Mutagenetix > Incidental Mutation

Incidental Mutation 'R6957:Ddx20'

541495

Institutional Source

Beutler Lab

Gene Symbol

Ddx20

Ensembl Gene

ENSMUSG00000027905

Gene Name

DEAD box helicase 20

Synonyms

DEAD (Asp-Glu-Ala-Asp) box polypeptide 20, GEMIN3, dp103

MMRRC Submission

045068-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6957 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105585586-105594890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 105591626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 181 (K181N)

Ref Sequence

ENSEMBL: ENSMUSP00000088176 (fasta)

Gene Model

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

AlphaFold

Q9JJY4

Predicted Effect

probably benign
Transcript: ENSMUST00000090680
AA Change: K181N

PolyPhen 2 Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: K181N

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

Coding Region Coverage

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

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 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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310009B15Rik	A	G	1: 138,779,857 (GRCm39)	S132P	probably damaging	Het
Abcb5	A	G	12: 118,871,270 (GRCm39)	F710L	probably damaging	Het
Acsm4	T	G	7: 119,310,622 (GRCm39)	V503G	probably damaging	Het
Adam26a	T	A	8: 44,021,940 (GRCm39)	M517L	probably benign	Het
Adcy10	C	A	1: 165,391,854 (GRCm39)	L1345I	probably damaging	Het
Adgrv1	T	C	13: 81,715,609 (GRCm39)	I860V	probably benign	Het
Alcam	T	C	16: 52,097,257 (GRCm39)	D333G	probably damaging	Het
Amt	C	A	9: 108,177,032 (GRCm39)	F213L	possibly damaging	Het
Ascc3	A	G	10: 50,604,278 (GRCm39)	T1333A	probably damaging	Het
Asxl3	C	A	18: 22,655,148 (GRCm39)	L1053I	probably damaging	Het
Atxn10	T	C	15: 85,220,699 (GRCm39)	S12P	probably damaging	Het
AU021092	T	C	16: 5,030,017 (GRCm39)	I333V	probably benign	Het
Birc6	A	G	17: 74,886,486 (GRCm39)	I577V	probably benign	Het
Cadm2	A	T	16: 66,609,726 (GRCm39)	F132I	probably benign	Het
Casp3	T	A	8: 47,087,308 (GRCm39)	V85D	probably damaging	Het
Ccdc168	C	T	1: 44,096,367 (GRCm39)	C1577Y	probably benign	Het
Ccdc85a	A	T	11: 28,342,944 (GRCm39)		probably benign	Het
Cd22	T	C	7: 30,566,999 (GRCm39)	R760G	possibly damaging	Het
Cela3a	A	T	4: 137,135,441 (GRCm39)	W41R	probably damaging	Het
Cep164	A	G	9: 45,683,578 (GRCm39)		probably null	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Dnah14	G	C	1: 181,612,740 (GRCm39)	A3846P	possibly damaging	Het
Ern1	A	C	11: 106,294,365 (GRCm39)	I813S	probably damaging	Het
Fam181a	G	A	12: 103,282,773 (GRCm39)	G226D	probably damaging	Het
Fam186a	T	A	15: 99,844,357 (GRCm39)	D629V	unknown	Het
Gipr	T	A	7: 18,898,529 (GRCm39)	T26S	probably benign	Het
Gm3159	A	G	14: 4,398,530 (GRCm38)	R74G	possibly damaging	Het
Greb1l	G	A	18: 10,558,786 (GRCm39)	V1814I	probably benign	Het
Hacd1	A	T	2: 14,049,664 (GRCm39)	V98E	probably damaging	Het
Iars1	T	G	13: 49,875,637 (GRCm39)	F775V	probably damaging	Het
Il12rb2	G	A	6: 67,269,636 (GRCm39)	L726F	possibly damaging	Het
Itih4	T	C	14: 30,614,560 (GRCm39)	V474A	probably damaging	Het
Kmt2a	A	C	9: 44,731,319 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,904,810 (GRCm39)	L196*	probably null	Het
Lipo4	A	G	19: 33,476,767 (GRCm39)	V327A	probably benign	Het
Lratd2	T	C	15: 60,694,934 (GRCm39)	T271A	probably benign	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp4	C	A	2: 91,317,387 (GRCm39)	T837K	probably damaging	Het
Mad1l1	G	T	5: 140,051,572 (GRCm39)	F664L	probably damaging	Het
Mecr	A	G	4: 131,589,172 (GRCm39)	T247A	probably benign	Het
Msi1	G	A	5: 115,583,483 (GRCm39)	A228T	probably benign	Het
Mup5	T	A	4: 61,751,273 (GRCm39)	N125I	probably damaging	Het
Mybl2	C	T	2: 162,914,728 (GRCm39)	S282F	possibly damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nalcn	T	C	14: 123,744,966 (GRCm39)	D354G	probably damaging	Het
Nckap1l	T	C	15: 103,399,938 (GRCm39)	V1040A	possibly damaging	Het
Nlrp12	T	A	7: 3,271,160 (GRCm39)	D1051V	probably damaging	Het
Nudt7	A	G	8: 114,860,385 (GRCm39)	K16R	probably benign	Het
Or4b1	G	T	2: 89,979,494 (GRCm39)	Y285*	probably null	Het
Or8g29-ps1	A	G	9: 39,200,577 (GRCm39)	V203A	unknown	Het
Paqr3	A	T	5: 97,256,110 (GRCm39)	I88K	possibly damaging	Het
Parp9	A	G	16: 35,768,716 (GRCm39)	M299V	probably benign	Het
Pde4dip	A	T	3: 97,731,649 (GRCm39)		probably null	Het
Pex13	T	G	11: 23,605,628 (GRCm39)	M201L	probably benign	Het
Pfas	C	A	11: 68,884,709 (GRCm39)	V498L	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Plec	T	A	15: 76,070,414 (GRCm39)	D932V	probably damaging	Het
Qng1	C	A	13: 58,529,775 (GRCm39)	C279F	probably damaging	Het
Qsox2	C	T	2: 26,107,654 (GRCm39)	A445T	probably benign	Het
Rapgef1	C	A	2: 29,623,710 (GRCm39)	Q820K	possibly damaging	Het
Samd13	A	G	3: 146,368,424 (GRCm39)		probably null	Het
Samm50	G	T	15: 84,082,850 (GRCm39)	D104Y	probably damaging	Het
Sbk3	A	T	7: 4,970,522 (GRCm39)	F282L	probably benign	Het
Sfmbt1	C	T	14: 30,509,546 (GRCm39)	H342Y	probably benign	Het
Sgo2b	CCATCATCATCATCATCATCAT	CCATCATCATCATCATCAT	8: 64,384,489 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,043,344 (GRCm39)	L596*	probably null	Het
Spata31h1	A	T	10: 82,129,620 (GRCm39)	I1130K	probably benign	Het
St8sia3	T	C	18: 64,404,853 (GRCm39)	S377P	probably benign	Het
Stmnd1	T	G	13: 46,427,375 (GRCm39)	S28A	probably benign	Het
Syne3	A	T	12: 104,920,561 (GRCm39)	L458Q	probably damaging	Het
Synm	C	T	7: 67,385,848 (GRCm39)	V163I	probably benign	Het
Tbc1d23	A	G	16: 57,028,686 (GRCm39)	C161R	probably damaging	Het
Tnfrsf4	G	A	4: 156,100,625 (GRCm39)	V215I	probably benign	Het
Vars2	T	G	17: 35,977,967 (GRCm39)	K67Q	probably benign	Het
Vmn2r13	A	T	5: 109,304,753 (GRCm39)	Y559*	probably null	Het
Wdpcp	T	C	11: 21,671,154 (GRCm39)	I465T	possibly damaging	Het
Zwilch	A	C	9: 64,069,844 (GRCm39)		probably null	Het

Other mutations in Ddx20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Ddx20	APN	3	105,593,986 (GRCm39)	missense	probably damaging	1.00
IGL01832:Ddx20	APN	3	105,586,327 (GRCm39)	missense	probably damaging	0.99
IGL02072:Ddx20	APN	3	105,587,943 (GRCm39)	missense	probably damaging	1.00
IGL02821:Ddx20	APN	3	105,586,593 (GRCm39)	missense	probably benign	0.00
R0520:Ddx20	UTSW	3	105,594,692 (GRCm39)	missense	probably benign
R0600:Ddx20	UTSW	3	105,586,396 (GRCm39)	missense	probably damaging	1.00
R1648:Ddx20	UTSW	3	105,586,504 (GRCm39)	missense	probably benign	0.08
R1817:Ddx20	UTSW	3	105,585,896 (GRCm39)	nonsense	probably null
R1843:Ddx20	UTSW	3	105,586,398 (GRCm39)	missense	probably benign	0.00
R1922:Ddx20	UTSW	3	105,585,900 (GRCm39)	missense	probably damaging	1.00
R1955:Ddx20	UTSW	3	105,586,878 (GRCm39)	missense	possibly damaging	0.79
R1993:Ddx20	UTSW	3	105,586,660 (GRCm39)	nonsense	probably null
R2215:Ddx20	UTSW	3	105,587,656 (GRCm39)	splice site	probably benign
R2241:Ddx20	UTSW	3	105,590,521 (GRCm39)	nonsense	probably null
R2315:Ddx20	UTSW	3	105,586,015 (GRCm39)	missense	probably damaging	1.00
R4156:Ddx20	UTSW	3	105,586,249 (GRCm39)	missense	probably benign	0.41
R4790:Ddx20	UTSW	3	105,590,485 (GRCm39)	missense	probably benign	0.02
R4962:Ddx20	UTSW	3	105,587,921 (GRCm39)	missense	possibly damaging	0.95
R5072:Ddx20	UTSW	3	105,590,191 (GRCm39)	critical splice donor site	probably null
R5361:Ddx20	UTSW	3	105,590,825 (GRCm39)	missense	probably damaging	0.96
R5622:Ddx20	UTSW	3	105,586,327 (GRCm39)	missense	probably damaging	0.99
R5936:Ddx20	UTSW	3	105,587,903 (GRCm39)	missense	possibly damaging	0.96
R6007:Ddx20	UTSW	3	105,590,736 (GRCm39)	missense	possibly damaging	0.68
R6192:Ddx20	UTSW	3	105,586,036 (GRCm39)	missense	probably benign
R6916:Ddx20	UTSW	3	105,587,929 (GRCm39)	missense	probably damaging	1.00
R6970:Ddx20	UTSW	3	105,587,674 (GRCm39)	missense	probably damaging	1.00
R8366:Ddx20	UTSW	3	105,594,695 (GRCm39)	missense	probably benign	0.37
R9176:Ddx20	UTSW	3	105,586,158 (GRCm39)	missense	probably benign	0.01
R9221:Ddx20	UTSW	3	105,587,685 (GRCm39)	nonsense	probably null
R9326:Ddx20	UTSW	3	105,591,735 (GRCm39)	missense	probably damaging	1.00
R9336:Ddx20	UTSW	3	105,585,903 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GGGTATTCTCCAACACTCTTCAG -3'
(R):5'- CCTCTGACTTGTTAGAATGTTTTGC -3'

Sequencing Primer
(F):5'- GATTCTGTTGAAAACCCAGCCATG -3'
(R):5'- CTCGGTTATCACAGCCAT -3'

Posted On

2018-11-28