Mutagenetix > Incidental Mutation

Incidental Mutation 'R8257:Ddx50'

656474

Institutional Source

Beutler Lab

Gene Symbol

Ddx50

Ensembl Gene

ENSMUSG00000020076

Gene Name

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

Synonyms

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

MMRRC Submission

067683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R8257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62615895-62651218 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 62616520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020270 (fasta)

Gene Model

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

AlphaFold

Q99MJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000020270

SMART Domains

Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	A	G	6: 48,932,497	T559A	probably benign	Het
4930407I10Rik	A	G	15: 82,065,952	K1350R	probably benign	Het
4933407L21Rik	T	A	1: 85,931,339	C70*	probably null	Het
Akr1c6	G	A	13: 4,438,526	V97I	probably benign	Het
Alg9	A	T	9: 50,779,087	I130F	possibly damaging	Het
Ankle2	G	T	5: 110,253,915		probably null	Het
Ankrd34a	A	T	3: 96,597,729	H83L	possibly damaging	Het
Ate1	T	C	7: 130,467,307	Y367C	probably damaging	Het
Atg9b	C	T	5: 24,386,305		probably benign	Het
Atp2c1	A	G	9: 105,431,557	S626P	probably benign	Het
Ccdc171	A	G	4: 83,696,369	N1069S	probably damaging	Het
Cdh20	A	G	1: 104,994,237	D753G	probably benign	Het
Cdk11b	A	G	4: 155,647,941	E517G	unknown	Het
Chst5	A	T	8: 111,890,460	V176E	probably damaging	Het
Dspp	A	G	5: 104,177,001	D410G	probably benign	Het
Dync1h1	T	A	12: 110,636,474	V2183E	probably damaging	Het
Emilin2	A	G	17: 71,274,000	V577A	probably benign	Het
Entpd2	T	A	2: 25,398,121	L119Q	probably damaging	Het
Foxa1	A	T	12: 57,543,146	M96K	probably benign	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
H2-Aa	T	C	17: 34,283,237	T237A	probably damaging	Het
Itih4	G	A	14: 30,887,868	V52I	possibly damaging	Het
Kntc1	T	C	5: 123,758,523		probably null	Het
Lgi4	A	T	7: 31,067,341		probably null	Het
Map4k2	G	A	19: 6,346,000	R455H	probably benign	Het
Masp2	A	G	4: 148,603,040	T95A	possibly damaging	Het
Mtmr12	T	C	15: 12,259,598	I351T	possibly damaging	Het
Ncdn	A	G	4: 126,749,883		probably null	Het
Nckipsd	A	G	9: 108,814,928	E516G	probably benign	Het
Nlrp12	A	G	7: 3,249,332	W70R	probably damaging	Het
Nmral1	T	A	16: 4,716,403	D58V	probably damaging	Het
Nr2c1	A	G	10: 94,192,907	Y522C	probably damaging	Het
Olfr1369-ps1	A	G	13: 21,116,373	N227S	probably benign	Het
Olfr1532-ps1	A	G	7: 106,914,719	I174V	probably benign	Het
Olfr297	A	G	7: 86,527,470	T238A	possibly damaging	Het
Olfr382	A	G	11: 73,516,377	M274T	probably benign	Het
Pcdhga6	T	A	18: 37,708,815	N529K	probably benign	Het
Pkmyt1	C	T	17: 23,734,174	R235W	probably benign	Het
Prss43	T	C	9: 110,830,812	S315P	possibly damaging	Het
Psmd1	T	A	1: 86,078,623	V237E	probably damaging	Het
Ptprf	A	G	4: 118,226,279	Y844H	probably damaging	Het
Ryr1	C	T	7: 29,064,639	V3089I	possibly damaging	Het
Slc1a7	A	G	4: 108,008,197	D294G	possibly damaging	Het
Slc5a10	T	A	11: 61,715,047	T148S	probably damaging	Het
Spata25	T	C	2: 164,827,770	D107G	possibly damaging	Het
Stambpl1	A	G	19: 34,231,501	E132G	probably damaging	Het
Tgfb1	A	G	7: 25,696,948	H222R	probably damaging	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Trmt1l	T	A	1: 151,428,878	M1K	probably null	Het
Vmn2r86	A	T	10: 130,452,410	H407Q	possibly damaging	Het
Wdr36	T	A	18: 32,841,286		probably benign	Het
Zfp35	T	A	18: 24,004,231	I544N	possibly damaging	Het

Other mutations in Ddx50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Ddx50	APN	10	62647132	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ACTCTGTCTACCTGATCGGC -3'
(R):5'- TGAGAATCTTGGAATGGATCTGAGG -3'

Sequencing Primer
(F):5'- TGATCGGCCACCAGATCGAC -3'
(R):5'- CTTAGCCTGATGACTGAGAATCG -3'

Posted On

2020-11-25