Mutagenetix > Incidental Mutations

Incidental Mutation 'R0723:Ddx54'

218678

Institutional Source

Beutler Lab

Gene Symbol

Ddx54

Ensembl Gene

ENSMUSG00000029599

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 54

Synonyms

2410015A15Rik, APR-5, DP97

MMRRC Submission

038905-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0723 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120612739-120628592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120623638 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 493 (D493G)

Ref Sequence

ENSEMBL: ENSMUSP00000031598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031598] [ENSMUST00000177908]

Predicted Effect

probably benign
Transcript: ENSMUST00000031598
AA Change: D493G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: D493G

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
Blast:DEXDc	59	101	9e-19	BLAST
DEXDc	114	313	3.5e-58	SMART
HELICc	347	432	7.86e-20	SMART
low complexity region	628	646	N/A	INTRINSIC
DBP10CT	706	766	1.45e-25	SMART
low complexity region	778	801	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177908

SMART Domains

Protein: ENSMUSP00000137554
Gene: ENSMUSG00000094282

Domain	Start	End	E-Value	Type
Pfam:DUF4200	35	151	2.1e-25	PFAM
coiled coil region	185	231	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202672

Meta Mutation Damage Score

0.0955

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.0%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. 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. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	A	4: 42,971,691	N341K	probably damaging	Het
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4931423N10Rik	T	C	2: 23,256,924		probably benign	Het
8030411F24Rik	T	C	2: 148,783,362	I72T	probably damaging	Het
Acbd5	T	G	2: 23,069,596	V54G	probably damaging	Het
Acin1	A	T	14: 54,665,451	S255T	probably damaging	Het
Adcy2	A	G	13: 68,999,129	L56P	probably damaging	Het
Akap6	G	T	12: 53,141,902	C2033F	probably damaging	Het
Ano5	A	G	7: 51,587,758	I777V	probably benign	Het
Arhgef28	A	G	13: 97,939,479	V1349A	probably benign	Het
Bank1	T	C	3: 136,054,403		probably null	Het
C2cd5	T	C	6: 143,041,555		probably benign	Het
Cadps2	A	G	6: 23,287,698	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703	D268E	probably benign	Het
Ckap5	T	A	2: 91,555,331	S175T	probably damaging	Het
Clk4	T	A	11: 51,275,493	Y67*	probably null	Het
Copg2	T	C	6: 30,815,982	I473V	possibly damaging	Het
Cyp2s1	C	T	7: 25,809,548	V43I	probably benign	Het
Efemp2	T	C	19: 5,480,050	S140P	probably damaging	Het
Fam214a	G	A	9: 75,009,451	G444E	probably damaging	Het
Fat1	C	A	8: 45,026,749	T2944K	probably damaging	Het
Fgfr1	T	A	8: 25,557,768	D43E	probably damaging	Het
Fry	G	A	5: 150,496,360	A996T	probably damaging	Het
Fyb2	G	A	4: 105,015,866	V784I	probably benign	Het
Gm6507	T	A	6: 89,185,162		noncoding transcript	Het
Gm7964	T	C	7: 83,756,166		noncoding transcript	Het
Gucy2c	T	C	6: 136,727,801		probably null	Het
Hdac10	A	T	15: 89,126,418	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,698,828	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,921,575	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,956,026	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,701,213		probably benign	Het
Kif22	A	T	7: 127,033,906	M121K	probably damaging	Het
Kl	G	A	5: 150,953,101	D129N	probably damaging	Het
Mettl13	A	T	1: 162,534,430	I648N	probably damaging	Het
Mlh1	C	T	9: 111,271,472	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,270,512		probably benign	Het
Myo15	C	A	11: 60,478,977	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,319,680	I84T	probably benign	Het
Myo9a	A	T	9: 59,871,100	S1380C	probably benign	Het
Myof	A	G	19: 37,981,260	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,662,432	S28P	probably damaging	Het
Narfl	G	A	17: 25,781,821	V406M	probably damaging	Het
Nbr1	C	T	11: 101,576,319	Q570*	probably null	Het
Nhp2	C	T	11: 51,619,923	Q36*	probably null	Het
Olfr23	T	G	11: 73,940,270	V8G	probably benign	Het
Olfr884	G	T	9: 38,047,827	V202L	probably benign	Het
Poc1b	T	A	10: 99,129,595	W129R	probably damaging	Het
Rapgef2	C	T	3: 79,079,174	E1018K	probably benign	Het
Rgs12	T	C	5: 35,024,366		probably benign	Het
Rufy2	G	A	10: 62,998,094	V280I	probably benign	Het
Snx2	A	G	18: 53,210,372	I281V	probably benign	Het
Spag5	C	A	11: 78,319,584		probably benign	Het
Stxbp5	A	T	10: 9,768,873	I961N	probably damaging	Het
Tet2	T	C	3: 133,467,284	E1739G	probably benign	Het
Tmod2	A	G	9: 75,595,055	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,007,166		probably null	Het
Ttn	T	C	2: 76,786,335	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,440,879		probably benign	Het
Ubr1	A	T	2: 120,881,101	Y1437*	probably null	Het
Vwf	C	A	6: 125,566,262	D170E	probably benign	Het
Wdr95	C	G	5: 149,574,048	I230M	probably damaging	Het
Xirp2	C	T	2: 67,512,215	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,244,883	K322E	probably damaging	Het

Other mutations in Ddx54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Ddx54	APN	5	120623810	critical splice donor site	probably null
IGL01324:Ddx54	APN	5	120623638	missense	probably benign	0.00
IGL01399:Ddx54	APN	5	120623903	nonsense	probably null
IGL02052:Ddx54	APN	5	120625718	missense	possibly damaging	0.93
IGL02095:Ddx54	APN	5	120623791	missense	possibly damaging	0.81
IGL02370:Ddx54	APN	5	120619787	missense	probably damaging	1.00
IGL02861:Ddx54	APN	5	120618130	splice site	probably benign
R0521:Ddx54	UTSW	5	120626862	missense	probably benign	0.00
R0556:Ddx54	UTSW	5	120619654	splice site	probably benign
R2968:Ddx54	UTSW	5	120618629	missense	probably damaging	1.00
R4622:Ddx54	UTSW	5	120626423	missense	probably damaging	1.00
R4853:Ddx54	UTSW	5	120623629	missense	probably benign	0.12
R5168:Ddx54	UTSW	5	120617032	missense	probably benign	0.00
R5169:Ddx54	UTSW	5	120623263	missense	probably damaging	1.00
R5424:Ddx54	UTSW	5	120619861	critical splice donor site	probably null
R5489:Ddx54	UTSW	5	120624721	missense	probably benign
R5956:Ddx54	UTSW	5	120626367	unclassified	probably benign
R5999:Ddx54	UTSW	5	120623580	missense	probably benign	0.00
R6220:Ddx54	UTSW	5	120620689	missense	probably benign	0.09
R6413:Ddx54	UTSW	5	120627062	missense	probably benign
R6477:Ddx54	UTSW	5	120621778	missense	probably damaging	1.00
R6702:Ddx54	UTSW	5	120626503	missense	possibly damaging	0.52
R6783:Ddx54	UTSW	5	120618714	nonsense	probably null
R6865:Ddx54	UTSW	5	120621827	critical splice donor site	probably null
R7258:Ddx54	UTSW	5	120620747	missense	probably damaging	1.00
R7260:Ddx54	UTSW	5	120626920	missense	probably benign	0.21
R7488:Ddx54	UTSW	5	120624724	missense	probably benign
R7887:Ddx54	UTSW	5	120627203	missense	probably damaging	1.00
R8179:Ddx54	UTSW	5	120627102	missense	probably benign
R8303:Ddx54	UTSW	5	120621790	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTTGGGCTATTGTTGCCAGAG -3'
(R):5'- TCGTGCTCACAAGAACGTCCATCC -3'

Sequencing Primer
(F):5'- CTATTGTTGCCAGAGTGGGG -3'
(R):5'- TGCCCAGCTTACTGAAGAGTG -3'

Posted On

2014-08-19