Mutagenetix > Incidental Mutation

Incidental Mutation 'R2005:Ddx50'

225390

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

040014-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R2005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62451674-62486997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 62476243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 306 (H306L)

Ref Sequence

ENSEMBL: ENSMUSP00000020270 (fasta)

Gene Model

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

AlphaFold

Q99MJ9

Predicted Effect

probably benign
Transcript: ENSMUST00000020270
AA Change: H306L

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020270
Gene: ENSMUSG00000020076
AA Change: H306L

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	A	12: 118,841,562 (GRCm39)	A961V	probably benign	Het
Adcy10	A	G	1: 165,352,591 (GRCm39)	Y475C	probably benign	Het
Adgrb3	T	C	1: 25,150,799 (GRCm39)	M1145V	probably benign	Het
Akr1c21	A	G	13: 4,624,214 (GRCm39)	T23A	probably damaging	Het
Ankrd33b	A	T	15: 31,297,814 (GRCm39)	S314R	probably damaging	Het
Apc	T	C	18: 34,443,962 (GRCm39)		probably null	Het
Atg9a	T	A	1: 75,162,635 (GRCm39)	Q460L	probably benign	Het
Birc2	C	T	9: 7,860,342 (GRCm39)	C292Y	probably damaging	Het
Capn5	T	C	7: 97,778,570 (GRCm39)	I350V	probably benign	Het
Cc2d2a	G	A	5: 43,883,715 (GRCm39)		probably null	Het
Cdh22	T	A	2: 165,022,843 (GRCm39)	E76V	probably damaging	Het
Cdh8	T	C	8: 99,760,103 (GRCm39)		probably null	Het
Cdkn1b	ATTCTTCTTC	ATTCTTCTTCTTC	6: 134,898,919 (GRCm39)		probably benign	Het
Cfap54	T	A	10: 92,720,630 (GRCm39)	D2608V	unknown	Het
Crebrf	T	C	17: 26,961,857 (GRCm39)	V318A	possibly damaging	Het
Cwf19l2	A	T	9: 3,430,720 (GRCm39)	N351Y	possibly damaging	Het
Cyp2c67	A	T	19: 39,631,789 (GRCm39)	M136K	probably damaging	Het
Ddx10	A	G	9: 53,151,775 (GRCm39)		probably null	Het
Ddx47	A	G	6: 134,995,084 (GRCm39)	N92S	probably benign	Het
Dnajc27	A	G	12: 4,147,317 (GRCm39)	T167A	possibly damaging	Het
Dscam	T	G	16: 96,840,120 (GRCm39)	K162N	probably benign	Het
Eif4h	G	A	5: 134,656,531 (GRCm39)	T53I	probably benign	Het
Elmo2	T	C	2: 165,140,199 (GRCm39)	N332S	probably benign	Het
Ergic3	A	G	2: 155,853,028 (GRCm39)	N157S	possibly damaging	Het
F2rl1	G	T	13: 95,649,782 (GRCm39)	R367S	probably damaging	Het
Fbxo36	G	A	1: 84,877,790 (GRCm39)	A151T	probably benign	Het
Foxf2	G	T	13: 31,810,124 (GRCm39)	R21L	unknown	Het
Gmip	T	A	8: 70,266,693 (GRCm39)	H269Q	probably benign	Het
Gng4	T	A	13: 13,980,751 (GRCm39)	V32E	probably benign	Het
Grm3	T	C	5: 9,639,793 (GRCm39)	Y84C	possibly damaging	Het
Helz2	C	T	2: 180,873,122 (GRCm39)	R2396H	probably benign	Het
Icosl	A	T	10: 77,907,787 (GRCm39)	M116L	possibly damaging	Het
Itgb3bp	A	C	4: 99,702,295 (GRCm39)	N16K	probably benign	Het
Kcnt2	A	G	1: 140,480,756 (GRCm39)	M824V	probably damaging	Het
Mki67	T	A	7: 135,300,238 (GRCm39)	K1599*	probably null	Het
Mmp25	G	A	17: 23,859,216 (GRCm39)	R144W	probably damaging	Het
Mmrn1	A	T	6: 60,953,068 (GRCm39)	I450F	possibly damaging	Het
Mroh2b	A	T	15: 4,946,640 (GRCm39)	K480M	probably damaging	Het
Nbn	T	A	4: 15,979,351 (GRCm39)	D445E	probably benign	Het
Npbwr1	T	A	1: 5,986,570 (GRCm39)	S315C	probably damaging	Het
Or10ag56	T	A	2: 87,139,792 (GRCm39)	S240T	probably benign	Het
Or1e19	A	T	11: 73,316,065 (GRCm39)	V248E	probably damaging	Het
Or5d38	A	G	2: 87,954,891 (GRCm39)	L146P	probably damaging	Het
Or7g16	G	A	9: 18,726,801 (GRCm39)	S263L	probably benign	Het
Pard3b	A	T	1: 62,184,050 (GRCm39)	E183D	probably benign	Het
Pde10a	G	A	17: 9,147,923 (GRCm39)		probably null	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Prdm13	T	C	4: 21,685,695 (GRCm39)		probably benign	Het
Rc3h2	T	A	2: 37,279,765 (GRCm39)	K461*	probably null	Het
Reep2	C	T	18: 34,978,674 (GRCm39)	T117M	probably damaging	Het
Rhbdd1	A	G	1: 82,318,531 (GRCm39)	N138S	probably benign	Het
Rnf19a	A	T	15: 36,241,916 (GRCm39)	F708I	possibly damaging	Het
Robo2	G	A	16: 73,730,003 (GRCm39)	H1069Y	possibly damaging	Het
Rpl9	C	T	5: 65,546,878 (GRCm39)	V112I	probably benign	Het
Sec16a	A	C	2: 26,329,092 (GRCm39)	S974R	probably benign	Het
Sfrp5	A	G	19: 42,187,275 (GRCm39)	M265T	probably benign	Het
Skint7	T	C	4: 111,842,047 (GRCm39)	I305T	probably benign	Het
Slc6a7	T	C	18: 61,134,713 (GRCm39)	D454G	possibly damaging	Het
Slco6c1	A	G	1: 97,009,214 (GRCm39)	I407T	probably damaging	Het
Slfn8	A	T	11: 82,894,976 (GRCm39)	M610K	probably damaging	Het
Spidr	A	G	16: 15,865,913 (GRCm39)	S299P	probably damaging	Het
Sptbn4	C	T	7: 27,065,844 (GRCm39)	W2034*	probably null	Het
Stard9	T	A	2: 120,495,426 (GRCm39)	F100L	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stc1	T	C	14: 69,269,096 (GRCm39)		probably null	Het
Sun2	T	C	15: 79,610,825 (GRCm39)	E667G	possibly damaging	Het
Tacc2	T	C	7: 130,333,280 (GRCm39)	S511P	probably damaging	Het
Tasp1	T	G	2: 139,819,598 (GRCm39)	K202Q	probably damaging	Het
Tdrd6	A	G	17: 43,939,546 (GRCm39)	F501L	probably damaging	Het
Tgds	A	G	14: 118,368,068 (GRCm39)	V35A	possibly damaging	Het
Tubgcp6	G	A	15: 88,988,369 (GRCm39)	T860I	probably benign	Het
Twf1	C	T	15: 94,483,328 (GRCm39)		probably null	Het
Vangl1	A	G	3: 102,070,782 (GRCm39)	S385P	probably benign	Het
Vmn2r117	A	G	17: 23,696,618 (GRCm39)	I263T	probably damaging	Het
Washc5	A	G	15: 59,213,004 (GRCm39)	L892P	possibly damaging	Het
Wnk4	T	C	11: 101,154,716 (GRCm39)	C302R	probably damaging	Het
Zfp395	A	G	14: 65,626,334 (GRCm39)	E191G	possibly damaging	Het
Zkscan17	A	G	11: 59,383,042 (GRCm39)	L302P	probably damaging	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
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'- TCAGAGTACGCTTTGGACTTTC -3'
(R):5'- CCAAGGCTGGATTGGCTAATC -3'

Sequencing Primer
(F):5'- TACCAGGAGACAAGGTAATA -3'
(R):5'- TCTTTCCTTGCAGTTAATCAAATTCG -3'

Posted On

2014-08-25