Mutagenetix > Incidental Mutation

Incidental Mutation 'R3803:Ddx50'

274432

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

040878-MU

Accession Numbers

Essential gene?

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

Stock #

R3803 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62615895-62651218 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62639944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 333 (V333F)

Ref Sequence

ENSEMBL: ENSMUSP00000020270 (fasta)

Gene Model

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

AlphaFold

Q99MJ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000020270
AA Change: V333F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: V333F

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: ENSMUST00000218372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219076

Meta Mutation Damage Score

0.2869

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833423E24Rik	A	T	2: 85,508,338		probably null	Het
A2ml1	T	C	6: 128,545,070	N1263S	probably benign	Het
Alpk1	A	C	3: 127,679,837	V839G	possibly damaging	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Aox2	T	A	1: 58,289,899		probably null	Het
Aqp12	C	T	1: 93,006,366		probably benign	Het
Arhgap24	T	C	5: 102,892,442	V508A	probably damaging	Het
Arhgap9	T	A	10: 127,329,517	D598E	possibly damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Clstn1	A	G	4: 149,635,339	H437R	probably damaging	Het
Col1a1	A	G	11: 94,938,069	E79G	unknown	Het
Cspp1	C	A	1: 10,126,373	D157E	probably damaging	Het
Cyp4f16	T	C	17: 32,544,884	S217P	possibly damaging	Het
Dnaic2	A	G	11: 114,738,725	S193G	probably benign	Het
Dync2h1	A	T	9: 6,935,293	H4236Q	probably benign	Het
Emc1	T	C	4: 139,367,163	Y676H	possibly damaging	Het
Erich6	T	A	3: 58,621,332	Y499F	probably damaging	Het
Fa2h	A	G	8: 111,355,398		probably null	Het
Gli1	T	A	10: 127,338,065		probably benign	Het
Gm14403	A	G	2: 177,508,776	S172G	probably benign	Het
Grhl1	C	T	12: 24,584,919	T330M	probably damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Gstm3	G	A	3: 107,964,235	T210I	probably benign	Het
H2-Ke6	A	T	17: 34,026,467	V231E	probably damaging	Het
Helz2	A	G	2: 181,239,996	F335L	probably damaging	Het
Hr	G	A	14: 70,557,893	A322T	probably benign	Het
Iapp	A	G	6: 142,303,425	N68S	probably benign	Het
Kctd4	A	T	14: 75,963,286	L232F	probably benign	Het
Kdm5b	A	G	1: 134,615,941	I783V	probably benign	Het
Larp4b	T	A	13: 9,158,554	N414K	probably benign	Het
Ldb2	T	C	5: 44,473,394	E337G	probably benign	Het
Lgr4	A	G	2: 110,008,197	K498E	probably benign	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Luc7l3	A	T	11: 94,293,166		probably benign	Het
Ndrg2	C	A	14: 51,910,675		probably null	Het
Ndufaf3	C	A	9: 108,566,893	R12L	probably benign	Het
Nol4	A	T	18: 22,694,955	L634I	probably damaging	Het
Npr3	C	T	15: 11,895,790	A257T	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1284	A	T	2: 111,379,293	M98L	possibly damaging	Het
Olfr576	T	C	7: 102,966,021		probably null	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Pclo	C	T	5: 14,515,402	Q61*	probably null	Het
Phf19	A	G	2: 34,899,658	L350P	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Pkhd1l1	T	C	15: 44,493,135	L332P	probably benign	Het
Prpf4b	T	C	13: 34,883,682		probably benign	Het
Rgl3	A	G	9: 21,976,025	I500T	probably damaging	Het
Rgs7	T	A	1: 175,189,219	I62F	probably benign	Het
Rttn	A	G	18: 88,977,707	N205D	probably damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Scn7a	G	A	2: 66,680,246	Q1271*	probably null	Het
Skor1	A	G	9: 63,145,586	V339A	probably benign	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slc5a6	T	C	5: 31,042,951	E130G	probably damaging	Het
Sorcs2	T	A	5: 36,397,806	K80N	probably benign	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Steap4	G	T	5: 7,976,979	R314L	probably damaging	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Trav7d-4	A	T	14: 52,770,118	K23*	probably null	Het
Ttn	A	G	2: 76,810,731	L13598P	probably damaging	Het
Vmn2r52	A	G	7: 10,173,512	S96P	probably damaging	Het
Wdr25	T	C	12: 108,898,553	V208A	probably damaging	Het
Wdr27	C	T	17: 14,918,109	V360M	probably benign	Het
Zfp54	T	C	17: 21,433,552	C103R	possibly damaging	Het
Zfp618	A	G	4: 63,133,019	E679G	probably damaging	Het
Zfp846	A	G	9: 20,594,439	I532V	probably benign	Het
Zkscan2	A	T	7: 123,495,142		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GGCTTGAAGAGGTACCTCAAAC -3'
(R):5'- AGTCCAAAGCGTACTCTGAATCTTC -3'

Sequencing Primer
(F):5'- GAGGTACCTCAAACTTGAATTTAGC -3'
(R):5'- CAAAGCGTACTCTGAATCTTCTTTTG -3'

Posted On

2015-04-02