Mutagenetix > Incidental Mutation

Incidental Mutation 'R0097:Ddx41'

41168

Institutional Source

Beutler Lab

Gene Symbol

Ddx41

Ensembl Gene

ENSMUSG00000021494

Gene Name

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

Synonyms

2900024F02Rik

MMRRC Submission

038383-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0097 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

55530410-55536658 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 55535878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153348 (fasta)

Gene Model

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

AlphaFold

Q91VN6

Predicted Effect

probably benign
Transcript: ENSMUST00000021956

SMART Domains

Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494

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

probably benign
Transcript: ENSMUST00000224765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225783

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (57/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,412,480	I353K	probably benign	Het
5830473C10Rik	T	A	5: 90,584,936	S535R	probably benign	Het
Arfgap2	T	A	2: 91,274,815	V422E	probably benign	Het
Baz1b	T	C	5: 135,198,259	S105P	probably benign	Het
Bbs10	T	C	10: 111,298,844	V41A	probably damaging	Het
Cacna1s	T	A	1: 136,100,622	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,146,052	A180V	probably benign	Het
Cldnd1	A	G	16: 58,729,715	N87S	possibly damaging	Het
Cyp2c54	T	A	19: 40,047,658		probably benign	Het
Cyp2c54	G	T	19: 40,047,659		probably benign	Het
Dab2ip	G	A	2: 35,718,916	V629M	possibly damaging	Het
Dmrta1	A	T	4: 89,688,872	R188S	probably benign	Het
Eml3	T	A	19: 8,936,651	F465L	probably benign	Het
Gm13128	T	C	4: 144,331,287	S155P	probably benign	Het
Gm9938	T	A	19: 23,724,464		probably benign	Het
Gpr87	G	A	3: 59,179,085	T333I	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Llgl2	T	A	11: 115,844,497	Y59*	probably null	Het
Lzic	A	G	4: 149,488,076	E41G	probably damaging	Het
Mprip	T	A	11: 59,758,491	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,348,376	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,155,762	M3121K	probably damaging	Het
Myocd	T	A	11: 65,179,014	M667L	possibly damaging	Het
Narfl	T	C	17: 25,777,002	S67P	possibly damaging	Het
Ncam2	A	G	16: 81,517,537	D467G	probably damaging	Het
Neb	T	C	2: 52,204,894	N4882S	probably damaging	Het
Neu2	A	G	1: 87,597,466	D391G	probably benign	Het
Nol4	C	A	18: 22,719,141	A456S	probably benign	Het
Olfr1025-ps1	T	C	2: 85,918,840	V305A	probably benign	Het
Padi6	C	T	4: 140,730,957	V513M	probably benign	Het
Pign	G	A	1: 105,587,976		probably benign	Het
Plpp2	T	C	10: 79,530,537	E91G	possibly damaging	Het
Pnp	T	A	14: 50,951,416	V222D	probably damaging	Het
Pnp2	C	T	14: 50,963,501	R148C	probably benign	Het
Prss38	A	G	11: 59,375,608	L8S	possibly damaging	Het
Rab5b	A	T	10: 128,682,940	F108I	probably damaging	Het
Rbbp5	T	A	1: 132,490,489	H15Q	possibly damaging	Het
Rhox4f	A	C	X: 37,607,469	V15G	probably benign	Het
Rsl1	A	C	13: 67,181,902	Q138P	probably damaging	Het
Ryr3	T	C	2: 112,800,055	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,771,456	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,403,978	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,032,860	I237F	probably damaging	Het
Svs3b	T	C	2: 164,256,239	E54G	probably damaging	Het
T	A	T	17: 8,439,901		probably benign	Het
Tenm4	A	T	7: 96,892,926	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451	L283*	probably null	Het
Tppp3	C	T	8: 105,467,922	A149T	probably benign	Het
Ubp1	T	C	9: 113,973,507		probably benign	Het
Ushbp1	C	T	8: 71,390,713	C314Y	probably damaging	Het
Vav2	A	T	2: 27,299,362		probably benign	Het
Vmn1r228	T	C	17: 20,776,363	M298V	probably benign	Het
Zmpste24	A	T	4: 121,095,543		probably benign	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
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
R3773: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'- CACTGACATCAAGGCTGAGGAGAC -3'
(R):5'- AGGGACTAGTGAACCTGAGTTCCG -3'

Sequencing Primer
(F):5'- AGGTCTCGCCTTTGAAATCG -3'
(R):5'- CTTGGCTCTGAGGGACACTG -3'

Posted On

2013-05-23