Mutagenetix > Incidental Mutation

Incidental Mutation 'R2134:Ddx47'

233628

Institutional Source

Beutler Lab

Gene Symbol

Ddx47

Ensembl Gene

ENSMUSG00000030204

Gene Name

DEAD box helicase 47

Synonyms

4930588A18Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 47

MMRRC Submission

040137-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2134 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134988575-135000739 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 134992313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 113 (E113*)

Ref Sequence

ENSEMBL: ENSMUSP00000145463 (fasta)

Gene Model

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

AlphaFold

Q9CWX9

Predicted Effect

probably null
Transcript: ENSMUST00000032326
AA Change: E113*

SMART Domains

Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: E113*

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 null
Transcript: ENSMUST00000154558
AA Change: E109*

SMART Domains

Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204
AA Change: E109*

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

probably benign
Transcript: ENSMUST00000155022

Predicted Effect

probably null
Transcript: ENSMUST00000204646
AA Change: E112*

Predicted Effect

probably null
Transcript: ENSMUST00000205055
AA Change: E113*

SMART Domains

Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204
AA Change: E113*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155698

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,921,743 (GRCm39)	V1437E	probably null	Het
Adam12	G	A	7: 133,614,017 (GRCm39)	R80*	probably null	Het
Adgrb3	G	T	1: 25,133,038 (GRCm39)	F479L	probably damaging	Het
Atf7ip	T	A	6: 136,582,485 (GRCm39)	V1165E	possibly damaging	Het
Atm	C	T	9: 53,379,264 (GRCm39)		probably null	Het
Atp11c	A	G	X: 59,322,143 (GRCm39)	Y593H	probably damaging	Het
Btnl1	A	G	17: 34,604,608 (GRCm39)	D463G	possibly damaging	Het
Cdc34b	T	G	11: 94,633,252 (GRCm39)	W151G	probably damaging	Het
Cdkal1	A	G	13: 29,538,660 (GRCm39)	S500P	possibly damaging	Het
Cenpf	T	C	1: 189,390,839 (GRCm39)	N998D	probably benign	Het
Ces2e	T	A	8: 105,659,171 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,753,147 (GRCm39)	Q548R	probably damaging	Het
Chfr	T	A	5: 110,292,627 (GRCm39)		probably null	Het
Clu	A	G	14: 66,212,290 (GRCm39)		probably null	Het
Cntnap5c	A	G	17: 58,714,717 (GRCm39)	D1235G	probably damaging	Het
Col6a4	T	C	9: 105,943,860 (GRCm39)	S1205G	probably benign	Het
Dock4	A	G	12: 40,795,667 (GRCm39)	Y828C	probably benign	Het
Dync1h1	T	A	12: 110,623,065 (GRCm39)	N3553K	possibly damaging	Het
Egflam	C	T	15: 7,263,760 (GRCm39)	C730Y	probably damaging	Het
Fam83b	T	C	9: 76,398,298 (GRCm39)	Y935C	probably damaging	Het
Fam83g	A	G	11: 61,594,510 (GRCm39)	I681M	probably benign	Het
Fastk	T	C	5: 24,650,139 (GRCm39)	R3G	probably damaging	Het
Fxr1	A	T	3: 34,112,196 (GRCm39)	E367D	probably damaging	Het
Gatb	A	G	3: 85,518,677 (GRCm39)	D261G	probably damaging	Het
Gm5617	T	C	9: 48,407,117 (GRCm39)	S84P	possibly damaging	Het
Hecw1	C	T	13: 14,552,285 (GRCm39)	E104K	probably damaging	Het
Il31ra	T	C	13: 112,680,422 (GRCm39)	K265R	possibly damaging	Het
Khsrp	GTCATT	GT	17: 57,331,410 (GRCm39)		probably null	Het
Lrp2	T	A	2: 69,341,411 (GRCm39)	D923V	probably damaging	Het
Ltn1	A	G	16: 87,179,601 (GRCm39)	L1520P	probably damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map1s	T	G	8: 71,366,526 (GRCm39)	V477G	probably benign	Het
Mical1	T	C	10: 41,358,708 (GRCm39)	L542P	probably damaging	Het
Mtcl3	T	A	10: 29,072,395 (GRCm39)	Y562*	probably null	Het
Mycbp2	T	C	14: 103,446,329 (GRCm39)	Y1800C	probably damaging	Het
Mylk	A	T	16: 34,806,846 (GRCm39)	D1697V	probably benign	Het
Nlrp1a	A	T	11: 71,015,014 (GRCm39)	F79I	probably benign	Het
Or52d3	T	C	7: 104,228,848 (GRCm39)		probably benign	Het
Pde9a	A	G	17: 31,605,284 (GRCm39)	Y6C	probably damaging	Het
Plxnd1	A	T	6: 115,934,509 (GRCm39)	I1808N	probably damaging	Het
Ppp1r13b	T	A	12: 111,800,167 (GRCm39)	T537S	probably benign	Het
Ppp2r2a	A	G	14: 67,253,924 (GRCm39)	F415L	possibly damaging	Het
Rabgap1	C	T	2: 37,453,499 (GRCm39)	R976*	probably null	Het
Rbfox3	T	C	11: 118,387,842 (GRCm39)	H195R	probably damaging	Het
Ripk4	A	T	16: 97,544,933 (GRCm39)	D571E	probably damaging	Het
Sdhaf4	T	A	1: 24,044,634 (GRCm39)	R16S	probably benign	Het
Slc17a1	G	T	13: 24,059,658 (GRCm39)	G130*	probably null	Het
Slc6a1	G	T	6: 114,278,977 (GRCm39)	A23S	probably benign	Het
Slco1a8	T	C	6: 141,926,704 (GRCm39)	I541V	probably damaging	Het
Spock1	T	A	13: 57,583,952 (GRCm39)	Q321L	probably damaging	Het
Syne2	A	G	12: 75,999,560 (GRCm39)	I2318V	probably damaging	Het
Terf2ip	T	C	8: 112,738,271 (GRCm39)	V53A	possibly damaging	Het
Thrb	T	C	14: 18,033,487 (GRCm38)	F403L	probably benign	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,787 (GRCm39)	K251R	probably benign	Het
Vmn2r111	T	C	17: 22,792,085 (GRCm39)	E57G	possibly damaging	Het
Vmn2r114	T	A	17: 23,510,737 (GRCm39)	Y581F	probably damaging	Het
Vps13d	A	G	4: 144,874,909 (GRCm39)	V1866A	probably benign	Het
Washc5	A	T	15: 59,241,083 (GRCm39)	F84Y	probably damaging	Het
Yars1	T	A	4: 129,090,992 (GRCm39)	Y28*	probably null	Het
Zfp638	A	G	6: 83,905,964 (GRCm39)	Y43C	probably damaging	Het
Zfp750	T	A	11: 121,404,758 (GRCm39)	H39L	probably damaging	Het
Zfr2	C	A	10: 81,078,735 (GRCm39)	S322R	probably damaging	Het
Zzef1	A	G	11: 72,771,450 (GRCm39)	D1644G	probably benign	Het

Other mutations in Ddx47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02719:Ddx47	APN	6	134,994,114 (GRCm39)	missense	probably benign	0.06
PIT4466001:Ddx47	UTSW	6	134,992,803 (GRCm39)	missense	probably benign	0.31
R0304:Ddx47	UTSW	6	134,994,183 (GRCm39)	missense	possibly damaging	0.62
R0617:Ddx47	UTSW	6	134,994,085 (GRCm39)	missense	probably damaging	1.00
R1223:Ddx47	UTSW	6	134,989,277 (GRCm39)	missense	possibly damaging	0.70
R1468:Ddx47	UTSW	6	134,988,703 (GRCm39)	splice site	probably benign
R2005:Ddx47	UTSW	6	134,995,084 (GRCm39)	missense	probably benign	0.06
R2993:Ddx47	UTSW	6	134,995,944 (GRCm39)	missense	probably damaging	1.00
R3714:Ddx47	UTSW	6	134,996,025 (GRCm39)	missense	probably damaging	1.00
R4352:Ddx47	UTSW	6	134,995,018 (GRCm39)	missense	probably benign	0.38
R4355:Ddx47	UTSW	6	134,998,468 (GRCm39)	missense	probably benign
R4495:Ddx47	UTSW	6	134,998,429 (GRCm39)	missense	possibly damaging	0.62
R4664:Ddx47	UTSW	6	134,989,319 (GRCm39)	missense	possibly damaging	0.95
R5527:Ddx47	UTSW	6	134,988,657 (GRCm39)	missense	probably benign	0.35
R6119:Ddx47	UTSW	6	135,000,318 (GRCm39)	missense	probably benign
R7038:Ddx47	UTSW	6	135,000,336 (GRCm39)	missense	possibly damaging	0.84
R7270:Ddx47	UTSW	6	135,000,301 (GRCm39)	missense	probably benign	0.08
R8855:Ddx47	UTSW	6	135,000,356 (GRCm39)	missense	probably benign	0.06
R8866:Ddx47	UTSW	6	135,000,356 (GRCm39)	missense	probably benign	0.06
X0026:Ddx47	UTSW	6	135,000,352 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCTCAGAGTGCCTTTCTTTG -3'
(R):5'- TTCTCAGTGAGCACCTTCAAGC -3'

Sequencing Primer
(F):5'- GCTCAGAGTGCCTTTCTTTGTAAAAG -3'
(R):5'- GTGAGCACCTTCAAGCCAATATTAG -3'

Posted On

2014-10-01