Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01517:Ddx50'

90426

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx50

Ensembl Gene

ENSMUSG00000020076

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 50

Synonyms

GU2, RH-II/Gubeta, 8430408E17Rik, 4933429B04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.145) question?

Stock #

IGL01517

Quality Score

Status

Chromosome

Chromosomal Location

62615895-62651218 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62647132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 53 (T53A)

Ref Sequence

ENSEMBL: ENSMUSP00000020270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020270]

AlphaFold

Q99MJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000020270
AA Change: T53A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: T53A

Domain	Start	End	E-Value	Type
low complexity region	29	49	N/A	INTRINSIC
low complexity region	58	65	N/A	INTRINSIC
Blast:DEXDc	66	104	3e-8	BLAST
low complexity region	105	122	N/A	INTRINSIC
DEXDc	153	354	1.97e-52	SMART
HELICc	398	480	1.8e-28	SMART
low complexity region	558	564	N/A	INTRINSIC
Pfam:GUCT	568	662	3.7e-31	PFAM
low complexity region	674	728	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218224

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220370

Coding Region Coverage

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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	T	13: 104,390,192		probably benign	Het
Arpc1b	A	G	5: 145,127,869		probably benign	Het
Ccdc54	G	A	16: 50,589,917	L329F	possibly damaging	Het
Cdc42bpg	G	A	19: 6,318,437	R1055H	probably damaging	Het
Cylc1	A	G	X: 111,119,030	T29A	possibly damaging	Het
Dmap1	G	A	4: 117,676,009	R283C	probably damaging	Het
Extl3	A	T	14: 65,076,707	L342H	probably damaging	Het
Gjb3	A	C	4: 127,326,121	I206S	probably damaging	Het
Gphn	T	A	12: 78,376,374	I53K	probably damaging	Het
Gpr22	C	T	12: 31,708,710		probably benign	Het
Inpp5b	T	A	4: 124,782,436	C362S	probably benign	Het
Iqgap3	C	A	3: 88,109,396	Q1062K	probably benign	Het
Kdm2a	A	G	19: 4,362,061		probably benign	Het
Ltbp3	A	G	19: 5,757,732	D1167G	possibly damaging	Het
Mpo	A	G	11: 87,795,821	N65D	possibly damaging	Het
Mrpl2	A	G	17: 46,649,983	R268G	probably damaging	Het
Nfkbia	C	T	12: 55,490,645	A220T	probably damaging	Het
Nlrc3	T	A	16: 3,947,487	I1091F	probably damaging	Het
Notch2	T	A	3: 98,138,655	S1674R	probably benign	Het
Olfr298	T	C	7: 86,489,557		probably benign	Het
Olfr63	T	A	17: 33,269,655	N310K	probably benign	Het
Pde8b	A	G	13: 95,100,887		probably null	Het
Pla2r1	A	G	2: 60,504,253	Y392H	probably damaging	Het
Plekhm1	A	T	11: 103,394,783	N275K	possibly damaging	Het
Prdm16	T	C	4: 154,328,425	H1041R	probably damaging	Het
Rapsn	C	A	2: 91,036,618	N88K	probably damaging	Het
Rasef	T	A	4: 73,769,822	Q31H	probably benign	Het
Rpl28-ps4	T	C	6: 117,213,852		noncoding transcript	Het
Trpc7	T	C	13: 56,861,065	Y263C	probably damaging	Het
Ttn	T	C	2: 76,747,596	T24318A	probably damaging	Het
Vmn1r35	T	C	6: 66,679,450	T79A	probably benign	Het
Vmn2r100	T	A	17: 19,521,963	S200T	probably benign	Het
Wnt9b	A	G	11: 103,731,081	V250A	probably benign	Het
Zyg11a	T	A	4: 108,201,194	K383M	probably null	Het

Other mutations in Ddx50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01955:Ddx50	APN	10	62647183	missense	probably benign
IGL02677:Ddx50	APN	10	62616293	missense	unknown
IGL03169:Ddx50	APN	10	62621387	critical splice donor site	probably null
IGL03372:Ddx50	APN	10	62643330	missense	probably benign	0.11
K7371:Ddx50	UTSW	10	62621510	start codon destroyed	probably null
R0123:Ddx50	UTSW	10	62621377	splice site	probably benign
R0134:Ddx50	UTSW	10	62621377	splice site	probably benign
R0318:Ddx50	UTSW	10	62642837	missense	probably damaging	1.00
R0731:Ddx50	UTSW	10	62616249	missense	unknown
R1244:Ddx50	UTSW	10	62642924	missense	probably damaging	1.00
R1429:Ddx50	UTSW	10	62647068	missense	possibly damaging	0.45
R2005:Ddx50	UTSW	10	62640464	missense	probably benign	0.10
R2924:Ddx50	UTSW	10	62627594	missense	probably damaging	1.00
R3803:Ddx50	UTSW	10	62639944	missense	probably damaging	1.00
R3861:Ddx50	UTSW	10	62642946	missense	possibly damaging	0.91
R4169:Ddx50	UTSW	10	62640770	nonsense	probably null
R4917:Ddx50	UTSW	10	62627671	nonsense	probably null
R4918:Ddx50	UTSW	10	62627671	nonsense	probably null
R4951:Ddx50	UTSW	10	62634120	missense	probably damaging	0.99
R4962:Ddx50	UTSW	10	62642853	missense	probably damaging	1.00
R5102:Ddx50	UTSW	10	62640861	missense	probably damaging	1.00
R5403:Ddx50	UTSW	10	62647030	missense	probably benign
R5648:Ddx50	UTSW	10	62616270	missense	unknown
R5899:Ddx50	UTSW	10	62640817	nonsense	probably null
R6127:Ddx50	UTSW	10	62621563	splice site	probably null
R6244:Ddx50	UTSW	10	62621566	splice site	probably null
R8098:Ddx50	UTSW	10	62625143	critical splice donor site	probably null
R8163:Ddx50	UTSW	10	62639899	missense	possibly damaging	0.93
R8257:Ddx50	UTSW	10	62616520	splice site	probably benign
R8272:Ddx50	UTSW	10	62621477	missense	probably benign	0.05
R8356:Ddx50	UTSW	10	62621508	missense	probably benign	0.04
R8537:Ddx50	UTSW	10	62642849	missense	probably damaging	1.00
R8540:Ddx50	UTSW	10	62640790	missense	possibly damaging	0.94
R8759:Ddx50	UTSW	10	62616242	missense	unknown
R8995:Ddx50	UTSW	10	62634083	missense	probably damaging	1.00
R9001:Ddx50	UTSW	10	62639949	missense	probably benign	0.27
R9691:Ddx50	UTSW	10	62640745	missense	probably benign	0.03
R9799:Ddx50	UTSW	10	62634033	missense	probably damaging	1.00
X0026:Ddx50	UTSW	10	62625191	missense	probably damaging	1.00

Posted On

2013-12-09