Mutagenetix > Incidental Mutation

Incidental Mutation 'R0270:Ddx46'

35250

Institutional Source

Beutler Lab

Gene Symbol

Ddx46

Ensembl Gene

ENSMUSG00000021500

Gene Name

DEAD box helicase 46

Synonyms

8430438J23Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 46, 2200005K02Rik

MMRRC Submission

038496-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R0270 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

55782840-55829069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55821917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 863 (I863T)

Ref Sequence

ENSEMBL: ENSMUSP00000097078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099479] [ENSMUST00000172272] [ENSMUST00000223736]

AlphaFold

Q569Z5

Predicted Effect

probably benign
Transcript: ENSMUST00000099479
AA Change: I863T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: I863T

Domain	Start	End	E-Value	Type
low complexity region	9	109	N/A	INTRINSIC
Blast:DEXDc	110	348	4e-76	BLAST
DEXDc	391	592	3.27e-49	SMART
HELICc	629	710	1.55e-27	SMART
low complexity region	760	776	N/A	INTRINSIC
low complexity region	798	813	N/A	INTRINSIC
internal_repeat_1	855	894	6.68e-7	PROSPERO
low complexity region	911	925	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172272
AA Change: I867T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: I867T

Domain	Start	End	E-Value	Type
low complexity region	9	109	N/A	INTRINSIC
Blast:DEXDc	110	348	5e-76	BLAST
DEXDc	391	596	8.03e-67	SMART
HELICc	633	714	1.55e-27	SMART
low complexity region	764	780	N/A	INTRINSIC
low complexity region	802	817	N/A	INTRINSIC
internal_repeat_1	859	898	1.04e-6	PROSPERO
low complexity region	915	929	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223736
AA Change: I867T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224551

Predicted Effect

unknown
Transcript: ENSMUST00000231097
AA Change: I133T

Meta Mutation Damage Score

0.0597

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 96.0%
20x: 93.2%

Validation Efficiency

99% (113/114)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. 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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,093,906 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,440 (GRCm39)	N304K	probably benign	Het
Abcf3	T	A	16: 20,378,918 (GRCm39)		probably null	Het
Acadm	C	T	3: 153,641,961 (GRCm39)	M190I	possibly damaging	Het
Adamtsl3	G	A	7: 82,206,032 (GRCm39)	R739Q	probably damaging	Het
Ank1	T	A	8: 23,578,941 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,540,626 (GRCm39)		probably benign	Het
Arhgdib	A	G	6: 136,903,732 (GRCm39)	V31A	probably damaging	Het
Arid4a	A	G	12: 71,119,406 (GRCm39)	R342G	probably damaging	Het
Asic3	C	T	5: 24,622,700 (GRCm39)	L517F	probably benign	Het
Atxn7l1	C	T	12: 33,392,150 (GRCm39)	P242L	possibly damaging	Het
AY761185	T	A	8: 21,434,616 (GRCm39)	E37D	possibly damaging	Het
Babam1	T	A	8: 71,851,050 (GRCm39)	D104E	probably damaging	Het
Batf	A	T	12: 85,755,446 (GRCm39)	T100S	probably benign	Het
Blcap	A	T	2: 157,399,897 (GRCm39)	Y59*	probably null	Het
Cacnb3	G	A	15: 98,540,440 (GRCm39)	A350T	probably damaging	Het
Cdk15	T	A	1: 59,349,965 (GRCm39)	V319D	probably damaging	Het
Cenpf	T	C	1: 189,382,911 (GRCm39)	H2661R	probably benign	Het
Cenpq	T	C	17: 41,240,941 (GRCm39)	E106G	probably damaging	Het
Cfap43	A	G	19: 47,785,642 (GRCm39)		probably benign	Het
Cfb	G	A	17: 35,079,362 (GRCm39)	S778L	possibly damaging	Het
Clec2m	A	T	6: 129,302,571 (GRCm39)	L152*	probably null	Het
Clspn	T	A	4: 126,467,029 (GRCm39)	N631K	probably damaging	Het
Cntn2	T	A	1: 132,449,462 (GRCm39)	T660S	probably damaging	Het
Cntrob	T	A	11: 69,202,167 (GRCm39)	H475L	possibly damaging	Het
Dnah11	G	A	12: 118,004,748 (GRCm39)	T2191I	probably damaging	Het
Dock9	T	C	14: 121,813,411 (GRCm39)	T1703A	probably benign	Het
Fam13c	C	T	10: 70,380,343 (GRCm39)	P424S	probably benign	Het
Fan1	T	C	7: 63,998,619 (GRCm39)	N968D	probably benign	Het
Fbxl20	A	T	11: 97,989,329 (GRCm39)		probably benign	Het
Fkbp1b	A	T	12: 4,888,229 (GRCm39)		probably benign	Het
G930045G22Rik	T	A	6: 50,824,039 (GRCm39)		noncoding transcript	Het
Gm28042	C	A	2: 119,872,073 (GRCm39)	R1008S	probably benign	Het
Gon4l	G	A	3: 88,765,707 (GRCm39)	S376N	probably damaging	Het
Gstt3	C	A	10: 75,616,749 (GRCm39)	R15L	probably damaging	Het
Gtdc1	A	T	2: 44,642,186 (GRCm39)	S73T	possibly damaging	Het
Hhatl	A	G	9: 121,613,786 (GRCm39)	S419P	probably benign	Het
Hirip3	T	G	7: 126,462,363 (GRCm39)	S46R	probably damaging	Het
Hsf2	A	G	10: 57,378,735 (GRCm39)	T204A	probably benign	Het
Impg2	G	A	16: 56,089,378 (GRCm39)	E1108K	possibly damaging	Het
Itgb2l	G	T	16: 96,224,130 (GRCm39)		probably benign	Het
Itih5	A	T	2: 10,256,075 (GRCm39)	N847I	probably benign	Het
Kif1a	T	C	1: 92,982,164 (GRCm39)		probably benign	Het
Klhl1	T	A	14: 96,755,780 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,952,119 (GRCm39)	D963E	probably benign	Het
Lclat1	T	A	17: 73,547,022 (GRCm39)	V313E	probably benign	Het
Lrrn4	T	C	2: 132,712,639 (GRCm39)	S395G	probably benign	Het
Macroh2a1	G	A	13: 56,243,927 (GRCm39)		probably benign	Het
Mbtps1	G	A	8: 120,264,856 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,478,257 (GRCm39)		probably benign	Het
Mov10	C	A	3: 104,702,721 (GRCm39)	C948F	probably benign	Het
Mterf1a	G	A	5: 3,940,990 (GRCm39)	Q293*	probably null	Het
Nfkb2	A	T	19: 46,300,065 (GRCm39)	M838L	possibly damaging	Het
Nhlrc2	T	A	19: 56,540,302 (GRCm39)	L97Q	probably damaging	Het
Nr6a1	A	T	2: 38,629,032 (GRCm39)	Y331N	possibly damaging	Het
Nup214	C	T	2: 31,924,826 (GRCm39)	A1785V	probably damaging	Het
Ogg1	C	T	6: 113,306,217 (GRCm39)	T138I	probably benign	Het
Or5ac20	A	G	16: 59,104,116 (GRCm39)	V248A	probably damaging	Het
Or5b107	A	G	19: 13,143,251 (GRCm39)	Y291C	probably damaging	Het
Or5b124	A	G	19: 13,611,048 (GRCm39)	Y191C	probably damaging	Het
Or7g17	T	A	9: 18,768,127 (GRCm39)	Y60N	probably damaging	Het
Plod2	G	T	9: 92,466,574 (GRCm39)	R178L	probably benign	Het
Polr3b	T	A	10: 84,554,339 (GRCm39)	L1017Q	probably benign	Het
Postn	C	A	3: 54,291,971 (GRCm39)	T724N	probably damaging	Het
Ppm1l	T	G	3: 69,225,309 (GRCm39)		probably benign	Het
Prpf8	T	G	11: 75,396,075 (GRCm39)	L1983R	probably damaging	Het
Psma7	A	G	2: 179,681,193 (GRCm39)	V59A	probably benign	Het
Qser1	T	A	2: 104,619,306 (GRCm39)	Y502F	probably benign	Het
Rad50	T	C	11: 53,558,852 (GRCm39)	D1129G	probably damaging	Het
Rasal1	C	A	5: 120,812,794 (GRCm39)	P606Q	probably damaging	Het
Rgs6	A	G	12: 83,180,463 (GRCm39)	Y438C	probably damaging	Het
Rnf180	A	G	13: 105,388,774 (GRCm39)	C73R	probably benign	Het
Rnf216	T	A	5: 143,065,996 (GRCm39)	I474F	possibly damaging	Het
Sdha	A	T	13: 74,480,366 (GRCm39)	L371Q	probably damaging	Het
Sdk1	T	G	5: 142,070,321 (GRCm39)	L1162R	possibly damaging	Het
Sh3rf2	T	C	18: 42,237,146 (GRCm39)	I223T	probably damaging	Het
Sirpb1a	A	G	3: 15,475,587 (GRCm39)	V316A	probably damaging	Het
Slc12a4	A	T	8: 106,672,021 (GRCm39)	I897N	probably benign	Het
Slc35d1	A	T	4: 103,048,035 (GRCm39)	V243E	probably damaging	Het
Slc4a11	T	A	2: 130,532,852 (GRCm39)	K200N	possibly damaging	Het
Slc9a8	T	A	2: 167,293,216 (GRCm39)	M188K	probably damaging	Het
Slco1a8	T	A	6: 141,918,137 (GRCm39)	I580F	possibly damaging	Het
Snrnp200	T	C	2: 127,074,902 (GRCm39)	S1492P	probably damaging	Het
Sphk2	T	C	7: 45,360,149 (GRCm39)	*618W	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tdpoz3	A	G	3: 93,734,231 (GRCm39)	N302S	probably benign	Het
Tdrd6	T	C	17: 43,935,199 (GRCm39)	M1950V	probably benign	Het
Tmem39a	A	G	16: 38,384,675 (GRCm39)		probably benign	Het
Trip4	A	T	9: 65,765,640 (GRCm39)	I353K	probably damaging	Het
Trip6	A	T	5: 137,311,103 (GRCm39)	F204L	probably benign	Het
Trpm4	T	A	7: 44,968,677 (GRCm39)	I419F	possibly damaging	Het
Ttn	C	A	2: 76,775,140 (GRCm39)	E1967D	probably damaging	Het
Uba2	C	T	7: 33,850,281 (GRCm39)	V391M	possibly damaging	Het
Ubr4	T	G	4: 139,206,746 (GRCm39)		probably benign	Het
Upf1	G	A	8: 70,788,295 (GRCm39)		probably benign	Het
Vmn1r228	A	C	17: 20,996,858 (GRCm39)	V220G	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,594 (GRCm39)	M429V	probably benign	Het
Vps36	C	T	8: 22,700,472 (GRCm39)	T210I	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Ybx1	C	T	4: 119,138,788 (GRCm39)	G126D	probably benign	Het
Yipf5	C	A	18: 40,339,460 (GRCm39)		probably benign	Het
Zbtb47	A	G	9: 121,596,641 (GRCm39)	T666A	probably benign	Het
Zdhhc5	A	C	2: 84,520,459 (GRCm39)	S573A	probably benign	Het
Zfp457	A	T	13: 67,441,991 (GRCm39)	C99S	probably damaging	Het
Zfp52	T	A	17: 21,781,564 (GRCm39)	C471S	probably damaging	Het
Zfp558	C	T	9: 18,379,252 (GRCm39)	V71I	probably damaging	Het
Zfp655	A	G	5: 145,181,267 (GRCm39)	Y375C	probably damaging	Het
Zfp882	A	T	8: 72,668,459 (GRCm39)	T429S	probably benign	Het
Zmym2	T	C	14: 57,187,141 (GRCm39)		probably null	Het

Other mutations in Ddx46

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Ddx46	APN	13	55,814,145 (GRCm39)	nonsense	probably null
IGL01137:Ddx46	APN	13	55,817,530 (GRCm39)	nonsense	probably null
IGL01432:Ddx46	APN	13	55,785,835 (GRCm39)	splice site	probably benign
IGL01575:Ddx46	APN	13	55,801,996 (GRCm39)	splice site	probably benign
IGL01673:Ddx46	APN	13	55,800,861 (GRCm39)	missense	probably damaging	1.00
IGL01868:Ddx46	APN	13	55,787,683 (GRCm39)	nonsense	probably null
IGL01945:Ddx46	APN	13	55,802,885 (GRCm39)	nonsense	probably null
IGL02106:Ddx46	APN	13	55,825,416 (GRCm39)	unclassified	probably benign
IGL03288:Ddx46	APN	13	55,785,907 (GRCm39)	missense	unknown
immersion	UTSW	13	55,823,892 (GRCm39)	missense	probably damaging	1.00
steeped	UTSW	13	55,798,291 (GRCm39)	missense	probably damaging	1.00
R0631:Ddx46	UTSW	13	55,787,590 (GRCm39)	splice site	probably benign
R1082:Ddx46	UTSW	13	55,802,909 (GRCm39)	missense	possibly damaging	0.87
R1502:Ddx46	UTSW	13	55,811,122 (GRCm39)	missense	possibly damaging	0.89
R2081:Ddx46	UTSW	13	55,821,829 (GRCm39)	missense	probably benign	0.00
R2256:Ddx46	UTSW	13	55,795,521 (GRCm39)	missense	possibly damaging	0.50
R4366:Ddx46	UTSW	13	55,811,049 (GRCm39)	missense	probably benign	0.10
R4856:Ddx46	UTSW	13	55,786,012 (GRCm39)	missense	unknown
R4886:Ddx46	UTSW	13	55,786,012 (GRCm39)	missense	unknown
R5001:Ddx46	UTSW	13	55,800,732 (GRCm39)	missense	probably damaging	0.98
R5152:Ddx46	UTSW	13	55,806,843 (GRCm39)	missense	probably damaging	1.00
R5258:Ddx46	UTSW	13	55,800,837 (GRCm39)	missense	possibly damaging	0.95
R5278:Ddx46	UTSW	13	55,823,851 (GRCm39)	missense	probably damaging	0.97
R5806:Ddx46	UTSW	13	55,811,150 (GRCm39)	missense	possibly damaging	0.93
R6627:Ddx46	UTSW	13	55,800,748 (GRCm39)	missense	probably benign	0.15
R6659:Ddx46	UTSW	13	55,817,537 (GRCm39)	missense	probably damaging	1.00
R6838:Ddx46	UTSW	13	55,787,748 (GRCm39)	critical splice donor site	probably null
R7235:Ddx46	UTSW	13	55,811,053 (GRCm39)	missense	probably benign	0.01
R7537:Ddx46	UTSW	13	55,798,291 (GRCm39)	missense	probably damaging	1.00
R7664:Ddx46	UTSW	13	55,806,864 (GRCm39)	missense	probably damaging	1.00
R7673:Ddx46	UTSW	13	55,806,972 (GRCm39)	missense	probably benign	0.01
R7704:Ddx46	UTSW	13	55,821,832 (GRCm39)	missense	probably benign	0.00
R7943:Ddx46	UTSW	13	55,817,535 (GRCm39)	missense	probably damaging	1.00
R8188:Ddx46	UTSW	13	55,814,029 (GRCm39)	missense	possibly damaging	0.95
R8324:Ddx46	UTSW	13	55,811,727 (GRCm39)	missense	probably damaging	1.00
R8880:Ddx46	UTSW	13	55,814,033 (GRCm39)	missense	probably benign	0.07
R9059:Ddx46	UTSW	13	55,799,921 (GRCm39)	missense	probably benign	0.00
R9141:Ddx46	UTSW	13	55,823,892 (GRCm39)	missense	probably damaging	1.00
R9167:Ddx46	UTSW	13	55,802,915 (GRCm39)	missense	probably null	1.00
R9199:Ddx46	UTSW	13	55,825,342 (GRCm39)	missense	probably damaging	1.00
R9295:Ddx46	UTSW	13	55,811,599 (GRCm39)	missense	possibly damaging	0.95
R9613:Ddx46	UTSW	13	55,787,749 (GRCm39)	critical splice donor site	probably null
R9703:Ddx46	UTSW	13	55,824,635 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- tcgccagcccTCGGTTAGTATTTC -3'
(R):5'- agcaGTGTCTGAAGCACACTTTCAC -3'

Sequencing Primer
(F):5'- cagcccTCGGTTAGTATTTCTAATG -3'
(R):5'- gtaggaagtagacaggaggataag -3'

Posted On

2013-05-09