Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Ddx50'

67575

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

038912-MU

Accession Numbers

Essential gene?

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

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62615895-62651218 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62616249 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 732 (N732D)

Ref Sequence

ENSEMBL: ENSMUSP00000020270 (fasta)

Gene Model

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

AlphaFold

Q99MJ9

Predicted Effect

unknown
Transcript: ENSMUST00000020270
AA Change: N732D

SMART Domains

Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: N732D

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

unknown
Transcript: ENSMUST00000218304
AA Change: N131D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218372

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Cdh11	T	A	8: 102,668,019	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	Het

Other mutations in Ddx50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Ddx50	APN	10	62,647,132 (GRCm38)	missense	probably benign
IGL01955:Ddx50	APN	10	62,647,183 (GRCm38)	missense	probably benign
IGL02677:Ddx50	APN	10	62,616,293 (GRCm38)	missense	unknown
IGL03169:Ddx50	APN	10	62,621,387 (GRCm38)	critical splice donor site	probably null
IGL03372:Ddx50	APN	10	62,643,330 (GRCm38)	missense	probably benign	0.11
K7371:Ddx50	UTSW	10	62,621,510 (GRCm38)	start codon destroyed	probably null
R0123:Ddx50	UTSW	10	62,621,377 (GRCm38)	splice site	probably benign
R0134:Ddx50	UTSW	10	62,621,377 (GRCm38)	splice site	probably benign
R0318:Ddx50	UTSW	10	62,642,837 (GRCm38)	missense	probably damaging	1.00
R1244:Ddx50	UTSW	10	62,642,924 (GRCm38)	missense	probably damaging	1.00
R1429:Ddx50	UTSW	10	62,647,068 (GRCm38)	missense	possibly damaging	0.45
R2005:Ddx50	UTSW	10	62,640,464 (GRCm38)	missense	probably benign	0.10
R2924:Ddx50	UTSW	10	62,627,594 (GRCm38)	missense	probably damaging	1.00
R3803:Ddx50	UTSW	10	62,639,944 (GRCm38)	missense	probably damaging	1.00
R3861:Ddx50	UTSW	10	62,642,946 (GRCm38)	missense	possibly damaging	0.91
R4169:Ddx50	UTSW	10	62,640,770 (GRCm38)	nonsense	probably null
R4917:Ddx50	UTSW	10	62,627,671 (GRCm38)	nonsense	probably null
R4918:Ddx50	UTSW	10	62,627,671 (GRCm38)	nonsense	probably null
R4951:Ddx50	UTSW	10	62,634,120 (GRCm38)	missense	probably damaging	0.99
R4962:Ddx50	UTSW	10	62,642,853 (GRCm38)	missense	probably damaging	1.00
R5102:Ddx50	UTSW	10	62,640,861 (GRCm38)	missense	probably damaging	1.00
R5403:Ddx50	UTSW	10	62,647,030 (GRCm38)	missense	probably benign
R5648:Ddx50	UTSW	10	62,616,270 (GRCm38)	missense	unknown
R5899:Ddx50	UTSW	10	62,640,817 (GRCm38)	nonsense	probably null
R6127:Ddx50	UTSW	10	62,621,563 (GRCm38)	splice site	probably null
R6244:Ddx50	UTSW	10	62,621,566 (GRCm38)	splice site	probably null
R8098:Ddx50	UTSW	10	62,625,143 (GRCm38)	critical splice donor site	probably null
R8163:Ddx50	UTSW	10	62,639,899 (GRCm38)	missense	possibly damaging	0.93
R8257:Ddx50	UTSW	10	62,616,520 (GRCm38)	splice site	probably benign
R8272:Ddx50	UTSW	10	62,621,477 (GRCm38)	missense	probably benign	0.05
R8356:Ddx50	UTSW	10	62,621,508 (GRCm38)	missense	probably benign	0.04
R8537:Ddx50	UTSW	10	62,642,849 (GRCm38)	missense	probably damaging	1.00
R8540:Ddx50	UTSW	10	62,640,790 (GRCm38)	missense	possibly damaging	0.94
R8759:Ddx50	UTSW	10	62,616,242 (GRCm38)	missense	unknown
R8995:Ddx50	UTSW	10	62,634,083 (GRCm38)	missense	probably damaging	1.00
R9001:Ddx50	UTSW	10	62,639,949 (GRCm38)	missense	probably benign	0.27
R9691:Ddx50	UTSW	10	62,640,745 (GRCm38)	missense	probably benign	0.03
R9799:Ddx50	UTSW	10	62,634,033 (GRCm38)	missense	probably damaging	1.00
X0026:Ddx50	UTSW	10	62,625,191 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCACCAGCTACCAGCCCTTATG -3'
(R):5'- ATCTAATCCCAGACAGAGGAGCGG -3'

Sequencing Primer
(F):5'- GAAAGGGTTTTGTCCTTCATCAC -3'
(R):5'- ATCAGGTAGACAGAGTCGACAG -3'

Posted On

2013-09-03