Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Ddx54'

731383

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120751182-120766657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120758807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 350 (A350V)

Ref Sequence

ENSEMBL: ENSMUSP00000031598 (fasta)

Gene Model

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

AlphaFold

Q8K4L0

Predicted Effect

probably benign
Transcript: ENSMUST00000031598
AA Change: A350V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: A350V

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,362,918 (GRCm39)	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,048,679 (GRCm39)	R53W	unknown	Het
Abca9	G	T	11: 110,025,024 (GRCm39)	D1006E	probably benign	Het
Abcc6	T	A	7: 45,669,660 (GRCm39)	R132*	probably null	Het
Ankrd40	C	T	11: 94,229,250 (GRCm39)	T283I	probably damaging	Het
Atr	A	G	9: 95,747,092 (GRCm39)	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep290	A	T	10: 100,346,404 (GRCm39)	L527F	probably damaging	Het
Cep295	T	C	9: 15,245,262 (GRCm39)	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Defb23	C	T	2: 152,301,333 (GRCm39)	V80I	probably benign	Het
Dennd5b	G	A	6: 148,970,138 (GRCm39)	T127I	probably damaging	Het
Dnah6	G	T	6: 73,168,589 (GRCm39)	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166 (GRCm39)	H1287R	probably benign	Het
Enpp7	G	A	11: 118,879,151 (GRCm39)	G37R	probably damaging	Het
Exoc2	T	C	13: 31,061,233 (GRCm39)	T554A	probably benign	Het
Fgf8	T	C	19: 45,730,846 (GRCm39)	N60D	probably benign	Het
Gdi2	A	G	13: 3,588,299 (GRCm39)	M1V	probably null	Het
Glra3	G	T	8: 56,542,058 (GRCm39)	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,598 (GRCm39)	R1455H	probably damaging	Het
Grk6	C	A	13: 55,607,640 (GRCm39)	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,751,391 (GRCm39)	D73V	probably benign	Het
Hpse	G	A	5: 100,842,022 (GRCm39)	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,794,826 (GRCm39)	R506*	probably null	Het
Ing1	C	A	8: 11,611,649 (GRCm39)	T123N	probably benign	Het
Kdm2b	T	C	5: 123,125,823 (GRCm39)	D27G	probably benign	Het
Kmt2c	A	T	5: 25,577,956 (GRCm39)	D773E	probably benign	Het
Lrrc7	T	C	3: 157,880,888 (GRCm39)	D516G	probably benign	Het
Lrsam1	A	G	2: 32,835,452 (GRCm39)		probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Meak7	C	A	8: 120,498,010 (GRCm39)	A165S	probably benign	Het
Ndufaf3	T	C	9: 108,443,158 (GRCm39)	*186W	probably null	Het
Ndufaf5	C	T	2: 140,012,807 (GRCm39)	A59V	possibly damaging	Het
Nphp3	T	C	9: 103,886,369 (GRCm39)	L281S	probably damaging	Het
Or10a4	T	G	7: 106,696,786 (GRCm39)	V38G	probably benign	Het
Or4c12	T	A	2: 89,774,316 (GRCm39)	I48F	possibly damaging	Het
Or8b37	A	T	9: 37,958,892 (GRCm39)	I125F	probably damaging	Het
Otogl	G	T	10: 107,735,328 (GRCm39)	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,260,094 (GRCm39)	V38I	probably benign	Het
Polr2a	G	A	11: 69,638,043 (GRCm39)	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,476,206 (GRCm39)	R560Q	possibly damaging	Het
Ptgr3	T	G	18: 84,113,128 (GRCm39)	V268G	probably damaging	Het
Rbm33	A	G	5: 28,544,242 (GRCm39)	E166G	probably damaging	Het
Rgs14	T	A	13: 55,528,784 (GRCm39)	Y308*	probably null	Het
Rpl10a	T	C	17: 28,547,594 (GRCm39)		probably benign	Het
Rras2	A	C	7: 113,659,593 (GRCm39)	I57S	probably damaging	Het
Scn1b	C	T	7: 30,824,596 (GRCm39)	V31M	probably damaging	Het
Sema6d	G	A	2: 124,506,117 (GRCm39)	A642T	probably damaging	Het
Sis	T	A	3: 72,835,543 (GRCm39)	T940S	probably benign	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,904,126 (GRCm39)	Q4*	probably null	Het
Slc44a2	T	A	9: 21,263,770 (GRCm39)	I646N	possibly damaging	Het
Sprtn	C	A	8: 125,629,704 (GRCm39)	Y332*	probably null	Het
Srpk1	A	G	17: 28,825,297 (GRCm39)	I125T	probably damaging	Het
Sv2b	G	A	7: 74,786,068 (GRCm39)	H451Y	probably benign	Het
Tec	G	A	5: 72,939,439 (GRCm39)	T192M	probably benign	Het
Tlr3	G	A	8: 45,850,944 (GRCm39)	T127M	probably damaging	Het
Trim25	C	A	11: 88,906,391 (GRCm39)	P405T	probably benign	Het
Trpm4	T	C	7: 44,958,054 (GRCm39)	D952G	probably damaging	Het
Tsc1	A	G	2: 28,566,486 (GRCm39)	D635G	probably benign	Het
Ttc7b	T	C	12: 100,461,683 (GRCm39)	E98G	possibly damaging	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Usp19	T	A	9: 108,376,885 (GRCm39)	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,553,361 (GRCm39)	L632M	probably benign	Het
Vps13c	C	T	9: 67,826,526 (GRCm39)	T1389I	probably benign	Het
Wasf1	T	A	10: 40,806,731 (GRCm39)	Y125N	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
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
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
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'- TCAATGAGCAGCTCAAGGTG -3'
(R):5'- CACCAGTGTCTTCTGATGTCAG -3'

Sequencing Primer
(F):5'- GGCTCCTTCCTCAGGCTAGTG -3'
(R):5'- TCAGCGTGTGGGAAAAGCC -3'

Posted On

2022-11-14