Mutagenetix > Incidental Mutation

Incidental Mutation 'R1843:Ddx20'

207400

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

039868-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1843 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105678270-105687574 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105679082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 649 (Q649R)

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: Q649R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: Q649R

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 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: 96.9%
10x: 95.3%
20x: 92.4%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	C	T	8: 105,708,974 (GRCm38)	T88M	probably damaging	Het
9130011E15Rik	A	C	19: 45,975,252 (GRCm38)	S42R	probably benign	Het
9430038I01Rik	A	G	7: 137,377,066 (GRCm38)		probably benign	Het
Adgra3	A	C	5: 49,961,492 (GRCm38)	S905A	probably damaging	Het
Adgrv1	A	G	13: 81,544,533 (GRCm38)	Y1618H	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,314 (GRCm38)	T26A	probably benign	Het
Ankrd13d	T	C	19: 4,271,595 (GRCm38)	K360E	probably damaging	Het
Anks1b	T	A	10: 90,512,889 (GRCm38)		probably null	Het
Apob	T	C	12: 8,007,602 (GRCm38)	F2028S	possibly damaging	Het
Arap3	G	A	18: 37,975,583 (GRCm38)	R1265W	probably damaging	Het
Arhgef37	A	G	18: 61,518,050 (GRCm38)	Y135H	probably damaging	Het
Atp1a1	T	C	3: 101,582,017 (GRCm38)	T760A	probably benign	Het
Cdc42bpb	T	A	12: 111,322,821 (GRCm38)	M497L	probably benign	Het
Ces5a	C	T	8: 93,514,231 (GRCm38)	V413M	probably damaging	Het
Chd5	A	T	4: 152,385,806 (GRCm38)	Y1903F	probably damaging	Het
Chd9	T	A	8: 91,010,794 (GRCm38)	N1500K	probably benign	Het
Chmp7	G	T	14: 69,719,799 (GRCm38)	D303E	probably benign	Het
Chrnb4	A	T	9: 55,034,818 (GRCm38)	Y391N	possibly damaging	Het
Crtc1	T	C	8: 70,388,152 (GRCm38)	T475A	probably benign	Het
Cyp2c69	A	G	19: 39,877,528 (GRCm38)	I207T	probably benign	Het
Dcp1a	A	G	14: 30,518,983 (GRCm38)	E250G	probably damaging	Het
Defb12	T	A	8: 19,112,738 (GRCm38)	K59N	probably damaging	Het
Dpy19l3	A	T	7: 35,729,760 (GRCm38)	I85N	probably damaging	Het
Duox2	C	T	2: 122,292,258 (GRCm38)		probably null	Het
E430018J23Rik	A	C	7: 127,391,488 (GRCm38)	D442E	probably benign	Het
Ebi3	T	A	17: 55,956,679 (GRCm38)	Y197N	probably damaging	Het
Emc1	G	A	4: 139,375,512 (GRCm38)	R994Q	probably benign	Het
Ercc6	G	T	14: 32,546,820 (GRCm38)	M530I	probably damaging	Het
Evl	T	A	12: 108,652,996 (GRCm38)	D70E	probably damaging	Het
Fam35a	A	G	14: 34,267,803 (GRCm38)	I382T	probably benign	Het
Fbln2	A	G	6: 91,265,775 (GRCm38)	N819S	probably damaging	Het
Foxk2	A	G	11: 121,285,537 (GRCm38)	I170V	probably benign	Het
Gfm1	T	C	3: 67,435,610 (GRCm38)	V159A	probably damaging	Het
Gm10837	A	G	14: 122,490,765 (GRCm38)	T18A	unknown	Het
Gm12887	A	T	4: 121,622,030 (GRCm38)	V25E	probably damaging	Het
Hectd4	A	G	5: 121,297,180 (GRCm38)	H985R	possibly damaging	Het
Hsfy2	A	G	1: 56,636,632 (GRCm38)	Y249H	possibly damaging	Het
Hspg2	T	C	4: 137,545,567 (GRCm38)	V2639A	probably damaging	Het
Igf2r	A	G	17: 12,704,270 (GRCm38)		probably null	Het
Invs	T	A	4: 48,422,035 (GRCm38)	I889N	probably damaging	Het
Kcnq1	A	T	7: 143,183,120 (GRCm38)	M209L	probably benign	Het
Klra7	A	G	6: 130,229,994 (GRCm38)	I48T	possibly damaging	Het
Krt26	CTAGTA	CTA	11: 99,333,526 (GRCm38)		probably benign	Het
Lrif1	T	A	3: 106,732,811 (GRCm38)	V404D	probably damaging	Het
Lrriq1	T	A	10: 103,227,173 (GRCm38)		probably null	Het
Lypd6	T	A	2: 50,188,762 (GRCm38)	I90N	possibly damaging	Het
Mbp	A	G	18: 82,584,122 (GRCm38)	D174G	probably damaging	Het
Megf9	G	T	4: 70,534,785 (GRCm38)	P13Q	probably damaging	Het
Myo15b	A	T	11: 115,869,586 (GRCm38)	T1155S	probably benign	Het
Nlrp6	T	A	7: 140,923,093 (GRCm38)	C371S	probably damaging	Het
Nosip	T	A	7: 45,077,309 (GRCm38)		probably null	Het
Nox3	G	T	17: 3,669,878 (GRCm38)	P344H	probably damaging	Het
Nup210l	T	C	3: 90,172,086 (GRCm38)	V959A	probably damaging	Het
Olfr1360	C	A	13: 21,674,672 (GRCm38)	V91L	probably benign	Het
Olfr1475	A	G	19: 13,479,931 (GRCm38)	I89T	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,077 (GRCm38)	I211F	probably damaging	Het
Olfr267	T	C	4: 58,785,384 (GRCm38)	I113V	probably benign	Het
Olfr959	A	G	9: 39,572,735 (GRCm38)	Y175H	possibly damaging	Het
Osbpl3	A	C	6: 50,370,143 (GRCm38)	S25A	probably damaging	Het
Otog	G	A	7: 46,246,283 (GRCm38)	C107Y	probably damaging	Het
Pax7	G	A	4: 139,784,491 (GRCm38)	R260C	probably damaging	Het
Pbrm1	A	T	14: 31,038,957 (GRCm38)	I224F	probably damaging	Het
Pcdh1	T	A	18: 38,192,225 (GRCm38)		probably null	Het
Pcnx	T	C	12: 81,980,935 (GRCm38)	L1585P	probably damaging	Het
Pde4c	C	T	8: 70,747,950 (GRCm38)	H362Y	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pgm2	A	T	4: 99,961,478 (GRCm38)	Q90L	probably damaging	Het
Phlpp1	A	G	1: 106,343,505 (GRCm38)	H814R	probably benign	Het
Pknox2	A	T	9: 36,954,831 (GRCm38)	M5K	possibly damaging	Het
Pole	G	A	5: 110,330,835 (GRCm38)		probably null	Het
Polr1b	A	G	2: 129,102,966 (GRCm38)	I61V	probably benign	Het
Prelp	T	C	1: 133,914,757 (GRCm38)	K217E	probably damaging	Het
Prkce	C	T	17: 86,475,546 (GRCm38)	Q202*	probably null	Het
Psmd2	T	G	16: 20,656,582 (GRCm38)	M370R	probably benign	Het
Rimklb	A	T	6: 122,464,009 (GRCm38)	H68Q	probably damaging	Het
Rnasel	A	G	1: 153,754,674 (GRCm38)	D312G	possibly damaging	Het
Rxrg	A	T	1: 167,598,752 (GRCm38)	M1L	probably benign	Het
Scrn1	A	G	6: 54,522,841 (GRCm38)	F220L	possibly damaging	Het
Scyl3	A	G	1: 163,950,675 (GRCm38)	S461G	probably benign	Het
Serpina1c	T	A	12: 103,895,023 (GRCm38)	T411S	probably benign	Het
Serpinb6d	C	T	13: 33,671,381 (GRCm38)	P346L	probably benign	Het
Slc9a3r2	C	T	17: 24,641,719 (GRCm38)	S150N	possibly damaging	Het
Spg21	G	T	9: 65,465,336 (GRCm38)	V17F	probably damaging	Het
Spink5	A	T	18: 43,999,891 (GRCm38)	M525L	probably benign	Het
Sun2	T	C	15: 79,737,563 (GRCm38)	T155A	probably benign	Het
Tchh	T	A	3: 93,446,780 (GRCm38)	F1176I	unknown	Het
Tex15	T	A	8: 33,576,654 (GRCm38)	D2037E	probably benign	Het
Tfdp2	T	C	9: 96,317,804 (GRCm38)	C392R	possibly damaging	Het
Tmem30c	T	C	16: 57,276,780 (GRCm38)	N139S	probably benign	Het
Tns2	C	T	15: 102,113,133 (GRCm38)		probably null	Het
Trim66	T	C	7: 109,475,839 (GRCm38)	E405G	probably damaging	Het
Trpc4	T	A	3: 54,279,994 (GRCm38)	F456I	probably benign	Het
Tspo2	T	C	17: 48,448,790 (GRCm38)	D108G	possibly damaging	Het
Tyk2	A	T	9: 21,121,554 (GRCm38)	C304*	probably null	Het
Vgll4	A	T	6: 114,862,795 (GRCm38)	S185T	probably benign	Het
Vmn2r94	A	C	17: 18,244,470 (GRCm38)	S519R	probably benign	Het
Vmn2r96	T	G	17: 18,597,921 (GRCm38)	S587A	probably benign	Het
Vps4b	C	A	1: 106,778,982 (GRCm38)	A287S	possibly damaging	Het
Yeats2	C	T	16: 20,229,564 (GRCm38)	P1332S	probably benign	Het
Zfp462	T	G	4: 55,010,010 (GRCm38)	S659A	possibly damaging	Het
Zfp507	C	T	7: 35,793,725 (GRCm38)	R631Q	probably damaging	Het
Zswim5	G	T	4: 116,877,699 (GRCm38)	E80D	unknown	Het

Other mutations in Ddx20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Ddx20	APN	3	105,686,670 (GRCm38)	missense	probably damaging	1.00
IGL01832:Ddx20	APN	3	105,679,011 (GRCm38)	missense	probably damaging	0.99
IGL02072:Ddx20	APN	3	105,680,627 (GRCm38)	missense	probably damaging	1.00
IGL02821:Ddx20	APN	3	105,679,277 (GRCm38)	missense	probably benign	0.00
R0520:Ddx20	UTSW	3	105,687,376 (GRCm38)	missense	probably benign
R0600:Ddx20	UTSW	3	105,679,080 (GRCm38)	missense	probably damaging	1.00
R1648:Ddx20	UTSW	3	105,679,188 (GRCm38)	missense	probably benign	0.08
R1817:Ddx20	UTSW	3	105,678,580 (GRCm38)	nonsense	probably null
R1922:Ddx20	UTSW	3	105,678,584 (GRCm38)	missense	probably damaging	1.00
R1955:Ddx20	UTSW	3	105,679,562 (GRCm38)	missense	possibly damaging	0.79
R1993:Ddx20	UTSW	3	105,679,344 (GRCm38)	nonsense	probably null
R2215:Ddx20	UTSW	3	105,680,340 (GRCm38)	splice site	probably benign
R2241:Ddx20	UTSW	3	105,683,205 (GRCm38)	nonsense	probably null
R2315:Ddx20	UTSW	3	105,678,699 (GRCm38)	missense	probably damaging	1.00
R4156:Ddx20	UTSW	3	105,678,933 (GRCm38)	missense	probably benign	0.41
R4790:Ddx20	UTSW	3	105,683,169 (GRCm38)	missense	probably benign	0.02
R4962:Ddx20	UTSW	3	105,680,605 (GRCm38)	missense	possibly damaging	0.95
R5072:Ddx20	UTSW	3	105,682,875 (GRCm38)	critical splice donor site	probably null
R5361:Ddx20	UTSW	3	105,683,509 (GRCm38)	missense	probably damaging	0.96
R5622:Ddx20	UTSW	3	105,679,011 (GRCm38)	missense	probably damaging	0.99
R5936:Ddx20	UTSW	3	105,680,587 (GRCm38)	missense	possibly damaging	0.96
R6007:Ddx20	UTSW	3	105,683,420 (GRCm38)	missense	possibly damaging	0.68
R6192:Ddx20	UTSW	3	105,678,720 (GRCm38)	missense	probably benign
R6916:Ddx20	UTSW	3	105,680,613 (GRCm38)	missense	probably damaging	1.00
R6957:Ddx20	UTSW	3	105,684,310 (GRCm38)	missense	probably benign	0.30
R6970:Ddx20	UTSW	3	105,680,358 (GRCm38)	missense	probably damaging	1.00
R8366:Ddx20	UTSW	3	105,687,379 (GRCm38)	missense	probably benign	0.37
R9176:Ddx20	UTSW	3	105,678,842 (GRCm38)	missense	probably benign	0.01
R9221:Ddx20	UTSW	3	105,680,369 (GRCm38)	nonsense	probably null
R9326:Ddx20	UTSW	3	105,684,419 (GRCm38)	missense	probably damaging	1.00
R9336:Ddx20	UTSW	3	105,678,587 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CAGGGGCTTCTTGATACTCC -3'
(R):5'- AAGTCCATCAGCCGTCTACTTTG -3'

Sequencing Primer
(F):5'- CTCCACTTGAGTCGGGGTATC -3'
(R):5'- GACTTTTGCAGAACTGGTAGAC -3'

Posted On

2014-06-23