Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Ddx50'

67575

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

038912-MU

Accession Numbers

Essential gene?

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

Stock #

R0731 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62451674-62486997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62452028 bp (GRCm39)

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
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Cdh11	T	A	8: 103,394,651 (GRCm39)	N264Y	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	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
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'- AGTCACCAGCTACCAGCCCTTATG -3'
(R):5'- ATCTAATCCCAGACAGAGGAGCGG -3'

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

Posted On

2013-09-03