Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:Ddx52'

710277

Institutional Source

Beutler Lab

Gene Symbol

Ddx52

Ensembl Gene

ENSMUSG00000020677

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 52

Synonyms

2700029C06Rik, ROK1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.925) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83942062-83963088 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83952270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 365 (C365F)

Ref Sequence

ENSEMBL: ENSMUSP00000048802 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049257]

AlphaFold

Q8K301

Predicted Effect

probably damaging
Transcript: ENSMUST00000049257
AA Change: C365F

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

SMART Domains

Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677
AA Change: C365F

Domain	Start	End	E-Value	Type
Blast:DEXDc	31	97	3e-15	BLAST
DEXDc	185	390	4.45e-51	SMART
HELICc	427	508	1.01e-31	SMART
low complexity region	544	560	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192	I554T	possibly damaging	Het
4930435E12Rik	T	G	16: 38,828,045	D234A	probably benign	Het
Adamts7	C	A	9: 90,195,205	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717	V305A	probably benign	Het
Apob	A	G	12: 8,006,399	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631	Y29*	probably null	Het
Card11	C	A	5: 140,885,521	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165	R211W	probably benign	Het
Cda	T	G	4: 138,351,287	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952	E577D	probably benign	Het
Cel	T	C	2: 28,560,575	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356	S53P	probably damaging	Het
Dnhd1	C	A	7: 105,712,765	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971		probably benign	Het
Fyb	A	G	15: 6,634,816	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167	T352A		Het
Gsdmc	A	T	15: 63,803,637	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573	*311K	probably null	Het
Opcml	T	C	9: 28,675,163	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922		probably benign	Het
Rnf123	T	A	9: 108,052,268	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382		probably benign	Het
Slc22a23	T	C	13: 34,344,578	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058		probably null	Het
Spata31d1b	T	C	13: 59,715,589	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223	D2404G		Het
Vmn1r10	A	C	6: 57,113,848	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890	S33P	probably damaging	Het

Other mutations in Ddx52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Ddx52	APN	11	83952231	missense	probably damaging	0.99
IGL02309:Ddx52	APN	11	83948478	missense	probably damaging	1.00
R0306:Ddx52	UTSW	11	83944648	missense	probably benign	0.22
R1636:Ddx52	UTSW	11	83955343	missense	probably damaging	1.00
R1641:Ddx52	UTSW	11	83943443	critical splice donor site	probably null
R1803:Ddx52	UTSW	11	83946132	missense	probably damaging	0.98
R1834:Ddx52	UTSW	11	83959497	missense	probably benign	0.03
R2037:Ddx52	UTSW	11	83944606	missense	probably benign
R4592:Ddx52	UTSW	11	83957480	missense	probably damaging	1.00
R4716:Ddx52	UTSW	11	83955205	critical splice donor site	probably null
R5774:Ddx52	UTSW	11	83946134	missense	probably damaging	1.00
R5807:Ddx52	UTSW	11	83949682	missense	probably benign	0.00
R5972:Ddx52	UTSW	11	83953225	critical splice acceptor site	probably null
R6132:Ddx52	UTSW	11	83959457	missense	possibly damaging	0.76
R6525:Ddx52	UTSW	11	83953319	critical splice donor site	probably null
R6747:Ddx52	UTSW	11	83955302	missense	probably damaging	1.00
R7250:Ddx52	UTSW	11	83944566	missense	probably benign
R7884:Ddx52	UTSW	11	83952085	splice site	probably null
R8277:Ddx52	UTSW	11	83955114	missense	probably damaging	1.00
R9315:Ddx52	UTSW	11	83946207	missense	probably benign	0.02
R9420:Ddx52	UTSW	11	83942182	missense	probably damaging	1.00
R9677:Ddx52	UTSW	11	83946120	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TGTAACCACGGCTTGTTTTGC -3'
(R):5'- CTGAAACAGCCTCCACCTTG -3'

Sequencing Primer
(F):5'- CACGGCTTGTTTTGCTATTCATTAG -3'
(R):5'- GAAAAGCACTGTCACTTGTCAG -3'

Posted On

2022-04-18