Mutagenetix > Incidental Mutations

Incidental Mutation 'R5956:Ddx54'

471176

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

044144-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120612739-120628592 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 120626367 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137554 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000031598

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (63/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,157,119	I398K	possibly damaging	Het
A530099J19Rik	T	G	13: 19,729,130		noncoding transcript	Het
Acad9	A	G	3: 36,075,174		probably benign	Het
Acsm2	T	C	7: 119,554,481	S5P	unknown	Het
Akp3	T	C	1: 87,126,945	I334T	probably damaging	Het
Amy1	C	T	3: 113,563,662	R176H	probably benign	Het
Ank2	A	T	3: 126,942,688		probably benign	Het
Cav1	C	A	6: 17,307,919	N23K	probably damaging	Het
Cep126	A	G	9: 8,112,119	V151A	probably benign	Het
Cnot1	A	G	8: 95,754,978		probably null	Het
Crim1	T	A	17: 78,315,717	V448E	probably damaging	Het
Csmd3	T	C	15: 48,791,882	E8G	possibly damaging	Het
Ddx31	A	T	2: 28,874,173	I464F	probably damaging	Het
Dhx16	A	G	17: 35,882,870	E319G	probably damaging	Het
Efl1	A	G	7: 82,651,899	D37G	probably damaging	Het
Epha5	T	C	5: 84,150,369	R444G	probably damaging	Het
Exoc2	C	A	13: 30,820,623	C859F	probably benign	Het
Gbx2	T	C	1: 89,933,186		probably benign	Het
Gm12258	G	A	11: 58,859,459	A9T	probably benign	Het
Gm1966	T	C	7: 106,601,470		noncoding transcript	Het
Grm4	A	G	17: 27,435,155	V607A	probably benign	Het
Ighv1-74	C	A	12: 115,802,835	W55L	probably damaging	Het
Irx4	C	A	13: 73,267,507	Y138*	probably null	Het
Itpr1	C	A	6: 108,506,027	T2352K	probably benign	Het
Kcnk3	T	G	5: 30,588,510	V65G	probably damaging	Het
Mctp2	T	C	7: 72,259,175	E130G	probably benign	Het
Mgat5	C	A	1: 127,382,939	R197S	probably benign	Het
Mpg	T	C	11: 32,227,951		probably null	Het
Muc5b	T	C	7: 141,864,173	C3619R	probably damaging	Het
Myo15b	G	A	11: 115,873,757	V1321I	probably benign	Het
Myo1b	T	C	1: 51,776,232	T658A	probably damaging	Het
Nomo1	T	C	7: 46,042,613	S154P	possibly damaging	Het
Nsd1	T	A	13: 55,263,404	F1423I	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1012	A	G	2: 85,753,839		probably benign	Het
Osbpl6	A	G	2: 76,549,512	R149G	probably damaging	Het
Papola	T	A	12: 105,811,041	W281R	probably damaging	Het
Pole	C	T	5: 110,337,287		probably benign	Het
Rptn	A	G	3: 93,398,027	N889S	possibly damaging	Het
Scn10a	A	G	9: 119,631,560	S1084P	probably damaging	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Siglece	T	C	7: 43,659,336	T198A	probably damaging	Het
Sptb	T	A	12: 76,604,168	M1678L	probably benign	Het
Taf8	A	T	17: 47,498,542	M98K	probably damaging	Het
Tead2	T	A	7: 45,220,714		probably benign	Het
Tmem206	A	G	1: 191,348,371	S263G	probably damaging	Het
Trrap	C	T	5: 144,807,391		silent	Het
Ttn	G	T	2: 76,945,570	N1709K	probably damaging	Het
Ube3a	T	C	7: 59,277,020		probably benign	Het
Ube3c	T	C	5: 29,599,056		probably benign	Het
Unc80	T	C	1: 66,527,964	S910P	probably damaging	Het
Usp30	G	A	5: 114,119,621	R280Q	possibly damaging	Het
Vsx1	T	C	2: 150,688,537	S142G	possibly damaging	Het
Wdr95	T	G	5: 149,594,482	C360G	probably benign	Het
Zbtb4	A	G	11: 69,778,214	I588V	probably benign	Het
Zdhhc4	A	T	5: 143,324,849		probably benign	Het
Zfp568	C	A	7: 29,997,863	N69K	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
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
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'- CACAGGGCTCGAATGTGTTG -3'
(R):5'- TATAGGGACAGCAGCATGACAC -3'

Sequencing Primer
(F):5'- TGTGGGGATCGAGCTCC -3'
(R):5'- TAGACCTGGCCCCTCCTATAGG -3'

Posted On

2017-03-31