Mutagenetix > Incidental Mutation

Incidental Mutation 'R0723:Ddx54'

218678

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

038905-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0723 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

120751182-120766657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120761703 bp (GRCm39)

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]

AlphaFold

Q8K4L0

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
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acbd5	T	G	2: 22,959,608 (GRCm39)	V54G	probably damaging	Het
Acin1	A	T	14: 54,902,908 (GRCm39)	S255T	probably damaging	Het
Adcy2	A	G	13: 69,147,248 (GRCm39)	L56P	probably damaging	Het
Akap6	G	T	12: 53,188,685 (GRCm39)	C2033F	probably damaging	Het
Ano5	A	G	7: 51,237,506 (GRCm39)	I777V	probably benign	Het
Arhgef28	A	G	13: 98,075,987 (GRCm39)	V1349A	probably benign	Het
Atosa	G	A	9: 74,916,733 (GRCm39)	G444E	probably damaging	Het
Bank1	T	C	3: 135,760,164 (GRCm39)		probably null	Het
C2cd5	T	C	6: 142,987,281 (GRCm39)		probably benign	Het
Cadps2	A	G	6: 23,287,697 (GRCm39)	V1161A	probably damaging	Het
Car8	A	T	4: 8,169,703 (GRCm39)	D268E	probably benign	Het
Ciao3	G	A	17: 26,000,795 (GRCm39)	V406M	probably damaging	Het
Ckap5	T	A	2: 91,385,676 (GRCm39)	S175T	probably damaging	Het
Clk4	T	A	11: 51,166,320 (GRCm39)	Y67*	probably null	Het
Copg2	T	C	6: 30,792,917 (GRCm39)	I473V	possibly damaging	Het
Cstdc1	T	C	2: 148,625,282 (GRCm39)	I72T	probably damaging	Het
Cyp2s1	C	T	7: 25,508,973 (GRCm39)	V43I	probably benign	Het
Efemp2	T	C	19: 5,530,078 (GRCm39)	S140P	probably damaging	Het
Fat1	C	A	8: 45,479,786 (GRCm39)	T2944K	probably damaging	Het
Fgfr1	T	A	8: 26,047,784 (GRCm39)	D43E	probably damaging	Het
Fry	G	A	5: 150,419,825 (GRCm39)	A996T	probably damaging	Het
Fyb2	G	A	4: 104,873,063 (GRCm39)	V784I	probably benign	Het
Gm6507	T	A	6: 89,162,144 (GRCm39)		noncoding transcript	Het
Gm7964	T	C	7: 83,405,374 (GRCm39)		noncoding transcript	Het
Gucy2c	T	C	6: 136,704,799 (GRCm39)		probably null	Het
Hdac10	A	T	15: 89,010,621 (GRCm39)	L259Q	probably damaging	Het
Hoxd9	A	T	2: 74,529,172 (GRCm39)	D258V	probably damaging	Het
Hs3st3b1	T	C	11: 63,812,401 (GRCm39)	T105A	probably benign	Het
Hsd17b7	A	G	1: 169,783,595 (GRCm39)	L271P	probably damaging	Het
Ifnlr1	T	A	4: 135,428,524 (GRCm39)		probably benign	Het
Kif22	A	T	7: 126,633,078 (GRCm39)	M121K	probably damaging	Het
Kl	G	A	5: 150,876,566 (GRCm39)	D129N	probably damaging	Het
Mettl13	A	T	1: 162,361,999 (GRCm39)	I648N	probably damaging	Het
Mlh1	C	T	9: 111,100,540 (GRCm39)	R18H	probably damaging	Het
Mtmr14	T	C	6: 113,247,473 (GRCm39)		probably benign	Het
Myo15a	C	A	11: 60,369,803 (GRCm39)	N854K	possibly damaging	Het
Myo1h	T	C	5: 114,457,741 (GRCm39)	I84T	probably benign	Het
Myo9a	A	T	9: 59,778,383 (GRCm39)	S1380C	probably benign	Het
Myof	A	G	19: 37,969,708 (GRCm39)	V318A	probably damaging	Het
N4bp2l2	A	G	5: 150,585,897 (GRCm39)	S28P	probably damaging	Het
Nbr1	C	T	11: 101,467,145 (GRCm39)	Q570*	probably null	Het
Nhp2	C	T	11: 51,510,750 (GRCm39)	Q36*	probably null	Het
Or1e17	T	G	11: 73,831,096 (GRCm39)	V8G	probably benign	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Poc1b	T	A	10: 98,965,457 (GRCm39)	W129R	probably damaging	Het
Potegl	T	C	2: 23,146,936 (GRCm39)		probably benign	Het
Rapgef2	C	T	3: 78,986,481 (GRCm39)	E1018K	probably benign	Het
Rgs12	T	C	5: 35,181,710 (GRCm39)		probably benign	Het
Rufy2	G	A	10: 62,833,873 (GRCm39)	V280I	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Spag5	C	A	11: 78,210,410 (GRCm39)		probably benign	Het
Spata31g1	T	A	4: 42,971,691 (GRCm39)	N341K	probably damaging	Het
Stxbp5	A	T	10: 9,644,617 (GRCm39)	I961N	probably damaging	Het
Tet2	T	C	3: 133,173,045 (GRCm39)	E1739G	probably benign	Het
Tmod2	A	G	9: 75,502,337 (GRCm39)	F50S	possibly damaging	Het
Tnfsf13b	T	G	8: 10,057,166 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,616,679 (GRCm39)	K16525E	possibly damaging	Het
Txnrd2	T	C	16: 18,259,629 (GRCm39)		probably benign	Het
Ubr1	A	T	2: 120,711,582 (GRCm39)	Y1437*	probably null	Het
Vwf	C	A	6: 125,543,225 (GRCm39)	D170E	probably benign	Het
Wdr95	C	G	5: 149,497,513 (GRCm39)	I230M	probably damaging	Het
Xirp2	C	T	2: 67,342,559 (GRCm39)	S1600F	probably damaging	Het
Zfp12	A	G	5: 143,230,638 (GRCm39)	K322E	probably damaging	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
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
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'- ACCCTTGGGCTATTGTTGCCAGAG -3'
(R):5'- TCGTGCTCACAAGAACGTCCATCC -3'

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

Posted On

2014-08-19