Mutagenetix > Incidental Mutation

Incidental Mutation 'R3773:Ddx41'

273451

Institutional Source

Beutler Lab

Gene Symbol

Ddx41

Ensembl Gene

ENSMUSG00000021494

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 41

Synonyms

2900024F02Rik

MMRRC Submission

040749-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55530410-55536658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55534480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 205 (R205W)

Ref Sequence

ENSEMBL: ENSMUSP00000153348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021956] [ENSMUST00000021957] [ENSMUST00000224765]

AlphaFold

Q91VN6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021956
AA Change: R194W

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494
AA Change: R194W

Domain	Start	End	E-Value	Type
low complexity region	24	32	N/A	INTRINSIC
low complexity region	39	56	N/A	INTRINSIC
low complexity region	95	115	N/A	INTRINSIC
DEXDc	200	411	8.56e-53	SMART
HELICc	446	527	5.99e-34	SMART
ZnF_C2HC	581	597	1.98e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000021957

SMART Domains

Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495

Domain	Start	End	E-Value	Type
low complexity region	55	71	N/A	INTRINSIC
low complexity region	133	144	N/A	INTRINSIC
low complexity region	161	174	N/A	INTRINSIC
low complexity region	198	242	N/A	INTRINSIC
low complexity region	260	286	N/A	INTRINSIC
coiled coil region	371	404	N/A	INTRINSIC
low complexity region	566	573	N/A	INTRINSIC
low complexity region	622	635	N/A	INTRINSIC
low complexity region	641	657	N/A	INTRINSIC
Pfam:FAM193_C	722	776	9.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224486

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224686

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224765
AA Change: R205W

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225783

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	C	17: 56,876,262	M1T	probably null	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
A2ml1	T	A	6: 128,555,083	K899N	probably benign	Het
Adgrv1	G	A	13: 81,499,043	S3126L	probably damaging	Het
Apba3	C	A	10: 81,272,609		probably null	Het
Apobec4	G	T	1: 152,756,805	A195S	probably benign	Het
Asap3	C	T	4: 136,227,575	T72I	probably benign	Het
BC067074	A	G	13: 113,318,209	E263G	probably benign	Het
Cand2	T	A	6: 115,785,217	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,126,219	K19E	probably benign	Het
Cyp17a1	T	G	19: 46,669,723	K250T	probably damaging	Het
Dgcr8	T	C	16: 18,256,775	D712G	probably damaging	Het
Dsg2	T	C	18: 20,591,862	W442R	probably damaging	Het
Elavl2	C	T	4: 91,264,088	G131R	probably damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,841,450	D270G	probably damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Fry	A	T	5: 150,398,198	R999S	probably damaging	Het
Gak	G	A	5: 108,582,672	T956I	probably benign	Het
Gm6614	T	C	6: 141,972,335	K605R	probably benign	Het
Gm9008	C	T	6: 76,496,959	V225I	probably benign	Het
Gps2	T	C	11: 69,916,101	F21L	probably damaging	Het
Grhl3	C	T	4: 135,555,847	W303*	probably null	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Matk	T	A	10: 81,258,297	L21Q	probably benign	Het
Mthfr	T	C	4: 148,044,450	V160A	probably benign	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Olfr1497	T	A	19: 13,795,204	M136L	probably benign	Het
Olfr345	A	T	2: 36,640,321	Y94F	probably benign	Het
Olfr57	G	A	10: 79,035,180	C128Y	possibly damaging	Het
Olfr90	G	T	17: 37,086,065	Y33*	probably null	Het
Pcdhb15	T	A	18: 37,475,890	V725D	probably benign	Het
Pes1	A	G	11: 3,975,548	Y221C	probably damaging	Het
Prkd3	T	C	17: 78,959,106	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,477,121	E97G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rims1	T	C	1: 22,421,810	D842G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rngtt	T	C	4: 33,330,889	I164T	probably damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Stxbp5	G	A	10: 9,768,927	T960I	probably damaging	Het
Suco	A	T	1: 161,843,996		probably null	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,898,586	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,889,615	*254W	probably null	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,424,095	V26A	probably damaging	Het
Upb1	T	A	10: 75,439,838		probably null	Het
Vmn1r32	T	A	6: 66,553,367	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zbed4	T	C	15: 88,780,847	S373P	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp423	A	T	8: 87,780,512	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	Het

Other mutations in Ddx41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ddx41	APN	13	55531399	missense	probably damaging	1.00
IGL00516:Ddx41	APN	13	55532467	missense	probably damaging	0.96
IGL02383:Ddx41	APN	13	55532357	missense	probably benign	0.04
R0081:Ddx41	UTSW	13	55535380	missense	possibly damaging	0.58
R0097:Ddx41	UTSW	13	55535878	splice site	probably benign
R0412:Ddx41	UTSW	13	55530608	missense	probably damaging	0.99
R0597:Ddx41	UTSW	13	55533006	missense	probably damaging	1.00
R0699:Ddx41	UTSW	13	55531299	splice site	probably benign
R1330:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R1812:Ddx41	UTSW	13	55535954	missense	probably benign	0.03
R2011:Ddx41	UTSW	13	55534093	splice site	probably null
R2224:Ddx41	UTSW	13	55531401	missense	probably damaging	1.00
R2310:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R2311:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R2355:Ddx41	UTSW	13	55534300	missense	probably benign	0.03
R2983:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R3032:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R3764:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R3916:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R3926:Ddx41	UTSW	13	55531270	missense	probably damaging	1.00
R4153:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R4154:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R4372:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R4470:Ddx41	UTSW	13	55534480	missense	possibly damaging	0.87
R4519:Ddx41	UTSW	13	55533144	missense	probably damaging	1.00
R4569:Ddx41	UTSW	13	55536021	missense	possibly damaging	0.88
R4823:Ddx41	UTSW	13	55532055	missense	probably benign	0.02
R4837:Ddx41	UTSW	13	55531648	missense	possibly damaging	0.95
R5443:Ddx41	UTSW	13	55535291	missense	probably benign	0.00
R5642:Ddx41	UTSW	13	55535895	missense	possibly damaging	0.86
R5926:Ddx41	UTSW	13	55534299	missense	probably damaging	0.99
R5949:Ddx41	UTSW	13	55532061	missense	probably damaging	1.00
R6035:Ddx41	UTSW	13	55533968	missense	probably benign	0.00
R6035:Ddx41	UTSW	13	55533968	missense	probably benign	0.00
R7254:Ddx41	UTSW	13	55533956	nonsense	probably null
R7640:Ddx41	UTSW	13	55534239	missense	possibly damaging	0.81
R7803:Ddx41	UTSW	13	55531921	missense	probably damaging	1.00
R8690:Ddx41	UTSW	13	55533126	missense	probably damaging	1.00
R8714:Ddx41	UTSW	13	55534437	missense	probably damaging	1.00
R9071:Ddx41	UTSW	13	55532406	missense	probably damaging	0.96
R9089:Ddx41	UTSW	13	55535611	missense	probably benign	0.05
R9312:Ddx41	UTSW	13	55536029	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAGTGAATACCAGTGTCTTGCC -3'
(R):5'- GCTTCAACAGAGCTTCCATGAG -3'

Sequencing Primer
(F):5'- AATGCCGATCATGTCCCG -3'
(R):5'- TTCCATGAGAACTTAGGCCCAGTG -3'

Posted On

2015-03-25