Mutagenetix > Incidental Mutation

Incidental Mutation 'R6244:Ddx50'

505463

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

044435-MU

Accession Numbers

Essential gene?

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

Stock #

R6244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62451674-62486997 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 62457345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q99MJ9

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000218304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218372

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

96% (82/85)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	T	C	2: 155,845,150 (GRCm39)	H113R	possibly damaging	Het
Adgrf3	A	T	5: 30,402,531 (GRCm39)	M499K	probably benign	Het
Adgrv1	G	A	13: 81,255,050 (GRCm39)	T211I	probably damaging	Het
Adss2	C	T	1: 177,604,395 (GRCm39)	E153K	probably benign	Het
Ago4	C	A	4: 126,405,280 (GRCm39)	G431V	possibly damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Atp2b4	T	A	1: 133,654,299 (GRCm39)	I769F	probably damaging	Het
Atp9a	T	C	2: 168,531,272 (GRCm39)		probably null	Het
Bltp1	T	C	3: 37,011,148 (GRCm39)	V1782A	probably benign	Het
Brap	C	A	5: 121,803,372 (GRCm39)	D173E	probably benign	Het
Brca2	G	T	5: 150,490,443 (GRCm39)	R3035L	probably benign	Het
Ccdc8	C	A	7: 16,730,176 (GRCm39)	P555Q	probably benign	Het
Ccser2	A	G	14: 36,662,675 (GRCm39)	S170P	probably benign	Het
Celsr2	T	C	3: 108,300,444 (GRCm39)	H860R	probably damaging	Het
Cenpc1	C	A	5: 86,194,244 (GRCm39)	R174M	probably damaging	Het
Cfap57	T	G	4: 118,436,607 (GRCm39)	I930L	probably damaging	Het
Cx3cr1	C	T	9: 119,880,760 (GRCm39)	R214H	probably damaging	Het
Cyp4f14	T	A	17: 33,125,291 (GRCm39)	H429L	probably benign	Het
D5Ertd579e	A	G	5: 36,772,620 (GRCm39)	F592L	probably damaging	Het
Ddb1	A	G	19: 10,603,287 (GRCm39)	E865G	probably damaging	Het
Dpp6	A	G	5: 27,254,626 (GRCm39)	T14A	probably damaging	Het
Echs1	C	A	7: 139,692,982 (GRCm39)	Q51H	possibly damaging	Het
Ecm2	A	T	13: 49,683,783 (GRCm39)	D587V	probably damaging	Het
Ect2l	A	T	10: 18,016,145 (GRCm39)	Y666N	possibly damaging	Het
Epha2	G	A	4: 141,044,223 (GRCm39)	G342S	probably benign	Het
Fbxo33	C	A	12: 59,252,865 (GRCm39)	K211N	probably benign	Het
Fchsd2	A	G	7: 100,908,983 (GRCm39)		probably null	Het
Fen1	A	G	19: 10,178,051 (GRCm39)	V131A	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Flnb	A	G	14: 7,892,092 (GRCm38)	E587G	probably damaging	Het
Foxd3	A	G	4: 99,545,477 (GRCm39)	T206A	possibly damaging	Het
Fut1	A	G	7: 45,268,730 (GRCm39)	E228G	possibly damaging	Het
Galnt13	T	C	2: 54,823,560 (GRCm39)	F379L	probably damaging	Het
Gcnt2	A	C	13: 41,014,717 (GRCm39)	E296A	probably damaging	Het
Gm7145	T	A	1: 117,913,870 (GRCm39)	C251S	probably damaging	Het
Gpam	G	A	19: 55,059,417 (GRCm39)	P810L	probably damaging	Het
Il1rl2	T	A	1: 40,366,726 (GRCm39)	L87M	possibly damaging	Het
Itgae	A	G	11: 73,036,427 (GRCm39)	S1122G	probably damaging	Het
Kcnh7	T	A	2: 63,012,570 (GRCm39)	D46V	probably damaging	Het
Kcnn3	T	G	3: 89,552,830 (GRCm39)	Y511*	probably null	Het
Kdm3b	T	A	18: 34,926,058 (GRCm39)	I66N	probably damaging	Het
Klk1b27	A	T	7: 43,703,974 (GRCm39)	H39L	probably benign	Het
Kmo	C	T	1: 175,487,261 (GRCm39)	T404I	possibly damaging	Het
Krt222	C	T	11: 99,125,884 (GRCm39)		probably null	Het
Magi3	G	C	3: 103,923,013 (GRCm39)	H1235D	probably benign	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Med15	G	A	16: 17,470,609 (GRCm39)	Q583*	probably null	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Myh13	A	G	11: 67,253,327 (GRCm39)	M1488V	probably benign	Het
Naip2	A	T	13: 100,288,645 (GRCm39)	F1193L	probably damaging	Het
Nop58	T	A	1: 59,742,014 (GRCm39)	M181K	probably damaging	Het
Npepps	A	T	11: 97,104,616 (GRCm39)	V796D	probably damaging	Het
Nr1d1	A	G	11: 98,661,363 (GRCm39)	F301S	probably damaging	Het
Nynrin	G	A	14: 56,105,485 (GRCm39)	V832I	probably damaging	Het
Or13a28	C	A	7: 140,218,346 (GRCm39)	S244Y	probably damaging	Het
Or1j14	T	A	2: 36,418,353 (GRCm39)	C310S	probably benign	Het
Or2ak7	A	T	11: 58,574,830 (GRCm39)	T44S	possibly damaging	Het
Or4e1	T	A	14: 52,701,352 (GRCm39)	Y38F	probably damaging	Het
Or8k1	T	A	2: 86,047,566 (GRCm39)	T163S	possibly damaging	Het
Phrf1	T	A	7: 140,817,586 (GRCm39)	C132S	probably damaging	Het
Plekhn1	T	C	4: 156,315,015 (GRCm39)		probably null	Het
Polr2a	G	A	11: 69,635,052 (GRCm39)	T569M	probably damaging	Het
Prr29	A	G	11: 106,267,458 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Homo
Sc5d	T	C	9: 42,166,717 (GRCm39)	E274G	probably benign	Het
Serpina1d	A	T	12: 103,731,087 (GRCm39)		probably null	Het
Serpinb11	T	A	1: 107,299,972 (GRCm39)	I106N	probably damaging	Het
Setd2	G	A	9: 110,377,733 (GRCm39)	R516K	probably damaging	Het
Sirt2	G	T	7: 28,487,222 (GRCm39)	C291F	probably damaging	Het
Stac3	T	C	10: 127,344,044 (GRCm39)	V314A	probably damaging	Het
Stat6	C	T	10: 127,493,581 (GRCm39)		probably null	Het
Strn3	A	G	12: 51,656,890 (GRCm39)	V712A	probably damaging	Het
Tmc5	G	T	7: 118,233,437 (GRCm39)	G84C	possibly damaging	Het
Tnik	C	A	3: 28,704,328 (GRCm39)	L996I	probably damaging	Het
Trim30d	G	T	7: 104,136,817 (GRCm39)	T129K	probably damaging	Het
Triml1	G	T	8: 43,591,793 (GRCm39)	Y188*	probably null	Het
Trpc7	A	G	13: 56,921,705 (GRCm39)	Y760H	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ubash3a	A	T	17: 31,458,246 (GRCm39)	Q575L	possibly damaging	Het
Usp49	T	A	17: 47,983,827 (GRCm39)	C61*	probably null	Het
Vmn2r18	A	T	5: 151,508,116 (GRCm39)	V336E	probably damaging	Het
Vwa8	T	C	14: 79,324,102 (GRCm39)	V1135A	probably benign	Het
Zcchc4	T	C	5: 52,940,503 (GRCm39)	V24A	probably benign	Het
Zfp354c	A	G	11: 50,705,798 (GRCm39)	Y426H	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
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
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'- CCTTTCAGGAGGCACATTCTGG -3'
(R):5'- CCTGTGATGTTCTGATCTAATTCTG -3'

Sequencing Primer
(F):5'- CATTCTGGTTACGTGAGACACAGC -3'
(R):5'- GACATAGTCTCTGTGTGCTCTATAAG -3'

Posted On

2018-02-28