Mutagenetix > Incidental Mutation

Incidental Mutation 'R9315:Ddx52'

705854

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R9315 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83832888-83853914 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83837033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 175 (S175T)

Ref Sequence

ENSEMBL: ENSMUSP00000048802 (fasta)

Gene Model

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

AlphaFold

Q8K301

Predicted Effect

probably benign
Transcript: ENSMUST00000049257
AA Change: S175T

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677
AA Change: S175T

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

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	T	11: 94,265,576 (GRCm39)	R153H	possibly damaging	Het
Ankrd17	G	A	5: 90,398,360 (GRCm39)	S1730L	probably damaging	Het
Ano3	T	C	2: 110,528,287 (GRCm39)	E509G	probably damaging	Het
Cacna2d4	G	T	6: 119,213,670 (GRCm39)	A30S	probably benign	Het
Clec4e	A	G	6: 123,263,214 (GRCm39)	S109P	probably damaging	Het
Coa7	T	A	4: 108,195,581 (GRCm39)	L170Q	probably benign	Het
Col1a2	T	A	6: 4,540,544 (GRCm39)	I1334N	unknown	Het
Col6a3	A	G	1: 90,738,979 (GRCm39)		probably null	Het
Cyp2j6	A	G	4: 96,420,035 (GRCm39)	I232T	probably benign	Het
Dnah11	G	A	12: 118,143,341 (GRCm39)	S434F	probably benign	Het
Epn1	T	C	7: 5,096,339 (GRCm39)	V211A	probably benign	Het
Fads2b	C	A	2: 85,319,188 (GRCm39)	K371N	probably benign	Het
Glb1	A	G	9: 114,285,548 (GRCm39)	N429S	probably benign	Het
Ifng	A	T	10: 118,278,588 (GRCm39)	D83V	probably damaging	Het
Ints4	A	G	7: 97,156,840 (GRCm39)		probably benign	Het
Lamb2	C	T	9: 108,364,366 (GRCm39)	R1102W	possibly damaging	Het
Ldlr	T	A	9: 21,644,782 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,760,911 (GRCm39)	V4992A	probably benign	Het
Mrc1	T	A	2: 14,248,969 (GRCm39)	C168*	probably null	Het
Msantd5f3	A	T	4: 73,575,280 (GRCm39)	R320*	probably null	Het
Mug1	T	A	6: 121,850,730 (GRCm39)	V742D	possibly damaging	Het
Mxd1	T	C	6: 86,627,926 (GRCm39)	D204G	probably damaging	Het
Myo9b	C	A	8: 71,801,811 (GRCm39)	A1322D	possibly damaging	Het
Nepn	T	A	10: 52,267,869 (GRCm39)	I45N	probably benign	Het
Or13a22	T	C	7: 140,072,935 (GRCm39)	I128T	probably damaging	Het
Or14c46	A	T	7: 85,918,495 (GRCm39)	C167*	probably null	Het
Or4d5	T	C	9: 40,012,270 (GRCm39)	D172G	probably benign	Het
Paip1	A	G	13: 119,586,516 (GRCm39)	E271G	probably benign	Het
Pcnx2	T	C	8: 126,614,119 (GRCm39)	N444S	probably benign	Het
Pdcd6ip	T	C	9: 113,488,921 (GRCm39)	T705A	possibly damaging	Het
Pik3r1	A	G	13: 101,894,166 (GRCm39)	M1T	probably null	Het
Rab33b	T	G	3: 51,401,000 (GRCm39)	V158G	probably damaging	Het
Rab6a	A	G	7: 100,281,017 (GRCm39)	I120V	probably benign	Het
Radil	G	T	5: 142,474,254 (GRCm39)	H731N	probably damaging	Het
Rbm4b	T	C	19: 4,812,028 (GRCm39)	S146P	probably damaging	Het
Rrn3	T	C	16: 13,606,690 (GRCm39)	Y99H	probably benign	Het
Saxo4	T	A	19: 10,458,767 (GRCm39)	S88C	probably damaging	Het
Syne1	G	T	10: 5,283,553 (GRCm39)	T1504K	possibly damaging	Het
Tas1r2	A	G	4: 139,381,046 (GRCm39)	Y56C	possibly damaging	Het
Tmprss3	T	C	17: 31,403,644 (GRCm39)	I386V	probably null	Het
Tns1	A	G	1: 73,980,141 (GRCm39)	C11R		Het
Wdr11	A	G	7: 129,208,264 (GRCm39)	T340A	probably benign	Het
Zbtb49	A	G	5: 38,358,082 (GRCm39)	S724P	probably benign	Het
Zfp446	A	G	7: 12,713,397 (GRCm39)	K221R	probably benign	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
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
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'- CTGCTGTCGGAAAGCATCTGAG -3'
(R):5'- GCAAACACTTGAGATGGGCC -3'

Sequencing Primer
(F):5'- CGGAAAGCATCTGAGATTGTTGTTAC -3'
(R):5'- CACTTGAGATGGGCCTTCAATCAG -3'

Posted On

2022-03-25