Mutagenetix > Incidental Mutation

Incidental Mutation 'R8690:Ddx41'

668342

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

068544-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55678223-55684471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55680939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 324 (L324P)

Ref Sequence

ENSEMBL: ENSMUSP00000021956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021956] [ENSMUST00000047877] [ENSMUST00000223563] [ENSMUST00000224765]

AlphaFold

Q91VN6

Predicted Effect

probably damaging
Transcript: ENSMUST00000021956
AA Change: L324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000021956
Gene: ENSMUSG00000021494
AA Change: L324P

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

probably damaging
Transcript: ENSMUST00000224765
AA Change: L335P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	T	A	12: 55,107,957 (GRCm39)	T81S	possibly damaging	Het
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Acbd5	T	A	2: 22,979,710 (GRCm39)	S210T	probably benign	Het
Adam10	T	A	9: 70,655,505 (GRCm39)	F324L	probably damaging	Het
Ak6	A	G	13: 100,791,857 (GRCm39)	N100S	possibly damaging	Het
Angptl3	G	T	4: 98,925,759 (GRCm39)	V362L	probably benign	Het
Ano9	C	A	7: 140,684,220 (GRCm39)	W514L	probably benign	Het
Asb8	T	C	15: 98,034,108 (GRCm39)	Y149C	probably damaging	Het
Bcl6b	C	A	11: 70,117,447 (GRCm39)	A392S	probably damaging	Het
Cad	T	A	5: 31,232,500 (GRCm39)	I1855N	possibly damaging	Het
Calm5	G	A	13: 3,904,277 (GRCm39)	G4R	probably damaging	Het
Carm1	T	C	9: 21,480,808 (GRCm39)	V94A	probably damaging	Het
Ccnl1	A	T	3: 65,855,165 (GRCm39)	S399R	possibly damaging	Het
Cdh17	T	A	4: 11,783,163 (GRCm39)	I168N	probably benign	Het
Ces2g	C	T	8: 105,693,605 (GRCm39)	R429C	probably benign	Het
Chd3	T	C	11: 69,246,648 (GRCm39)		probably benign	Het
Cmtr2	T	A	8: 110,948,977 (GRCm39)	M429K	probably benign	Het
Cnga1	T	G	5: 72,761,835 (GRCm39)	I560L	probably benign	Het
Col6a5	A	G	9: 105,759,796 (GRCm39)	Y1975H	probably damaging	Het
Copb1	T	C	7: 113,849,463 (GRCm39)	I47V	probably benign	Het
Crbn	G	A	6: 106,777,010 (GRCm39)		probably benign	Het
Dhx57	A	G	17: 80,577,794 (GRCm39)		probably benign	Het
Dlgap2	A	T	8: 14,793,430 (GRCm39)	I475F	probably benign	Het
Dock2	T	A	11: 34,618,287 (GRCm39)	K110*	probably null	Het
Dpp7	T	C	2: 25,245,645 (GRCm39)	D147G	probably damaging	Het
Dync2h1	G	T	9: 7,075,824 (GRCm39)	D3014E	probably damaging	Het
Efcab5	A	T	11: 76,994,115 (GRCm39)	F1291I	probably damaging	Het
Endov	T	A	11: 119,382,736 (GRCm39)	V61D	probably benign	Het
Etv3	C	A	3: 87,443,786 (GRCm39)	P457T	possibly damaging	Het
Fam185a	T	A	5: 21,638,766 (GRCm39)	H199Q	probably benign	Het
Fat3	T	A	9: 15,878,397 (GRCm39)	E3361D	probably benign	Het
Fbn1	T	C	2: 125,186,015 (GRCm39)		probably benign	Het
Gm17079	A	T	14: 51,932,787 (GRCm39)	W37R		Het
Gpr68	T	C	12: 100,845,292 (GRCm39)	H84R	probably benign	Het
Gramd1b	A	T	9: 40,215,674 (GRCm39)	S725R	probably damaging	Het
Greb1	T	A	12: 16,746,548 (GRCm39)	T1241S	probably benign	Het
Hcn4	T	C	9: 58,751,193 (GRCm39)	M273T	probably benign	Het
Hdlbp	A	G	1: 93,341,640 (GRCm39)	V973A	probably damaging	Het
Ighv8-11	A	T	12: 115,531,164 (GRCm39)		probably benign	Het
Itpkb	A	T	1: 180,249,346 (GRCm39)	Q907L	probably benign	Het
Lmo7	T	A	14: 102,168,644 (GRCm39)	N1634K	unknown	Het
Lrrk1	C	A	7: 65,952,477 (GRCm39)	L486F	probably benign	Het
Mdfic	G	A	6: 15,799,653 (GRCm39)	C260Y	probably damaging	Het
Mdh2	T	C	5: 135,814,882 (GRCm39)	I140T	probably benign	Het
Myo9a	T	C	9: 59,782,657 (GRCm39)	V1775A	probably benign	Het
Or1j14	T	C	2: 36,418,207 (GRCm39)	V261A	probably benign	Het
Or51d1	C	A	7: 102,348,028 (GRCm39)	D194E	probably damaging	Het
Or52n3	T	C	7: 104,530,762 (GRCm39)	Y283H	probably damaging	Het
P2rx2	C	T	5: 110,490,380 (GRCm39)	V112I	probably damaging	Het
Psme4	T	A	11: 30,787,319 (GRCm39)	V1038E	probably benign	Het
Rab25	T	A	3: 88,452,388 (GRCm39)	R73S	probably damaging	Het
Rab8a	TA	TAA	8: 72,925,130 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,308,955 (GRCm39)	Y729H		Het
Rnf213	A	G	11: 119,332,038 (GRCm39)	T2417A		Het
Rnft2	C	A	5: 118,366,935 (GRCm39)	A268S	probably benign	Het
Samhd1	T	C	2: 156,971,794 (GRCm39)	D116G	probably benign	Het
Sema6d	T	A	2: 124,506,937 (GRCm39)	V915E	probably benign	Het
Sp140l2	G	A	1: 85,235,170 (GRCm39)	H130Y	probably benign	Het
Srcin1	C	A	11: 97,414,368 (GRCm39)	R1045L	probably damaging	Het
St18	T	A	1: 6,872,788 (GRCm39)	N174K	probably benign	Het
Stac3	G	A	10: 127,339,494 (GRCm39)	C130Y	probably damaging	Het
Stum	G	C	1: 180,310,740 (GRCm39)	P52R	probably damaging	Het
Tbc1d2	C	T	4: 46,615,106 (GRCm39)	E526K	possibly damaging	Het
Tiam1	A	G	16: 89,694,900 (GRCm39)	S186P	probably damaging	Het
Tiparp	G	C	3: 65,460,963 (GRCm39)	V651L	probably benign	Het
Tmem19	C	T	10: 115,179,765 (GRCm39)	G244S	probably damaging	Het
Trip11	A	T	12: 101,839,656 (GRCm39)	V1658D	possibly damaging	Het
Ttyh3	A	C	5: 140,612,944 (GRCm39)	Y453D	probably damaging	Het
Ttyh3	G	T	5: 140,612,945 (GRCm39)	S452R	probably benign	Het
Ube2h	C	T	6: 30,262,338 (GRCm39)		probably benign	Het
Zbtb4	T	C	11: 69,667,618 (GRCm39)	S308P	probably damaging	Het
Zfyve1	T	C	12: 83,597,681 (GRCm39)	E672G	probably damaging	Het
Zswim5	G	A	4: 116,842,002 (GRCm39)	D861N	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
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
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
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'- TGCAGCTCAGCATGCAGTAC -3'
(R):5'- CATGACAAAGTAAGTGCTAGCCAG -3'

Sequencing Primer
(F):5'- ACATGAGTGTATTTACATGCAGGG -3'
(R):5'- AGGTCTAGCCCTTACTAATAAGCTGC -3'

Posted On

2021-04-30