Mutagenetix > Incidental Mutation

Incidental Mutation 'R1917:Ddx56'

212622

Institutional Source

Beutler Lab

Gene Symbol

Ddx56

Ensembl Gene

ENSMUSG00000004393

Gene Name

DEAD box helicase 56

Synonyms

D11Ertd619e, NOH61, DEAD (Asp-Glu-Ala-Asp) box polypeptide 56, 2600001H07Rik

MMRRC Submission

039935-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R1917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6208919-6217772 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 6213937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004507] [ENSMUST00000004507] [ENSMUST00000004507] [ENSMUST00000151446]

AlphaFold

Q9D0R4

Predicted Effect

probably null
Transcript: ENSMUST00000004507

SMART Domains

Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393

Domain	Start	End	E-Value	Type
DEXDc	26	234	4.13e-46	SMART
low complexity region	246	256	N/A	INTRINSIC
HELICc	272	380	2.42e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000004507

SMART Domains

Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393

Domain	Start	End	E-Value	Type
DEXDc	26	234	4.13e-46	SMART
low complexity region	246	256	N/A	INTRINSIC
HELICc	272	380	2.42e-20	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000004507

SMART Domains

Protein: ENSMUSP00000004507
Gene: ENSMUSG00000004393

Domain	Start	End	E-Value	Type
DEXDc	26	234	4.13e-46	SMART
low complexity region	246	256	N/A	INTRINSIC
HELICc	272	380	2.42e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139073

Predicted Effect

probably benign
Transcript: ENSMUST00000151446

SMART Domains

Protein: ENSMUSP00000122368
Gene: ENSMUSG00000004393

Domain	Start	End	E-Value	Type
DEXDc	26	216	3.65e-38	SMART
low complexity region	228	236	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155874

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.8%
20x: 93.6%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,982,341 (GRCm39)		probably benign	Het
Adgre5	A	G	8: 84,455,738 (GRCm39)	V190A	probably damaging	Het
Akap6	A	G	12: 53,151,395 (GRCm39)	N1153S	probably benign	Het
Aldh1a7	G	A	19: 20,704,819 (GRCm39)	H20Y	probably benign	Het
B430306N03Rik	A	G	17: 48,631,176 (GRCm39)	E278G	probably benign	Het
Cacna1b	C	A	2: 24,506,891 (GRCm39)	R72L	probably null	Het
Cc2d2a	C	G	5: 43,863,564 (GRCm39)	S675R	probably damaging	Het
Ccdc88b	T	A	19: 6,826,594 (GRCm39)	E1040D	probably damaging	Het
Cmtm7	A	G	9: 114,592,432 (GRCm39)	V55A	probably damaging	Het
Coq4	A	C	2: 29,679,938 (GRCm39)	T77P	probably damaging	Het
Cyp2j11	C	A	4: 96,228,211 (GRCm39)	W136L	probably damaging	Het
Dctn2	T	A	10: 127,110,918 (GRCm39)	Y86*	probably null	Het
Dop1b	T	C	16: 93,513,150 (GRCm39)	S30P	probably damaging	Het
Ep400	T	C	5: 110,851,441 (GRCm39)	K1347R	unknown	Het
Fat3	T	A	9: 15,908,353 (GRCm39)	T2550S	possibly damaging	Het
Fcrla	G	T	1: 170,755,095 (GRCm39)	C5*	probably null	Het
Fem1al	A	G	11: 29,774,039 (GRCm39)	S473P	probably benign	Het
Fermt1	T	A	2: 132,764,762 (GRCm39)	D365V	probably damaging	Het
Fhod3	A	G	18: 25,123,022 (GRCm39)		probably benign	Het
Fhod3	A	G	18: 25,218,658 (GRCm39)	D807G	probably benign	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gart	T	C	16: 91,425,037 (GRCm39)	Y662C	probably damaging	Het
Gda	A	T	19: 21,375,004 (GRCm39)		probably benign	Het
Gk	A	G	X: 84,804,186 (GRCm39)	I85T	probably damaging	Het
Gm3476	A	G	14: 6,118,358 (GRCm38)	L255P	possibly damaging	Het
Gm9966	T	C	7: 95,607,684 (GRCm39)	C2R	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gtf2h4	G	A	17: 35,981,090 (GRCm39)	L246F	possibly damaging	Het
Hao1	A	T	2: 134,364,980 (GRCm39)	S216T	probably benign	Het
Hnrnpr	C	A	4: 136,059,799 (GRCm39)	S301*	probably null	Het
Hsd3b2	A	G	3: 98,619,342 (GRCm39)	I201T	probably benign	Het
Jade2	T	C	11: 51,709,365 (GRCm39)	E548G	possibly damaging	Het
Katnbl1	T	C	2: 112,239,524 (GRCm39)	I241T	probably benign	Het
Keap1	G	T	9: 21,145,102 (GRCm39)	Q299K	probably benign	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Lrba	G	A	3: 86,571,808 (GRCm39)	G275R	probably damaging	Het
Map3k9	C	A	12: 81,827,564 (GRCm39)	E29*	probably null	Het
Mat1a	G	A	14: 40,843,394 (GRCm39)	V307I	probably damaging	Het
Mcm2	A	T	6: 88,868,785 (GRCm39)	M324K	possibly damaging	Het
Metap1d	T	C	2: 71,341,871 (GRCm39)	V155A	probably damaging	Het
Mtbp	A	G	15: 55,428,073 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,307,349 (GRCm39)	T231A	probably benign	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Myo15b	T	A	11: 115,773,080 (GRCm39)	I1837K	possibly damaging	Het
Myo3a	T	A	2: 22,296,733 (GRCm39)	H242Q	probably damaging	Het
Nxn	A	G	11: 76,152,498 (GRCm39)		probably benign	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Pak3	C	A	X: 142,574,298 (GRCm39)	A553E	possibly damaging	Het
Pdia2	T	A	17: 26,417,079 (GRCm39)	T122S	possibly damaging	Het
Pira12	C	T	7: 3,900,637 (GRCm39)	V38M	probably damaging	Het
Plod2	A	G	9: 92,463,310 (GRCm39)	T132A	probably benign	Het
Ptprz1	T	A	6: 23,035,039 (GRCm39)		probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Recql4	A	T	15: 76,588,037 (GRCm39)	Y1142*	probably null	Het
Rnf216	A	G	5: 142,978,561 (GRCm39)	V859A	probably benign	Het
Scnm1	G	T	3: 95,037,584 (GRCm39)	P161T	possibly damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Serpinf1	A	G	11: 75,301,833 (GRCm39)	I274T	possibly damaging	Het
Slc28a1	T	C	7: 80,819,334 (GRCm39)	F641L	probably benign	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Smchd1	A	G	17: 71,714,232 (GRCm39)	I877T	possibly damaging	Het
Spata31	T	C	13: 65,068,679 (GRCm39)	Y276H	possibly damaging	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Sult2a5	T	C	7: 13,404,609 (GRCm39)	F282S	probably damaging	Het
Syk	A	T	13: 52,776,744 (GRCm39)	D248V	probably damaging	Het
Thoc6	C	T	17: 23,888,364 (GRCm39)		probably benign	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tll2	T	A	19: 41,116,936 (GRCm39)	D293V	possibly damaging	Het
Umodl1	G	A	17: 31,203,017 (GRCm39)	V457M	probably damaging	Het
Usp19	T	A	9: 108,376,524 (GRCm39)	C689*	probably null	Het
Usp24	T	G	4: 106,267,483 (GRCm39)	V1955G	probably damaging	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r69	C	T	7: 85,060,891 (GRCm39)	C231Y	probably damaging	Het
Wdr73	C	T	7: 80,543,081 (GRCm39)	D176N	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zfhx3	T	C	8: 109,682,880 (GRCm39)	S3440P	unknown	Het
Zfp52	T	G	17: 21,780,426 (GRCm39)	N91K	probably benign	Het
Zfp930	C	A	8: 69,681,357 (GRCm39)	Q350K	probably benign	Het
Zfp949	T	C	9: 88,452,115 (GRCm39)	S562P	probably damaging	Het

Other mutations in Ddx56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Ddx56	APN	11	6,214,671 (GRCm39)	splice site	probably null
IGL01764:Ddx56	APN	11	6,215,692 (GRCm39)	missense	probably null	0.05
IGL02858:Ddx56	APN	11	6,217,667 (GRCm39)	missense	probably damaging	0.99
IGL03075:Ddx56	APN	11	6,211,632 (GRCm39)	missense	probably benign	0.00
R0972:Ddx56	UTSW	11	6,217,718 (GRCm39)	start codon destroyed	probably null	0.99
R1652:Ddx56	UTSW	11	6,217,679 (GRCm39)	missense	probably damaging	1.00
R1744:Ddx56	UTSW	11	6,216,396 (GRCm39)	missense	probably damaging	1.00
R1793:Ddx56	UTSW	11	6,216,934 (GRCm39)	missense	probably damaging	0.99
R1869:Ddx56	UTSW	11	6,213,993 (GRCm39)	missense	possibly damaging	0.88
R2415:Ddx56	UTSW	11	6,211,727 (GRCm39)	unclassified	probably benign
R3839:Ddx56	UTSW	11	6,217,712 (GRCm39)	missense	probably benign	0.23
R4445:Ddx56	UTSW	11	6,215,770 (GRCm39)	splice site	probably null
R5041:Ddx56	UTSW	11	6,214,178 (GRCm39)	missense	probably damaging	1.00
R6925:Ddx56	UTSW	11	6,213,980 (GRCm39)	missense	probably damaging	1.00
R7412:Ddx56	UTSW	11	6,211,720 (GRCm39)	missense	probably damaging	0.99
R8401:Ddx56	UTSW	11	6,214,199 (GRCm39)	missense	probably damaging	1.00
R9088:Ddx56	UTSW	11	6,209,612 (GRCm39)	missense	probably benign	0.00
R9382:Ddx56	UTSW	11	6,215,516 (GRCm39)	missense	probably damaging	1.00
Z1177:Ddx56	UTSW	11	6,217,445 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCCTCTCATTTGTCTTGGATTTAGAA -3'
(R):5'- TCGAGCTGGCAGGTAGGA -3'

Sequencing Primer
(F):5'- CAGAGGTTAAGACTGCTCTTCCAG -3'
(R):5'- GCTGGCAGGTAGGAGGATG -3'

Posted On

2014-07-14