Mutagenetix > Incidental Mutation

Incidental Mutation 'R4853:Ddx54'

373704

Institutional Source

Beutler Lab

Gene Symbol

Ddx54

Ensembl Gene

ENSMUSG00000029599

Gene Name

DEAD box helicase 54

Synonyms

DP97, 2410015A15Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 54, APR-5

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4853 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

120751182-120766657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120761694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 490 (D490G)

Ref Sequence

ENSEMBL: ENSMUSP00000031598 (fasta)

Gene Model

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

AlphaFold

Q8K4L0

Predicted Effect

probably benign
Transcript: ENSMUST00000031598
AA Change: D490G

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: D490G

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Abr	T	C	11: 76,355,087 (GRCm39)	T244A	probably damaging	Het
Adcy10	T	A	1: 165,375,782 (GRCm39)	N803K	probably benign	Het
Afm	T	C	5: 90,699,326 (GRCm39)	F590S	probably damaging	Het
Agk	T	C	6: 40,360,753 (GRCm39)		probably null	Het
Agrn	C	T	4: 156,270,007 (GRCm39)		probably null	Het
Apon	A	G	10: 128,090,951 (GRCm39)	S210G	probably benign	Het
Atad5	A	G	11: 79,986,098 (GRCm39)	E395G	probably damaging	Het
AU018091	A	T	7: 3,205,861 (GRCm39)	L671H	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Ccdc154	A	T	17: 25,389,941 (GRCm39)	I524F	probably damaging	Het
Clspn	T	A	4: 126,460,348 (GRCm39)	I525K	probably damaging	Het
Cpne5	A	T	17: 29,380,172 (GRCm39)	V448E	probably benign	Het
Cps1	A	G	1: 67,195,361 (GRCm39)	I261V	possibly damaging	Het
Crybb2	T	C	5: 113,211,054 (GRCm39)	E78G	probably damaging	Het
Ctps1	G	T	4: 120,411,207 (GRCm39)	L270I	probably damaging	Het
Cyp19a1	T	C	9: 54,074,060 (GRCm39)	D431G	probably benign	Het
Cyp3a57	T	G	5: 145,302,489 (GRCm39)	V95G	probably damaging	Het
Dnai2	A	T	11: 114,635,917 (GRCm39)	I301F	probably benign	Het
Dsg1b	A	G	18: 20,541,793 (GRCm39)	S767G	probably benign	Het
Dsg1b	A	T	18: 20,523,189 (GRCm39)		probably null	Het
Ermap	G	A	4: 119,044,451 (GRCm39)	P115L	probably damaging	Het
Esrra	T	G	19: 6,897,440 (GRCm39)	T106P	probably damaging	Het
Exoc5	GTATT	GT	14: 49,289,826 (GRCm39)		probably benign	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gnl3	T	C	14: 30,737,270 (GRCm39)	K203E	probably damaging	Het
H2ac13	A	G	13: 21,900,866 (GRCm39)	E92G	probably damaging	Het
Habp2	G	A	19: 56,299,623 (GRCm39)		probably null	Het
Kcnh3	A	C	15: 99,139,970 (GRCm39)	D952A	possibly damaging	Het
Kif27	T	C	13: 58,459,072 (GRCm39)	K920E	probably benign	Het
Kmt2e	C	T	5: 23,707,339 (GRCm39)	P1634L	probably damaging	Het
Lamc1	A	T	1: 153,104,846 (GRCm39)	M1312K	possibly damaging	Het
Myh14	T	A	7: 44,257,872 (GRCm39)	Q1921L	probably damaging	Het
Ncor2	A	G	5: 125,102,169 (GRCm39)	V68A	probably damaging	Het
Ncor2	A	G	5: 125,158,247 (GRCm39)	F444L	unknown	Het
Nedd9	A	G	13: 41,469,837 (GRCm39)	Y439H	probably benign	Het
Nsd1	T	A	13: 55,416,317 (GRCm39)	H1454Q	probably benign	Het
Or10v9	T	A	19: 11,832,645 (GRCm39)	D224V	probably benign	Het
Or51v8	G	T	7: 103,320,010 (GRCm39)	T76K	probably damaging	Het
Or5i1	T	G	2: 87,613,526 (GRCm39)	F214C	probably benign	Het
Or9m1b	A	G	2: 87,836,448 (GRCm39)	S216P	probably damaging	Het
P4ha2	G	A	11: 54,010,996 (GRCm39)	S337N	probably benign	Het
Pck1	T	A	2: 172,996,507 (GRCm39)	Y140*	probably null	Het
Phldb2	T	C	16: 45,623,079 (GRCm39)	M656V	probably damaging	Het
Pif1	T	C	9: 65,500,858 (GRCm39)	W559R	probably damaging	Het
Pllp	T	C	8: 95,406,022 (GRCm39)	Y87C	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,046 (GRCm39)	N623D	probably benign	Het
Prkcg	C	T	7: 3,367,469 (GRCm39)	R345C	probably damaging	Het
Rgl1	T	C	1: 152,433,325 (GRCm39)	I147V	probably benign	Het
Sdk1	T	A	5: 142,132,018 (GRCm39)	L1649Q	probably damaging	Het
Sema3b	C	T	9: 107,479,266 (GRCm39)		probably null	Het
Sh3rf3	G	A	10: 58,919,341 (GRCm39)	R486H	probably damaging	Het
Shoc1	T	C	4: 59,072,345 (GRCm39)	K624E	possibly damaging	Het
Slain2	A	G	5: 73,105,941 (GRCm39)	N192S	probably benign	Het
Slc22a16	T	A	10: 40,450,047 (GRCm39)	I161N	probably damaging	Het
Strip1	T	C	3: 107,524,232 (GRCm39)	K562E	possibly damaging	Het
Sumf1	A	G	6: 108,162,456 (GRCm39)	L21S	probably benign	Het
Sytl3	T	A	17: 7,005,164 (GRCm39)	S380T	probably damaging	Het
Tgfb1i1	T	A	7: 127,847,840 (GRCm39)	C74*	probably null	Het
Tmprss15	T	G	16: 78,757,479 (GRCm39)	I939L	probably benign	Het
Tpsb2	GGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTG	17: 25,585,536 (GRCm39)		probably benign	Het
Vwde	A	T	6: 13,215,639 (GRCm39)	V139E	probably damaging	Het
Wdr27	A	G	17: 15,137,475 (GRCm39)		probably null	Het
Zkscan14	A	G	5: 145,132,001 (GRCm39)	V510A	probably benign	Het

Other mutations in Ddx54

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00922:Ddx54	APN	5	120,761,875 (GRCm39)	critical splice donor site	probably null
IGL01324:Ddx54	APN	5	120,761,703 (GRCm39)	missense	probably benign	0.00
IGL01399:Ddx54	APN	5	120,761,968 (GRCm39)	nonsense	probably null
IGL02052:Ddx54	APN	5	120,763,783 (GRCm39)	missense	possibly damaging	0.93
IGL02095:Ddx54	APN	5	120,761,856 (GRCm39)	missense	possibly damaging	0.81
IGL02370:Ddx54	APN	5	120,757,852 (GRCm39)	missense	probably damaging	1.00
IGL02861:Ddx54	APN	5	120,756,195 (GRCm39)	splice site	probably benign
R0521:Ddx54	UTSW	5	120,764,927 (GRCm39)	missense	probably benign	0.00
R0556:Ddx54	UTSW	5	120,757,719 (GRCm39)	splice site	probably benign
R0723:Ddx54	UTSW	5	120,761,703 (GRCm39)	missense	probably benign	0.00
R2968:Ddx54	UTSW	5	120,756,694 (GRCm39)	missense	probably damaging	1.00
R4622:Ddx54	UTSW	5	120,764,488 (GRCm39)	missense	probably damaging	1.00
R5168:Ddx54	UTSW	5	120,755,097 (GRCm39)	missense	probably benign	0.00
R5169:Ddx54	UTSW	5	120,761,328 (GRCm39)	missense	probably damaging	1.00
R5424:Ddx54	UTSW	5	120,757,926 (GRCm39)	critical splice donor site	probably null
R5489:Ddx54	UTSW	5	120,762,786 (GRCm39)	missense	probably benign
R5956:Ddx54	UTSW	5	120,764,432 (GRCm39)	unclassified	probably benign
R5999:Ddx54	UTSW	5	120,761,645 (GRCm39)	missense	probably benign	0.00
R6220:Ddx54	UTSW	5	120,758,754 (GRCm39)	missense	probably benign	0.09
R6413:Ddx54	UTSW	5	120,765,127 (GRCm39)	missense	probably benign
R6477:Ddx54	UTSW	5	120,759,843 (GRCm39)	missense	probably damaging	1.00
R6702:Ddx54	UTSW	5	120,764,568 (GRCm39)	missense	possibly damaging	0.52
R6783:Ddx54	UTSW	5	120,756,779 (GRCm39)	nonsense	probably null
R6865:Ddx54	UTSW	5	120,759,892 (GRCm39)	critical splice donor site	probably null
R7258:Ddx54	UTSW	5	120,758,812 (GRCm39)	missense	probably damaging	1.00
R7260:Ddx54	UTSW	5	120,764,985 (GRCm39)	missense	probably benign	0.21
R7488:Ddx54	UTSW	5	120,762,789 (GRCm39)	missense	probably benign
R7887:Ddx54	UTSW	5	120,765,268 (GRCm39)	missense	probably damaging	1.00
R8179:Ddx54	UTSW	5	120,765,167 (GRCm39)	missense	probably benign
R8303:Ddx54	UTSW	5	120,759,855 (GRCm39)	missense	probably damaging	1.00
R8781:Ddx54	UTSW	5	120,751,217 (GRCm39)	missense	probably benign	0.37
R9451:Ddx54	UTSW	5	120,765,209 (GRCm39)	missense	probably damaging	1.00
R9731:Ddx54	UTSW	5	120,758,807 (GRCm39)	missense	probably benign	0.00
R9732:Ddx54	UTSW	5	120,763,911 (GRCm39)	critical splice donor site	probably null
R9760:Ddx54	UTSW	5	120,761,672 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGATGTCTGCTGGGTCTGAC -3'
(R):5'- CTTACTGAAGAGTGGGTGCAAGC -3'

Sequencing Primer
(F):5'- TCTGCTGGGTCTGACCGTAC -3'
(R):5'- TGCAAGCCCAGCTCTGC -3'

Posted On

2016-03-01