Mutagenetix > Incidental Mutation

Incidental Mutation 'R6701:Ddx21'

528758

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

044819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

62416030-62438060 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62426470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 461 (Y461C)

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: Y461C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: Y461C

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: ENSMUST00000218393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220060

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 96.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,243 (GRCm39)	K684N	probably damaging	Het
Akna	C	T	4: 63,313,517 (GRCm39)	G202D	probably benign	Het
Alpk1	T	A	3: 127,522,985 (GRCm39)	D19V	probably damaging	Het
Arid4a	A	T	12: 71,134,286 (GRCm39)	K1196I	probably damaging	Het
Asic3	A	T	5: 24,619,127 (GRCm39)	M140L	possibly damaging	Het
Bfsp2	C	T	9: 103,357,077 (GRCm39)	V117M	possibly damaging	Het
Bltp3a	T	A	17: 28,106,331 (GRCm39)	C952*	probably null	Het
Cd244a	C	A	1: 171,401,723 (GRCm39)	L150M	possibly damaging	Het
Cd3e	T	C	9: 44,912,351 (GRCm39)	Y131C	probably damaging	Het
Clptm1l	T	C	13: 73,757,025 (GRCm39)	I202T	probably benign	Het
Cnot4	G	T	6: 35,045,539 (GRCm39)	T224K	probably damaging	Het
Col24a1	A	G	3: 145,020,141 (GRCm39)	T171A	probably benign	Het
Col6a3	C	T	1: 90,720,184 (GRCm39)	R1552Q	probably benign	Het
Dcc	T	A	18: 71,942,191 (GRCm39)	T309S	probably benign	Het
Dnah10	G	A	5: 124,837,223 (GRCm39)	V989M	probably benign	Het
Dppa4	A	T	16: 48,111,674 (GRCm39)	K220*	probably null	Het
Dysf	G	A	6: 84,089,172 (GRCm39)	G912S	probably damaging	Het
Efhb	A	T	17: 53,706,091 (GRCm39)	N815K	probably benign	Het
Eml6	T	A	11: 29,735,748 (GRCm39)	L1139F	probably damaging	Het
Eprs1	T	G	1: 185,103,087 (GRCm39)	I78S	probably damaging	Het
Fat1	C	A	8: 45,403,718 (GRCm39)	S156R	probably damaging	Het
Firrm	T	C	1: 163,799,412 (GRCm39)		probably null	Het
Frzb	G	A	2: 80,277,163 (GRCm39)	R8W	possibly damaging	Het
Guf1	T	A	5: 69,715,596 (GRCm39)	D47E	probably damaging	Het
Haus3	A	T	5: 34,325,078 (GRCm39)	F194I	probably damaging	Het
Hivep3	C	T	4: 119,951,737 (GRCm39)	R18W	probably damaging	Het
Hnf1b	A	G	11: 83,779,920 (GRCm39)	T392A	probably damaging	Het
Hsd17b1	C	A	11: 100,970,981 (GRCm39)	C312*	probably null	Het
Ighg2b	T	C	12: 113,270,699 (GRCm39)	T144A	unknown	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Irag2	G	T	6: 145,090,702 (GRCm39)	E61*	probably null	Het
Jhy	T	C	9: 40,828,887 (GRCm39)	R340G	probably damaging	Het
Klra3	C	G	6: 130,307,216 (GRCm39)	V144L	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Lrrc4	A	G	6: 28,830,905 (GRCm39)	F237L	possibly damaging	Het
Lyst	T	A	13: 13,856,070 (GRCm39)	C2464S	probably benign	Het
Maml1	T	C	11: 50,157,509 (GRCm39)	E222G	probably damaging	Het
Med15	C	T	16: 17,489,447 (GRCm39)		probably benign	Het
Naalad2	T	C	9: 18,296,444 (GRCm39)	I69V	probably null	Het
Neb	T	C	2: 52,181,220 (GRCm39)	K1129R	probably damaging	Het
Nsun6	A	T	2: 15,041,113 (GRCm39)	N159K	probably benign	Het
Nup153	A	T	13: 46,840,541 (GRCm39)	N1022K	probably benign	Het
Or1e29	T	C	11: 73,667,296 (GRCm39)	N286D	probably damaging	Het
Or5g9	A	G	2: 85,552,675 (GRCm39)	K309E	probably benign	Het
Or5w15	C	T	2: 87,567,753 (GRCm39)	R305K	probably benign	Het
Otof	T	A	5: 30,528,141 (GRCm39)	K1901*	probably null	Het
Pde1c	A	T	6: 56,158,685 (GRCm39)	Y136N	probably damaging	Het
Phc1	G	T	6: 122,302,733 (GRCm39)	N263K	probably damaging	Het
Plxna1	A	T	6: 89,296,430 (GRCm39)	D1871E	probably damaging	Het
Prdm6	T	A	18: 53,669,751 (GRCm39)	M123K	possibly damaging	Het
Ranbp17	T	C	11: 33,425,066 (GRCm39)	D430G	probably damaging	Het
Rsl24d1	C	A	9: 73,022,279 (GRCm39)	T287K	probably damaging	Het
Scn1a	G	A	2: 66,168,304 (GRCm39)	R101W	probably damaging	Het
Scn8a	A	G	15: 100,937,977 (GRCm39)	D1741G	probably damaging	Het
Serpinb1c	T	C	13: 33,080,924 (GRCm39)	Q53R	probably benign	Het
Serpinf2	C	T	11: 75,323,269 (GRCm39)	R479H	probably damaging	Het
Sis	T	A	3: 72,856,860 (GRCm39)	D448V	probably damaging	Het
Slc27a6	T	A	18: 58,712,947 (GRCm39)	D256E	probably benign	Het
Slc30a8	A	G	15: 52,194,970 (GRCm39)	Y243C	possibly damaging	Het
Slc35f5	T	C	1: 125,490,347 (GRCm39)	V103A	probably damaging	Het
Slc44a2	T	C	9: 21,232,149 (GRCm39)		probably null	Het
Slc7a9	T	C	7: 35,159,274 (GRCm39)	L327P	probably damaging	Het
Stat4	A	G	1: 52,142,133 (GRCm39)	Y660C	probably damaging	Het
Terb1	T	C	8: 105,199,388 (GRCm39)	T519A	possibly damaging	Het
Tonsl	A	T	15: 76,513,500 (GRCm39)	S1245T	probably damaging	Het
Ttn	A	T	2: 76,619,162 (GRCm39)	S16072R	probably damaging	Het
Ttn	A	T	2: 76,739,590 (GRCm39)	Y3650N	probably benign	Het
Uso1	T	C	5: 92,314,444 (GRCm39)	F117S	probably damaging	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r67	G	A	7: 84,802,023 (GRCm39)	P93S	probably damaging	Het
Xirp2	A	T	2: 67,346,569 (GRCm39)	I2937F	possibly damaging	Het
Zc2hc1c	C	A	12: 85,336,446 (GRCm39)		probably null	Het
Zfp12	T	C	5: 143,230,219 (GRCm39)	V182A	probably benign	Het
Zfp473	G	T	7: 44,382,218 (GRCm39)	A705D	possibly damaging	Het
Zfp937	G	T	2: 150,081,136 (GRCm39)	G389C	probably damaging	Het
Zfp990	A	G	4: 145,264,748 (GRCm39)	D582G	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
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
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'- TGGTGCAATCCAGAAAGCAC -3'
(R):5'- GCCAGTGGTCCGTGTTAATG -3'

Sequencing Primer
(F):5'- AATTGGCTCTGCATAGGGAC -3'
(R):5'- CCGTGTTAATGGTGCTGCG -3'

Posted On

2018-07-24