Mutagenetix > Incidental Mutation

Incidental Mutation 'R0617:Ddx47'

58423

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

038806-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134988575-135000739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 134994085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 149 (V149E)

Ref Sequence

ENSEMBL: ENSMUSP00000145139 (fasta)

Gene Model

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

AlphaFold

Q9CWX9

Predicted Effect

probably damaging
Transcript: ENSMUST00000032326
AA Change: V212E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: V212E

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 damaging
Transcript: ENSMUST00000130851
AA Change: V30E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115183
Gene: ENSMUSG00000030204
AA Change: V30E

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

unknown
Transcript: ENSMUST00000154558
AA Change: V208E

SMART Domains

Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204
AA Change: V208E

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 damaging
Transcript: ENSMUST00000205055
AA Change: V121E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204
AA Change: V121E

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

Predicted Effect

unknown
Transcript: ENSMUST00000204646
AA Change: V187E

Predicted Effect

probably damaging
Transcript: ENSMUST00000205244
AA Change: V149E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204
AA Change: V149E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155698

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

98% (130/133)

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	A	T	8: 49,953,527 (GRCm39)		noncoding transcript	Het
A630073D07Rik	T	C	6: 132,603,700 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,032,834 (GRCm39)		probably benign	Het
Abca5	A	T	11: 110,170,515 (GRCm39)	D1265E	probably damaging	Het
Abcf1	C	T	17: 36,272,079 (GRCm39)	V312I	probably benign	Het
Abhd12	T	A	2: 150,688,285 (GRCm39)		probably null	Het
Adam23	A	G	1: 63,582,306 (GRCm39)	H318R	probably benign	Het
Adcy2	T	A	13: 68,826,725 (GRCm39)	K660*	probably null	Het
Adgrf3	T	C	5: 30,400,078 (GRCm39)	T972A	probably benign	Het
Adipoq	T	A	16: 22,974,160 (GRCm39)	D62E	probably damaging	Het
Alk	G	T	17: 72,910,578 (GRCm39)	P43T	probably damaging	Het
Arap2	AT	ATT	5: 62,807,250 (GRCm39)		probably benign	Het
Arhgef28	G	T	13: 98,106,863 (GRCm39)	T687K	probably benign	Het
Arrb1	T	C	7: 99,243,884 (GRCm39)	L278P	probably damaging	Het
Atad2b	C	A	12: 4,987,401 (GRCm39)	D76E	probably benign	Het
Atm	A	T	9: 53,370,241 (GRCm39)	Y2290*	probably null	Het
Atrn	T	A	2: 130,837,005 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,054,867 (GRCm39)	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,161,545 (GRCm39)	T559M	probably benign	Het
Bsn	T	C	9: 107,984,439 (GRCm39)	E3205G	unknown	Het
Cacna1c	T	C	6: 118,579,174 (GRCm39)	Y1599C	probably damaging	Het
Ccdc40	A	G	11: 119,133,630 (GRCm39)	D590G	probably damaging	Het
Ccdc68	A	G	18: 70,079,623 (GRCm39)		probably null	Het
Ccdc97	G	A	7: 25,413,845 (GRCm39)	R279C	probably damaging	Het
Ccm2l	A	G	2: 152,912,820 (GRCm39)	T120A	probably damaging	Het
Cfap54	T	C	10: 92,665,512 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,028,621 (GRCm39)	S1043P	probably benign	Het
Chil3	T	C	3: 106,063,072 (GRCm39)	K173E	probably benign	Het
Cib2	T	C	9: 54,461,780 (GRCm39)	D26G	possibly damaging	Het
Col24a1	T	C	3: 145,019,881 (GRCm39)	V84A	probably damaging	Het
Csn3	T	C	5: 88,077,730 (GRCm39)	Y79H	probably benign	Het
Dennd5b	A	T	6: 148,934,760 (GRCm39)		probably benign	Het
Desi1	T	C	15: 81,882,399 (GRCm39)	N109D	probably damaging	Het
Fam13c	T	C	10: 70,372,182 (GRCm39)		probably benign	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fanca	A	G	8: 124,014,809 (GRCm39)	F831S	probably damaging	Het
Fancm	C	T	12: 65,144,091 (GRCm39)	R518*	probably null	Het
Fat2	A	G	11: 55,202,669 (GRCm39)	V135A	possibly damaging	Het
Fbxl17	A	C	17: 63,691,987 (GRCm39)	F42V	probably damaging	Het
Fgd3	A	T	13: 49,418,173 (GRCm39)	V631E	possibly damaging	Het
Fhod3	G	A	18: 25,245,736 (GRCm39)		probably benign	Het
Focad	T	C	4: 88,039,525 (GRCm39)		probably benign	Het
Foxn4	C	A	5: 114,399,129 (GRCm39)		probably benign	Het
Gm2381	A	T	7: 42,469,402 (GRCm39)	C241S	probably damaging	Het
Gm6483	T	G	8: 19,743,725 (GRCm39)	F117V	probably damaging	Het
Hectd4	T	C	5: 121,481,295 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,455,027 (GRCm39)	Q676L	probably benign	Het
Hipk2	G	A	6: 38,724,420 (GRCm39)	R437C	possibly damaging	Het
Ifnar1	T	C	16: 91,298,570 (GRCm39)	Y396H	probably damaging	Het
Ints5	A	T	19: 8,873,383 (GRCm39)	K447N	probably damaging	Het
Iqsec1	T	C	6: 90,666,952 (GRCm39)	Y495C	probably damaging	Het
Itga5	C	T	15: 103,264,742 (GRCm39)		probably null	Het
Kcnk4	T	A	19: 6,905,528 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,474,756 (GRCm39)	T174A	possibly damaging	Het
Krt36	T	C	11: 99,993,101 (GRCm39)	D458G	probably damaging	Het
Krtap16-1	G	T	11: 99,877,321 (GRCm39)	P28T	probably damaging	Het
Lama3	T	C	18: 12,552,315 (GRCm39)		probably null	Het
Lrrc9	T	C	12: 72,529,788 (GRCm39)	S920P	probably damaging	Het
Lrrk2	A	T	15: 91,636,481 (GRCm39)	Y1485F	probably benign	Het
Mical1	C	T	10: 41,357,311 (GRCm39)	A372V	probably damaging	Het
Ms4a20	C	A	19: 11,089,764 (GRCm39)	L40F	probably damaging	Het
Mtr	C	T	13: 12,236,318 (GRCm39)	R636Q	probably benign	Het
Muc4	A	T	16: 32,570,925 (GRCm39)	T662S	possibly damaging	Het
Myo10	G	A	15: 25,738,091 (GRCm39)	V546M	probably damaging	Het
Nbeal1	G	A	1: 60,320,991 (GRCm39)	W2034*	probably null	Het
Nhlrc3	T	C	3: 53,366,044 (GRCm39)	T150A	probably damaging	Het
Nicol1	T	C	5: 34,140,896 (GRCm39)		probably benign	Het
Nkx2-1	T	C	12: 56,581,640 (GRCm39)	H69R	possibly damaging	Het
Nlrp4g	A	T	9: 124,349,540 (GRCm38)		noncoding transcript	Het
Nod2	A	G	8: 89,379,859 (GRCm39)	N120S	probably benign	Het
Nol8	T	C	13: 49,807,921 (GRCm39)	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,691,240 (GRCm39)	D308G	possibly damaging	Het
Oog3	A	T	4: 143,886,784 (GRCm39)	V112D	probably benign	Het
Or10ag58	A	G	2: 87,265,005 (GRCm39)	D58G	probably damaging	Het
Or4a66	A	G	2: 88,531,040 (GRCm39)	V211A	probably damaging	Het
Or51i1	A	T	7: 103,671,196 (GRCm39)	S110T	probably damaging	Het
Or5af2	T	C	11: 58,707,975 (GRCm39)	V47A	probably damaging	Het
Or5b106	T	C	19: 13,123,727 (GRCm39)	M99V	probably benign	Het
Or5b120	C	A	19: 13,479,900 (GRCm39)	N64K	probably damaging	Het
Or5m9b	A	G	2: 85,905,485 (GRCm39)	M134V	probably benign	Het
Or9s18	A	T	13: 65,300,692 (GRCm39)	Y218F	possibly damaging	Het
Pakap	T	C	4: 57,829,434 (GRCm39)		probably benign	Het
Pcdhb8	C	T	18: 37,490,100 (GRCm39)	R593C	probably benign	Het
Pgm3	A	G	9: 86,438,243 (GRCm39)		probably null	Het
Pirt	T	A	11: 66,816,998 (GRCm39)	V103E	probably damaging	Het
Plxnc1	T	A	10: 94,635,230 (GRCm39)	D1332V	probably damaging	Het
Ppfia4	A	T	1: 134,256,518 (GRCm39)	V122E	probably damaging	Het
Pramel14	A	G	4: 143,720,088 (GRCm39)		probably benign	Het
Prmt2	C	T	10: 76,044,517 (GRCm39)		probably benign	Het
Prrc2a	G	T	17: 35,372,536 (GRCm39)	P1702T	probably damaging	Het
Prss39	A	T	1: 34,539,279 (GRCm39)	H173L	probably damaging	Het
Rabl6	A	G	2: 25,476,878 (GRCm39)		probably null	Het
Rb1cc1	T	A	1: 6,319,014 (GRCm39)	I794K	possibly damaging	Het
Reln	T	C	5: 22,125,535 (GRCm39)	D2716G	probably damaging	Het
Sbf2	ACC	AC	7: 109,929,890 (GRCm39)		probably null	Het
Sema6d	T	A	2: 124,502,665 (GRCm39)	F583L	possibly damaging	Het
Setx	T	A	2: 29,036,819 (GRCm39)	H1101Q	possibly damaging	Het
Sis	A	G	3: 72,872,938 (GRCm39)	C67R	probably damaging	Het
Skint1	T	A	4: 111,886,596 (GRCm39)		probably benign	Het
Smg6	C	A	11: 75,053,757 (GRCm39)	T1413K	probably benign	Het
Spata31d1a	A	T	13: 59,850,073 (GRCm39)	I685N	possibly damaging	Het
Spef2	T	A	15: 9,592,844 (GRCm39)	N1499I	probably damaging	Het
Stk11ip	T	A	1: 75,508,932 (GRCm39)		probably null	Het
Stxbp1	A	C	2: 32,692,795 (GRCm39)	I407S	probably damaging	Het
Svil	T	C	18: 5,117,002 (GRCm39)	S2059P	probably damaging	Het
Syne1	C	T	10: 5,300,933 (GRCm39)	V932M	probably damaging	Het
Tacc1	A	C	8: 25,668,020 (GRCm39)		probably benign	Het
Tbc1d13	C	A	2: 30,025,576 (GRCm39)		probably benign	Het
Tbc1d15	A	C	10: 115,075,204 (GRCm39)	D59E	probably damaging	Het
Tcaf2	A	G	6: 42,619,445 (GRCm39)	F194S	probably damaging	Het
Terf2ip	T	A	8: 112,738,127 (GRCm39)	M5K	probably benign	Het
Tgfbr2	A	T	9: 115,987,388 (GRCm39)	D40E	probably benign	Het
Tm4sf5	T	A	11: 70,401,495 (GRCm39)	S165T	probably damaging	Het
Tmprss3	A	T	17: 31,412,886 (GRCm39)	C129S	probably damaging	Het
Tmx2	T	C	2: 84,502,740 (GRCm39)	D256G	probably benign	Het
Tnr	A	G	1: 159,695,673 (GRCm39)	D532G	probably damaging	Het
Tnrc18	T	A	5: 142,762,494 (GRCm39)	H465L	unknown	Het
Togaram2	A	T	17: 72,007,504 (GRCm39)	Q350L	possibly damaging	Het
Topaz1	G	A	9: 122,578,971 (GRCm39)	C627Y	possibly damaging	Het
Tpx2	A	T	2: 152,715,058 (GRCm39)	Q93L	probably benign	Het
Trim54	T	C	5: 31,293,526 (GRCm39)		probably null	Het
Troap	T	A	15: 98,980,541 (GRCm39)	C574S	probably damaging	Het
Tut7	A	T	13: 59,964,669 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Vmn2r51	A	G	7: 9,834,396 (GRCm39)	V214A	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,484 (GRCm39)	M642K	probably benign	Het
Vwa5a	T	A	9: 38,635,191 (GRCm39)	I232N	probably damaging	Het
Zfp820	A	T	17: 22,038,685 (GRCm39)	S214R	probably damaging	Het
Zfp955b	A	T	17: 33,524,437 (GRCm39)	S43R	probably damaging	Het
Zgrf1	C	T	3: 127,381,687 (GRCm39)	T1162M	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
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
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'- TGCCACCATGACCAAGAAGGTGAG -3'
(R):5'- CTGCTTTAACGCCGTGAATTCCTG -3'

Sequencing Primer
(F):5'- gaggcaggtggatgacaag -3'
(R):5'- GAGAGCTGACATACTCTCAGATGC -3'

Posted On

2013-07-11