Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01061:Ddx56'

52188

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx56

Ensembl Gene

ENSMUSG00000004393

Gene Name

DEAD box helicase 56

Synonyms

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

6208919-6217772 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 6214671 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

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,619,686 (GRCm39)	C186*	probably null	Het
Ankmy1	A	T	1: 92,798,696 (GRCm39)		probably benign	Het
B3gnt2	T	A	11: 22,786,042 (GRCm39)	E382V	probably damaging	Het
Carmil3	T	G	14: 55,736,087 (GRCm39)	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,497,693 (GRCm39)		probably benign	Het
Chek1	G	A	9: 36,625,815 (GRCm39)	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,320,680 (GRCm39)	I92L	probably benign	Het
Dicer1	A	T	12: 104,672,586 (GRCm39)	M887K	probably null	Het
Dnajc18	A	G	18: 35,813,995 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,596,653 (GRCm39)	V401A	probably damaging	Het
Dock4	A	C	12: 40,752,968 (GRCm39)	N434T	probably benign	Het
Dync2i1	C	A	12: 116,193,324 (GRCm39)	A543S	probably benign	Het
Ehbp1l1	A	T	19: 5,767,916 (GRCm39)	M1129K	probably benign	Het
Fam83a	A	T	15: 57,849,771 (GRCm39)	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 30,973,054 (GRCm39)	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,325,698 (GRCm39)	F414L	possibly damaging	Het
Kndc1	A	T	7: 139,502,610 (GRCm39)	E965D	probably benign	Het
Lrrc66	T	C	5: 73,772,842 (GRCm39)	K209E	probably benign	Het
Mcm3	A	T	1: 20,884,720 (GRCm39)	I261N	possibly damaging	Het
Mier3	T	A	13: 111,850,970 (GRCm39)		probably benign	Het
Muc6	T	C	7: 141,234,720 (GRCm39)	E669G	probably damaging	Het
Myh1	T	A	11: 67,108,688 (GRCm39)	M1368K	probably benign	Het
Nav1	A	G	1: 135,378,368 (GRCm39)	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,210,998 (GRCm39)	L363F	probably damaging	Het
Or14j2	A	G	17: 37,885,795 (GRCm39)	I173T	possibly damaging	Het
Or52b1	A	G	7: 104,978,589 (GRCm39)	I270T	possibly damaging	Het
Or9i1	T	C	19: 13,840,069 (GRCm39)	V304A	possibly damaging	Het
Pkd1l3	A	G	8: 110,365,338 (GRCm39)	H1153R	probably damaging	Het
Poglut3	A	G	9: 53,299,887 (GRCm39)		probably benign	Het
Ppp6r2	A	T	15: 89,170,218 (GRCm39)		probably benign	Het
Prelid3b	T	C	2: 174,307,614 (GRCm39)		probably null	Het
Prrt3	T	C	6: 113,474,731 (GRCm39)	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,530,003 (GRCm39)	D60E	probably damaging	Het
Rab32	A	G	10: 10,433,618 (GRCm39)	L72P	probably damaging	Het
Samm50	A	G	15: 84,086,455 (GRCm39)	T225A	probably benign	Het
Snx27	T	A	3: 94,436,287 (GRCm39)		probably benign	Het
Taf7	G	A	18: 37,776,486 (GRCm39)	T27M	probably damaging	Het
Tgm5	A	T	2: 120,901,977 (GRCm39)	C231S	probably benign	Het
Tll1	A	G	8: 64,491,488 (GRCm39)		probably null	Het
Tmem150a	A	G	6: 72,334,101 (GRCm39)	D61G	probably damaging	Het
Ttll8	G	A	15: 88,801,453 (GRCm39)	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,813,569 (GRCm39)	D1293E	probably benign	Het
Utp20	T	C	10: 88,606,566 (GRCm39)	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,491,183 (GRCm39)	W355R	probably damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfhx2	T	A	14: 55,311,339 (GRCm39)	N452Y	possibly damaging	Het
Zfp180	T	G	7: 23,804,170 (GRCm39)	D196E	possibly damaging	Het

Other mutations in Ddx56

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1917:Ddx56	UTSW	11	6,213,937 (GRCm39)	critical splice donor site	probably null
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

Posted On

2013-06-21