Mutagenetix > Incidental Mutations

Incidental Mutation 'R6916:Ddx20'

539335

Institutional Source

Beutler Lab

Gene Symbol

Ddx20

Ensembl Gene

ENSMUSG00000027905

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20

Synonyms

GEMIN3, dp103

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6916 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105678270-105687574 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105680613 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 384 (N384D)

Ref Sequence

ENSEMBL: ENSMUSP00000088176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090680] [ENSMUST00000200078]

Predicted Effect

probably damaging
Transcript: ENSMUST00000090680
AA Change: N384D

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

SMART Domains

Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: N384D

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
DEXDc	82	280	7.47e-44	SMART
HELICc	324	405	2.8e-25	SMART
low complexity region	434	445	N/A	INTRINSIC
low complexity region	646	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200078

SMART Domains

Protein: ENSMUSP00000142675
Gene: ENSMUSG00000027905

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
Pfam:DEAD	87	134	7.6e-5	PFAM

Meta Mutation Damage Score

0.9319

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (59/60)

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 has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	A	6: 48,931,053	I329N	probably benign	Het
2700049A03Rik	T	A	12: 71,164,544	I684K	possibly damaging	Het
Abcg3	T	A	5: 104,974,735	R97S	probably benign	Het
Acin1	A	T	14: 54,665,416	F160L	probably benign	Het
Asb10	T	C	5: 24,537,856	D293G	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,581	S117P	probably benign	Het
Bahcc1	T	A	11: 120,273,009	V711E	probably damaging	Het
Baz2b	A	T	2: 59,968,776	S335T	probably benign	Het
Bdkrb2	C	T	12: 105,591,779	A93V	probably damaging	Het
Cacna1d	A	T	14: 30,095,364	V1247D	probably damaging	Het
Cenpb	A	C	2: 131,179,624	F85V	probably benign	Het
Cep112	C	A	11: 108,859,376	Q142K	probably damaging	Het
Ciita	T	A	16: 10,509,207		probably null	Het
Cnr1	A	G	4: 33,943,897	D95G	probably benign	Het
Ctnnd1	A	T	2: 84,609,646	D767E	probably benign	Het
Dnaaf3	T	A	7: 4,527,533	D191V	probably damaging	Het
Efna1	T	C	3: 89,276,388	N44D	possibly damaging	Het
Errfi1	A	T	4: 150,867,473	K453*	probably null	Het
Fam149a	C	A	8: 45,350,406	K349N	probably damaging	Het
Fbxl20	T	A	11: 98,113,253	I70L	possibly damaging	Het
Flnb	C	T	14: 7,907,171	T1248I	probably damaging	Het
Frem2	T	C	3: 53,547,688	R2156G	probably damaging	Het
Ftl1	T	C	7: 45,459,540	Y31C	probably damaging	Het
Gm5862	G	T	5: 26,019,348	H208N	probably benign	Het
Hc	A	T	2: 35,010,032	Y1096*	probably null	Het
Hps1	ATCCTCCTCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	19: 42,766,725			Het
Ints3	T	C	3: 90,406,334	D329G	probably damaging	Het
Irak3	A	T	10: 120,201,365	L32Q	probably damaging	Het
Kif1bp	T	C	10: 62,566,064	T20A	probably benign	Het
Klrb1f	A	T	6: 129,053,811	D95V	probably benign	Het
Krt79	C	T	15: 101,936,170	D260N	probably benign	Het
Lrp11	C	A	10: 7,608,714		probably null	Het
Lrrc10	C	A	10: 117,045,549	R43S	possibly damaging	Het
Muc5b	A	T	7: 141,864,717	Y3800F	possibly damaging	Het
Myh14	T	C	7: 44,629,313	K1003E	probably damaging	Het
Nbeal2	A	G	9: 110,626,108	I2567T	probably damaging	Het
Necab2	G	T	8: 119,467,616	R277L	probably damaging	Het
Nell1	T	C	7: 50,701,179	Y525H	probably benign	Het
Olfm4	T	A	14: 80,014,198	M186K	probably damaging	Het
Olfr389	T	A	11: 73,777,069	Q86L	probably benign	Het
Olfr753-ps1	T	C	17: 37,169,973	K225R	probably benign	Het
Olfr934	T	C	9: 38,982,904	I47V	probably benign	Het
Pcdhb11	A	T	18: 37,422,381	S255C	possibly damaging	Het
Rrbp1	A	T	2: 143,974,598	C704S	probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Sh2d3c	C	T	2: 32,752,653	R552*	probably null	Het
Sh3d19	A	G	3: 86,084,911	E82G	probably benign	Het
Son	T	A	16: 91,654,785	L140Q	probably damaging	Het
Svil	G	A	18: 5,114,682		probably benign	Het
Syne1	T	C	10: 5,227,912	K4854R	probably benign	Het
Tmem202	C	A	9: 59,525,474		probably benign	Het
Tmem56	T	C	3: 121,207,156	D276G	possibly damaging	Het
Trak2	T	C	1: 58,910,025	T539A	probably benign	Het
Trdn	T	C	10: 33,157,018	S80P	probably damaging	Het
Ugt2b37	T	A	5: 87,254,600	R57S	probably benign	Het
Usp34	G	A	11: 23,458,023	R2616Q	probably damaging	Het
Usp48	T	C	4: 137,638,233	Y113H	probably damaging	Het
Vtcn1	G	T	3: 100,888,163		probably null	Het
Wdr19	G	A	5: 65,225,334	R467Q	possibly damaging	Het
Wdr72	A	G	9: 74,155,039	Y489C	probably benign	Het
Wipf1	C	A	2: 73,437,404	G217W	probably damaging	Het

Other mutations in Ddx20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Ddx20	APN	3	105686670	missense	probably damaging	1.00
IGL01832:Ddx20	APN	3	105679011	missense	probably damaging	0.99
IGL02072:Ddx20	APN	3	105680627	missense	probably damaging	1.00
IGL02821:Ddx20	APN	3	105679277	missense	probably benign	0.00
R0520:Ddx20	UTSW	3	105687376	missense	probably benign
R0600:Ddx20	UTSW	3	105679080	missense	probably damaging	1.00
R1648:Ddx20	UTSW	3	105679188	missense	probably benign	0.08
R1817:Ddx20	UTSW	3	105678580	nonsense	probably null
R1843:Ddx20	UTSW	3	105679082	missense	probably benign	0.00
R1922:Ddx20	UTSW	3	105678584	missense	probably damaging	1.00
R1955:Ddx20	UTSW	3	105679562	missense	possibly damaging	0.79
R1993:Ddx20	UTSW	3	105679344	nonsense	probably null
R2215:Ddx20	UTSW	3	105680340	splice site	probably benign
R2241:Ddx20	UTSW	3	105683205	nonsense	probably null
R2315:Ddx20	UTSW	3	105678699	missense	probably damaging	1.00
R4156:Ddx20	UTSW	3	105678933	missense	probably benign	0.41
R4790:Ddx20	UTSW	3	105683169	missense	probably benign	0.02
R4962:Ddx20	UTSW	3	105680605	missense	possibly damaging	0.95
R5072:Ddx20	UTSW	3	105682875	critical splice donor site	probably null
R5361:Ddx20	UTSW	3	105683509	missense	probably damaging	0.96
R5622:Ddx20	UTSW	3	105679011	missense	probably damaging	0.99
R5936:Ddx20	UTSW	3	105680587	missense	possibly damaging	0.96
R6007:Ddx20	UTSW	3	105683420	missense	possibly damaging	0.68
R6192:Ddx20	UTSW	3	105678720	missense	probably benign
R6957:Ddx20	UTSW	3	105684310	missense	probably benign	0.30
R6970:Ddx20	UTSW	3	105680358	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCAGTCCCAATGTACCTAAG -3'
(R):5'- TTCTAGTTCTGGGAAAAGTGCTTTC -3'

Sequencing Primer
(F):5'- TCAGTCCCAATGTACCTAAGAGTAAG -3'
(R):5'- CATTTGCTTTGAAATAGGTTTAGTCC -3'

Posted On

2018-11-06