Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Ddx49'

48784

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

038717-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R0524 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

70745516-70755121 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70749574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 252 (I252N)

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 damaging
Transcript: ENSMUST00000008004
AA Change: I252N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788
AA Change: I252N

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

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,574,624 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,949,013 (GRCm39)	E216G	probably benign	Het
Aoc3	C	A	11: 101,228,337 (GRCm39)	P715T	probably damaging	Het
Bnipl	T	C	3: 95,157,140 (GRCm39)	D33G	probably benign	Het
Celsr2	T	C	3: 108,308,903 (GRCm39)	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,531,082 (GRCm39)	H756L	probably benign	Het
Clca4a	A	G	3: 144,675,154 (GRCm39)	W159R	probably damaging	Het
Duox2	T	C	2: 122,112,317 (GRCm39)	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,565,412 (GRCm39)	I431K	probably damaging	Het
Fam135b	A	T	15: 71,334,133 (GRCm39)	D1020E	probably benign	Het
Flii	A	G	11: 60,610,887 (GRCm39)	V514A	probably damaging	Het
Frmpd1	A	G	4: 45,283,774 (GRCm39)	D865G	probably benign	Het
Frmpd1	G	A	4: 45,256,902 (GRCm39)	V157M	probably damaging	Het
Gsr	G	A	8: 34,159,208 (GRCm39)		probably null	Het
H1f11-ps	T	A	19: 47,158,933 (GRCm39)	K214M	unknown	Het
Hps3	A	T	3: 20,066,940 (GRCm39)	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,234,270 (GRCm39)	I15T	probably benign	Het
Kif2b	T	C	11: 91,466,550 (GRCm39)	R578G	probably benign	Het
Lamb2	A	G	9: 108,361,571 (GRCm39)	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,692,302 (GRCm39)	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,146,477 (GRCm39)	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,306,474 (GRCm39)	W69R	probably benign	Het
Nsd3	C	A	8: 26,190,605 (GRCm39)	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,189,384 (GRCm39)	S150P	probably damaging	Het
Or2g1	A	T	17: 38,106,496 (GRCm39)	K54*	probably null	Het
Or5b116	A	G	19: 13,423,228 (GRCm39)	N284S	probably damaging	Het
Pask	A	T	1: 93,238,556 (GRCm39)	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,710,091 (GRCm39)	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,029,488 (GRCm39)	I700V	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,330,401 (GRCm39)	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,310,833 (GRCm39)	R142*	probably null	Het
Pygl	T	A	12: 70,254,498 (GRCm39)	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,581,110 (GRCm39)	S1285T	probably benign	Het
Rdh13	A	C	7: 4,447,296 (GRCm39)	C10W	probably damaging	Het
Rgr	A	T	14: 36,760,252 (GRCm39)	C273S	probably benign	Het
Ripk4	G	T	16: 97,556,487 (GRCm39)	Y22*	probably null	Het
Slc34a2	G	A	5: 53,222,215 (GRCm39)	W302*	probably null	Het
Smarce1	G	A	11: 99,104,888 (GRCm39)	T263M	probably damaging	Het
Sypl1	C	T	12: 33,017,564 (GRCm39)	P94L	possibly damaging	Het
Tet3	A	G	6: 83,356,924 (GRCm39)	I878T	probably damaging	Het
Tmem232	A	G	17: 65,792,937 (GRCm39)	S87P	probably damaging	Het
Tmem260	A	G	14: 48,709,935 (GRCm39)	T163A	probably benign	Het
Ttn	T	C	2: 76,555,796 (GRCm39)	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 40,927,904 (GRCm39)	M468K	probably benign	Het
Ulk4	A	G	9: 121,081,717 (GRCm39)		probably null	Het
Vmn1r72	A	G	7: 11,403,719 (GRCm39)	F243S	probably benign	Het
Wrap73	A	G	4: 154,229,764 (GRCm39)	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,674,424 (GRCm39)	D119G	unknown	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	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
R0764:Ddx49	UTSW	8	70,749,907 (GRCm39)	missense	probably benign	0.01
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'- TGTGAGCCTCTCAAAGCCAGAACC -3'
(R):5'- AGGTAGAATGCTCTGCCCTTCCAC -3'

Sequencing Primer
(F):5'- ttttcttgtttgagtcagggc -3'
(R):5'- TCCACCTCCAGAGTCCG -3'

Posted On

2013-06-12