Mutagenetix > Incidental Mutations

Incidental Mutation 'R4552:Ddx19a'

334017

Institutional Source

Beutler Lab

Gene Symbol

Ddx19a

Ensembl Gene

ENSMUSG00000015023

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 19a

Synonyms

Eif4a-rs1, Ddx19, DBP5

MMRRC Submission

041783-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R4552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

110974996-110997800 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 110978566 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 308 (Q308*)

Ref Sequence

ENSEMBL: ENSMUSP00000047898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040416]

Predicted Effect

probably null
Transcript: ENSMUST00000040416
AA Change: Q308*

SMART Domains

Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023
AA Change: Q308*

Domain	Start	End	E-Value	Type
low complexity region	39	53	N/A	INTRINSIC
DEXDc	110	309	8.58e-44	SMART
HELICc	346	433	2.59e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173183

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,779,518		probably benign	Het
Arhgap33	A	T	7: 30,519,108		probably benign	Het
Arid1a	A	C	4: 133,695,699		probably benign	Het
C4bp	A	G	1: 130,636,727	Y407H	possibly damaging	Het
Camta1	T	C	4: 151,792,502	R79G	probably damaging	Het
Caskin1	G	A	17: 24,506,628	S1296N	probably benign	Het
Cep128	T	C	12: 91,294,162	E309G	probably damaging	Het
Chit1	A	G	1: 134,144,051	T100A	probably benign	Het
Dalrd3	A	G	9: 108,572,230	D454G	possibly damaging	Het
Dmxl2	T	C	9: 54,451,763	N395S	probably damaging	Het
Dnah17	T	C	11: 118,052,943	D3125G	possibly damaging	Het
Dnah5	T	C	15: 28,397,154	V3331A	probably benign	Het
Dnah9	T	C	11: 65,841,366	E4238G	probably damaging	Het
Dner	T	C	1: 84,383,857	Y677C	probably damaging	Het
Epgn	A	T	5: 91,027,562	K14*	probably null	Het
Hid1	G	A	11: 115,358,679	T240M	possibly damaging	Het
Igbp1b	T	A	6: 138,658,114	M111L	probably benign	Het
Kif26b	T	A	1: 178,884,035	I740N	probably damaging	Het
Klk4	C	A	7: 43,884,019	H101N	probably benign	Het
Mrgpra2b	C	A	7: 47,464,006	S300I	probably benign	Het
Mtss1l	A	G	8: 110,738,505	T464A	probably damaging	Het
Nbas	T	C	12: 13,335,937		probably null	Het
Nif3l1	C	T	1: 58,449,324		probably benign	Het
Noct	T	A	3: 51,250,168	I309N	probably benign	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Odf2l	A	T	3: 145,151,083	T600S	probably benign	Het
Odf4	C	T	11: 68,922,040	S264N	probably benign	Het
Olfr1391	A	T	11: 49,327,950	M180L	probably benign	Het
Olfr24	A	G	9: 18,755,134	V167A	possibly damaging	Het
Olfr45	A	T	7: 140,691,742	Y279F	probably damaging	Het
Olfr815	T	C	10: 129,902,123	M196V	probably benign	Het
Papolb	T	C	5: 142,529,178	I237V	probably benign	Het
Parpbp	T	A	10: 88,093,702	Q428L	possibly damaging	Het
Pclo	T	C	5: 14,669,271	S1141P	unknown	Het
Plcb1	T	C	2: 135,335,493	S582P	probably benign	Het
Ppargc1a	C	T	5: 51,463,215		probably benign	Het
Ptchd4	A	T	17: 42,502,455	I416L	probably benign	Het
Rhpn1	G	A	15: 75,714,119	R627H	probably benign	Het
Ric8a	G	A	7: 140,861,337	G182S	probably damaging	Het
Rims1	T	C	1: 22,373,494	D895G	probably damaging	Het
Rrp1b	G	A	17: 32,056,010		probably benign	Het
Rtf1	T	A	2: 119,730,729	D636E	probably benign	Het
Scn3a	T	C	2: 65,524,179	D333G	probably benign	Het
Sema6a	A	G	18: 47,291,923	L207P	probably damaging	Het
Shcbp1	A	T	8: 4,749,779	Y160*	probably null	Het
Slc27a1	A	T	8: 71,580,066		probably null	Het
Ston2	C	T	12: 91,641,872	R818Q	probably damaging	Het
Tipin	T	A	9: 64,288,103		probably null	Het
Tjap1	A	T	17: 46,260,027		probably null	Het
Vmn1r117	A	T	7: 20,883,592	F177Y	probably damaging	Het
Vmn1r57	A	G	7: 5,220,668	D64G	possibly damaging	Het
Vmn2r73	T	A	7: 85,875,847	D31V	probably benign	Het
Vmn2r-ps41	A	T	7: 9,177,064		noncoding transcript	Het

Other mutations in Ddx19a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ddx19a	APN	8	110976470	missense	probably benign
IGL01395:Ddx19a	APN	8	110990532	splice site	probably benign
IGL01676:Ddx19a	APN	8	110980989	critical splice donor site	probably null
IGL02243:Ddx19a	APN	8	110976456	missense	probably benign	0.06
IGL02677:Ddx19a	APN	8	110989609	missense	probably benign	0.24
IGL02870:Ddx19a	APN	8	110983626	missense	probably damaging	1.00
R0416:Ddx19a	UTSW	8	110979057	missense	probably damaging	0.96
R1574:Ddx19a	UTSW	8	110993111	splice site	probably benign
R1664:Ddx19a	UTSW	8	110989498	missense	probably damaging	0.99
R4470:Ddx19a	UTSW	8	110976479	missense	probably benign	0.00
R4668:Ddx19a	UTSW	8	110979084	missense	probably damaging	1.00
R4847:Ddx19a	UTSW	8	110977045	missense	probably damaging	1.00
R5390:Ddx19a	UTSW	8	110980631	nonsense	probably null
R5815:Ddx19a	UTSW	8	110979149	nonsense	probably null
R6842:Ddx19a	UTSW	8	110978625	missense	possibly damaging	0.69
R7045:Ddx19a	UTSW	8	110993074	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGAGAATTTGGTCCCTTTGAGTG -3'
(R):5'- GCTGCAGCCCATCTAGAATG -3'

Sequencing Primer
(F):5'- TCCCTTTGAGTGACAGGCTGAAC -3'
(R):5'- CTACCGCCTTGGAATGTTGCAAAG -3'

Posted On

2015-08-18