Mutagenetix > Incidental Mutation

Incidental Mutation 'R5243:Ddx21'

400996

Institutional Source

Beutler Lab

Gene Symbol

Ddx21

Ensembl Gene

ENSMUSG00000020075

Gene Name

DExD box helicase 21

Synonyms

RH II/Gu, D10Wsu42e, RH-II/Gualpha, DEAD (Asp-Glu-Ala-Asp) box polypeptide 21, D10Ertd645e

MMRRC Submission

042814-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62416030-62438060 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 62437992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1 (M1T)

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 null
Transcript: ENSMUST00000045866
AA Change: M1T

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: M1T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218594

Meta Mutation Damage Score

0.9565

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (62/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,543 (GRCm39)		probably null	Het
Aatk	A	G	11: 119,907,594 (GRCm39)	L78P	probably damaging	Het
Acadsb	T	A	7: 131,045,972 (GRCm39)	I412K	probably damaging	Het
Acer3	T	C	7: 97,867,277 (GRCm39)	R246G	possibly damaging	Het
Atp1a3	T	A	7: 24,693,994 (GRCm39)	I387F	probably damaging	Het
Atp6v1b2	A	T	8: 69,556,391 (GRCm39)	M300L	probably benign	Het
Aurkb	T	A	11: 68,936,752 (GRCm39)		probably benign	Het
Card10	C	A	15: 78,664,872 (GRCm39)	G694V	possibly damaging	Het
Ccdc171	A	G	4: 83,522,344 (GRCm39)	N336S	probably damaging	Het
Copg2	T	C	6: 30,750,626 (GRCm39)	T720A	probably benign	Het
Coro2a	A	T	4: 46,545,620 (GRCm39)	W272R	probably damaging	Het
Cpne6	T	A	14: 55,750,204 (GRCm39)	C112S	probably damaging	Het
Dohh	A	G	10: 81,223,203 (GRCm39)	R161G	probably benign	Het
Dsc1	A	C	18: 20,232,216 (GRCm39)	V264G	probably damaging	Het
E4f1	A	T	17: 24,666,292 (GRCm39)	C198S	probably damaging	Het
Evpl	T	A	11: 116,113,795 (GRCm39)	E1298D	probably damaging	Het
Grid2ip	A	T	5: 143,363,260 (GRCm39)	I246F	probably damaging	Het
H2-M1	A	G	17: 36,982,193 (GRCm39)	F136S	possibly damaging	Het
Hck	T	C	2: 152,986,412 (GRCm39)	V387A	probably damaging	Het
Hdac1	G	A	4: 129,410,646 (GRCm39)		probably benign	Het
Hydin	A	C	8: 111,232,380 (GRCm39)	Q1633P	possibly damaging	Het
Igkv12-41	A	G	6: 69,835,686 (GRCm39)	I22T	probably damaging	Het
Ints3	CA	CAA	3: 90,308,451 (GRCm39)		probably null	Het
Itpr2	C	G	6: 146,089,044 (GRCm39)	W2188C	probably damaging	Het
Kcnt1	A	G	2: 25,798,086 (GRCm39)	E899G	probably damaging	Het
Lgals8	C	A	13: 12,469,645 (GRCm39)	V12L	probably benign	Het
Lgr6	T	C	1: 135,037,010 (GRCm39)		probably benign	Het
Lrrc8b	T	G	5: 105,628,812 (GRCm39)	I386S	probably damaging	Het
Mks1	T	C	11: 87,747,504 (GRCm39)		probably benign	Het
Mon1b	A	G	8: 114,364,553 (GRCm39)	D110G	possibly damaging	Het
Mpdz	G	T	4: 81,225,116 (GRCm39)	A1437E	probably damaging	Het
Nbeal1	T	A	1: 60,309,487 (GRCm39)	N1753K	probably damaging	Het
Nceh1	T	C	3: 27,295,837 (GRCm39)	V366A	probably damaging	Het
Ncor1	A	T	11: 62,229,788 (GRCm39)	D893E	probably damaging	Het
Npc1	T	A	18: 12,331,688 (GRCm39)		probably benign	Het
Or1j15	T	C	2: 36,458,655 (GRCm39)	L15P	probably damaging	Het
Or9i1b	A	G	19: 13,897,025 (GRCm39)	I214V	probably damaging	Het
Podxl2	T	C	6: 88,826,356 (GRCm39)	T317A	probably benign	Het
Prl8a9	T	G	13: 27,746,446 (GRCm39)	Q54P	probably damaging	Het
Prpf31	C	T	7: 3,641,753 (GRCm39)	R351*	probably null	Het
Pspc1	C	T	14: 57,001,648 (GRCm39)	G242D	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Rif1	T	A	2: 52,001,836 (GRCm39)	H1763Q	possibly damaging	Het
Rpusd3	T	C	6: 113,395,025 (GRCm39)	T85A	probably benign	Het
Rttn	A	G	18: 89,126,187 (GRCm39)	I1853M	possibly damaging	Het
Sacs	T	A	14: 61,443,406 (GRCm39)	C1817*	probably null	Het
Scrib	A	T	15: 75,937,101 (GRCm39)	V335E	probably benign	Het
Sdk2	A	G	11: 113,715,912 (GRCm39)	L1549P	possibly damaging	Het
Slc25a11	C	T	11: 70,536,924 (GRCm39)	G44S	probably damaging	Het
Slc6a3	A	G	13: 73,719,570 (GRCm39)	Y533C	possibly damaging	Het
Slc7a5	A	G	8: 122,623,274 (GRCm39)	V191A	probably damaging	Het
Son	A	G	16: 91,451,621 (GRCm39)	K123E	probably damaging	Het
Tcstv3	T	A	13: 120,779,125 (GRCm39)	M8K	probably benign	Het
Tie1	A	G	4: 118,339,548 (GRCm39)	V411A	probably damaging	Het
Upk3bl	C	A	5: 136,088,977 (GRCm39)	D1E	possibly damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Wnk2	T	A	13: 49,226,054 (GRCm39)	N1043I	possibly damaging	Het
Zfp407	A	T	18: 84,579,216 (GRCm39)	H632Q	probably damaging	Het
Zfp423	T	C	8: 88,500,275 (GRCm39)	K1174R	probably benign	Het

Other mutations in Ddx21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00709:Ddx21	APN	10	62,434,181 (GRCm39)	nonsense	probably null
IGL01144:Ddx21	APN	10	62,434,329 (GRCm39)	missense	unknown
IGL01655:Ddx21	APN	10	62,423,270 (GRCm39)	missense	probably damaging	0.98
IGL01694:Ddx21	APN	10	62,434,430 (GRCm39)	nonsense	probably null
IGL01752:Ddx21	APN	10	62,423,286 (GRCm39)	missense	probably damaging	1.00
IGL02827:Ddx21	APN	10	62,434,153 (GRCm39)	missense	probably benign	0.04
IGL03140:Ddx21	APN	10	62,429,850 (GRCm39)	missense	probably damaging	1.00
IGL03248:Ddx21	APN	10	62,427,769 (GRCm39)	missense	possibly damaging	0.87
R0131:Ddx21	UTSW	10	62,420,531 (GRCm39)	missense	possibly damaging	0.96
R0555:Ddx21	UTSW	10	62,423,307 (GRCm39)	missense	probably damaging	1.00
R1437:Ddx21	UTSW	10	62,434,369 (GRCm39)	missense	unknown
R1780:Ddx21	UTSW	10	62,429,926 (GRCm39)	splice site	probably benign
R1875:Ddx21	UTSW	10	62,429,847 (GRCm39)	missense	probably damaging	1.00
R2696:Ddx21	UTSW	10	62,429,871 (GRCm39)	missense	possibly damaging	0.93
R4639:Ddx21	UTSW	10	62,427,616 (GRCm39)	nonsense	probably null
R4678:Ddx21	UTSW	10	62,429,782 (GRCm39)	missense	probably benign	0.06
R4767:Ddx21	UTSW	10	62,427,751 (GRCm39)	missense	probably damaging	1.00
R4799:Ddx21	UTSW	10	62,423,900 (GRCm39)	missense	probably damaging	0.98
R5145:Ddx21	UTSW	10	62,423,318 (GRCm39)	critical splice acceptor site	probably null
R6085:Ddx21	UTSW	10	62,429,866 (GRCm39)	missense	probably damaging	1.00
R6701:Ddx21	UTSW	10	62,426,470 (GRCm39)	missense	probably damaging	1.00
R7134:Ddx21	UTSW	10	62,427,634 (GRCm39)	missense	possibly damaging	0.95
R7517:Ddx21	UTSW	10	62,424,569 (GRCm39)	missense	probably damaging	0.98
R7555:Ddx21	UTSW	10	62,434,022 (GRCm39)	missense	probably benign	0.03
R7577:Ddx21	UTSW	10	62,426,449 (GRCm39)	missense	probably benign	0.19
R7704:Ddx21	UTSW	10	62,429,865 (GRCm39)	missense	probably damaging	1.00
R8902:Ddx21	UTSW	10	62,434,486 (GRCm39)	missense	probably benign	0.01
R9126:Ddx21	UTSW	10	62,424,479 (GRCm39)	missense	probably damaging	1.00
R9344:Ddx21	UTSW	10	62,428,825 (GRCm39)	missense	possibly damaging	0.66
R9412:Ddx21	UTSW	10	62,429,881 (GRCm39)	missense	possibly damaging	0.94
R9480:Ddx21	UTSW	10	62,434,652 (GRCm39)	missense	probably benign
Z1177:Ddx21	UTSW	10	62,423,317 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCAAGTTTCAGACTTTGCCG -3'
(R):5'- CACATCGCAGCTTTTCATGG -3'

Sequencing Primer
(F):5'- TCTGGTCCGCACTGTGAC -3'
(R):5'- GTAAGATTCAAGGCCGTTCTCCAAG -3'

Posted On

2016-07-06