Mutagenetix > Incidental Mutation

Incidental Mutation 'R3916:Ddx41'

309769

Institutional Source

Beutler Lab

Gene Symbol

Ddx41

Ensembl Gene

ENSMUSG00000021494

Gene Name

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

Synonyms

2900024F02Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3916 (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: 97.4%
20x: 95.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	G	2: 68,731,985	F319V	possibly damaging	Het
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Anks3	A	G	16: 4,947,279	Y423H	probably damaging	Het
Arfgef1	A	T	1: 10,189,443	V600D	probably benign	Het
Arhgef18	T	C	8: 3,454,197	F939L	probably benign	Het
Arhgef2	A	G	3: 88,633,033	N127S	probably damaging	Het
Arid1b	A	G	17: 5,342,653	S2100G	probably benign	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Atrnl1	T	C	19: 57,935,652	V1283A	possibly damaging	Het
Bpifb5	A	C	2: 154,228,181	K184Q	probably benign	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Cant1	A	G	11: 118,408,746	V259A	probably damaging	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Cyp4f18	A	T	8: 71,996,037	F256Y	probably benign	Het
Dopey1	G	A	9: 86,521,133	R1462H	probably damaging	Het
Dync1i2	A	G	2: 71,249,372	T377A	probably damaging	Het
F2	G	A	2: 91,625,488	T600M	probably damaging	Het
Fam91a1	C	T	15: 58,430,734	H308Y	probably damaging	Het
Fkbp2	C	A	19: 6,978,557		probably null	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Ifi204	T	G	1: 173,755,775	K292N	possibly damaging	Het
Itpkc	A	T	7: 27,228,303	I62N	probably benign	Het
Kcnab1	G	A	3: 65,304,164		probably null	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Larp4	C	T	15: 99,990,403	T107I	probably benign	Het
Lmo7	T	C	14: 101,929,342		probably benign	Het
Lrrc37a	T	C	11: 103,455,518	Y3174C	possibly damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myh7	C	A	14: 54,974,046	E1555D	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Obox3	C	A	7: 15,627,226	C38F	probably benign	Het
P4ha2	A	G	11: 54,126,248	D441G	probably benign	Het
Pcdhb14	A	T	18: 37,448,545	I235F	possibly damaging	Het
Rasgrf2	A	G	13: 92,030,788	V259A	probably damaging	Het
Scn1a	T	C	2: 66,277,613	T1590A	probably damaging	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Sema3b	A	G	9: 107,600,458	F482S	probably damaging	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a3	A	G	13: 73,562,308	I346V	probably benign	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Spns1	A	T	7: 126,371,539		probably null	Het
Supv3l1	T	C	10: 62,449,420	D89G	possibly damaging	Het
Taf1c	G	A	8: 119,600,505	R412W	probably damaging	Het
Tctn3	T	A	19: 40,607,649	T305S	possibly damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tet2	T	C	3: 133,486,055	K873E	possibly damaging	Het
Thada	G	A	17: 84,441,782	A587V	possibly damaging	Het
Tmprss15	T	A	16: 78,985,996	N712Y	probably damaging	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Tnrc6a	A	C	7: 123,181,384	Q1332H	probably damaging	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Uba5	A	T	9: 104,054,190	C227S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Unc80	T	C	1: 66,677,495	C2925R	probably benign	Het
Vmn2r83	G	A	10: 79,478,910	G331R	probably benign	Het
Xirp2	G	T	2: 67,511,422	V1336F	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	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
R3773: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'- AGTGAATACCAGTGTCTTGCC -3'
(R):5'- TCTGCTTCAACAGAGCTTCC -3'

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

Posted On

2015-04-17