Mutagenetix > Incidental Mutation

Incidental Mutation 'R7517:Ddx21'

582529

Institutional Source

Beutler Lab

Gene Symbol

Ddx21

Ensembl Gene

ENSMUSG00000020075

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 21

Synonyms

D10Wsu42e, RH II/Gu, D10Ertd645e, RH-II/Gualpha

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7517 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62580251-62602281 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 62588790 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 544 (P544L)

Ref Sequence

ENSEMBL: ENSMUSP00000042691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045866]

AlphaFold

Q9JIK5

PDB Structure

Gu_alpha_helicase [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000045866
AA Change: P544L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: P544L

Domain	Start	End	E-Value	Type
low complexity region	24	45	N/A	INTRINSIC
low complexity region	87	98	N/A	INTRINSIC
low complexity region	107	139	N/A	INTRINSIC
internal_repeat_1	140	160	2.96e-8	PROSPERO
low complexity region	162	171	N/A	INTRINSIC
low complexity region	199	208	N/A	INTRINSIC
internal_repeat_1	214	234	2.96e-8	PROSPERO
DEXDc	277	484	2.76e-56	SMART
HELICc	524	604	1.55e-27	SMART
low complexity region	682	688	N/A	INTRINSIC
Pfam:GUCT	692	787	1.6e-33	PFAM
low complexity region	827	843	N/A	INTRINSIC

Meta Mutation Damage Score

0.2362

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (46/46)

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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd28	A	T	14: 31,715,374	V578E	possibly damaging	Het
Arhgap35	A	T	7: 16,562,207	C978S	probably benign	Het
Asph	A	T	4: 9,517,697	V475E	probably damaging	Het
Atf7ip2	T	A	16: 10,241,535		probably null	Het
Bace1	A	T	9: 45,860,261	D491V	probably benign	Het
Birc2	A	G	9: 7,819,423	I496T	probably benign	Het
Cacna2d4	C	T	6: 119,271,921	R448C	probably benign	Het
Ccdc181	T	C	1: 164,280,420	F224S	probably damaging	Het
Cdan1	C	T	2: 120,727,924	R469Q	probably damaging	Het
Epas1	C	A	17: 86,831,098	T874N	possibly damaging	Het
Fam13b	A	T	18: 34,494,607	D180E	probably damaging	Het
Fcgbp	G	A	7: 28,085,369	V285M	probably damaging	Het
Gcn1l1	T	G	5: 115,619,696	L2487V	probably benign	Het
Gm19410	C	T	8: 35,773,618	A216V	possibly damaging	Het
Gm4871	G	T	5: 145,032,620	R30S	probably damaging	Het
Gtf2ird1	T	C	5: 134,362,525	D899G	probably benign	Het
Hipk3	T	C	2: 104,434,714	T674A	probably benign	Het
Hnrnph3	A	G	10: 63,018,895	L39S	unknown	Het
Ift122	T	C	6: 115,890,582	V431A	probably benign	Het
Il1f8	A	G	2: 24,159,878	H167R	probably benign	Het
Lce3e	T	A	3: 92,967,835	C33S	unknown	Het
Lrrc26	T	C	2: 25,290,533	I182T	probably benign	Het
Magi1	T	C	6: 93,708,208	R730G	probably damaging	Het
Meis3	G	T	7: 16,177,818	V102F	probably damaging	Het
Mpp7	G	A	18: 7,440,183	Q263*	probably null	Het
Myo7b	A	T	18: 32,013,267	I155N	probably damaging	Het
Nrip1	A	T	16: 76,291,184	*1162K	probably null	Het
Olfr1104	A	C	2: 87,022,142	V134G	probably benign	Het
Olfr1300-ps1	T	C	2: 111,692,099	F194L	unknown	Het
Olfr401	T	A	11: 74,121,509	D73E	probably damaging	Het
Pdik1l	T	A	4: 134,278,425	E326V	possibly damaging	Het
Phrf1	T	C	7: 141,256,610	M265T	unknown	Het
Piezo2	A	T	18: 63,082,925	N1222K	possibly damaging	Het
Pkd1	G	A	17: 24,580,419	V2871M	probably damaging	Het
Pon2	T	G	6: 5,268,997	N226H	possibly damaging	Het
Rftn2	G	T	1: 55,195,549	D338E	probably damaging	Het
Rnf123	A	T	9: 108,070,274	Y171*	probably null	Het
Ror2	A	T	13: 53,110,865	N730K	possibly damaging	Het
Serpinb6c	T	A	13: 33,895,295	N138I	probably damaging	Het
Smco1	A	T	16: 32,273,967	H152L	possibly damaging	Het
Tgm3	T	G	2: 130,041,764	S447R	probably benign	Het
Topbp1	A	G	9: 103,332,733	K860E	possibly damaging	Het
Uba7	C	A	9: 107,976,698		probably benign	Het
Ucp3	A	G	7: 100,481,882	N181D	probably damaging	Het
Unc13b	C	A	4: 43,215,765	S21R	probably benign	Het
Usp34	T	A	11: 23,446,968	S2395R		Het

Other mutations in Ddx21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00709:Ddx21	APN	10	62598402	nonsense	probably null
IGL01144:Ddx21	APN	10	62598550	missense	unknown
IGL01655:Ddx21	APN	10	62587491	missense	probably damaging	0.98
IGL01694:Ddx21	APN	10	62598651	nonsense	probably null
IGL01752:Ddx21	APN	10	62587507	missense	probably damaging	1.00
IGL02827:Ddx21	APN	10	62598374	missense	probably benign	0.04
IGL03140:Ddx21	APN	10	62594071	missense	probably damaging	1.00
IGL03248:Ddx21	APN	10	62591990	missense	possibly damaging	0.87
R0131:Ddx21	UTSW	10	62584752	missense	possibly damaging	0.96
R0555:Ddx21	UTSW	10	62587528	missense	probably damaging	1.00
R1437:Ddx21	UTSW	10	62598590	missense	unknown
R1780:Ddx21	UTSW	10	62594147	splice site	probably benign
R1875:Ddx21	UTSW	10	62594068	missense	probably damaging	1.00
R2696:Ddx21	UTSW	10	62594092	missense	possibly damaging	0.93
R4639:Ddx21	UTSW	10	62591837	nonsense	probably null
R4678:Ddx21	UTSW	10	62594003	missense	probably benign	0.06
R4767:Ddx21	UTSW	10	62591972	missense	probably damaging	1.00
R4799:Ddx21	UTSW	10	62588121	missense	probably damaging	0.98
R5145:Ddx21	UTSW	10	62587539	critical splice acceptor site	probably null
R5243:Ddx21	UTSW	10	62602213	start codon destroyed	probably null	0.02
R6085:Ddx21	UTSW	10	62594087	missense	probably damaging	1.00
R6701:Ddx21	UTSW	10	62590691	missense	probably damaging	1.00
R7134:Ddx21	UTSW	10	62591855	missense	possibly damaging	0.95
R7555:Ddx21	UTSW	10	62598243	missense	probably benign	0.03
R7577:Ddx21	UTSW	10	62590670	missense	probably benign	0.19
R7704:Ddx21	UTSW	10	62594086	missense	probably damaging	1.00
R8902:Ddx21	UTSW	10	62598707	missense	probably benign	0.01
R9126:Ddx21	UTSW	10	62588700	missense	probably damaging	1.00
R9344:Ddx21	UTSW	10	62593046	missense	possibly damaging	0.66
R9412:Ddx21	UTSW	10	62594102	missense	possibly damaging	0.94
R9480:Ddx21	UTSW	10	62598873	missense	probably benign
Z1177:Ddx21	UTSW	10	62587538	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCTGAAAACTGCATAAAAGTCAG -3'
(R):5'- GTGCAAGAAGACATCTGCTCTTC -3'

Sequencing Primer
(F):5'- GTCAGTGAAAGGACTTTTAGTAACAC -3'
(R):5'- AGAGGTCTTGAGTTCCCTGCAAC -3'

Posted On

2019-10-17