Mutagenetix > Incidental Mutation

Incidental Mutation 'R6341:Ddx5'

514407

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

044495-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6341 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106671181-106680011 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 106676368 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116859 (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

probably null
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

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: 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: ENSMUST00000130019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130172

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

noncoding transcript
Transcript: ENSMUST00000175392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151741

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,924,364 (GRCm39)	D658G	possibly damaging	Het
Amz2	A	G	11: 109,319,653 (GRCm39)	H13R	probably benign	Het
Ankrd27	G	T	7: 35,326,828 (GRCm39)		probably null	Het
Atp8a1	T	C	5: 67,840,270 (GRCm39)	T704A	possibly damaging	Het
Cabin1	A	T	10: 75,494,573 (GRCm39)	M1602K	probably damaging	Het
Ccdc74a	T	C	16: 17,465,978 (GRCm39)	S105P	probably damaging	Het
Cdh26	T	A	2: 178,113,366 (GRCm39)		probably null	Het
Cxcl10	T	C	5: 92,496,072 (GRCm39)	I22V	probably benign	Het
Cyp2c68	A	C	19: 39,700,933 (GRCm39)	V295G	possibly damaging	Het
Ddx10	A	T	9: 53,115,551 (GRCm39)	D594E	probably benign	Het
Duox1	T	C	2: 122,168,202 (GRCm39)	I1109T	probably damaging	Het
Dusp15	T	C	2: 152,788,204 (GRCm39)		probably null	Het
Ecel1	A	G	1: 87,078,193 (GRCm39)		probably null	Het
Efcab6	T	G	15: 83,820,139 (GRCm39)	Q714P	possibly damaging	Het
Erc1	A	G	6: 119,754,959 (GRCm39)	L464P	possibly damaging	Het
Fam234a	T	A	17: 26,432,667 (GRCm39)	H494L	probably damaging	Het
Gfpt1	T	C	6: 87,065,127 (GRCm39)	V694A	probably damaging	Het
Gli2	T	C	1: 118,763,954 (GRCm39)	D1399G	probably damaging	Het
Gm10110	T	C	14: 90,134,144 (GRCm39)		noncoding transcript	Het
Hdac3	A	G	18: 38,077,217 (GRCm39)	L219P	probably damaging	Het
Hlcs	A	G	16: 94,032,022 (GRCm39)	F52S	probably damaging	Het
Ints7	C	A	1: 191,345,239 (GRCm39)	T643K	probably damaging	Het
Ireb2	A	G	9: 54,816,064 (GRCm39)	I878M	probably damaging	Het
Itga3	A	T	11: 94,946,677 (GRCm39)		probably null	Het
Lrfn5	T	A	12: 61,890,368 (GRCm39)	Y552*	probably null	Het
Mafb	T	C	2: 160,208,371 (GRCm39)	T76A	probably damaging	Het
Man2b1	A	T	8: 85,822,028 (GRCm39)	S748C	probably damaging	Het
Mmp15	G	T	8: 96,092,091 (GRCm39)		probably null	Het
Mmp17	A	T	5: 129,679,019 (GRCm39)	R335W	probably damaging	Het
Muc5ac	A	T	7: 141,355,229 (GRCm39)	D1005V	probably damaging	Het
Myh3	T	C	11: 66,973,822 (GRCm39)	F165S	probably benign	Het
Nacc1	T	C	8: 85,401,420 (GRCm39)	D419G	probably benign	Het
Neb	G	A	2: 52,099,486 (GRCm39)	S4545L	probably damaging	Het
Niban3	C	T	8: 72,052,721 (GRCm39)	P65L	probably damaging	Het
Npas2	T	C	1: 39,339,768 (GRCm39)	I106T	probably damaging	Het
Ogfrl1	T	G	1: 23,408,944 (GRCm39)	K427N	probably benign	Het
Or5b12	T	C	19: 12,896,843 (GRCm39)	T277A	probably benign	Het
Pde4dip	T	A	3: 97,602,227 (GRCm39)	Q2283L	probably benign	Het
Phax	C	T	18: 56,706,173 (GRCm39)	T21M	possibly damaging	Het
Pitpnm1	A	T	19: 4,152,829 (GRCm39)	K79*	probably null	Het
Pkd1	T	A	17: 24,799,201 (GRCm39)	F2807I	probably damaging	Het
Plekha4	C	T	7: 45,190,572 (GRCm39)	R427C	probably damaging	Het
Ptprj	A	T	2: 90,288,693 (GRCm39)	F757L	probably benign	Het
Rad1	A	G	15: 10,492,907 (GRCm39)	D208G	probably damaging	Het
Rangrf	T	A	11: 68,863,538 (GRCm39)	N156I	probably benign	Het
Rasl11b	T	C	5: 74,359,037 (GRCm39)	S181P	probably damaging	Het
Rigi	T	A	4: 40,222,199 (GRCm39)		probably null	Het
Rlf	G	A	4: 121,006,557 (GRCm39)	Q808*	probably null	Het
Rogdi	G	T	16: 4,831,241 (GRCm39)		probably null	Het
Sec24a	A	T	11: 51,608,603 (GRCm39)	V573D	probably damaging	Het
Sorbs2	A	G	8: 46,223,615 (GRCm39)	T200A	probably damaging	Het
Srgap2	C	T	1: 131,219,367 (GRCm39)	R259H	probably benign	Het
Ssc5d	T	A	7: 4,939,664 (GRCm39)	V700E	probably benign	Het
Stt3a	A	T	9: 36,662,592 (GRCm39)	H222Q	probably damaging	Het
Tcaf3	A	T	6: 42,574,193 (GRCm39)	D6E	possibly damaging	Het
Tdrd12	C	T	7: 35,189,473 (GRCm39)	R421H	probably damaging	Het
Top3b	T	C	16: 16,696,935 (GRCm39)	M62T	probably damaging	Het
Trhr	T	G	15: 44,092,694 (GRCm39)	Y310*	probably null	Het
Urb2	G	T	8: 124,757,864 (GRCm39)	E1190D	probably damaging	Het
Usp34	A	G	11: 23,331,353 (GRCm39)	T1085A	probably damaging	Het
Vmn1r179	T	A	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r31	A	T	6: 58,448,995 (GRCm39)	M290K	probably benign	Het
Wdr75	T	C	1: 45,841,291 (GRCm39)		probably null	Het
Wnk1	A	T	6: 119,925,546 (GRCm39)	V1306D	probably damaging	Het
Xkr4	T	C	1: 3,741,001 (GRCm39)	T191A	probably benign	Het
Zc3h15	A	G	2: 83,491,567 (GRCm39)	E265G	probably benign	Het
Zcchc9	A	G	13: 91,948,816 (GRCm39)	F41S	possibly damaging	Het
Zfp251	T	C	15: 76,738,337 (GRCm39)	H247R	probably damaging	Het
Zfp433	A	G	10: 81,555,957 (GRCm39)	E152G	probably damaging	Het
Zfp770	A	T	2: 114,027,240 (GRCm39)	S276R	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
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
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'- TCTCCATCAGTGACAAAGATCC -3'
(R):5'- ACAAGGAGAGACCAACTTGC -3'

Sequencing Primer
(F):5'- GTGACAAAGATCCCCCTTTATGG -3'
(R):5'- AAAAGTTGCCTTCTGGTTTCTCCATG -3'

Posted On

2018-04-27