Mutagenetix > Incidental Mutation

Incidental Mutation 'R0520:Ddx20'

166114

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

038713-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0520 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

105585586-105594890 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105594692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 18 (T18A)

Ref Sequence

ENSEMBL: ENSMUSP00000142675 (fasta)

Gene Model

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

AlphaFold

Q9JJY4

Predicted Effect

probably benign
Transcript: ENSMUST00000090680
AA Change: T18A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: T18A

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
AA Change: T18A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142675
Gene: ENSMUSG00000027905
AA Change: T18A

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
Pfam:DEAD	87	134	7.6e-5	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,288,952 (GRCm39)	I154T	possibly damaging	Het
Acr	G	T	15: 89,457,430 (GRCm39)	C226F	probably damaging	Het
Aff1	C	T	5: 103,995,617 (GRCm39)	R1070*	probably null	Het
Aldh9a1	C	T	1: 167,188,960 (GRCm39)		probably benign	Het
Apaf1	A	T	10: 90,915,851 (GRCm39)	H12Q	probably damaging	Het
Asic1	A	T	15: 99,593,416 (GRCm39)	I291F	probably damaging	Het
Aspm	T	A	1: 139,406,558 (GRCm39)	M1815K	possibly damaging	Het
Asxl3	A	T	18: 22,656,043 (GRCm39)	D1351V	probably damaging	Het
Atg9a	C	T	1: 75,163,178 (GRCm39)	W299*	probably null	Het
B3gntl1	C	A	11: 121,514,314 (GRCm39)	V313F	possibly damaging	Het
B4galnt4	T	A	7: 140,647,286 (GRCm39)	C345*	probably null	Het
Bicc1	A	T	10: 70,793,020 (GRCm39)	F211L	probably damaging	Het
Cachd1	T	G	4: 100,754,900 (GRCm39)	V117G	probably damaging	Het
Cdc16	G	A	8: 13,810,569 (GRCm39)		probably null	Het
Cers6	C	T	2: 68,935,435 (GRCm39)	Q312*	probably null	Het
Csta2	A	G	16: 36,073,461 (GRCm39)	I16V	probably benign	Het
Dclre1c	A	G	2: 3,437,512 (GRCm39)	H115R	probably damaging	Het
Dhx57	A	G	17: 80,565,604 (GRCm39)	V816A	possibly damaging	Het
Dlgap1	C	T	17: 70,823,989 (GRCm39)	Q325*	probably null	Het
Dnaja1	A	T	4: 40,728,072 (GRCm39)	M178L	probably benign	Het
Ecd	A	T	14: 20,378,732 (GRCm39)	S454T	probably benign	Het
Efcab6	G	A	15: 83,834,247 (GRCm39)	H454Y	probably benign	Het
Exo1	T	A	1: 175,727,031 (GRCm39)	D447E	probably benign	Het
F5	T	G	1: 164,037,156 (GRCm39)	I1965S	probably benign	Het
Fbn2	A	G	18: 58,146,821 (GRCm39)	C2692R	probably damaging	Het
Fggy	T	A	4: 95,489,340 (GRCm39)	L152Q	probably damaging	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9871	A	G	6: 101,778,540 (GRCm39)		noncoding transcript	Het
Gnai2	A	T	9: 107,497,372 (GRCm39)	D7E	probably benign	Het
Gon7	C	T	12: 102,724,047 (GRCm39)		probably benign	Het
H2-K2	A	T	17: 34,216,390 (GRCm39)	V272E	probably damaging	Het
Hectd4	G	T	5: 121,469,770 (GRCm39)	R2555L	possibly damaging	Het
Hexb	T	C	13: 97,317,618 (GRCm39)	R360G	probably benign	Het
Igsf9b	C	A	9: 27,234,546 (GRCm39)	S470R	probably benign	Het
Inpp5d	T	C	1: 87,633,642 (GRCm39)		probably benign	Het
Inpp5k	C	A	11: 75,530,356 (GRCm39)	Y265*	probably null	Het
Klhl33	T	G	14: 51,129,140 (GRCm39)	E436D	probably damaging	Het
Krt80	A	G	15: 101,267,898 (GRCm39)	L13P	probably benign	Het
Krtap19-2	C	T	16: 88,670,749 (GRCm39)		probably benign	Het
Marchf10	T	C	11: 105,280,708 (GRCm39)	T526A	probably benign	Het
Mcrs1	A	G	15: 99,146,336 (GRCm39)		probably null	Het
Msh2	G	T	17: 88,024,972 (GRCm39)	V617F	possibly damaging	Het
Nckap1	A	C	2: 80,371,874 (GRCm39)		probably benign	Het
Nek4	T	A	14: 30,681,263 (GRCm39)		probably benign	Het
Or7h8	G	A	9: 20,123,791 (GRCm39)	V49I	probably benign	Het
Or8b12b	T	C	9: 37,684,849 (GRCm39)	V298A	probably benign	Het
Or8k22	G	T	2: 86,163,475 (GRCm39)	T75K	probably damaging	Het
Or9s14	T	A	1: 92,536,471 (GRCm39)	V304E	probably damaging	Het
Osgin1	A	G	8: 120,169,247 (GRCm39)	H48R	probably damaging	Het
Pam	T	A	1: 97,811,920 (GRCm39)	T369S	probably benign	Het
Pclo	C	T	5: 14,763,844 (GRCm39)	Q821*	probably null	Het
Plekhm1	T	C	11: 103,285,770 (GRCm39)	I222V	probably benign	Het
Ptprg	T	G	14: 12,199,783 (GRCm38)	N65K	possibly damaging	Het
Pum2	T	A	12: 8,771,710 (GRCm39)	V351E	probably damaging	Het
Slc25a54	T	A	3: 109,014,546 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,736,538 (GRCm39)	D587E	possibly damaging	Het
Stap1	A	G	5: 86,238,823 (GRCm39)	M164V	probably benign	Het
Stat5a	T	C	11: 100,752,252 (GRCm39)	V30A	probably damaging	Het
Stk36	T	G	1: 74,641,365 (GRCm39)		probably benign	Het
Tiam1	G	T	16: 89,614,839 (GRCm39)		probably benign	Het
Tmc5	T	C	7: 118,265,799 (GRCm39)	M553T	probably damaging	Het
Tmem14a	T	A	1: 21,299,636 (GRCm39)	Y89N	possibly damaging	Het
Tpp2	A	G	1: 44,029,690 (GRCm39)	Y991C	probably damaging	Het
Ttc7	A	G	17: 87,666,579 (GRCm39)	K615E	possibly damaging	Het
Ubac2	C	T	14: 122,231,754 (GRCm39)	P227S	probably damaging	Het
Vit	A	C	17: 78,932,588 (GRCm39)	K565T	probably damaging	Het
Vps13c	T	C	9: 67,853,133 (GRCm39)	F2409L	possibly damaging	Het
Wdr64	A	G	1: 175,553,958 (GRCm39)	T173A	probably damaging	Het
Zfp759	T	C	13: 67,285,419 (GRCm39)	I60T	probably benign	Het
Zfp81	A	G	17: 33,553,351 (GRCm39)	S488P	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- AGTCCTACCCTCAAATTCAACTGCG -3'
(R):5'- TTCTCCGGGAGGCTGCCAATAAAG -3'

Sequencing Primer
(F):5'- TTAGAGCCTGGCTTAGCCC -3'
(R):5'- GAGGCTGCCAATAAAGTTTTTCTCC -3'

Posted On

2014-04-01