Mutagenetix > Incidental Mutation

Incidental Mutation 'R4352:Ddx47'

327338

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

041668-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134988575-135000739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 134995018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 161 (T161I)

Ref Sequence

ENSEMBL: ENSMUSP00000145463 (fasta)

Gene Model

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

AlphaFold

Q9CWX9

Predicted Effect

probably benign
Transcript: ENSMUST00000032326
AA Change: T252I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: T252I

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
AA Change: T70I

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115183
Gene: ENSMUSG00000030204
AA Change: T70I

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

probably benign
Transcript: ENSMUST00000155022

Predicted Effect

unknown
Transcript: ENSMUST00000204646
AA Change: T227I

Predicted Effect

probably benign
Transcript: ENSMUST00000205055
AA Change: T161I

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204
AA Change: T161I

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155277

Meta Mutation Damage Score

0.0611

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

96% (79/82)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Abtb2	T	A	2: 103,513,738 (GRCm39)	D382E	possibly damaging	Het
Adamts1	T	A	16: 85,599,234 (GRCm39)	D122V	probably benign	Het
Ankrd54	A	T	15: 78,939,662 (GRCm39)	F176I	probably benign	Het
Ano3	T	A	2: 110,576,239 (GRCm39)	E94V	possibly damaging	Het
Arid1b	A	T	17: 5,147,859 (GRCm39)	Q587L	possibly damaging	Het
Atg2a	G	A	19: 6,307,487 (GRCm39)	V1474M	probably benign	Het
Bcl2a1d	A	G	9: 88,613,552 (GRCm39)	V74A	probably damaging	Het
Bmper	A	G	9: 23,395,248 (GRCm39)	I660V	probably benign	Het
Cdh20	A	G	1: 104,906,814 (GRCm39)	D547G	probably damaging	Het
Cds2	T	A	2: 132,105,365 (GRCm39)	M1K	probably null	Het
Ctr9	T	A	7: 110,648,525 (GRCm39)	Y722N	probably damaging	Het
Dvl3	T	C	16: 20,344,394 (GRCm39)	Y257H	possibly damaging	Het
Dzip1	T	C	14: 119,120,938 (GRCm39)	D673G	probably benign	Het
Efcab3	T	A	11: 104,630,140 (GRCm39)	L957Q	probably null	Het
Emilin2	T	C	17: 71,587,726 (GRCm39)	M129V	probably benign	Het
Eml1	A	T	12: 108,501,096 (GRCm39)		probably benign	Het
Espnl	A	T	1: 91,262,443 (GRCm39)	D296V	probably damaging	Het
Fam161a	T	G	11: 22,970,798 (GRCm39)	S109R	possibly damaging	Het
Fat3	T	G	9: 16,158,074 (GRCm39)	T1179P	possibly damaging	Het
Gfra1	A	T	19: 58,255,456 (GRCm39)	N330K	probably benign	Het
Gfy	T	C	7: 44,827,040 (GRCm39)	E352G	probably benign	Het
Gm20775	A	T	Y: 10,641,648 (GRCm39)		noncoding transcript	Het
Gm5885	T	A	6: 133,508,152 (GRCm39)		noncoding transcript	Het
Gpatch11	T	C	17: 79,148,446 (GRCm39)	L128P	probably damaging	Het
H2-Q1	A	G	17: 35,539,919 (GRCm39)	N63D	possibly damaging	Het
Itgb2	A	T	10: 77,392,001 (GRCm39)	N358I	probably benign	Het
Jmjd1c	A	G	10: 67,080,588 (GRCm39)	T2247A	probably damaging	Het
Kcnma1	T	A	14: 23,361,720 (GRCm39)	K1036I	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lrch1	G	T	14: 75,056,018 (GRCm39)	S278R	probably damaging	Het
Lrp2	C	A	2: 69,262,526 (GRCm39)		probably null	Het
Lyn	G	A	4: 3,789,796 (GRCm39)	R443H	probably damaging	Het
Mecom	C	A	3: 30,020,887 (GRCm39)	V452L	possibly damaging	Het
Mpzl1	G	A	1: 165,433,376 (GRCm39)	Q36*	probably null	Het
Msantd5	A	G	11: 51,125,646 (GRCm39)	N190D	possibly damaging	Het
Npr2	T	C	4: 43,646,592 (GRCm39)	S647P	probably damaging	Het
Nrp2	A	G	1: 62,777,576 (GRCm39)	D127G	probably damaging	Het
Otogl	A	T	10: 107,705,396 (GRCm39)	C644S	probably damaging	Het
Pabpc4	C	T	4: 123,184,060 (GRCm39)	T191I	probably damaging	Het
Paqr3	T	C	5: 97,247,455 (GRCm39)	T218A	probably benign	Het
Pcdh7	C	T	5: 57,879,361 (GRCm39)	S972L	possibly damaging	Het
Pcnx2	T	C	8: 126,489,590 (GRCm39)	H1668R	probably damaging	Het
Prb1b	T	G	6: 132,290,624 (GRCm39)	Y25S	unknown	Het
Ralb	A	G	1: 119,411,282 (GRCm39)	M19T	probably benign	Het
Rcan1	A	G	16: 92,190,384 (GRCm39)	I185T	probably benign	Het
Rnf38	A	T	4: 44,149,100 (GRCm39)	N82K	possibly damaging	Het
Rock1	T	A	18: 10,079,237 (GRCm39)	Q1077L	probably damaging	Het
Sesn3	C	T	9: 14,231,669 (GRCm39)	A200V	probably damaging	Het
Shh	T	C	5: 28,663,187 (GRCm39)	E327G	probably benign	Het
Shmt2	G	A	10: 127,354,686 (GRCm39)	A333V	probably damaging	Het
Slc15a2	T	A	16: 36,592,390 (GRCm39)	I256F	probably benign	Het
Sptbn5	T	C	2: 119,913,680 (GRCm39)		noncoding transcript	Het
Sst	A	G	16: 23,708,565 (GRCm39)	S89P	probably damaging	Het
Taf10	A	G	7: 105,392,614 (GRCm39)		probably benign	Het
Tas2r139	T	A	6: 42,118,689 (GRCm39)	W274R	probably damaging	Het
Tbc1d20	T	A	2: 152,150,114 (GRCm39)		probably benign	Het
Tbc1d5	A	G	17: 51,089,429 (GRCm39)	S584P	probably damaging	Het
Tcstv1a	T	C	13: 120,355,407 (GRCm39)	D75G	probably damaging	Het
Tex10	T	G	4: 48,452,039 (GRCm39)	T696P	possibly damaging	Het
Tgfbr1	T	C	4: 47,402,863 (GRCm39)	F206S	probably damaging	Het
Tmem241	A	T	18: 12,246,496 (GRCm39)	H51Q	probably benign	Het
Trim5	A	T	7: 103,926,015 (GRCm39)	V182D	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Ugp2	C	T	11: 21,279,026 (GRCm39)	V387I	probably damaging	Het
Unc45b	G	A	11: 82,804,035 (GRCm39)	D71N	probably damaging	Het
Usp34	A	T	11: 23,270,727 (GRCm39)	Y37F	possibly damaging	Het
Zfp943	A	T	17: 22,212,104 (GRCm39)	I397F	probably damaging	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
R2134:Ddx47	UTSW	6	134,992,313 (GRCm39)	nonsense	probably null
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
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'- GTTTGGCAATCAGGAAGTACAG -3'
(R):5'- ACCGACACAGGGTTTGCTTC -3'

Sequencing Primer
(F):5'- CCTCTGATAGTTGTGCCAACAAGG -3'
(R):5'- CAGGGTTTGCTTCCTGTAAAGAACTC -3'

Posted On

2015-07-07