Mutagenetix > Incidental Mutation

Incidental Mutation 'R9344:Ddx21'

707695

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62416030-62438060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62428825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 362 (A362S)

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

possibly damaging
Transcript: ENSMUST00000045866
AA Change: A362S

PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: A362S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,591,135 (GRCm39)	V31A	possibly damaging	Het
Adss2	A	G	1: 177,597,527 (GRCm39)	Y378H	probably damaging	Het
Aldh1a1	T	A	19: 20,608,150 (GRCm39)	V324D	probably damaging	Het
Ankrd33b	A	G	15: 31,297,903 (GRCm39)	S285P	probably damaging	Het
Arel1	C	T	12: 84,981,371 (GRCm39)	G269S	probably damaging	Het
Arhgap44	A	G	11: 65,053,463 (GRCm39)	M1T	probably null	Het
Arpin	C	T	7: 79,577,983 (GRCm39)	V149I	probably benign	Het
Arpp21	A	G	9: 112,014,720 (GRCm39)	L28P	possibly damaging	Het
Ccr8	G	A	9: 119,923,133 (GRCm39)	V83I	probably damaging	Het
Cnksr1	T	C	4: 133,963,508 (GRCm39)	E58G	probably damaging	Het
Dctn2	T	A	10: 127,114,084 (GRCm39)	H341Q	probably damaging	Het
Dnajc1	C	T	2: 18,289,586 (GRCm39)	V274I	probably benign	Het
Dock3	A	C	9: 106,870,763 (GRCm39)	C550W	probably damaging	Het
Dst	T	C	1: 34,220,676 (GRCm39)	L2160S	probably damaging	Het
Duox1	T	A	2: 122,168,163 (GRCm39)	M1096K	probably benign	Het
Dync2h1	A	T	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
E030025P04Rik	C	T	11: 109,030,454 (GRCm39)		probably null	Het
Eid2b	T	C	7: 27,977,591 (GRCm39)	M129T	possibly damaging	Het
Fnip2	G	A	3: 79,407,717 (GRCm39)	S288F	possibly damaging	Het
Grm4	G	T	17: 27,653,737 (GRCm39)	R738S	probably benign	Het
Gsto2	A	G	19: 47,864,884 (GRCm39)	D139G	probably benign	Het
Herc2	T	A	7: 55,772,112 (GRCm39)	V1097E	probably benign	Het
Impg1	G	A	9: 80,312,040 (GRCm39)	A181V	probably benign	Het
Irs2	G	T	8: 11,057,289 (GRCm39)	S381*	probably null	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Lrrd1	A	C	5: 3,908,819 (GRCm39)	D697A	possibly damaging	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncapg2	G	A	12: 116,388,273 (GRCm39)	R319H	probably damaging	Het
Nid1	A	G	13: 13,652,894 (GRCm39)	Y568C	probably damaging	Het
Noc2l	G	A	4: 156,325,130 (GRCm39)	C325Y	probably damaging	Het
Or12e9	A	T	2: 87,202,161 (GRCm39)	D95V	possibly damaging	Het
Or1e17	C	A	11: 73,831,744 (GRCm39)	S224Y	possibly damaging	Het
Pde2a	G	T	7: 101,144,891 (GRCm39)	V169F	possibly damaging	Het
Pon3	T	C	6: 5,221,586 (GRCm39)	K348R	probably benign	Het
Ppp6c	A	G	2: 39,090,052 (GRCm39)		probably null	Het
Prrc2b	G	A	2: 32,103,600 (GRCm39)	G1026D	probably benign	Het
Psg22	A	T	7: 18,460,816 (GRCm39)	T482S	possibly damaging	Het
Rdh19	G	A	10: 127,692,740 (GRCm39)	V136M	probably damaging	Het
Sbf2	T	A	7: 109,940,535 (GRCm39)	N1275I	probably benign	Het
Sema4c	T	C	1: 36,592,395 (GRCm39)	N182D	probably damaging	Het
Slc7a12	T	A	3: 14,570,491 (GRCm39)	H414Q	probably damaging	Het
Slitrk5	A	G	14: 111,916,702 (GRCm39)	I109V	probably damaging	Het
Spag17	C	T	3: 100,010,793 (GRCm39)	P2096S	probably benign	Het
Steap1	T	A	5: 5,786,459 (GRCm39)	D326V	probably damaging	Het
Tacr1	C	T	6: 82,380,847 (GRCm39)	T86I	probably damaging	Het
Tenm4	C	T	7: 96,545,352 (GRCm39)	T2493I	probably damaging	Het
Tet2	A	G	3: 133,175,115 (GRCm39)	S1411P	possibly damaging	Het
Tom1	C	T	8: 75,785,076 (GRCm39)	R303C	probably damaging	Het
Trav7n-4	T	A	14: 53,329,200 (GRCm39)	I70N	possibly damaging	Het
Utrn	A	C	10: 12,560,275 (GRCm39)	V1338G	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r122	A	T	7: 20,867,271 (GRCm39)	H261Q	probably benign	Het
Vmn1r40	G	T	6: 89,691,235 (GRCm39)	L17F	probably benign	Het
Vmn2r54	A	G	7: 12,366,283 (GRCm39)	V217A	probably benign	Het
Vmn2r55	C	A	7: 12,385,782 (GRCm39)	G733*	probably null	Het
Vmn2r98	A	T	17: 19,286,777 (GRCm39)	N425I	probably benign	Het
Vps51	C	T	19: 6,126,345 (GRCm39)	V136I	unknown	Het
Zfp184	T	C	13: 22,144,411 (GRCm39)	C706R	probably damaging	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
R5243:Ddx21	UTSW	10	62,437,992 (GRCm39)	start codon destroyed	probably null	0.02
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
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'- AGACTGACACTGTGTCTGCC -3'
(R):5'- ACATGGTGACTGGTTCCGTG -3'

Sequencing Primer
(F):5'- GCCCTCTTGAATCATTAGAGCACTG -3'
(R):5'- ACTGGTTCCGTGTATGGCAG -3'

Posted On

2022-04-18