Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Ddx52'

342915

Institutional Source

Beutler Lab

Gene Symbol

Ddx52

Ensembl Gene

ENSMUSG00000020677

Gene Name

DExD box helicase 52

Synonyms

ROK1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 52, 2700029C06Rik

MMRRC Submission

041808-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R4592 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83832888-83853914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83848306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 532 (I532T)

Ref Sequence

ENSEMBL: ENSMUSP00000048802 (fasta)

Gene Model

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

AlphaFold

Q8K301

Predicted Effect

probably damaging
Transcript: ENSMUST00000049257
AA Change: I532T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677
AA Change: I532T

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

Meta Mutation Damage Score

0.8979

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	A	4: 62,457,164 (GRCm39)	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,388,629 (GRCm39)	V521A	possibly damaging	Het
Atrn	T	C	2: 130,841,050 (GRCm39)		probably benign	Het
Casp12	T	C	9: 5,352,923 (GRCm39)		probably benign	Het
Cenpf	G	A	1: 189,411,230 (GRCm39)	T318M	probably damaging	Het
Cfap119	C	T	7: 127,184,663 (GRCm39)	R172H	probably benign	Het
Clcn2	T	C	16: 20,527,892 (GRCm39)	K525E	probably damaging	Het
Cntln	A	G	4: 84,889,419 (GRCm39)	T301A	probably benign	Het
Crat	T	C	2: 30,305,378 (GRCm39)		probably benign	Het
Cul5	A	G	9: 53,545,027 (GRCm39)		probably benign	Het
Cxcl14	A	T	13: 56,443,708 (GRCm39)	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,470,819 (GRCm39)	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,386,690 (GRCm39)	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,063,824 (GRCm39)	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,296,963 (GRCm39)	F169S	probably damaging	Het
Dnm1	T	C	2: 32,226,023 (GRCm39)	D352G	probably damaging	Het
Eif4g2	T	C	7: 110,677,509 (GRCm39)	E174G	probably damaging	Het
Enpp6	G	T	8: 47,546,067 (GRCm39)	V386L	probably damaging	Het
Entr1	C	A	2: 26,278,909 (GRCm39)		probably benign	Het
Eps15l1	T	C	8: 73,095,238 (GRCm39)	D904G	probably damaging	Het
Esrrb	A	G	12: 86,565,604 (GRCm39)	Y356C	probably damaging	Het
Flt3	A	T	5: 147,291,509 (GRCm39)	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,766,218 (GRCm39)	C716S	probably damaging	Het
Gm26996	T	A	6: 130,556,448 (GRCm39)		noncoding transcript	Het
Grik2	A	T	10: 49,298,711 (GRCm39)	F50I	possibly damaging	Het
Guf1	T	C	5: 69,723,786 (GRCm39)	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,188,684 (GRCm39)	V55A	probably benign	Het
Impg1	T	A	9: 80,322,907 (GRCm39)	I33F	probably benign	Het
Ltbp4	A	C	7: 27,024,608 (GRCm39)	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,947,772 (GRCm39)	L529H	probably damaging	Het
Negr1	T	C	3: 156,914,023 (GRCm39)		probably benign	Het
Neurog3	A	G	10: 61,969,599 (GRCm39)	T25A	probably damaging	Het
Or10v1	T	C	19: 11,874,126 (GRCm39)	V247A	probably benign	Het
Or4a69	T	A	2: 89,313,100 (GRCm39)	K126N	probably damaging	Het
Or51h1	A	C	7: 102,308,685 (GRCm39)	Y219S	probably damaging	Het
Or5k17	T	C	16: 58,746,455 (GRCm39)	T160A	probably benign	Het
Pax8	T	A	2: 24,333,201 (GRCm39)		probably benign	Het
Pcsk6	A	C	7: 65,581,480 (GRCm39)	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,404,942 (GRCm39)	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,852,996 (GRCm39)		probably benign	Het
Rbck1	G	A	2: 152,160,653 (GRCm39)	Q428*	probably null	Het
Rptor	A	G	11: 119,689,666 (GRCm39)	D321G	probably null	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Skp1	T	C	11: 52,134,446 (GRCm39)	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,105,200 (GRCm39)	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850 (GRCm38)	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,797,802 (GRCm39)	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,183,874 (GRCm39)	A472V	probably damaging	Het
Spmap1	A	G	11: 97,662,441 (GRCm39)	S144P	probably damaging	Het
Srsf6	T	C	2: 162,773,643 (GRCm39)	I18T	probably damaging	Het
Stom	C	T	2: 35,213,758 (GRCm39)	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028 (GRCm39)	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,150,361 (GRCm39)	V449I	probably benign	Het
Triobp	C	T	15: 78,851,295 (GRCm39)	A483V	probably benign	Het
Vdac1	G	A	11: 52,265,799 (GRCm39)		probably null	Het
Vmn2r75	T	G	7: 85,815,494 (GRCm39)	E123D	probably benign	Het
Vmn2r79	T	A	7: 86,653,319 (GRCm39)	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,345,750 (GRCm39)	N1376K	possibly damaging	Het
Zeb1os1	T	C	18: 5,525,375 (GRCm39)		noncoding transcript	Het

Other mutations in Ddx52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Ddx52	APN	11	83,843,057 (GRCm39)	missense	probably damaging	0.99
IGL02309:Ddx52	APN	11	83,839,304 (GRCm39)	missense	probably damaging	1.00
R0306:Ddx52	UTSW	11	83,835,474 (GRCm39)	missense	probably benign	0.22
R1636:Ddx52	UTSW	11	83,846,169 (GRCm39)	missense	probably damaging	1.00
R1641:Ddx52	UTSW	11	83,834,269 (GRCm39)	critical splice donor site	probably null
R1803:Ddx52	UTSW	11	83,836,958 (GRCm39)	missense	probably damaging	0.98
R1834:Ddx52	UTSW	11	83,850,323 (GRCm39)	missense	probably benign	0.03
R2037:Ddx52	UTSW	11	83,835,432 (GRCm39)	missense	probably benign
R4716:Ddx52	UTSW	11	83,846,031 (GRCm39)	critical splice donor site	probably null
R5774:Ddx52	UTSW	11	83,836,960 (GRCm39)	missense	probably damaging	1.00
R5807:Ddx52	UTSW	11	83,840,508 (GRCm39)	missense	probably benign	0.00
R5972:Ddx52	UTSW	11	83,844,051 (GRCm39)	critical splice acceptor site	probably null
R6132:Ddx52	UTSW	11	83,850,283 (GRCm39)	missense	possibly damaging	0.76
R6525:Ddx52	UTSW	11	83,844,145 (GRCm39)	critical splice donor site	probably null
R6747:Ddx52	UTSW	11	83,846,128 (GRCm39)	missense	probably damaging	1.00
R7250:Ddx52	UTSW	11	83,835,392 (GRCm39)	missense	probably benign
R7884:Ddx52	UTSW	11	83,842,911 (GRCm39)	splice site	probably null
R8277:Ddx52	UTSW	11	83,845,940 (GRCm39)	missense	probably damaging	1.00
R9315:Ddx52	UTSW	11	83,837,033 (GRCm39)	missense	probably benign	0.02
R9385:Ddx52	UTSW	11	83,843,096 (GRCm39)	missense	probably damaging	1.00
R9420:Ddx52	UTSW	11	83,833,008 (GRCm39)	missense	probably damaging	1.00
R9677:Ddx52	UTSW	11	83,836,946 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- ACTGCGTCTCTTGGGAATCTAG -3'
(R):5'- CTGGAAGATGGCTCAGCAGTTAAG -3'

Sequencing Primer
(F):5'- CGTCTCTTGGGAATCTAGAATGG -3'
(R):5'- AGGTTAGCCTGGTCTACACAG -3'

Posted On

2015-09-24