Mutagenetix > Incidental Mutation

Incidental Mutation 'R5807:Ddx52'

448602

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

043393-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5807 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83832888-83853914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83840508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 284 (S284A)

Ref Sequence

ENSEMBL: ENSMUSP00000048802 (fasta)

Gene Model

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

AlphaFold

Q8K301

Predicted Effect

probably benign
Transcript: ENSMUST00000049257
AA Change: S284A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677
AA Change: S284A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130982

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,342,651 (GRCm39)	L943P	probably damaging	Het
Abcg5	C	A	17: 84,979,719 (GRCm39)	V214F	probably damaging	Het
Ang	T	A	14: 51,338,886 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,523,546 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,846,696 (GRCm39)		probably benign	Het
Atp11b	T	C	3: 35,866,428 (GRCm39)	I409T	probably damaging	Het
Atp5f1b	G	A	10: 127,924,431 (GRCm39)		probably benign	Het
Atp9a	G	A	2: 168,495,454 (GRCm39)	A660V	probably damaging	Het
Avpr1a	A	G	10: 122,285,376 (GRCm39)	T223A	probably benign	Het
Bmp2k	T	C	5: 97,211,353 (GRCm39)	M507T	unknown	Het
Cep295	A	G	9: 15,243,828 (GRCm39)	S287P	probably damaging	Het
Chrna7	T	A	7: 62,798,349 (GRCm39)	D111V	probably damaging	Het
Clxn	A	T	16: 14,734,836 (GRCm39)	I69F	probably benign	Het
Cnr2	A	G	4: 135,644,747 (GRCm39)	D275G	probably benign	Het
Col28a1	T	A	6: 8,158,144 (GRCm39)	M305L	probably benign	Het
Cpb1	T	A	3: 20,317,906 (GRCm39)	D206V	probably damaging	Het
Cyp2c50	T	C	19: 40,101,944 (GRCm39)	L453S	probably damaging	Het
Eif2ak4	G	T	2: 118,219,332 (GRCm39)	R48L	probably benign	Het
Esrrb	A	G	12: 86,561,175 (GRCm39)	E303G	possibly damaging	Het
Fbxo21	A	G	5: 118,114,933 (GRCm39)	E23G	probably benign	Het
Fcamr	T	C	1: 130,739,263 (GRCm39)	S188P	probably damaging	Het
Fer1l6	C	A	15: 58,462,399 (GRCm39)	S818*	probably null	Het
Fn1	T	C	1: 71,687,218 (GRCm39)	D213G	probably damaging	Het
Gcg	A	G	2: 62,306,069 (GRCm39)	I176T	possibly damaging	Het
Glis1	T	A	4: 107,425,279 (GRCm39)	S109T	probably benign	Het
Gm266	T	C	12: 111,452,173 (GRCm39)	D11G	probably benign	Het
Gm5070	C	A	3: 95,317,965 (GRCm39)		noncoding transcript	Het
Gm8444	T	C	15: 81,727,654 (GRCm39)		probably benign	Het
Golga4	A	G	9: 118,356,198 (GRCm39)	T117A	probably damaging	Het
Gpr132	G	A	12: 112,816,416 (GRCm39)	R137C	probably damaging	Het
Gvin-ps5	T	A	7: 105,929,430 (GRCm39)		noncoding transcript	Het
Herc2	T	A	7: 55,880,667 (GRCm39)	F4766L	probably damaging	Het
Inhbc	C	A	10: 127,193,411 (GRCm39)	E202*	probably null	Het
Kcnu1	C	T	8: 26,339,742 (GRCm39)	T20I	possibly damaging	Het
Klhdc3	T	C	17: 46,988,391 (GRCm39)	D161G	probably damaging	Het
Krt84	T	A	15: 101,438,647 (GRCm39)	K280M	probably damaging	Het
Krtap9-5	T	A	11: 99,839,895 (GRCm39)	C199S	unknown	Het
Mrgprb3	A	G	7: 48,293,110 (GRCm39)	V147A	probably benign	Het
Ndufs6	A	T	13: 73,475,553 (GRCm39)	F48L	probably damaging	Het
Obscn	T	C	11: 58,970,476 (GRCm39)	S2586G	probably damaging	Het
Or10n1	A	G	9: 39,525,759 (GRCm39)	R299G	probably benign	Het
Or13c7b	C	A	4: 43,820,912 (GRCm39)	V150L	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Osbpl6	A	G	2: 76,414,857 (GRCm39)	D416G	probably damaging	Het
Pdilt	A	G	7: 119,099,766 (GRCm39)		probably benign	Het
Phf12	C	A	11: 77,913,252 (GRCm39)	D401E	probably benign	Het
Pla2r1	C	T	2: 60,259,065 (GRCm39)	V1108M	possibly damaging	Het
Prim2	A	G	1: 33,519,487 (GRCm39)		probably benign	Het
Ptpn6	T	C	6: 124,701,947 (GRCm39)	H406R	probably benign	Het
Qpctl	G	T	7: 18,877,132 (GRCm39)	H329N	probably damaging	Het
Ripk3	T	A	14: 56,022,755 (GRCm39)	N390Y	probably damaging	Het
Rnase1	A	G	14: 51,382,907 (GRCm39)	V149A	probably benign	Het
Rtn3	T	A	19: 7,434,192 (GRCm39)	D581V	probably damaging	Het
Slamf1	A	G	1: 171,602,630 (GRCm39)	Y119C	probably damaging	Het
Slc25a34	A	G	4: 141,350,973 (GRCm39)	M12T	probably benign	Het
Tmem38a	A	G	8: 73,333,944 (GRCm39)	Y141C	probably damaging	Het
Tnr	C	T	1: 159,714,500 (GRCm39)	T793I	possibly damaging	Het
Tns3	T	C	11: 8,443,211 (GRCm39)	D384G	probably damaging	Het
Vmn2r116	T	A	17: 23,606,281 (GRCm39)	Y398N	probably damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	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
R4592:Ddx52	UTSW	11	83,848,306 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGGTTGGTAATAGGGACACC -3'
(R):5'- GGAAGAAAGTCTATGTTCAGCTTCC -3'

Sequencing Primer
(F):5'- TTGGTAATAGGGACACCAAAGGC -3'
(R):5'- CTAGCACTACATAACCTGGATGTGG -3'

Posted On

2016-12-15