Mutagenetix > Incidental Mutation

Incidental Mutation 'R7664:Ddx46'

591815

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

045704-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7664 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55782840-55829069 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55806864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 499 (I499S)

Ref Sequence

ENSEMBL: ENSMUSP00000133245 (fasta)

Gene Model

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

AlphaFold

Q569Z5

Predicted Effect

probably damaging
Transcript: ENSMUST00000099479
AA Change: I499S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: I499S

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 damaging
Transcript: ENSMUST00000172272
AA Change: I499S

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

SMART Domains

Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: I499S

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 damaging
Transcript: ENSMUST00000223736
AA Change: I499S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (83/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	T	11: 84,136,175 (GRCm39)	T510I	probably damaging	Het
Akap12	G	T	10: 4,303,748 (GRCm39)	W291L	probably damaging	Het
Akip1	A	T	7: 109,308,187 (GRCm39)	I152F	probably benign	Het
Alpk2	T	A	18: 65,440,073 (GRCm39)	Y440F	probably benign	Het
Aox3	A	G	1: 58,158,698 (GRCm39)	T90A	probably damaging	Het
Arhgef18	A	T	8: 3,436,390 (GRCm39)	E228V	probably damaging	Het
B4galnt4	A	G	7: 140,647,626 (GRCm39)	K405E	probably damaging	Het
BC034090	T	C	1: 155,117,377 (GRCm39)	E247G	probably damaging	Het
Camkk2	A	T	5: 122,894,645 (GRCm39)	F216I	unknown	Het
Carm1	A	C	9: 21,498,286 (GRCm39)	K430T	probably benign	Het
Ccdc13	A	G	9: 121,643,279 (GRCm39)	V374A	probably benign	Het
Cdh26	T	A	2: 178,111,835 (GRCm39)	M465K	probably benign	Het
Ceacam10	A	T	7: 24,477,757 (GRCm39)	M91L	probably benign	Het
Chrnb1	T	C	11: 69,677,850 (GRCm39)	T301A	possibly damaging	Het
Clec4a3	A	G	6: 122,943,381 (GRCm39)	D101G	probably benign	Het
Cmss1	G	A	16: 57,138,310 (GRCm39)	P59S	probably benign	Het
Crhr1	T	A	11: 104,059,968 (GRCm39)	F138L	probably benign	Het
Cxcl5	A	T	5: 90,907,890 (GRCm39)	I107F	probably damaging	Het
Cxcr1	A	G	1: 74,231,834 (GRCm39)	S63P	probably damaging	Het
Cxcr5	A	G	9: 44,424,607 (GRCm39)	L350P	probably benign	Het
D5Ertd579e	A	T	5: 36,771,961 (GRCm39)	H811Q	probably benign	Het
Ddx51	T	G	5: 110,804,785 (GRCm39)		probably null	Het
Dnaja1	C	T	4: 40,724,090 (GRCm39)	P84S	probably benign	Het
Dnajc27	A	G	12: 4,153,132 (GRCm39)	K203E	possibly damaging	Het
Fam107b	T	A	2: 3,571,747 (GRCm39)	C24S	probably damaging	Het
Fancg	T	C	4: 43,010,066 (GRCm39)	K11R	probably benign	Het
Fnip1	T	C	11: 54,356,951 (GRCm39)	L44P	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Heca	A	T	10: 17,778,118 (GRCm39)	L493Q	probably damaging	Het
Hrh2	C	T	13: 54,368,875 (GRCm39)	P284S	probably damaging	Het
Ifnar1	C	G	16: 91,292,082 (GRCm39)	A141G	probably damaging	Het
Igkv6-32	T	A	6: 70,051,282 (GRCm39)	T25S	probably damaging	Het
Inppl1	T	C	7: 101,479,304 (GRCm39)	H525R	probably damaging	Het
Itga2b	A	G	11: 102,351,666 (GRCm39)	L553P	probably damaging	Het
Itgbl1	A	G	14: 124,083,962 (GRCm39)	Y280C	probably damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kcnh4	G	T	11: 100,641,148 (GRCm39)	L434M	probably damaging	Het
Klhl14	T	C	18: 21,687,706 (GRCm39)	D572G	probably damaging	Het
Klhl41	T	A	2: 69,501,061 (GRCm39)	L174Q	probably damaging	Het
Lrp2	T	G	2: 69,337,076 (GRCm39)	H1232P	probably damaging	Het
Lyar	A	G	5: 38,388,161 (GRCm39)	E229G	probably benign	Het
Mark4	A	T	7: 19,177,151 (GRCm39)	L226Q	probably damaging	Het
Mcm8	A	G	2: 132,685,453 (GRCm39)	K823R	probably damaging	Het
Mfsd6	A	T	1: 52,748,212 (GRCm39)	S218T	probably benign	Het
Mlip	A	T	9: 77,045,828 (GRCm39)	I884N	possibly damaging	Het
Mmrn1	A	G	6: 60,953,689 (GRCm39)	T657A	probably benign	Het
Morc2b	A	G	17: 33,355,376 (GRCm39)	Y799H	probably benign	Het
Muc16	A	T	9: 18,519,018 (GRCm39)	I6304N	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Naaladl2	T	C	3: 24,112,303 (GRCm39)	Y593C	probably damaging	Het
Ncor1	T	C	11: 62,289,154 (GRCm39)	E341G	probably damaging	Het
Nrg1	G	T	8: 32,499,169 (GRCm39)		probably null	Het
Nudt3	A	G	17: 27,842,149 (GRCm39)	L4P	probably benign	Het
Odf2l	T	A	3: 144,854,345 (GRCm39)	H493Q	probably benign	Het
Ost4	A	C	5: 31,065,007 (GRCm39)		probably null	Het
Patj	A	T	4: 98,385,187 (GRCm39)	Q840L	possibly damaging	Het
Pcdh20	T	A	14: 88,706,803 (GRCm39)	T166S	probably benign	Het
Pcdhb4	T	A	18: 37,442,293 (GRCm39)	D534E	probably damaging	Het
Pik3ap1	T	C	19: 41,310,069 (GRCm39)	D417G	possibly damaging	Het
Ppwd1	A	T	13: 104,356,798 (GRCm39)	V239E	probably damaging	Het
Prdm9	T	A	17: 15,775,833 (GRCm39)	Y206F	probably damaging	Het
Ranbp6	A	G	19: 29,789,476 (GRCm39)	V292A	possibly damaging	Het
Rgs21	T	A	1: 144,416,987 (GRCm39)	M22L	probably benign	Het
Rnf17	A	T	14: 56,676,335 (GRCm39)	I399F	probably damaging	Het
Rph3a	T	A	5: 121,099,339 (GRCm39)	Q184L	probably benign	Het
Scrn3	T	C	2: 73,149,714 (GRCm39)	Y137H	possibly damaging	Het
Sec14l4	C	A	11: 3,994,178 (GRCm39)	Y342*	probably null	Het
Serpinb11	G	A	1: 107,307,718 (GRCm39)	G383D	probably damaging	Het
Sf3b1	A	G	1: 55,026,626 (GRCm39)	V1261A	probably damaging	Het
Sh3tc2	C	T	18: 62,148,042 (GRCm39)	Q1251*	probably null	Het
Skor1	A	T	9: 63,049,045 (GRCm39)	D845E	probably benign	Het
Slc39a7	A	G	17: 34,248,551 (GRCm39)	L364P	probably damaging	Het
Snrpn	T	C	7: 59,637,239 (GRCm39)	I26V	probably benign	Het
Snx5	A	T	2: 144,099,924 (GRCm39)		probably null	Het
Spag9	T	C	11: 93,992,986 (GRCm39)		probably null	Het
Srrm2	T	C	17: 24,039,955 (GRCm39)	S2200P	probably damaging	Het
Stx11	T	C	10: 12,817,070 (GRCm39)	E218G	probably damaging	Het
Tmem151b	T	C	17: 45,856,861 (GRCm39)	N193S	probably damaging	Het
Tmem87b	A	T	2: 128,690,974 (GRCm39)	D525V	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,782 (GRCm39)	R103S	possibly damaging	Het
Vmn1r196	T	A	13: 22,477,932 (GRCm39)	D190E	probably damaging	Het
Vmn2r67	T	A	7: 84,805,019 (GRCm39)	D31V	probably benign	Het
Zbtb22	T	A	17: 34,137,553 (GRCm39)	M566K	probably benign	Het
Zfp568	A	T	7: 29,721,715 (GRCm39)	H220L	probably benign	Het
Zfp974	A	T	7: 27,610,137 (GRCm39)	S529R	possibly damaging	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
R0270:Ddx46	UTSW	13	55,821,917 (GRCm39)	missense	probably benign	0.00
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
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'- CCATCAGTACTGTAGCAGCC -3'
(R):5'- TCGACCTGCCAAAGACTTATTAG -3'

Sequencing Primer
(F):5'- AGTACTGTAGCAGCCCGAGG -3'
(R):5'- CCTGCCAAAGACTTATTAGTATGTTC -3'

Posted On

2019-11-12