Mutagenetix > Incidental Mutation

Incidental Mutation 'R0123:Ddx50'

21176

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

038408-MU

Accession Numbers

Essential gene?

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

Stock #

R0123 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

62451674-62486997 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 62457156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217970

Predicted Effect

probably benign
Transcript: ENSMUST00000218304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218372

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

99% (71/72)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Becn1	A	G	11: 101,181,324 (GRCm39)	Y326H	probably damaging	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1g	T	A	11: 94,300,302 (GRCm39)	H2156L	probably damaging	Het
Cd22	A	G	7: 30,566,533 (GRCm39)		probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,232,412 (GRCm39)	L892P	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Cts8	T	A	13: 61,401,391 (GRCm39)	M75L	probably benign	Het
Dlg5	T	C	14: 24,197,274 (GRCm39)	M1558V	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Ell2	T	C	13: 75,910,259 (GRCm39)		probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Nrxn1	A	T	17: 91,302,915 (GRCm39)		probably null	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Upk1a	A	T	7: 30,311,819 (GRCm39)	I25N	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp982	A	T	4: 147,597,093 (GRCm39)	K150I	probably benign	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zswim8	T	C	14: 20,766,558 (GRCm39)		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
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
R4918: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'- ACACACAGTAAGTATGCCATAGCAGGA -3'
(R):5'- CAGGAAGCACCGTAGTCAAACTTCA -3'

Sequencing Primer
(F):5'- tcctaacattcattaaatggtcctg -3'
(R):5'- GCACCGTAGTCAAACTTCATTGTC -3'

Posted On

2013-04-11