Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Ddx49'

72556

Institutional Source

Beutler Lab

Gene Symbol

Ddx49

Ensembl Gene

ENSMUSG00000057788

Gene Name

DEAD box helicase 49

Synonyms

R27090_2, DEAD (Asp-Glu-Ala-Asp) box polypeptide 49

MMRRC Submission

038944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70745516-70755121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70749907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 170 (E170G)

Ref Sequence

ENSEMBL: ENSMUSP00000008004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003669] [ENSMUST00000008004] [ENSMUST00000110124] [ENSMUST00000140212]

AlphaFold

Q4FZF3

Predicted Effect

probably benign
Transcript: ENSMUST00000003669

SMART Domains

Protein: ENSMUSP00000003669
Gene: ENSMUSG00000003573

Domain	Start	End	E-Value	Type
WH1	4	110	4.92e-37	SMART
low complexity region	198	210	N/A	INTRINSIC
PDB:3CVF\|D	285	342	2e-10	PDB
low complexity region	343	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000008004
AA Change: E170G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788
AA Change: E170G

Domain	Start	End	E-Value	Type
DEXDc	21	222	1.85e-57	SMART
HELICc	262	343	2.41e-29	SMART
low complexity region	369	383	N/A	INTRINSIC
low complexity region	461	470	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110124

SMART Domains

Protein: ENSMUSP00000105751
Gene: ENSMUSG00000003573

Domain	Start	End	E-Value	Type
WH1	4	110	4.92e-37	SMART
low complexity region	198	210	N/A	INTRINSIC
PDB:3CVF\|D	285	342	2e-10	PDB
low complexity region	343	358	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127094

Predicted Effect

probably benign
Transcript: ENSMUST00000135368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144890

Predicted Effect

probably benign
Transcript: ENSMUST00000140212

SMART Domains

Protein: ENSMUSP00000117033
Gene: ENSMUSG00000003573

Domain	Start	End	E-Value	Type
WH1	4	110	4.92e-37	SMART
low complexity region	198	210	N/A	INTRINSIC
PDB:3CVF\|D	282	339	2e-10	PDB
low complexity region	340	355	N/A	INTRINSIC

Meta Mutation Damage Score

0.1642

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,950,772 (GRCm39)	Y898N	probably damaging	Het
Acp4	T	C	7: 43,901,738 (GRCm39)		probably benign	Het
Adipor2	T	C	6: 119,334,215 (GRCm39)	I332V	probably benign	Het
Ago3	T	A	4: 126,248,885 (GRCm39)	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,753,204 (GRCm39)		probably benign	Het
Ano5	G	T	7: 51,187,590 (GRCm39)		probably benign	Het
Ap3b1	C	T	13: 94,616,387 (GRCm39)		probably benign	Het
Cbl	A	T	9: 44,075,449 (GRCm39)	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,168,136 (GRCm39)	V353L	probably benign	Het
Celsr3	A	G	9: 108,705,017 (GRCm39)	Y500C	probably damaging	Het
Cep162	A	G	9: 87,083,798 (GRCm39)	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,050,152 (GRCm39)	R66W	probably damaging	Het
Fam193a	T	C	5: 34,600,685 (GRCm39)	F305L	probably damaging	Het
Fam76a	C	T	4: 132,638,010 (GRCm39)	G198R	probably damaging	Het
Gm43302	T	A	5: 105,428,355 (GRCm39)	I130F	probably benign	Het
Hectd4	T	A	5: 121,424,832 (GRCm39)	I745N	possibly damaging	Het
Ina	T	A	19: 47,012,087 (GRCm39)	*502K	probably null	Het
Kdm1b	A	T	13: 47,222,079 (GRCm39)	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,659,249 (GRCm39)		probably null	Het
Ly6g2	T	A	15: 75,092,572 (GRCm39)	F97Y	probably benign	Het
Naip5	A	T	13: 100,353,613 (GRCm39)	D1215E	probably benign	Het
Neb	A	G	2: 52,106,879 (GRCm39)		probably benign	Het
Nectin2	T	A	7: 19,483,096 (GRCm39)		probably null	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2aj5	G	T	16: 19,425,182 (GRCm39)	P79T	probably damaging	Het
Or4a71	A	G	2: 89,358,340 (GRCm39)	V138A	probably benign	Het
Osbp	A	G	19: 11,961,520 (GRCm39)		probably benign	Het
Otog	A	G	7: 45,949,918 (GRCm39)	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,056,150 (GRCm39)	C2R	probably damaging	Het
Per2	C	T	1: 91,357,142 (GRCm39)	V674M	probably damaging	Het
Pias3	C	T	3: 96,608,611 (GRCm39)	P218S	probably damaging	Het
Plod3	C	T	5: 137,018,437 (GRCm39)		probably benign	Het
Purb	C	T	11: 6,425,661 (GRCm39)	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,058,022 (GRCm39)	E181*	probably null	Het
Rit2	T	C	18: 31,286,754 (GRCm39)		probably benign	Het
Rnf103	C	A	6: 71,486,566 (GRCm39)	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,037,746 (GRCm39)		probably null	Het
Slc35f4	T	A	14: 49,543,796 (GRCm39)		probably benign	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Tnfrsf17	C	T	16: 11,133,063 (GRCm39)	T47M	possibly damaging	Het
Tram1	A	G	1: 13,649,933 (GRCm39)	I97T	probably damaging	Het
Ttc38	T	C	15: 85,730,604 (GRCm39)		probably benign	Het
Zfp113	T	A	5: 138,143,506 (GRCm39)	Q248L	probably damaging	Het

Other mutations in Ddx49

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00921:Ddx49	APN	8	70,747,406 (GRCm39)	nonsense	probably null
IGL02630:Ddx49	APN	8	70,753,668 (GRCm39)	missense	probably damaging	1.00
R0306:Ddx49	UTSW	8	70,747,322 (GRCm39)	unclassified	probably benign
R0394:Ddx49	UTSW	8	70,749,575 (GRCm39)	missense	probably damaging	0.97
R0421:Ddx49	UTSW	8	70,748,282 (GRCm39)	missense	probably damaging	1.00
R0524:Ddx49	UTSW	8	70,749,574 (GRCm39)	missense	probably damaging	0.98
R1051:Ddx49	UTSW	8	70,747,335 (GRCm39)	critical splice donor site	probably null
R1852:Ddx49	UTSW	8	70,753,633 (GRCm39)	missense	probably damaging	1.00
R2008:Ddx49	UTSW	8	70,748,094 (GRCm39)	missense	probably damaging	1.00
R6216:Ddx49	UTSW	8	70,749,934 (GRCm39)	missense	probably damaging	1.00
R7085:Ddx49	UTSW	8	70,755,133 (GRCm39)	unclassified	probably benign
R7102:Ddx49	UTSW	8	70,753,726 (GRCm39)	missense	probably damaging	1.00
R7648:Ddx49	UTSW	8	70,750,605 (GRCm39)	missense	possibly damaging	0.95
R8126:Ddx49	UTSW	8	70,748,246 (GRCm39)	missense	probably damaging	1.00
R9364:Ddx49	UTSW	8	70,746,226 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGATGATGGAGCAGTCCTCCAGC -3'
(R):5'- GTGTCTGAAAGGCAGGTAGGCTATG -3'

Sequencing Primer
(F):5'- GAAGGGCAGAGCATTCTACCTC -3'
(R):5'- AGGCTATGCTTGGGGCTTTTAC -3'

Posted On

2013-09-30