Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Ddx6'

578565

Institutional Source

Beutler Lab

Gene Symbol

Ddx6

Ensembl Gene

ENSMUSG00000032097

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 6

Synonyms

mRCK/P54, HLR2, rck, C430015D01Rik, 1110001P04Rik, p54, E230023J21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44604892-44640731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44628729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 318 (E318G)

Ref Sequence

ENSEMBL: ENSMUSP00000149620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170489] [ENSMUST00000217034]

AlphaFold

P54823

Predicted Effect

probably damaging
Transcript: ENSMUST00000170489
AA Change: E318G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128421
Gene: ENSMUSG00000032097
AA Change: E318G

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
Blast:DEXDc	42	88	7e-18	BLAST
DEXDc	115	312	3.67e-52	SMART
HELICc	348	429	1.59e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000217034
AA Change: E318G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.5568

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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. The protein is an RNA helicase found in P-bodies and stress granules, and functions in translation suppression and mRNA degradation. It is required for microRNA-induced gene silencing. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	Het

Other mutations in Ddx6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02561:Ddx6	APN	9	44634168	missense	probably damaging	0.96
IGL02880:Ddx6	APN	9	44612897	splice site	probably benign
R0278:Ddx6	UTSW	9	44631425	missense	probably damaging	1.00
R1330:Ddx6	UTSW	9	44627773	splice site	probably benign
R2001:Ddx6	UTSW	9	44607534	missense	probably benign
R2002:Ddx6	UTSW	9	44607534	missense	probably benign
R2124:Ddx6	UTSW	9	44624519	nonsense	probably null
R2177:Ddx6	UTSW	9	44627731	missense	probably damaging	1.00
R2347:Ddx6	UTSW	9	44607591	missense	probably benign	0.00
R2863:Ddx6	UTSW	9	44614256	missense	probably damaging	1.00
R2865:Ddx6	UTSW	9	44614256	missense	probably damaging	1.00
R4584:Ddx6	UTSW	9	44624487	missense	probably damaging	1.00
R4915:Ddx6	UTSW	9	44612873	missense	probably damaging	1.00
R5476:Ddx6	UTSW	9	44607456	missense	possibly damaging	0.67
R6213:Ddx6	UTSW	9	44628693	missense	probably damaging	0.99
R6264:Ddx6	UTSW	9	44628752	missense	probably damaging	1.00
R6368:Ddx6	UTSW	9	44635776	missense	probably damaging	1.00
R6525:Ddx6	UTSW	9	44623629	missense	probably damaging	1.00
R6994:Ddx6	UTSW	9	44628723	missense	probably damaging	0.98
R7252:Ddx6	UTSW	9	44623753	splice site	probably null
R7706:Ddx6	UTSW	9	44627642	missense	probably damaging	1.00
R7752:Ddx6	UTSW	9	44627663	missense	probably damaging	1.00
R7784:Ddx6	UTSW	9	44630142	critical splice donor site	probably null
RF004:Ddx6	UTSW	9	44624492	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- GATTCATCCTTTAGAGCAAGAGAC -3'
(R):5'- AAGCACCTGTGTCAATCAGTTTC -3'

Sequencing Primer
(F):5'- AATGACTGTGTTCCCTCC -3'
(R):5'- GTTTCAACTGTAAGCCAATTAAAGC -3'

Posted On

2019-10-07