Mutagenetix > Incidental Mutation

Incidental Mutation 'R1922:Ddx20'

213128

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

039940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1922 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105585586-105594890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105585900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 815 (V815D)

Ref Sequence

ENSEMBL: ENSMUSP00000088176 (fasta)

Gene Model

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

AlphaFold

Q9JJY4

Predicted Effect

probably damaging
Transcript: ENSMUST00000090680
AA Change: V815D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: V815D

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

noncoding transcript
Transcript: ENSMUST00000132008

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: 97.5%
3x: 97.1%
10x: 95.8%
20x: 93.7%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,359,083 (GRCm39)	N574K	probably benign	Het
Adcy9	A	T	16: 4,129,521 (GRCm39)	L455H	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Amy1	T	A	3: 113,358,544 (GRCm39)	I163F	probably damaging	Het
Aoc1l2	A	C	6: 48,908,220 (GRCm39)	I407L	probably benign	Het
Armc5	A	G	7: 127,839,677 (GRCm39)	S332G	probably benign	Het
Brd4	T	C	17: 32,417,060 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Chrna1	A	G	2: 73,398,576 (GRCm39)	S288P	probably damaging	Het
Cpe	T	A	8: 65,070,723 (GRCm39)	D174V	probably benign	Het
Dclre1c	T	C	2: 3,441,819 (GRCm39)	F235L	possibly damaging	Het
Dhx9	T	C	1: 153,336,020 (GRCm39)		probably null	Het
Dmxl2	A	C	9: 54,308,807 (GRCm39)	H1981Q	probably benign	Het
Doc2a	A	C	7: 126,450,603 (GRCm39)	D293A	probably damaging	Het
Eif2a	C	T	3: 58,455,951 (GRCm39)	R317C	probably damaging	Het
Fancc	A	G	13: 63,478,381 (GRCm39)	V318A	possibly damaging	Het
Fes	A	T	7: 80,033,734 (GRCm39)	Y172*	probably null	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Glul	G	A	1: 153,783,070 (GRCm39)	M214I	probably benign	Het
Gm14496	A	G	2: 181,642,797 (GRCm39)	I823V	probably benign	Het
Gm6665	T	C	18: 31,953,318 (GRCm39)	N50S	probably benign	Het
Gm6729	T	C	10: 86,376,782 (GRCm39)		noncoding transcript	Het
Gpr21	T	A	2: 37,408,350 (GRCm39)	C299S	probably damaging	Het
Hapln2	T	A	3: 87,930,684 (GRCm39)	N196Y	probably benign	Het
Hsd17b12	A	G	2: 93,875,737 (GRCm39)	V196A	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Kansl1	A	T	11: 104,234,466 (GRCm39)	L680Q	probably damaging	Het
Kcna3	T	C	3: 106,945,251 (GRCm39)	S505P	possibly damaging	Het
Klra1	A	C	6: 130,349,828 (GRCm39)	N203K	probably benign	Het
L3mbtl2	T	A	15: 81,559,822 (GRCm39)	I236N	probably damaging	Het
Mcm3ap	C	A	10: 76,343,195 (GRCm39)	P1696T	probably damaging	Het
Mecom	T	C	3: 30,011,591 (GRCm39)	D647G	probably damaging	Het
Mn1	A	G	5: 111,566,612 (GRCm39)	D194G	probably damaging	Het
Muc5ac	A	G	7: 141,347,426 (GRCm39)	N407S	probably benign	Het
Mx2	C	T	16: 97,361,551 (GRCm39)	R584C	probably benign	Het
Myo1c	A	G	11: 75,559,055 (GRCm39)	R597G	probably benign	Het
Nav3	T	C	10: 109,541,467 (GRCm39)	D1932G	probably benign	Het
Nwd2	T	A	5: 63,951,585 (GRCm39)	D205E	probably benign	Het
Obi1	T	C	14: 104,716,622 (GRCm39)	K584E	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Osmr	T	C	15: 6,873,848 (GRCm39)	E183G	possibly damaging	Het
Peak1	A	T	9: 56,113,971 (GRCm39)	W627R	probably damaging	Het
Pkd1	C	A	17: 24,814,131 (GRCm39)	P4167Q	probably damaging	Het
Plekhg4	T	A	8: 106,105,017 (GRCm39)	L560Q	probably damaging	Het
Prg4	C	T	1: 150,325,750 (GRCm39)	W1217*	probably null	Het
Prkdc	A	G	16: 15,532,130 (GRCm39)	I1465V	probably benign	Het
Pus1	A	G	5: 110,925,505 (GRCm39)	F105S	probably damaging	Het
Ranbp3l	T	C	15: 9,057,206 (GRCm39)	S154P	probably damaging	Het
Rhbdl1	C	T	17: 26,054,513 (GRCm39)	G211S	probably damaging	Het
Rrp36	C	T	17: 46,983,671 (GRCm39)	R47Q	possibly damaging	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Sash1	T	A	10: 8,603,672 (GRCm39)	N1127Y	possibly damaging	Het
Setbp1	C	T	18: 78,901,577 (GRCm39)	E697K	possibly damaging	Het
Slc27a3	A	T	3: 90,293,624 (GRCm39)	V587E	probably benign	Het
Slc38a2	A	G	15: 96,589,043 (GRCm39)	F454L	possibly damaging	Het
Sprn	A	T	7: 139,733,458 (GRCm39)		probably benign	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tbc1d1	A	G	5: 64,468,564 (GRCm39)	E732G	probably damaging	Het
Tnfaip3	A	G	10: 18,879,355 (GRCm39)	F671S	possibly damaging	Het
Tor1aip2	C	A	1: 155,940,540 (GRCm39)	P282Q	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Ttll2	A	T	17: 7,619,789 (GRCm39)	F46Y	probably damaging	Het
Ttn	A	G	2: 76,564,494 (GRCm39)	S28548P	probably damaging	Het
Tubb5	T	C	17: 36,146,190 (GRCm39)	Y340C	probably benign	Het
Usp32	A	T	11: 84,897,830 (GRCm39)	C1170*	probably null	Het
Usp54	G	T	14: 20,610,972 (GRCm39)	H1281Q	probably benign	Het
Vgll4	C	T	6: 114,898,296 (GRCm39)	G22S	probably benign	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Zdhhc5	A	T	2: 84,523,771 (GRCm39)	F225Y	probably damaging	Het
Zfp652	A	G	11: 95,654,851 (GRCm39)	E418G	possibly damaging	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
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

Predicted Primers

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

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

Posted On

2014-07-14