Mutagenetix > Incidental Mutation

Incidental Mutation 'R4569:Ddx41'

342028

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

041793-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4569 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

55678223-55684471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 55683834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 66 (R66C)

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: R55C

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494
AA Change: R55C

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: R66C

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225703

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225783

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (87/88)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,262 (GRCm39)	T322A	probably benign	Het
Abhd13	C	T	8: 10,038,071 (GRCm39)	P223S	possibly damaging	Het
Adgra3	T	A	5: 50,117,905 (GRCm39)	L1214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd13a	C	A	5: 114,927,373 (GRCm39)	P120Q	probably damaging	Het
Apbb1ip	A	G	2: 22,739,556 (GRCm39)	Y277C	probably damaging	Het
Arfgap1	T	C	2: 180,618,166 (GRCm39)		probably benign	Het
Arid2	T	A	15: 96,290,343 (GRCm39)	V1746D	probably damaging	Het
C1qtnf7	T	A	5: 43,766,549 (GRCm39)	N49K	possibly damaging	Het
Cacnb2	A	T	2: 14,990,811 (GRCm39)	D587V	possibly damaging	Het
Ccar2	A	T	14: 70,389,359 (GRCm39)		probably null	Het
Cdk2ap2	T	C	19: 4,147,879 (GRCm39)	F49L	possibly damaging	Het
Cdon	A	T	9: 35,388,265 (GRCm39)	I747F	probably damaging	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Cyp4v3	T	A	8: 45,760,029 (GRCm39)	R508W	probably damaging	Het
Dclk1	T	C	3: 55,154,831 (GRCm39)	L87P	probably damaging	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dnah7a	G	A	1: 53,450,818 (GRCm39)	P3871S	probably benign	Het
Dnhd1	A	G	7: 105,306,373 (GRCm39)		probably null	Het
Dph1	A	T	11: 75,069,721 (GRCm39)		probably benign	Het
Egln2	A	G	7: 26,859,008 (GRCm39)	I382T	probably damaging	Het
Enpp3	A	G	10: 24,652,780 (GRCm39)	Y726H	probably damaging	Het
Fbxo32	A	G	15: 58,044,873 (GRCm39)	F353L	probably damaging	Het
Fchsd2	G	A	7: 100,926,809 (GRCm39)	G657D	possibly damaging	Het
Fer1l4	T	A	2: 155,878,559 (GRCm39)	E44V	possibly damaging	Het
Gjb2	C	T	14: 57,337,762 (GRCm39)	V149I	probably benign	Het
Glipr1l1	A	G	10: 111,898,317 (GRCm39)	M141V	probably benign	Het
Gnaq	T	C	19: 16,312,370 (GRCm39)	S211P	probably damaging	Het
Gnl1	A	G	17: 36,299,142 (GRCm39)	R527G	probably benign	Het
Gns	A	G	10: 121,217,083 (GRCm39)	Q286R	probably benign	Het
Gon4l	T	C	3: 88,817,397 (GRCm39)		probably benign	Het
Gpr107	T	C	2: 31,097,677 (GRCm39)		probably benign	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Gtf2ird1	A	T	5: 134,439,857 (GRCm39)	D124E	probably damaging	Het
Hbp1	T	A	12: 32,000,231 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,230,875 (GRCm39)	T371I	unknown	Het
Ints2	A	G	11: 86,147,024 (GRCm39)	C41R	probably damaging	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Jph4	G	T	14: 55,352,503 (GRCm39)	R77S	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klhl12	A	T	1: 134,413,507 (GRCm39)	I331F	probably benign	Het
Map4k4	G	A	1: 40,039,698 (GRCm39)	R30Q	probably damaging	Het
Mgst1	C	A	6: 138,133,213 (GRCm39)	T176K	probably damaging	Het
Negr1	C	A	3: 156,914,013 (GRCm39)		probably benign	Het
Nrg1	C	T	8: 32,407,802 (GRCm39)	V144I	probably benign	Het
Ntmt2	T	A	1: 163,530,586 (GRCm39)	*284C	probably null	Het
Or1ad8	T	C	11: 50,898,381 (GRCm39)	I194T	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Pex11b	A	T	3: 96,551,330 (GRCm39)		probably benign	Het
Phtf2	T	C	5: 20,994,593 (GRCm39)		probably benign	Het
Ppip5k1	C	T	2: 121,174,044 (GRCm39)	R359Q	possibly damaging	Het
Prickle2	T	C	6: 92,399,323 (GRCm39)	I185V	probably benign	Het
Prrc2a	G	A	17: 35,377,473 (GRCm39)	P562S	unknown	Het
Rdx	A	G	9: 51,980,141 (GRCm39)	I245V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rhob	T	G	12: 8,549,373 (GRCm39)	D87A	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sbf2	A	G	7: 109,948,060 (GRCm39)		probably null	Het
Sipa1l3	G	T	7: 29,025,287 (GRCm39)	P619Q	probably damaging	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Ston2	T	A	12: 91,606,496 (GRCm39)	*896C	probably null	Het
Stradb	C	T	1: 59,019,117 (GRCm39)	R13*	probably null	Het
Tbx21	G	A	11: 97,005,581 (GRCm39)	A128V	probably benign	Het
Tep1	A	T	14: 51,062,197 (GRCm39)	C2552S	probably benign	Het
Tgif1	A	T	17: 71,151,912 (GRCm39)	V233E	possibly damaging	Het
Trim31	A	T	17: 37,209,633 (GRCm39)	I130L	probably benign	Het
Trrap	C	T	5: 144,728,928 (GRCm39)	T614I	probably benign	Het
Ttn	C	A	2: 76,766,758 (GRCm39)	V3107F	probably damaging	Het
Txnrd2	T	G	16: 18,274,956 (GRCm39)	D322E	probably benign	Het
Unc45b	T	A	11: 82,827,315 (GRCm39)		probably null	Het
Usp43	C	T	11: 67,789,788 (GRCm39)	C252Y	probably damaging	Het
Usp43	A	T	11: 67,766,178 (GRCm39)	L744*	probably null	Het
Vmn2r71	A	C	7: 85,273,402 (GRCm39)	K739Q	possibly damaging	Het
Vps16	C	T	2: 130,284,124 (GRCm39)	T653M	probably benign	Het
Wdr83os	T	A	8: 85,808,495 (GRCm39)	S82R	probably damaging	Het
Xpo6	T	A	7: 125,727,427 (GRCm39)	L526F	probably damaging	Het
Zfhx4	G	A	3: 5,466,894 (GRCm39)	V2351I	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly 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
R0699:Ddx41	UTSW	13	55,679,112 (GRCm39)	splice site	probably benign
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
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'- CTTGCGTGCTGAGAAAAGAAGC -3'
(R):5'- TTCTGAGGAAGACCAGGGAC -3'

Sequencing Primer
(F):5'- AGGAGCACTGCGGCCTAG -3'
(R):5'- CCAGGGACTAGTGAACCTGAGTTC -3'

Posted On

2015-09-24