Mutagenetix > Incidental Mutation

Incidental Mutation 'R0304:Ddx47'

37740

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

038515-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R0304 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134988575-135000739 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134994183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 154 (I154V)

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: I245V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032326
Gene: ENSMUSG00000030204
AA Change: I245V

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: I63V

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115183
Gene: ENSMUSG00000030204
AA Change: I63V

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: I241V

SMART Domains

Protein: ENSMUSP00000119231
Gene: ENSMUSG00000030204
AA Change: I241V

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

possibly damaging
Transcript: ENSMUST00000205055
AA Change: I154V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000145463
Gene: ENSMUSG00000030204
AA Change: I154V

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: I220V

Predicted Effect

probably benign
Transcript: ENSMUST00000205244
AA Change: I182V

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000145139
Gene: ENSMUSG00000030204
AA Change: I182V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155277

Meta Mutation Damage Score

0.0821

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	C	T	4: 144,246,619 (GRCm39)	T55I	probably benign	Het
Acod1	T	A	14: 103,292,418 (GRCm39)	I314N	probably damaging	Het
Actl11	T	A	9: 107,806,967 (GRCm39)	V430E	probably damaging	Het
Adam19	A	C	11: 46,018,219 (GRCm39)	D427A	possibly damaging	Het
Adarb2	C	T	13: 8,802,606 (GRCm39)		probably benign	Het
Akap7	A	T	10: 25,147,450 (GRCm39)	H93Q	probably damaging	Het
Ankrd36	C	A	11: 5,578,981 (GRCm39)	R82S	possibly damaging	Het
Arhgap21	A	T	2: 20,864,612 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,427,644 (GRCm39)	I489F	probably benign	Het
Carmil1	T	C	13: 24,323,324 (GRCm39)	S243G	probably damaging	Het
Cdc42bpg	T	C	19: 6,367,278 (GRCm39)	V939A	probably damaging	Het
Cel	A	C	2: 28,447,783 (GRCm39)	L377R	probably benign	Het
Clock	A	G	5: 76,374,832 (GRCm39)	V779A	unknown	Het
Cluap1	G	A	16: 3,747,782 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,654,889 (GRCm39)	H212Q	probably benign	Het
Cyp4a29	T	A	4: 115,110,129 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,258 (GRCm39)	N101S	possibly damaging	Het
D130043K22Rik	T	C	13: 25,048,798 (GRCm39)	M434T	probably benign	Het
Dnah6	C	T	6: 73,136,098 (GRCm39)	E1014K	probably damaging	Het
Dnajc27	T	G	12: 4,156,793 (GRCm39)		probably benign	Het
Drc7	A	T	8: 95,785,756 (GRCm39)	D204V	probably damaging	Het
Dsc3	A	G	18: 20,114,298 (GRCm39)	Y319H	probably damaging	Het
Eml6	T	C	11: 29,727,441 (GRCm39)	Q1227R	probably benign	Het
Enpp2	A	T	15: 54,741,202 (GRCm39)	D365E	probably benign	Het
Ercc2	T	C	7: 19,120,633 (GRCm39)	I199T	possibly damaging	Het
Exd2	G	A	12: 80,538,014 (GRCm39)		probably benign	Het
F2	A	T	2: 91,463,578 (GRCm39)	I128N	probably damaging	Het
Fam219b	T	C	9: 57,446,159 (GRCm39)	L123P	probably damaging	Het
Fasn	A	G	11: 120,710,762 (GRCm39)	V299A	possibly damaging	Het
Fastkd2	T	C	1: 63,791,559 (GRCm39)	V689A	possibly damaging	Het
Fbxw13	C	T	9: 109,023,789 (GRCm39)	R85Q	probably benign	Het
Fer1l6	A	G	15: 58,462,411 (GRCm39)	Y822C	probably benign	Het
Fhl5	T	C	4: 25,207,241 (GRCm39)	T176A	probably benign	Het
Gm20530	T	G	17: 36,405,118 (GRCm39)		noncoding transcript	Het
Gm4787	A	T	12: 81,425,708 (GRCm39)	I150N	probably damaging	Het
Grip1	G	A	10: 119,911,376 (GRCm39)	S618N	probably benign	Het
Hdac9	T	C	12: 34,424,110 (GRCm39)	K454E	probably damaging	Het
Iars2	T	A	1: 185,019,353 (GRCm39)	I978F	possibly damaging	Het
Icosl	A	G	10: 77,911,156 (GRCm39)	Y299C	probably benign	Het
Idi1	T	C	13: 8,940,393 (GRCm39)	Y192H	probably damaging	Het
Iqub	T	G	6: 24,454,290 (GRCm39)	Q531P	probably damaging	Het
Itih4	T	A	14: 30,612,051 (GRCm39)		probably null	Het
Izumo4	A	T	10: 80,538,770 (GRCm39)	H71L	probably damaging	Het
Jcad	A	T	18: 4,673,325 (GRCm39)	E362D	possibly damaging	Het
Kif21a	G	T	15: 90,860,724 (GRCm39)		probably null	Het
Kynu	A	T	2: 43,569,893 (GRCm39)	I392F	probably damaging	Het
Luc7l2	A	G	6: 38,569,711 (GRCm39)	E223G	probably damaging	Het
Map3k8	A	C	18: 4,339,552 (GRCm39)	L273R	probably damaging	Het
Max	A	G	12: 76,985,361 (GRCm39)	L119P	probably benign	Het
Mphosph9	T	C	5: 124,436,892 (GRCm39)	N484S	probably benign	Het
Mrgprg	A	G	7: 143,318,792 (GRCm39)	Y107H	probably damaging	Het
Mrps31	A	T	8: 22,911,354 (GRCm39)	I199F	probably benign	Het
Mtr	C	G	13: 12,237,040 (GRCm39)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Nkapd1	T	C	9: 50,519,222 (GRCm39)	D130G	probably damaging	Het
Nptx2	A	G	5: 144,490,460 (GRCm39)		probably benign	Het
Nrip1	T	C	16: 76,089,595 (GRCm39)	Q654R	possibly damaging	Het
Ocm	A	G	5: 143,961,352 (GRCm39)	F30L	probably damaging	Het
Oosp1	T	C	19: 11,668,333 (GRCm39)	M17V	probably benign	Het
Or14c45	C	T	7: 86,176,195 (GRCm39)	P77S	probably damaging	Het
Or4c111	G	A	2: 88,843,632 (GRCm39)	R259W	probably damaging	Het
Or4c118	A	C	2: 88,975,108 (GRCm39)	Y86*	probably null	Het
Or52ad1	G	T	7: 102,995,918 (GRCm39)	D72E	probably damaging	Het
Pax1	A	T	2: 147,208,067 (GRCm39)	Y225F	probably benign	Het
Pde4dip	T	A	3: 97,751,028 (GRCm39)	H62L	probably benign	Het
Pkd1	C	A	17: 24,804,920 (GRCm39)	Q3190K	probably damaging	Het
Pkn1	A	C	8: 84,410,236 (GRCm39)		probably benign	Het
Plin5	T	C	17: 56,422,597 (GRCm39)	D113G	probably damaging	Het
Ppfia1	A	G	7: 144,036,082 (GRCm39)	V1141A	probably damaging	Het
Ppp4r1	T	A	17: 66,123,001 (GRCm39)	D334E	probably benign	Het
Ptov1	A	T	7: 44,512,873 (GRCm39)		probably null	Het
Rab22a	G	A	2: 173,503,252 (GRCm39)	V22M	probably damaging	Het
Rictor	T	A	15: 6,815,852 (GRCm39)		probably null	Het
Sart1	G	T	19: 5,430,559 (GRCm39)		probably benign	Het
Scn11a	G	A	9: 119,648,928 (GRCm39)	A45V	probably benign	Het
Serpina5	A	G	12: 104,069,459 (GRCm39)	T224A	possibly damaging	Het
Siglecf	G	T	7: 43,001,825 (GRCm39)	G212C	probably damaging	Het
Slc38a4	A	T	15: 96,906,335 (GRCm39)	M378K	probably damaging	Het
Spata22	T	A	11: 73,231,275 (GRCm39)	C176*	probably null	Het
Tmc3	G	A	7: 83,245,347 (GRCm39)	E131K	probably damaging	Het
Trappc10	A	T	10: 78,046,594 (GRCm39)		probably benign	Het
Uvrag	A	G	7: 98,537,180 (GRCm39)	F672L	probably benign	Het
Vmn1r121	A	G	7: 20,832,332 (GRCm39)	V36A	possibly damaging	Het
Vmn1r13	A	T	6: 57,187,611 (GRCm39)	M257L	probably benign	Het
Vmn1r58	C	T	7: 5,413,495 (GRCm39)	C245Y	probably damaging	Het
Vmn1r86	C	A	7: 12,836,707 (GRCm39)	M56I	probably benign	Het
Wdr62	T	C	7: 29,942,299 (GRCm39)	Y1051C	probably benign	Het
Xpnpep3	A	G	15: 81,314,915 (GRCm39)	D205G	probably damaging	Het
Zdhhc14	T	C	17: 5,775,611 (GRCm39)		probably benign	Het
Zfp607a	A	T	7: 27,578,637 (GRCm39)	D569V	possibly damaging	Het
Zfp609	C	T	9: 65,608,470 (GRCm39)	E1137K	possibly damaging	Het
Zfp871	T	C	17: 32,993,408 (GRCm39)	Y589C	probably damaging	Het
Zzef1	A	T	11: 72,771,450 (GRCm39)	D1644V	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
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
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'- CGTGAATTCCTGGCATGTTC -3'

Posted On

2013-05-23