Mutagenetix > Incidental Mutations

Incidental Mutation 'R6220:Ddx54'

503943

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

044352-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120612739-120628592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120620689 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 332 (N332K)

Ref Sequence

ENSEMBL: ENSMUSP00000031598 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031598
AA Change: N332K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: N332K

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

noncoding transcript
Transcript: ENSMUST00000201616

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202672

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	T	C	19: 45,846,115	E618G	possibly damaging	Het
Abhd16b	A	G	2: 181,493,785	D160G	probably damaging	Het
Acap1	A	G	11: 69,889,679	F15S	probably damaging	Het
Adam30	A	T	3: 98,161,309	S153C	probably damaging	Het
Afp	A	T	5: 90,504,410	D420V	possibly damaging	Het
Ak9	T	A	10: 41,370,099	H729Q	unknown	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bcr	A	G	10: 75,062,292	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ctns	T	C	11: 73,193,128	T23A	probably benign	Het
Dysf	T	A	6: 84,149,745	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,134,500	M172L	probably benign	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Filip1l	T	A	16: 57,569,989	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,948	T716K	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm10645	A	G	8: 83,165,757		probably benign	Het
Gm10735	T	C	13: 113,041,496		probably benign	Het
Gm4847	A	T	1: 166,634,972	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,690,790	L388P	probably damaging	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Herc1	A	G	9: 66,433,788	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,729,546	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,262,718	N96I	probably damaging	Het
Isl1	T	C	13: 116,303,267	T182A	probably benign	Het
Jph4	T	C	14: 55,110,085	E421G	probably benign	Het
Lrrc45	T	C	11: 120,719,527	I488T	probably benign	Het
Mroh8	A	G	2: 157,233,163	I471T	probably benign	Het
Ms4a2	A	T	19: 11,617,563	D96E	probably damaging	Het
Mst1r	T	A	9: 107,907,348	N68K	probably benign	Het
Myo18b	A	G	5: 112,757,507	M2075T	possibly damaging	Het
Neb	T	C	2: 52,270,972	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,153,971		probably null	Het
Nlrp1a	C	A	11: 71,142,338	S10I	probably benign	Het
Npas2	A	T	1: 39,336,061	T487S	probably benign	Het
Nrxn1	G	C	17: 91,088,476	T84R	probably benign	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,745,251	C921R	probably damaging	Het
Pcdha9	A	G	18: 36,998,478	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,603,203	R315*	probably null	Het
Rasgrp1	C	T	2: 117,284,929	W726*	probably null	Het
Rassf8	G	A	6: 145,817,133	R402H	probably damaging	Het
Rev3l	T	A	10: 39,822,779	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,149,551	V349G	probably damaging	Het
Rps18	A	T	17: 33,955,136	V15E	probably damaging	Het
Rptor	A	T	11: 119,897,442	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 94,658,750	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,729	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,114,329	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,439,021	M295K	possibly damaging	Het
Sv2c	T	C	13: 95,976,626	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,875,201	W252*	probably null	Het
Tes	T	A	6: 17,086,196	C29*	probably null	Het
Thsd4	A	G	9: 59,982,747	W856R	probably damaging	Het
Treml4	A	T	17: 48,264,848	D93V	possibly damaging	Het
Trim66	T	C	7: 109,483,093	T218A	probably damaging	Het
Tssk5	T	C	15: 76,373,773	D128G	probably damaging	Het
Ubr3	T	A	2: 70,020,475	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,568	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,479,938	D86E	probably benign	Het
Zfp184	T	G	13: 21,960,207	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,999,404	F341L	probably benign	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
R0723:Ddx54	UTSW	5	120623638	missense	probably benign	0.00
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
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'- CGTAGACTCCAAGCTCAATGAG -3'
(R):5'- TGTCAGCGTGTGGGAAAAGC -3'

Sequencing Primer
(F):5'- CTCAATGAGCAGCTCAAGGTG -3'
(R):5'- CTCATGGGCGCGCTATTG -3'

Posted On

2018-02-27