Mutagenetix > Incidental Mutation

Incidental Mutation 'R0699:Ddx41'

62972

Institutional Source

Beutler Lab

Gene Symbol

Ddx41

Ensembl Gene

ENSMUSG00000021494

Gene Name

DEAD box helicase 41

Synonyms

DEAD (Asp-Glu-Ala-Asp) box polypeptide 41, 2900024F02Rik

MMRRC Submission

038883-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0699 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

55678223-55684471 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 55679112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153348 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021956] [ENSMUST00000047877] [ENSMUST00000223563] [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: ENSMUST00000047877

SMART Domains

Protein: ENSMUSP00000046695
Gene: ENSMUSG00000035711

Domain	Start	End	E-Value	Type
PH	7	125	3.54e-5	SMART
IRS	157	256	1.61e-41	SMART
PTBI	158	256	2.59e-24	SMART
low complexity region	273	284	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC
low complexity region	358	376	N/A	INTRINSIC
low complexity region	410	421	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224686

Predicted Effect

probably benign
Transcript: ENSMUST00000224765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225783

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (120/123)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,538,508 (GRCm39)		probably benign	Het
Abcb6	C	T	1: 75,148,553 (GRCm39)	E89K	probably damaging	Het
Adam25	C	A	8: 41,209,011 (GRCm39)	T759K	probably benign	Het
Adgrf5	G	A	17: 43,733,552 (GRCm39)		probably null	Het
Aimp1	A	T	3: 132,380,626 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,153,148 (GRCm39)	V193I	probably benign	Het
Ank2	C	T	3: 126,723,478 (GRCm39)	V950I	probably benign	Het
Aspn	A	G	13: 49,705,258 (GRCm39)	D40G	possibly damaging	Het
C1rl	A	G	6: 124,485,595 (GRCm39)	D322G	probably benign	Het
Car5a	T	C	8: 122,671,555 (GRCm39)		probably benign	Het
Cfap107	G	T	4: 144,146,322 (GRCm39)	N110K	probably damaging	Het
Cfap157	T	A	2: 32,669,022 (GRCm39)	K360N	probably damaging	Het
Cilp	T	A	9: 65,177,608 (GRCm39)	F117Y	probably damaging	Het
Cntnap5c	T	G	17: 58,349,493 (GRCm39)	W269G	probably damaging	Het
Col6a1	A	G	10: 76,552,114 (GRCm39)	V459A	unknown	Het
Commd3	A	G	2: 18,679,786 (GRCm39)	E165G	possibly damaging	Het
Cops3	A	C	11: 59,717,148 (GRCm39)	Y244D	probably damaging	Het
Cpne5	T	A	17: 29,428,667 (GRCm39)	K108N	probably damaging	Het
Cracdl	T	C	1: 37,651,411 (GRCm39)	D1152G	possibly damaging	Het
Dnhd1	T	C	7: 105,301,113 (GRCm39)	Y157H	probably damaging	Het
Dpp8	A	T	9: 64,962,176 (GRCm39)	L405F	probably benign	Het
Dync2h1	G	T	9: 7,103,680 (GRCm39)	A365E	probably benign	Het
Dysf	C	T	6: 84,167,828 (GRCm39)	R1757W	probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Eif2ak3	T	C	6: 70,869,514 (GRCm39)	F734L	probably benign	Het
F8	T	C	X: 74,423,230 (GRCm39)		probably benign	Het
Fbxl14	T	C	6: 119,457,715 (GRCm39)	Y299H	probably benign	Het
Fmo1	T	C	1: 162,661,341 (GRCm39)	N314S	probably benign	Het
Fnip2	T	C	3: 79,388,446 (GRCm39)	T762A	probably benign	Het
Gfra1	A	C	19: 58,258,555 (GRCm39)	S271A	probably benign	Het
Gm9932	T	C	5: 100,346,931 (GRCm39)	V43A	probably damaging	Het
Herc6	T	C	6: 57,558,092 (GRCm39)	L24P	probably damaging	Het
Hmcn1	T	C	1: 150,695,161 (GRCm39)	T248A	probably damaging	Het
Hook1	T	A	4: 95,884,077 (GRCm39)		probably benign	Het
Ifne	T	C	4: 88,798,014 (GRCm39)	S135G	probably benign	Het
Igkv13-84	G	A	6: 68,916,635 (GRCm39)		probably benign	Het
Itm2b	T	A	14: 73,602,065 (GRCm39)	N211I	probably damaging	Het
Kcnh5	A	T	12: 75,023,305 (GRCm39)	C588S	possibly damaging	Het
Kif13a	A	T	13: 46,952,689 (GRCm39)	W699R	possibly damaging	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Macrod2	T	C	2: 140,260,836 (GRCm39)		probably null	Het
Map3k6	A	G	4: 132,975,437 (GRCm39)	E724G	probably damaging	Het
Mgam	T	C	6: 40,619,953 (GRCm39)	L14P	possibly damaging	Het
Morc1	T	A	16: 48,412,977 (GRCm39)	M706K	probably benign	Het
Muc2	T	C	7: 141,306,037 (GRCm39)	V242A	probably damaging	Het
Mx2	T	A	16: 97,345,753 (GRCm39)	V57E	probably damaging	Het
Myh14	C	A	7: 44,274,395 (GRCm39)	A1339S	possibly damaging	Het
Myom1	G	T	17: 71,374,308 (GRCm39)	S595I	probably damaging	Het
Nav1	T	A	1: 135,380,687 (GRCm39)	M1471L	probably benign	Het
Ncapd2	A	C	6: 125,146,843 (GRCm39)	S1248A	probably benign	Het
Ncbp1	T	C	4: 46,147,528 (GRCm39)	V125A	probably benign	Het
Ncor2	A	T	5: 125,106,176 (GRCm39)		probably benign	Het
Nobox	T	A	6: 43,284,144 (GRCm39)	Q134L	probably benign	Het
Npc1	T	C	18: 12,343,632 (GRCm39)	T454A	probably benign	Het
Ntng1	G	T	3: 109,779,611 (GRCm39)	T322K	probably damaging	Het
Olfm5	T	C	7: 103,803,326 (GRCm39)	E379G	probably damaging	Het
Oma1	T	C	4: 103,210,792 (GRCm39)	S433P	probably damaging	Het
Or1ad6	T	C	11: 50,860,645 (GRCm39)	S267P	probably damaging	Het
Or1b1	T	C	2: 36,995,074 (GRCm39)	D196G	possibly damaging	Het
Or4c105	A	T	2: 88,647,568 (GRCm39)	N18Y	probably damaging	Het
Or4c107	C	T	2: 88,788,960 (GRCm39)	T50I	probably benign	Het
Or4c113	C	T	2: 88,885,636 (GRCm39)	V45M	possibly damaging	Het
Parp14	G	A	16: 35,680,955 (GRCm39)	T226M	probably damaging	Het
Parp8	A	T	13: 117,059,120 (GRCm39)	H168Q	probably benign	Het
Pik3cg	G	A	12: 32,247,341 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,442,000 (GRCm39)	F388S	probably damaging	Het
Plaat3	T	A	19: 7,535,366 (GRCm39)		probably null	Het
Pllp	T	C	8: 95,422,660 (GRCm39)		probably null	Het
Ppfibp1	T	A	6: 146,927,720 (GRCm39)	V778E	probably damaging	Het
Prkci	T	C	3: 31,104,422 (GRCm39)	V595A	possibly damaging	Het
Prune2	T	A	19: 17,101,319 (GRCm39)	D2274E	probably damaging	Het
Rad51ap2	A	T	12: 11,507,601 (GRCm39)	T508S	probably benign	Het
Ranbp3l	T	C	15: 9,058,850 (GRCm39)		probably null	Het
Rfc1	A	C	5: 65,476,742 (GRCm39)		probably null	Het
Rin3	G	A	12: 102,335,834 (GRCm39)	V502I	probably damaging	Het
Rtn4rl1	A	T	11: 75,156,048 (GRCm39)	H160L	possibly damaging	Het
Rtn4rl1	A	T	11: 75,156,050 (GRCm39)	I161F	probably benign	Het
Serpinb9b	A	T	13: 33,217,549 (GRCm39)	M116L	probably benign	Het
Sgo2a	C	T	1: 58,037,308 (GRCm39)	R18*	probably null	Het
Sh3gl2	T	A	4: 85,265,408 (GRCm39)	D31E	probably benign	Het
Slc38a9	T	C	13: 112,859,823 (GRCm39)	L419S	probably damaging	Het
Sp8	AGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGG	12: 118,812,555 (GRCm39)		probably benign	Het
Spen	G	T	4: 141,201,702 (GRCm39)	N2308K	possibly damaging	Het
Stac2	A	G	11: 97,933,611 (GRCm39)	I156T	possibly damaging	Het
Stambp	A	G	6: 83,533,303 (GRCm39)	F320S	probably damaging	Het
Tas2r117	A	T	6: 132,780,161 (GRCm39)	N100Y	probably damaging	Het
Tigd3	A	T	19: 5,941,974 (GRCm39)	S385R	probably benign	Het
Tmem30c	T	C	16: 57,097,152 (GRCm39)	D136G	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnrc6c	A	G	11: 117,613,447 (GRCm39)	Q535R	probably benign	Het
Trmt2a	T	C	16: 18,067,393 (GRCm39)	V22A	probably benign	Het
Tut7	G	A	13: 59,929,828 (GRCm39)		probably benign	Het
Wipf3	A	C	6: 54,460,817 (GRCm39)	K88N	probably damaging	Het
Zfp974	T	C	7: 27,611,416 (GRCm39)	E103G	possibly damaging	Het
Zscan10	C	T	17: 23,827,092 (GRCm39)	T135I	probably damaging	Het

Other mutations in Ddx41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Ddx41	APN	13	55,679,212 (GRCm39)	missense	probably damaging	1.00
IGL00516:Ddx41	APN	13	55,680,280 (GRCm39)	missense	probably damaging	0.96
IGL02383:Ddx41	APN	13	55,680,170 (GRCm39)	missense	probably benign	0.04
R0081:Ddx41	UTSW	13	55,683,193 (GRCm39)	missense	possibly damaging	0.58
R0097:Ddx41	UTSW	13	55,683,691 (GRCm39)	splice site	probably benign
R0412:Ddx41	UTSW	13	55,678,421 (GRCm39)	missense	probably damaging	0.99
R0597:Ddx41	UTSW	13	55,680,819 (GRCm39)	missense	probably damaging	1.00
R1330:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R1812:Ddx41	UTSW	13	55,683,767 (GRCm39)	missense	probably benign	0.03
R2011:Ddx41	UTSW	13	55,681,906 (GRCm39)	splice site	probably null
R2224:Ddx41	UTSW	13	55,679,214 (GRCm39)	missense	probably damaging	1.00
R2310:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R2311:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R2355:Ddx41	UTSW	13	55,682,113 (GRCm39)	missense	probably benign	0.03
R2983:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R3032:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R3764:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R3773:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R3916:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R3926:Ddx41	UTSW	13	55,679,083 (GRCm39)	missense	probably damaging	1.00
R4153:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R4154:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R4372:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R4470:Ddx41	UTSW	13	55,682,293 (GRCm39)	missense	possibly damaging	0.87
R4519:Ddx41	UTSW	13	55,680,957 (GRCm39)	missense	probably damaging	1.00
R4569:Ddx41	UTSW	13	55,683,834 (GRCm39)	missense	possibly damaging	0.88
R4823:Ddx41	UTSW	13	55,679,868 (GRCm39)	missense	probably benign	0.02
R4837:Ddx41	UTSW	13	55,679,461 (GRCm39)	missense	possibly damaging	0.95
R5443:Ddx41	UTSW	13	55,683,104 (GRCm39)	missense	probably benign	0.00
R5642:Ddx41	UTSW	13	55,683,708 (GRCm39)	missense	possibly damaging	0.86
R5926:Ddx41	UTSW	13	55,682,112 (GRCm39)	missense	probably damaging	0.99
R5949:Ddx41	UTSW	13	55,679,874 (GRCm39)	missense	probably damaging	1.00
R6035:Ddx41	UTSW	13	55,681,781 (GRCm39)	missense	probably benign	0.00
R6035:Ddx41	UTSW	13	55,681,781 (GRCm39)	missense	probably benign	0.00
R7254:Ddx41	UTSW	13	55,681,769 (GRCm39)	nonsense	probably null
R7640:Ddx41	UTSW	13	55,682,052 (GRCm39)	missense	possibly damaging	0.81
R7803:Ddx41	UTSW	13	55,679,734 (GRCm39)	missense	probably damaging	1.00
R8690:Ddx41	UTSW	13	55,680,939 (GRCm39)	missense	probably damaging	1.00
R8714:Ddx41	UTSW	13	55,682,250 (GRCm39)	missense	probably damaging	1.00
R9071:Ddx41	UTSW	13	55,680,219 (GRCm39)	missense	probably damaging	0.96
R9089:Ddx41	UTSW	13	55,683,424 (GRCm39)	missense	probably benign	0.05
R9312:Ddx41	UTSW	13	55,683,842 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACCTCCAATGTCCACTATGGACC -3'
(R):5'- ACCAAGGCCATTGAGGCATTCC -3'

Sequencing Primer
(F):5'- gtccagcatggaccacag -3'
(R):5'- GTCATCAACTATGACATGCCTG -3'

Posted On

2013-07-30