Mutagenetix > Incidental Mutation

Incidental Mutation 'R6477:Ddx54'

516833

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

MMRRC Submission

044609-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6477 (G1)

Quality Score

207.009

Status

Not validated

Chromosome

Chromosomal Location

120751182-120766657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120759843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 410 (I410N)

Ref Sequence

ENSEMBL: ENSMUSP00000031598 (fasta)

Gene Model

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

AlphaFold

Q8K4L0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031598
AA Change: I410N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: I410N

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: ENSMUST00000202387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202672

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.1%

Validation Efficiency

97% (60/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,909,696 (GRCm39)	D23G	probably benign	Het
Abca14	T	C	7: 119,924,325 (GRCm39)	I1659T	probably benign	Het
Ankdd1a	C	T	9: 65,409,494 (GRCm39)	V481M	probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Cfap161	T	A	7: 83,443,230 (GRCm39)	R20*	probably null	Het
Cops7a	A	T	6: 124,937,139 (GRCm39)	V184E	probably damaging	Het
Cpa3	T	C	3: 20,293,739 (GRCm39)	E83G	possibly damaging	Het
Crls1	C	T	2: 132,703,153 (GRCm39)	S201L	probably benign	Het
Cyp4f39	C	A	17: 32,700,791 (GRCm39)	S153R	probably damaging	Het
Dido1	T	A	2: 180,302,274 (GRCm39)	T1877S	probably benign	Het
Dip2c	A	G	13: 9,673,796 (GRCm39)	S1079G	probably damaging	Het
Dnhd1	G	A	7: 105,327,093 (GRCm39)	V681I	probably benign	Het
Dst	A	G	1: 34,247,809 (GRCm39)		probably null	Het
Eya2	A	G	2: 165,605,681 (GRCm39)	T362A	probably benign	Het
Garre1	A	G	7: 33,957,055 (GRCm39)		probably null	Het
Hgs	G	A	11: 120,360,481 (GRCm39)	V60M	probably damaging	Het
Inpp4b	A	G	8: 82,571,343 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kdr	C	A	5: 76,129,501 (GRCm39)	A129S	probably benign	Het
Lhcgr	A	T	17: 89,049,801 (GRCm39)	M575K	probably damaging	Het
Lsamp	G	T	16: 41,988,528 (GRCm39)		probably benign	Het
Mcm5	T	C	8: 75,839,230 (GRCm39)	V161A	probably benign	Het
Mmp14	A	T	14: 54,675,115 (GRCm39)	H249L	probably damaging	Het
Mroh5	A	G	15: 73,662,604 (GRCm39)	S405P	probably damaging	Het
Mroh9	C	A	1: 162,903,873 (GRCm39)	L46F	probably damaging	Het
Mtrr	A	T	13: 68,718,192 (GRCm39)	H357Q	probably damaging	Het
Myrf	G	A	19: 10,206,149 (GRCm39)	P89L	probably benign	Het
Mzb1	C	T	18: 35,781,311 (GRCm39)		probably null	Het
Naip6	A	G	13: 100,452,516 (GRCm39)	S182P	probably damaging	Het
Nmur2	A	T	11: 55,920,417 (GRCm39)	F276Y	probably damaging	Het
Nudt12	G	T	17: 59,318,140 (GRCm39)	S35Y	probably benign	Het
Or51h5	T	A	7: 102,577,585 (GRCm39)	V250E	probably damaging	Het
Or56b1	T	C	7: 104,284,886 (GRCm39)	S2P	probably benign	Het
Or9m1	A	G	2: 87,733,334 (GRCm39)	S229P	probably damaging	Het
Osbpl1a	T	C	18: 12,889,318 (GRCm39)	I541V	probably benign	Het
Parp4	A	G	14: 56,884,694 (GRCm39)	K1258E	probably benign	Het
Plcxd2	C	G	16: 45,801,022 (GRCm39)	K67N	probably damaging	Het
Pnpla6	A	G	8: 3,586,627 (GRCm39)	T930A	probably benign	Het
Pomt1	G	A	2: 32,138,728 (GRCm39)		probably null	Het
Ppp1r14bl	A	T	1: 23,140,861 (GRCm39)	L151Q	probably benign	Het
Pramel6	A	G	2: 87,340,946 (GRCm39)	Y426C	possibly damaging	Het
Prss27	A	G	17: 24,263,235 (GRCm39)	T83A	probably damaging	Het
Rbm27	T	A	18: 42,466,383 (GRCm39)	V915E	probably damaging	Het
Rnf114	T	A	2: 167,345,408 (GRCm39)	D10E	probably benign	Het
Sbk1	A	G	7: 125,890,350 (GRCm39)	E121G	probably damaging	Het
Senp6	A	T	9: 80,000,907 (GRCm39)	R39*	probably null	Het
Sergef	A	T	7: 46,283,250 (GRCm39)	I94N	probably benign	Het
Slc30a9	C	T	5: 67,485,867 (GRCm39)	R183W	probably benign	Het
Smurf1	C	T	5: 144,826,602 (GRCm39)	R414H	possibly damaging	Het
Sptb	A	T	12: 76,653,166 (GRCm39)	W1566R	probably damaging	Het
Tenm2	T	C	11: 35,901,334 (GRCm39)		probably null	Het
Tnni1	T	C	1: 135,733,304 (GRCm39)	V42A	probably benign	Het
Tnxb	A	G	17: 34,938,513 (GRCm39)	Y3098C	probably damaging	Het
Ubald2	T	C	11: 116,325,400 (GRCm39)	F46L	probably benign	Het
Ubqln5	G	A	7: 103,777,465 (GRCm39)	S453F	probably damaging	Het
Ubr3	A	T	2: 69,809,773 (GRCm39)	R1248*	probably null	Het
Utp20	A	G	10: 88,604,780 (GRCm39)	V1705A	probably benign	Het
Zfp60	G	A	7: 27,449,228 (GRCm39)	R632H	probably benign	Het
Zfp638	A	G	6: 83,942,560 (GRCm39)	Y957C	probably damaging	Het
Zfp825	A	T	13: 74,629,029 (GRCm39)	S162R	possibly damaging	Het
Zfp831	A	C	2: 174,545,960 (GRCm39)	K1355T	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
R4853:Ddx54	UTSW	5	120,761,694 (GRCm39)	missense	probably benign	0.12
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
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'- AGTGTTCAGACCCAGAGTGC -3'
(R):5'- TCTGTTCCCAACACCGAAAG -3'

Sequencing Primer
(F):5'- AGACCCAGAGTGCCCGAG -3'
(R):5'- TGAGGCTGCCTGTCAGAAC -3'

Posted On

2018-05-21