Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Ddx20'

707122

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105585586-105594890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 105585903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 814 (T814R)

Ref Sequence

ENSEMBL: ENSMUSP00000088176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090680] [ENSMUST00000098761] [ENSMUST00000200078]

AlphaFold

Q9JJY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090680
AA Change: T814R

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: T814R

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: ENSMUST00000098761

SMART Domains

Protein: ENSMUSP00000096357
Gene: ENSMUSG00000040896

Domain	Start	End	E-Value	Type
Pfam:Shal-type	3	31	7.3e-19	PFAM
BTB	40	139	1.76e-16	SMART
transmembrane domain	180	202	N/A	INTRINSIC
Pfam:Ion_trans	228	402	1e-31	PFAM
Pfam:Ion_trans_2	327	408	8.4e-15	PFAM
low complexity region	412	431	N/A	INTRINSIC
Pfam:DUF3399	442	545	9.5e-52	PFAM
low complexity region	591	606	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: 100.0%
10x: 99.8%
20x: 99.3%

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 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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 148,029,490 (GRCm39)	R487C	probably benign	Het
2900026A02Rik	A	T	5: 113,240,966 (GRCm39)		probably null	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,240,264 (GRCm39)	V675A	probably benign	Het
Ank3	A	T	10: 69,809,578 (GRCm39)	T1120S	probably benign	Het
Armh3	A	T	19: 45,945,120 (GRCm39)	M277K	probably damaging	Het
Babam2	A	T	5: 31,859,194 (GRCm39)	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,168,786 (GRCm39)	Q261*	probably null	Het
Cdc27	A	T	11: 104,396,496 (GRCm39)	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494 (GRCm39)	V324I	probably benign	Het
Cfap44	T	C	16: 44,242,807 (GRCm39)	I737T	probably damaging	Het
Chrm3	A	T	13: 9,928,652 (GRCm39)	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,554,189 (GRCm39)	S743T	probably benign	Het
Ddias	A	G	7: 92,507,314 (GRCm39)	V867A	possibly damaging	Het
Dgka	A	T	10: 128,566,935 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,761,775 (GRCm39)	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,657,742 (GRCm39)	Q271K	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
E2f3	G	A	13: 30,095,239 (GRCm39)	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,324,027 (GRCm39)	D457N	probably damaging	Het
Erbb3	T	C	10: 128,420,929 (GRCm39)	T125A	probably benign	Het
Etv5	A	C	16: 22,254,627 (GRCm39)	C78G	probably benign	Het
Frrs1	G	A	3: 116,684,582 (GRCm39)	R263H	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hivep3	A	T	4: 119,952,400 (GRCm39)	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,510,394 (GRCm39)	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,535,814 (GRCm39)		probably null	Het
Igkv1-88	T	A	6: 68,839,313 (GRCm39)	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,614,165 (GRCm39)	N185S	probably benign	Het
Kmt2d	A	C	15: 98,743,697 (GRCm39)	L3821R	unknown	Het
Krtap22-2	T	G	16: 88,807,478 (GRCm39)	Y40S	unknown	Het
Lrrc1	A	G	9: 77,349,480 (GRCm39)	V362A	probably damaging	Het
Malsu1	T	A	6: 49,061,449 (GRCm39)	I171N	probably damaging	Het
Mark1	C	T	1: 184,648,345 (GRCm39)	G314S	possibly damaging	Het
Mib2	T	C	4: 155,743,394 (GRCm39)	N135S	probably benign	Het
Mos	A	T	4: 3,870,886 (GRCm39)	L310Q	probably damaging	Het
Muc4	C	T	16: 32,569,756 (GRCm39)	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,771,064 (GRCm39)	T1654A		Het
Napsa	G	T	7: 44,231,769 (GRCm39)	G153W	probably damaging	Het
Nos3	A	C	5: 24,584,761 (GRCm39)	I722L	probably benign	Het
Or10z1	A	T	1: 174,077,679 (GRCm39)	D271E	probably damaging	Het
Or1p1c	A	T	11: 74,160,743 (GRCm39)	D176V	probably damaging	Het
Or51h1	A	T	7: 102,308,199 (GRCm39)	H57L	probably damaging	Het
Or5b104	A	T	19: 13,072,513 (GRCm39)	S166R	probably benign	Het
P4ha2	T	A	11: 54,002,390 (GRCm39)	D109E	possibly damaging	Het
Pappa	G	T	4: 65,042,918 (GRCm39)	C47F	unknown	Het
Pbx3	T	A	2: 34,261,832 (GRCm39)	H34L	probably benign	Het
Pcca	A	G	14: 122,887,738 (GRCm39)	T234A	probably benign	Het
Pcdha11	C	T	18: 37,144,514 (GRCm39)	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,795,251 (GRCm39)	V85G	probably damaging	Het
Pclo	A	G	5: 14,726,562 (GRCm39)	I1807V	unknown	Het
Pgm3	A	T	9: 86,437,413 (GRCm39)	F528Y	probably benign	Het
Pigz	T	C	16: 31,763,694 (GRCm39)	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,821,161 (GRCm39)	Q687H		Het
Pja2	A	T	17: 64,590,432 (GRCm39)	N700K	unknown	Het
Pkd2l2	T	C	18: 34,561,158 (GRCm39)	F389L	probably damaging	Het
Plcz1	T	A	6: 139,985,446 (GRCm39)	T32S	possibly damaging	Het
Pola2	A	G	19: 5,991,029 (GRCm39)	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,015,919 (GRCm39)	C541G	probably benign	Het
Prr15l	A	T	11: 96,825,599 (GRCm39)	K76N	probably damaging	Het
Psg28	C	A	7: 18,156,905 (GRCm39)	K443N	possibly damaging	Het
Ptch2	G	T	4: 116,954,197 (GRCm39)	A76S	probably damaging	Het
Ptch2	A	G	4: 116,966,776 (GRCm39)	D553G	possibly damaging	Het
Ptprz1	T	C	6: 23,000,855 (GRCm39)	S982P	probably benign	Het
Rnd3	T	C	2: 51,038,844 (GRCm39)	I15V	probably benign	Het
Rtn3	T	C	19: 7,460,328 (GRCm39)	K41E	unknown	Het
Sap25	T	C	5: 137,639,985 (GRCm39)	S30P	probably benign	Het
Scfd2	A	T	5: 74,692,006 (GRCm39)	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108 (GRCm39)	Y106C	probably damaging	Het
Sell	T	C	1: 163,893,177 (GRCm39)	I131T	probably damaging	Het
Sesn3	T	A	9: 14,225,850 (GRCm39)	V195D	probably damaging	Het
Setdb2	A	G	14: 59,660,816 (GRCm39)	V109A	unknown	Het
Skint2	T	C	4: 112,483,054 (GRCm39)	I153T	probably benign	Het
Slc22a1	A	G	17: 12,886,142 (GRCm39)	S164P	probably damaging	Het
Sowahc	G	A	10: 59,058,305 (GRCm39)	G147D	probably benign	Het
Strip2	G	C	6: 29,931,824 (GRCm39)	G456R	probably benign	Het
Synpo	G	T	18: 60,735,472 (GRCm39)	R825S	probably damaging	Het
Tango6	A	G	8: 107,415,701 (GRCm39)	D174G	probably benign	Het
Tas1r2	T	C	4: 139,389,316 (GRCm39)	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,411,877 (GRCm39)	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,044,866 (GRCm39)	F512S	probably damaging	Het
Tenm3	A	T	8: 48,870,115 (GRCm39)	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368 (GRCm39)	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,730,787 (GRCm39)	M771K	probably benign	Het
Trim29	T	C	9: 43,238,350 (GRCm39)	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,189,198 (GRCm39)	K144E	probably benign	Het
Ttc21b	A	G	2: 66,057,287 (GRCm39)	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,285,130 (GRCm39)	H269R	probably benign	Het
Utp20	A	G	10: 88,649,798 (GRCm39)	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,832,201 (GRCm39)	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,117,292 (GRCm39)	V680A	probably damaging	Het
Wee1	G	A	7: 109,721,689 (GRCm39)	G45S	probably damaging	Het
Zfp1006	A	T	8: 129,944,149 (GRCm39)	D91E	unknown	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CAGCCTACATGAAGTGGCAC -3'
(R):5'- TGTCACAGGGAAACAACTGC -3'

Sequencing Primer
(F):5'- CTACATGAAGTGGCACCTTGG -3'
(R):5'- CAGGGAAACAACTGCAAGTTTTTCTG -3'

Posted On

2022-04-18