Mutagenetix > Incidental Mutation

Incidental Mutation 'R4918:Ddx50'

378419

Institutional Source

Beutler Lab

Gene Symbol

Ddx50

Ensembl Gene

ENSMUSG00000020076

Gene Name

DExD box helicase 50

Synonyms

RH-II/Gubeta, GU2, 4933429B04Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 50, 8430408E17Rik

MMRRC Submission

042520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R4918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62451674-62486997 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 62463450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 414 (C414*)

Ref Sequence

ENSEMBL: ENSMUSP00000020270 (fasta)

Gene Model

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

AlphaFold

Q99MJ9

Predicted Effect

probably null
Transcript: ENSMUST00000020270
AA Change: C414*

SMART Domains

Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: C414*

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: ENSMUST00000217970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218372

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (116/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,071,377 (GRCm39)	I1492F	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bnip1	C	T	17: 27,002,525 (GRCm39)		probably benign	Het
Bnip5	T	G	17: 29,127,337 (GRCm39)	Q224P	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cntnap2	T	C	6: 46,506,969 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,276,339 (GRCm39)	I749T	possibly damaging	Het
Defb42	A	G	14: 63,285,790 (GRCm39)	I57V	probably benign	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Dhx40	G	T	11: 86,695,217 (GRCm39)	H98N	possibly damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dpysl5	T	G	5: 30,949,612 (GRCm39)	F461V	probably damaging	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Esyt2	T	C	12: 116,287,760 (GRCm39)	V226A	probably benign	Het
Fan1	A	T	7: 64,023,286 (GRCm39)		probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fsip2	G	A	2: 82,824,114 (GRCm39)	V6616I	possibly damaging	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,091,573 (GRCm39)	N65S	unknown	Het
Golga4	C	A	9: 118,387,213 (GRCm39)	S1445Y	probably damaging	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
Hsf4	A	G	8: 105,999,367 (GRCm39)	E235G	probably benign	Het
Ifi206	T	A	1: 173,309,610 (GRCm39)	T129S	possibly damaging	Het
Jakmip1	G	A	5: 37,248,619 (GRCm39)	R93Q	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kif1a	T	A	1: 93,002,700 (GRCm39)	E233V	probably benign	Het
Krt5	A	T	15: 101,618,742 (GRCm39)	Y340N	probably damaging	Het
Krt90	T	A	15: 101,470,914 (GRCm39)	H116L	possibly damaging	Het
Large2	A	G	2: 92,196,452 (GRCm39)		probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nckap1l	A	G	15: 103,392,040 (GRCm39)	N825S	probably benign	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nsf	G	A	11: 103,801,185 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or1n1b	A	G	2: 36,780,344 (GRCm39)	I172T	probably damaging	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5ak20	C	T	2: 85,183,632 (GRCm39)	V213I	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Or9g10	T	C	2: 85,584,465 (GRCm39)		probably benign	Het
Pcdh20	A	C	14: 88,705,104 (GRCm39)	L732R	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Prpf18	T	C	2: 4,641,981 (GRCm39)	D186G	probably benign	Het
Rab3gap1	T	A	1: 127,816,914 (GRCm39)	W58R	possibly damaging	Het
Rbp3	T	C	14: 33,677,368 (GRCm39)	Y439H	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Sulf1	A	G	1: 12,888,720 (GRCm39)	D335G	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Thsd7a	A	C	6: 12,327,558 (GRCm39)	I1438S	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Trav6d-4	T	C	14: 52,991,240 (GRCm39)	F95S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	C	2: 76,589,598 (GRCm39)	T21219A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r69	T	A	7: 85,055,967 (GRCm39)	M724L	probably benign	Het
Zeb2	A	G	2: 44,886,894 (GRCm39)	I706T	probably damaging	Het
Zfp512	T	C	5: 31,634,209 (GRCm39)	S407P	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het

Other mutations in Ddx50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01517:Ddx50	APN	10	62,482,911 (GRCm39)	missense	probably benign
IGL01955:Ddx50	APN	10	62,482,962 (GRCm39)	missense	probably benign
IGL02677:Ddx50	APN	10	62,452,072 (GRCm39)	missense	unknown
IGL03169:Ddx50	APN	10	62,457,166 (GRCm39)	critical splice donor site	probably null
IGL03372:Ddx50	APN	10	62,479,109 (GRCm39)	missense	probably benign	0.11
K7371:Ddx50	UTSW	10	62,457,289 (GRCm39)	start codon destroyed	probably null
R0123:Ddx50	UTSW	10	62,457,156 (GRCm39)	splice site	probably benign
R0134:Ddx50	UTSW	10	62,457,156 (GRCm39)	splice site	probably benign
R0318:Ddx50	UTSW	10	62,478,616 (GRCm39)	missense	probably damaging	1.00
R0731:Ddx50	UTSW	10	62,452,028 (GRCm39)	missense	unknown
R1244:Ddx50	UTSW	10	62,478,703 (GRCm39)	missense	probably damaging	1.00
R1429:Ddx50	UTSW	10	62,482,847 (GRCm39)	missense	possibly damaging	0.45
R2005:Ddx50	UTSW	10	62,476,243 (GRCm39)	missense	probably benign	0.10
R2924:Ddx50	UTSW	10	62,463,373 (GRCm39)	missense	probably damaging	1.00
R3803:Ddx50	UTSW	10	62,475,723 (GRCm39)	missense	probably damaging	1.00
R3861:Ddx50	UTSW	10	62,478,725 (GRCm39)	missense	possibly damaging	0.91
R4169:Ddx50	UTSW	10	62,476,549 (GRCm39)	nonsense	probably null
R4917:Ddx50	UTSW	10	62,463,450 (GRCm39)	nonsense	probably null
R4951:Ddx50	UTSW	10	62,469,899 (GRCm39)	missense	probably damaging	0.99
R4962:Ddx50	UTSW	10	62,478,632 (GRCm39)	missense	probably damaging	1.00
R5102:Ddx50	UTSW	10	62,476,640 (GRCm39)	missense	probably damaging	1.00
R5403:Ddx50	UTSW	10	62,482,809 (GRCm39)	missense	probably benign
R5648:Ddx50	UTSW	10	62,452,049 (GRCm39)	missense	unknown
R5899:Ddx50	UTSW	10	62,476,596 (GRCm39)	nonsense	probably null
R6127:Ddx50	UTSW	10	62,457,342 (GRCm39)	splice site	probably null
R6244:Ddx50	UTSW	10	62,457,345 (GRCm39)	splice site	probably null
R8098:Ddx50	UTSW	10	62,460,922 (GRCm39)	critical splice donor site	probably null
R8163:Ddx50	UTSW	10	62,475,678 (GRCm39)	missense	possibly damaging	0.93
R8257:Ddx50	UTSW	10	62,452,299 (GRCm39)	splice site	probably benign
R8272:Ddx50	UTSW	10	62,457,256 (GRCm39)	missense	probably benign	0.05
R8356:Ddx50	UTSW	10	62,457,287 (GRCm39)	missense	probably benign	0.04
R8537:Ddx50	UTSW	10	62,478,628 (GRCm39)	missense	probably damaging	1.00
R8540:Ddx50	UTSW	10	62,476,569 (GRCm39)	missense	possibly damaging	0.94
R8759:Ddx50	UTSW	10	62,452,021 (GRCm39)	missense	unknown
R8995:Ddx50	UTSW	10	62,469,862 (GRCm39)	missense	probably damaging	1.00
R9001:Ddx50	UTSW	10	62,475,728 (GRCm39)	missense	probably benign	0.27
R9691:Ddx50	UTSW	10	62,476,524 (GRCm39)	missense	probably benign	0.03
R9799:Ddx50	UTSW	10	62,469,812 (GRCm39)	missense	probably damaging	1.00
X0026:Ddx50	UTSW	10	62,460,970 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTAAAACCACATCCCATGTCCTA -3'
(R):5'- ATTTAGTGTACATGCACCTGGA -3'

Sequencing Primer
(F):5'- CTACCTGTGGAGGAGAACTCTGAATC -3'
(R):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'

Posted On

2016-04-15