Mutagenetix > Incidental Mutations

Incidental Mutation 'R1468:Ddx47'

197716

Institutional Source

Beutler Lab

Gene Symbol

Ddx47

Ensembl Gene

ENSMUSG00000030204

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 47

Synonyms

MMRRC Submission

039521-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1468 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135011612-135023776 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 135011740 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032326] [ENSMUST00000130851] [ENSMUST00000205055] [ENSMUST00000205244]

Predicted Effect

probably benign
Transcript: ENSMUST00000032326

SMART Domains

Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204

Domain	Start	End	E-Value	Type
low complexity region	16	23	N/A	INTRINSIC
DEXDc	43	241	6.38e-61	SMART
HELICc	277	358	8.21e-32	SMART
low complexity region	413	437	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123022

Predicted Effect

probably benign
Transcript: ENSMUST00000130851

SMART Domains

Protein: ENSMUSP00000115183
Gene: ENSMUSG00000030204

Domain	Start	End	E-Value	Type
low complexity region	16	23	N/A	INTRINSIC
Blast:DEXDc	30	59	9e-12	BLAST
Pfam:Helicase_C	99	138	2.3e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134549

Predicted Effect

probably benign
Transcript: ENSMUST00000154558

SMART Domains

Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204

Domain	Start	End	E-Value	Type
low complexity region	13	20	N/A	INTRINSIC
DEXDc	40	238	6.38e-61	SMART
HELICc	229	306	3.67e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155698

Predicted Effect

probably benign
Transcript: ENSMUST00000204646

Predicted Effect

probably benign
Transcript: ENSMUST00000205055

SMART Domains

Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204

Domain	Start	End	E-Value	Type
low complexity region	16	23	N/A	INTRINSIC
DEXDc	43	178	1.7e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205244

SMART Domains

Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204

Domain	Start	End	E-Value	Type
DEXDc	6	178	3e-15	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,512,580	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,907,579		probably benign	Het
5031439G07Rik	G	T	15: 84,953,144	P280T	probably damaging	Het
Abca2	C	T	2: 25,441,296	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,706,409	R719S	probably benign	Het
Adam1a	A	T	5: 121,519,776		probably null	Het
Adamts7	T	C	9: 90,188,798		probably benign	Het
Adgrf3	G	A	5: 30,202,229		probably benign	Het
Aldh6a1	T	C	12: 84,441,770	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,575,752	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,792,905	R291Q	probably benign	Het
Ano2	C	T	6: 125,796,264	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,812,566	I125T	probably benign	Het
Arid1b	A	G	17: 5,242,922	D705G	probably damaging	Het
Asb18	T	A	1: 89,996,283	N86I	probably damaging	Het
Bicral	A	T	17: 46,824,593	S564T	probably benign	Het
Bpifa6	A	G	2: 153,989,272	M253V	probably benign	Het
Braf	T	C	6: 39,665,083	D194G	probably damaging	Het
Brinp3	C	A	1: 146,901,962	P716T	probably benign	Het
C7	T	A	15: 5,012,149	Y425F	probably damaging	Het
Ccdc102a	T	C	8: 94,906,086	K421R	probably benign	Het
Cep89	G	A	7: 35,420,963		probably null	Het
Chgb	A	T	2: 132,792,800	M221L	probably benign	Het
Chst14	A	G	2: 118,927,664	Y313C	probably damaging	Het
Ciita	G	A	16: 10,513,288		probably null	Het
Clec12b	A	T	6: 129,380,640	I85N	probably damaging	Het
Clec2e	G	T	6: 129,093,496	Y187*	probably null	Het
Crbn	T	C	6: 106,790,843	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,981,281	Q201L	probably benign	Het
Ctrb1	G	T	8: 111,689,409		probably benign	Het
Cyp2c55	T	A	19: 39,011,081	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,849,395	D414E	probably damaging	Het
Dlg1	A	G	16: 31,842,822		probably null	Het
Dnah5	C	A	15: 28,230,463	S169*	probably null	Het
Dock4	C	A	12: 40,755,810	T927K	probably benign	Het
Esrp2	T	G	8: 106,133,821	D259A	probably damaging	Het
Fam169a	A	G	13: 97,118,530	K418R	probably benign	Het
Fam207a	A	G	10: 77,497,526		probably benign	Het
Fancm	A	T	12: 65,099,293	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,732,226		probably benign	Het
Fat1	G	A	8: 45,010,545	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,862,638	D486V	probably damaging	Het
Fech	C	T	18: 64,470,673		probably benign	Het
Fermt1	C	T	2: 132,925,022	E342K	probably benign	Het
Foxp1	T	A	6: 98,978,220	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,451,975	I138L	probably benign	Het
Gm12185	T	C	11: 48,915,674	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,507,231		probably benign	Het
Gpd2	A	C	2: 57,355,774	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,037,350	K20N	probably damaging	Het
Hc	A	T	2: 34,983,807	Y158*	probably null	Het
Hectd4	A	T	5: 121,349,172	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,690,412		probably null	Het
Irx4	G	T	13: 73,265,576	R55L	possibly damaging	Het
Itgav	A	T	2: 83,765,901		probably benign	Het
Lama3	T	C	18: 12,441,107	V582A	probably benign	Het
Ldhd	G	T	8: 111,627,293	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,927,829		probably null	Het
Lrp5	T	C	19: 3,620,191	T638A	possibly damaging	Het
Lrrk1	A	C	7: 66,259,974	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,566,137	S21L	probably benign	Het
Mctp1	T	C	13: 76,825,273	V431A	probably benign	Het
Metap2	C	T	10: 93,871,483		probably null	Het
Mfsd2b	T	A	12: 4,870,536	K94*	probably null	Het
Micall2	A	G	5: 139,719,342	L79P	probably damaging	Het
Mucl2	T	C	15: 103,897,407	T95A	possibly damaging	Het
Myo15	A	T	11: 60,506,006	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,740,503	V1467L	probably damaging	Het
Nfic	G	T	10: 81,420,580	D105E	probably damaging	Het
Nrd1	T	A	4: 109,016,668	F227Y	probably benign	Het
Nrp2	A	T	1: 62,738,299	I88F	probably damaging	Het
Nup160	A	T	2: 90,700,543	H515L	probably benign	Het
Nup205	G	A	6: 35,225,982		probably null	Het
Oas1g	G	A	5: 120,882,006	T179I	probably benign	Het
Ogfr	A	T	2: 180,594,750	E376V	probably damaging	Het
Olfr1212	T	G	2: 88,959,043	Y192*	probably null	Het
Olfr1241	A	T	2: 89,482,511	V208D	possibly damaging	Het
Olfr166	T	G	16: 19,487,628	S263R	probably benign	Het
Olfr478	C	T	7: 108,032,388		probably null	Het
Olfr646	G	T	7: 104,106,689	V137F	possibly damaging	Het
Pard3b	T	C	1: 62,345,029	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,478,089	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,251,666	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,523,341	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,887,593		probably benign	Het
Ptprg	A	T	14: 12,190,767	I818F	probably benign	Het
Ralgapb	A	G	2: 158,462,253	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,372,115	I127M	probably damaging	Het
Rtp2	T	C	16: 23,927,470	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,687,572		probably benign	Het
Sf3b3	A	T	8: 110,837,374	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,085,627		probably null	Het
Shkbp1	A	T	7: 27,345,326	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,322,260	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,733,199	S332P	probably damaging	Het
Slit1	C	A	19: 41,608,384	C1092F	probably damaging	Het
Stard9	A	G	2: 120,703,197	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,469,592	V185A	possibly damaging	Het
Taar9	A	T	10: 24,109,484	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,988	E102G	probably damaging	Het
Tex44	A	G	1: 86,427,112	N248D	probably benign	Het
Tmem63b	C	G	17: 45,678,978	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,850,157	V781I	probably benign	Het
Tonsl	C	T	15: 76,636,561		probably null	Het
Ttc6	A	G	12: 57,674,677	K984R	possibly damaging	Het
Usp34	A	G	11: 23,441,171	E2263G	probably damaging	Het
Usp8	A	G	2: 126,754,927	K875E	probably damaging	Het
Vapb	C	T	2: 173,762,112		probably benign	Het
Vmn1r223	A	G	13: 23,249,868	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,293,662	V796I	probably damaging	Het
Wdr90	A	T	17: 25,854,053	V856D	probably damaging	Het
Wnk2	T	A	13: 49,082,095	T615S	probably damaging	Het

Other mutations in Ddx47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02719:Ddx47	APN	6	135017151	missense	probably benign	0.06
PIT4466001:Ddx47	UTSW	6	135015840	missense	probably benign	0.31
R0304:Ddx47	UTSW	6	135017220	missense	possibly damaging	0.62
R0617:Ddx47	UTSW	6	135017122	missense	probably damaging	1.00
R1223:Ddx47	UTSW	6	135012314	missense	possibly damaging	0.70
R2005:Ddx47	UTSW	6	135018121	missense	probably benign	0.06
R2134:Ddx47	UTSW	6	135015350	nonsense	probably null
R2993:Ddx47	UTSW	6	135018981	missense	probably damaging	1.00
R3714:Ddx47	UTSW	6	135019062	missense	probably damaging	1.00
R4352:Ddx47	UTSW	6	135018055	missense	probably benign	0.38
R4355:Ddx47	UTSW	6	135021505	missense	probably benign
R4495:Ddx47	UTSW	6	135021466	missense	possibly damaging	0.62
R4664:Ddx47	UTSW	6	135012356	missense	possibly damaging	0.95
R5527:Ddx47	UTSW	6	135011694	missense	probably benign	0.35
R6119:Ddx47	UTSW	6	135023355	missense	probably benign
R7038:Ddx47	UTSW	6	135023373	missense	possibly damaging	0.84
R7270:Ddx47	UTSW	6	135023338	missense	probably benign	0.08
X0026:Ddx47	UTSW	6	135023389	missense	probably benign

Predicted Primers

Posted On

2014-05-23