Het
Prpf40a	T	C	2: 53,031,663 (GRCm39)		probably benign	Het
Psg23	A	T	7: 18,348,607 (GRCm39)	Y67N	probably damaging	Het
Rftn1	T	A	17: 50,301,289 (GRCm39)	Q242L	possibly damaging	Het
Rp1l1	A	T	14: 64,269,515 (GRCm39)	E1700D	probably benign	Het
Scube3	T	C	17: 28,383,127 (GRCm39)	F435S	probably damaging	Het
Sdk2	T	C	11: 113,671,836 (GRCm39)	Y2104C	probably damaging	Het
Septin11	A	G	5: 93,313,227 (GRCm39)	E358G	possibly damaging	Het
Sh3bp1	T	C	15: 78,789,975 (GRCm39)	L246P	probably damaging	Het
Sis	T	C	3: 72,858,975 (GRCm39)	Y352C	probably damaging	Het
Skint1	T	C	4: 111,878,562 (GRCm39)	S165P	probably damaging	Het
Skint10	C	T	4: 112,586,008 (GRCm39)		probably benign	Het
Slc1a2	A	T	2: 102,586,417 (GRCm39)	R340S	probably damaging	Het
Slc26a3	C	A	12: 31,497,739 (GRCm39)	Q48K	probably benign	Het
Slc5a2	A	T	7: 127,869,171 (GRCm39)	Y317F	probably damaging	Het
Sorbs3	T	A	14: 70,431,375 (GRCm39)	T262S	probably benign	Het
Tas2r118	G	T	6: 23,969,400 (GRCm39)	S220R	probably damaging	Het
Terf2ip	C	A	8: 112,741,974 (GRCm39)	Q223K	possibly damaging	Het
Tespa1	A	G	10: 130,196,680 (GRCm39)	Q206R	probably damaging	Het
Tex10	T	C	4: 48,462,766 (GRCm39)		probably null	Het
Tle1	T	A	4: 72,043,227 (GRCm39)	K547N	probably damaging	Het
Tmem131l	T	A	3: 83,805,853 (GRCm39)	Q1530L	probably damaging	Het
Tomm20l	A	G	12: 71,169,851 (GRCm39)	E145G	possibly damaging	Het
Tra2a	C	T	6: 49,227,885 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trim37	T	A	11: 87,036,328 (GRCm39)	Y121*	probably null	Het
Tube1	C	T	10: 39,016,941 (GRCm39)		probably null	Het
Usp6nl	T	A	2: 6,425,820 (GRCm39)	V187D	probably damaging	Het
Vmn1r13	T	C	6: 57,187,248 (GRCm39)	F136L	probably benign	Het
Vmn1r201	A	T	13: 22,659,316 (GRCm39)	I177F	probably benign	Het
Vmn1r203	A	T	13: 22,708,443 (GRCm39)	T75S	possibly damaging	Het
Vmn1r225	C	T	17: 20,722,718 (GRCm39)	S53L	probably benign	Het
Xab2	A	T	8: 3,660,994 (GRCm39)	W707R	probably damaging	Het
Zfp808	T	C	13: 62,317,248 (GRCm39)		probably benign	Het
Zng1	A	G	19: 24,926,575 (GRCm39)	Y159H	possibly 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
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
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'- CCCTGGAACGACCTGTCAAGAAAG -3'
(R):5'- TGCTATTTTGCCACACTGCAACAC -3'

Sequencing Primer
(F):5'- CGACCTGTCAAGAAAGTAAGTG -3'
(R):5'- CTGCAACACCTTACAGATGTG -3'

Posted On

2013-06-11