Mutagenetix > Incidental Mutation

Incidental Mutation 'R1437:Ddx21'

161308

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

039492-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1437 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62416030-62438060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62434369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 130 (M130T)

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

unknown
Transcript: ENSMUST00000045866
AA Change: M130T

SMART Domains

Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: M130T

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

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.3%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,871,436 (GRCm39)	V330E	possibly damaging	Het
Abcb5	A	G	12: 118,838,497 (GRCm39)	S1022P	probably damaging	Het
Abcc8	A	G	7: 45,829,237 (GRCm39)	I46T	probably damaging	Het
Add3	A	G	19: 53,222,109 (GRCm39)	R275G	probably damaging	Het
Akap1	C	A	11: 88,735,577 (GRCm39)	G362*	probably null	Het
Arhgef4	A	G	1: 34,763,026 (GRCm39)	T761A	unknown	Het
Asap1	A	T	15: 63,991,956 (GRCm39)	L751Q	probably damaging	Het
Atg2a	C	A	19: 6,300,646 (GRCm39)	P741H	probably damaging	Het
Atxn10	T	C	15: 85,243,675 (GRCm39)	I46T	possibly damaging	Het
BC049715	C	A	6: 136,817,090 (GRCm39)	A110E	probably damaging	Het
Bltp1	C	A	3: 36,996,578 (GRCm39)	H1097N	possibly damaging	Het
Btbd7	T	A	12: 102,754,349 (GRCm39)	T806S	possibly damaging	Het
Cdk4	C	A	10: 126,900,558 (GRCm39)	P108H	probably damaging	Het
Cep290	A	G	10: 100,407,963 (GRCm39)	T2391A	probably benign	Het
Col6a3	G	T	1: 90,729,098 (GRCm39)	A1281E	probably damaging	Het
Cpa5	A	T	6: 30,624,654 (GRCm39)	I165F	probably damaging	Het
Ctdp1	G	T	18: 80,493,428 (GRCm39)	Q356K	probably benign	Het
Epha5	T	G	5: 84,381,555 (GRCm39)	D432A	probably damaging	Het
Esr1	ACGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACGCCGCCGCCGCCGCCGCCGCCGCC	10: 4,662,571 (GRCm39)		probably benign	Het
Fads2	A	T	19: 10,069,193 (GRCm39)	L77Q	probably benign	Het
Fbn2	A	T	18: 58,186,731 (GRCm39)	H1723Q	possibly damaging	Het
Fbxo42	C	T	4: 140,895,165 (GRCm39)	H43Y	probably benign	Het
Fry	A	G	5: 150,233,890 (GRCm39)	T121A	possibly damaging	Het
Gpr156	T	G	16: 37,808,904 (GRCm39)	S209A	probably damaging	Het
Hey2	T	C	10: 30,709,845 (GRCm39)	T303A	probably benign	Het
Hivep1	T	A	13: 42,310,616 (GRCm39)	M952K	probably benign	Het
Hydin	C	T	8: 111,308,617 (GRCm39)	Q3968*	probably null	Het
Jup	T	C	11: 100,274,402 (GRCm39)	E96G	probably benign	Het
Kcnn1	A	G	8: 71,297,195 (GRCm39)	I504T	probably benign	Het
Klk1b9	T	C	7: 43,629,114 (GRCm39)	V174A	probably damaging	Het
Lama3	G	C	18: 12,682,284 (GRCm39)	M1083I	possibly damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lrfn2	T	C	17: 49,378,253 (GRCm39)	S445P	probably damaging	Het
Lrp3	C	A	7: 34,912,595 (GRCm39)	G31W	probably damaging	Het
Lrrc8b	T	C	5: 105,629,568 (GRCm39)	L638P	probably damaging	Het
Mief2	C	T	11: 60,621,769 (GRCm39)	T113M	probably benign	Het
Mrps2	T	C	2: 28,358,899 (GRCm39)	F76S	probably damaging	Het
Naca	A	G	10: 127,878,048 (GRCm39)		probably benign	Het
Ndst4	C	A	3: 125,355,099 (GRCm39)	R336S	probably damaging	Het
Nr1i3	CACTCAACACTAC	CAC	1: 171,044,710 (GRCm39)		probably null	Het
Nr5a1	T	A	2: 38,600,685 (GRCm39)	T29S	probably benign	Het
Or5ak23	T	C	2: 85,245,218 (GRCm39)	I2V	probably benign	Het
Or5as1	C	T	2: 86,980,115 (GRCm39)	V297M	possibly damaging	Het
Pald1	A	G	10: 61,177,064 (GRCm39)	F662S	possibly damaging	Het
Pdcd4	G	T	19: 53,897,674 (GRCm39)	A59S	probably damaging	Het
Pde4a	T	C	9: 21,103,888 (GRCm39)		probably null	Het
Pkd1	T	A	17: 24,814,106 (GRCm39)	S4159T	probably damaging	Het
Plaat1	C	A	16: 29,046,922 (GRCm39)	A147E	possibly damaging	Het
Plch1	C	A	3: 63,604,954 (GRCm39)	R1641L	probably benign	Het
Plec	G	T	15: 76,073,481 (GRCm39)	P308Q	probably damaging	Het
Pnkp	A	G	7: 44,509,826 (GRCm39)	S262G	possibly damaging	Het
Pou2f1	A	G	1: 165,719,399 (GRCm39)	V504A	probably damaging	Het
Prepl	G	A	17: 85,395,785 (GRCm39)	R66W	probably damaging	Het
Rasgrf2	T	C	13: 92,167,396 (GRCm39)	K226E	probably damaging	Het
Ror1	T	A	4: 100,269,306 (GRCm39)	F381L	probably benign	Het
Sbsn	C	T	7: 30,452,478 (GRCm39)	Q498*	probably null	Het
Scgb2b19	T	C	7: 32,977,980 (GRCm39)	I106V	probably benign	Het
Sf3a2	G	A	10: 80,640,040 (GRCm39)		probably benign	Het
Sis	T	C	3: 72,841,475 (GRCm39)	H780R	probably damaging	Het
Slc28a3	G	T	13: 58,706,389 (GRCm39)	C617*	probably null	Het
Slc44a1	T	A	4: 53,561,006 (GRCm39)	V574D	probably damaging	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Stt3b	T	A	9: 115,083,995 (GRCm39)	I394F	probably damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ugt2b35	T	C	5: 87,148,890 (GRCm39)	V47A	probably benign	Het
Vmn2r114	A	G	17: 23,510,185 (GRCm39)	F765S	probably damaging	Het
Vps50	C	T	6: 3,517,852 (GRCm39)	Q97*	probably null	Het
Vsig10	A	G	5: 117,489,635 (GRCm39)	Q467R	probably damaging	Het
Wdsub1	T	G	2: 59,708,477 (GRCm39)	Y11S	probably damaging	Het
Zbtb11	T	G	16: 55,811,983 (GRCm39)		probably null	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
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
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'- TCAGAAGGTTGGGAGAGTCCATCC -3'
(R):5'- AGGCCGTTTCCTCCAAAGCAAAG -3'

Sequencing Primer
(F):5'- TGGGAGAGTCCATCCTTCAG -3'
(R):5'- GATCCCCCTAAATCCAGGAAGG -3'

Posted On

2014-03-14