Mutagenetix > Incidental Mutation

Incidental Mutation 'R8179:Ddx54'

634539

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

067604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120751182-120766657 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120765167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 812 (M812K)

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: M812K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: M812K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,136,100 (GRCm39)	Y170H	probably damaging	Het
Ace3	G	T	11: 105,895,383 (GRCm39)	V602L	probably benign	Het
Ahr	T	C	12: 35,560,050 (GRCm39)	Q201R	probably benign	Het
Aldh18a1	A	C	19: 40,545,952 (GRCm39)	C612G	probably damaging	Het
Ankrd40	G	A	11: 94,225,541 (GRCm39)	A191T	probably benign	Het
Aox1	A	G	1: 58,137,117 (GRCm39)	D1169G	probably damaging	Het
Arfgap2	T	C	2: 91,105,668 (GRCm39)	F505L	probably damaging	Het
Arhgap40	T	C	2: 158,381,776 (GRCm39)	F423L	probably damaging	Het
Atf6b	T	C	17: 34,872,968 (GRCm39)	M628T	probably damaging	Het
Casp8ap2	T	A	4: 32,643,939 (GRCm39)	L1004*	probably null	Het
Cc2d2a	T	A	5: 43,857,295 (GRCm39)	L494Q	probably damaging	Het
Cd180	T	C	13: 102,842,141 (GRCm39)	S396P	probably benign	Het
Cdk19	T	C	10: 40,270,368 (GRCm39)	I59T	possibly damaging	Het
Cfap54	G	T	10: 92,833,178 (GRCm39)	F1149L	possibly damaging	Het
Chp1	C	T	2: 119,378,253 (GRCm39)		probably benign	Het
Clmp	T	C	9: 40,692,475 (GRCm39)	F248S	probably benign	Het
Ctc1	T	A	11: 68,915,050 (GRCm39)	I237K	probably benign	Het
Dcaf1	G	T	9: 106,735,115 (GRCm39)	V688L	probably damaging	Het
Disc1	C	T	8: 125,814,316 (GRCm39)	P60L	probably benign	Het
Disp2	C	G	2: 118,623,030 (GRCm39)	P1254R	probably damaging	Het
Dnah11	T	A	12: 117,842,284 (GRCm39)	I4432F	possibly damaging	Het
Dnajc15	A	T	14: 78,090,393 (GRCm39)	I58N		Het
Elovl5	A	G	9: 77,884,181 (GRCm39)	N159S	probably damaging	Het
Fgfr3	T	C	5: 33,885,099 (GRCm39)	V71A	probably benign	Het
Frs2	A	T	10: 116,912,791 (GRCm39)	H167Q	probably damaging	Het
Gm4553	A	T	7: 141,718,594 (GRCm39)	V278E	unknown	Het
Grin2d	A	T	7: 45,507,452 (GRCm39)	Y416*	probably null	Het
Hmcn1	A	T	1: 150,598,265 (GRCm39)	V1679E	probably benign	Het
Igkv18-36	T	C	6: 69,969,479 (GRCm39)	Y105C	probably damaging	Het
Lingo1	T	C	9: 56,527,134 (GRCm39)	D491G	probably damaging	Het
Map3k1	A	C	13: 111,885,581 (GRCm39)	I1445M	probably damaging	Het
Med30	A	T	15: 52,575,964 (GRCm39)	Q20L	probably damaging	Het
Mgat5b	A	G	11: 116,822,554 (GRCm39)	E96G	probably benign	Het
Mmp16	T	A	4: 17,853,854 (GRCm39)		probably null	Het
Mogat1	A	G	1: 78,504,255 (GRCm39)	D176G	possibly damaging	Het
Mre11a	T	A	9: 14,708,362 (GRCm39)	D142E	probably null	Het
Mybpc2	C	A	7: 44,159,254 (GRCm39)	V599L	probably benign	Het
Myot	A	T	18: 44,487,197 (GRCm39)	R345*	probably null	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or10z1	T	G	1: 174,078,130 (GRCm39)	D121A	possibly damaging	Het
Or8g53	C	T	9: 39,683,200 (GRCm39)	V299I	probably benign	Het
Pglyrp2	T	C	17: 32,635,003 (GRCm39)	Y453C	possibly damaging	Het
Phrf1	A	G	7: 140,836,493 (GRCm39)	Y255C	unknown	Het
Plppr4	A	G	3: 117,125,327 (GRCm39)	S171P	probably damaging	Het
Ppip5k1	A	T	2: 121,172,095 (GRCm39)		probably null	Het
Pramel57	T	C	5: 95,667,753 (GRCm39)	V111A	probably benign	Het
Rapgef3	A	T	15: 97,658,621 (GRCm39)	H170Q	probably benign	Het
Rnf10	ACCTCATCTCGTC	AC	5: 115,398,176 (GRCm39)		probably null	Het
Rpe65	A	G	3: 159,330,336 (GRCm39)	Y501C	probably benign	Het
Ruvbl2	A	G	7: 45,072,196 (GRCm39)	I346T	probably damaging	Het
Sema3g	A	G	14: 30,942,542 (GRCm39)	I48V	probably benign	Het
Slc4a10	A	C	2: 62,073,792 (GRCm39)	S285R	possibly damaging	Het
Slc6a11	G	A	6: 114,222,567 (GRCm39)	G521S	probably benign	Het
Slit3	A	G	11: 35,554,903 (GRCm39)	N912D	probably benign	Het
Traf3ip1	T	C	1: 91,428,523 (GRCm39)	V128A	unknown	Het
Trpc7	T	A	13: 57,035,693 (GRCm39)	N80I	probably damaging	Het
Ttc21b	G	A	2: 66,031,824 (GRCm39)	H1031Y	probably benign	Het
Tubg2	A	T	11: 101,051,082 (GRCm39)	I235F	probably benign	Het
Ube2q2l	A	G	6: 136,378,240 (GRCm39)	S197P	probably damaging	Het
Vmn2r118	A	T	17: 55,915,484 (GRCm39)	Y489N	probably benign	Het
Vmn2r54	G	T	7: 12,366,018 (GRCm39)	C305*	probably null	Het
Vmn2r86	G	A	10: 130,288,953 (GRCm39)	H183Y	probably benign	Het
Xrcc5	T	C	1: 72,396,016 (GRCm39)	V603A	probably damaging	Het
Zfp110	T	A	7: 12,578,498 (GRCm39)	Y136*	probably null	Het
Zfp112	C	T	7: 23,825,063 (GRCm39)	P348S	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
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
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'- TGGAAAGCGAGGTCGTAGTC -3'
(R):5'- ATAGTCCCTGACGTCCACAC -3'

Sequencing Primer
(F):5'- TCGTAGTCAAGGTGGGCAG -3'
(R):5'- TACCAGGAAGCCCCAGG -3'

Posted On

2020-07-13