Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Ddx20'

91415

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx20

Ensembl Gene

ENSMUSG00000027905

Gene Name

DEAD box helicase 20

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

105585586-105594890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105593986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 123 (D123G)

Ref Sequence

ENSEMBL: ENSMUSP00000088176 (fasta)

Gene Model

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

AlphaFold

Q9JJY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000090680
AA Change: D123G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: D123G

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

noncoding transcript
Transcript: ENSMUST00000132008

Predicted Effect

probably damaging
Transcript: ENSMUST00000200078
AA Change: D123G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000142675
Gene: ENSMUSG00000027905
AA Change: D123G

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,126,753 (GRCm39)	M329K	possibly damaging	Het
Abce1	G	A	8: 80,420,076 (GRCm39)	T300M	probably damaging	Het
Acap1	G	A	11: 69,772,503 (GRCm39)	S536L	probably damaging	Het
Adcy5	C	A	16: 35,103,883 (GRCm39)		probably benign	Het
Ap2b1	G	T	11: 83,215,437 (GRCm39)	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,649,654 (GRCm39)	S548A	probably benign	Het
Atm	G	A	9: 53,395,547 (GRCm39)		probably benign	Het
Cep250	T	C	2: 155,818,069 (GRCm39)	V807A	probably damaging	Het
Ces1g	T	A	8: 94,033,587 (GRCm39)	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,070,512 (GRCm39)	Y241H	probably benign	Het
Col9a1	T	C	1: 24,224,225 (GRCm39)	S136P	unknown	Het
Cux2	C	A	5: 122,012,170 (GRCm39)	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,589,655 (GRCm39)	M53K	probably benign	Het
Dock4	T	A	12: 40,860,466 (GRCm39)	L1284*	probably null	Het
Dpp9	A	C	17: 56,518,666 (GRCm39)	L46R	probably benign	Het
Elavl1	A	T	8: 4,351,699 (GRCm39)	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,483,144 (GRCm39)	Y1018C	probably damaging	Het
Fubp1	A	G	3: 151,921,261 (GRCm39)	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,501,755 (GRCm39)		probably benign	Het
Gbx2	C	A	1: 89,856,559 (GRCm39)	R277L	probably damaging	Het
Gm128	T	C	3: 95,148,094 (GRCm39)	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,273,792 (GRCm39)	R469W	probably damaging	Het
Ifi30	G	A	8: 71,217,407 (GRCm39)		probably benign	Het
Kbtbd4	T	C	2: 90,736,252 (GRCm39)	S88P	probably damaging	Het
Kif23	A	T	9: 61,842,750 (GRCm39)	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,540,973 (GRCm39)	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,459,071 (GRCm39)	S161P	probably benign	Het
Lrcol1	T	A	5: 110,502,444 (GRCm39)	S107T	probably benign	Het
Lrrc28	A	T	7: 67,195,223 (GRCm39)		probably null	Het
Ncoa4	T	C	14: 31,894,884 (GRCm39)	V42A	probably benign	Het
Nkd2	C	T	13: 73,969,599 (GRCm39)	S277N	probably benign	Het
Nlrp2	A	T	7: 5,340,769 (GRCm39)	L15Q	probably damaging	Het
Nynrin	T	G	14: 56,107,968 (GRCm39)	L1025R	probably damaging	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or5w1	G	T	2: 87,486,757 (GRCm39)	C169*	probably null	Het
Piwil4	A	T	9: 14,645,783 (GRCm39)	F152I	probably damaging	Het
Plod3	T	C	5: 137,025,002 (GRCm39)	S705P	probably benign	Het
Ppp2r2c	T	A	5: 37,026,166 (GRCm39)	M1K	probably null	Het
Rgs19	T	C	2: 181,331,246 (GRCm39)	E129G	probably damaging	Het
Rpap2	T	A	5: 107,768,061 (GRCm39)	S223T	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc30a4	T	C	2: 122,527,137 (GRCm39)	I370V	probably benign	Het
Slco1b2	A	G	6: 141,609,398 (GRCm39)	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,485,793 (GRCm39)	Y142C	probably damaging	Het
Slco3a1	T	C	7: 73,934,198 (GRCm39)	N658S	probably benign	Het
Sos1	A	T	17: 80,741,329 (GRCm39)	S485R	probably benign	Het
Srpk1	A	G	17: 28,825,291 (GRCm39)	L127P	probably damaging	Het
St3gal6	T	A	16: 58,314,033 (GRCm39)		probably benign	Het
Stk4	T	A	2: 163,916,134 (GRCm39)	M1K	probably null	Het
Tbc1d12	A	G	19: 38,871,176 (GRCm39)	E313G	probably benign	Het
Tbk1	A	G	10: 121,393,134 (GRCm39)	I472T	probably benign	Het
Tiam1	G	A	16: 89,586,168 (GRCm39)	R849W	probably damaging	Het
Tle3	A	G	9: 61,317,307 (GRCm39)	T381A	probably benign	Het
Tmem82	T	G	4: 141,341,954 (GRCm39)	T337P	probably benign	Het
Tmprss15	T	C	16: 78,868,149 (GRCm39)	T220A	probably benign	Het
Ung	A	G	5: 114,275,369 (GRCm39)	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,571 (GRCm39)	M32K	probably benign	Het
Vps13d	T	G	4: 144,771,658 (GRCm39)	D956A	probably damaging	Het
Wdr64	T	A	1: 175,594,722 (GRCm39)		probably null	Het

Other mutations in Ddx20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6957:Ddx20	UTSW	3	105,591,626 (GRCm39)	missense	probably benign	0.30
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

Posted On

2013-12-09