Mutagenetix > Incidental Mutations

Incidental Mutation 'R4421:Ddx42'

327111

Institutional Source

Beutler Lab

Gene Symbol

Ddx42

Ensembl Gene

ENSMUSG00000020705

Gene Name

DEAD (Asp-Glu-Ala-Asp) box polypeptide 42

Synonyms

B430002H05Rik, SF3b125, 1810047H21Rik

MMRRC Submission

041142-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106216926-106249139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106231138 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 160 (Y160N)

Ref Sequence

ENSEMBL: ENSMUSP00000021046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021046]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021046
AA Change: Y160N

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

SMART Domains

Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: Y160N

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
low complexity region	35	52	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
low complexity region	108	114	N/A	INTRINSIC
coiled coil region	116	143	N/A	INTRINSIC
low complexity region	149	158	N/A	INTRINSIC
DEXDc	272	474	7.61e-68	SMART
HELICc	512	593	1.58e-33	SMART
low complexity region	644	659	N/A	INTRINSIC
low complexity region	722	737	N/A	INTRINSIC
low complexity region	814	838	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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 Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and 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. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	G	C	9: 106,435,713		probably null	Het
Adgrv1	T	C	13: 81,566,302	E234G	probably damaging	Het
Aga	T	C	8: 53,511,826	S8P	probably benign	Het
C1s2	T	C	6: 124,625,215	D673G	probably benign	Het
Capza3	G	A	6: 140,042,042	M122I	probably benign	Het
Cfap44	T	C	16: 44,422,437	S735P	probably damaging	Het
Cntn3	A	G	6: 102,464,547	F13L	probably damaging	Het
Col6a5	A	T	9: 105,928,473	M1078K	unknown	Het
Colgalt2	A	T	1: 152,485,012	I267F	probably damaging	Het
Cpped1	T	C	16: 11,805,357	*299W	probably null	Het
Cyp3a59	A	G	5: 146,104,903		probably null	Het
Dhx35	A	T	2: 158,806,401	R60W	probably damaging	Het
Gbp10	T	C	5: 105,224,651		probably null	Het
Gtf2i	T	C	5: 134,255,037	T467A	possibly damaging	Het
Hip1r	G	C	5: 123,997,862	G542A	possibly damaging	Het
Hspg2	G	A	4: 137,548,122	A2748T	probably benign	Het
Kcnq3	T	C	15: 65,995,511	Y761C	probably benign	Het
Krt13	T	G	11: 100,118,935	T340P	possibly damaging	Het
Map2k5	A	G	9: 63,164,130	C435R	probably damaging	Het
Ms4a4c	T	A	19: 11,416,375	I53K	probably damaging	Het
Myh15	T	A	16: 49,109,344	F544L	probably damaging	Het
Neurod2	G	T	11: 98,328,200	S46*	probably null	Het
Nsd3	T	A	8: 25,641,272	S218T	probably damaging	Het
Olfr1184	A	T	2: 88,487,241	N170Y	probably damaging	Het
Olfr706	G	T	7: 106,886,453	D121E	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Prrg3	A	T	X: 71,967,309	S141C	probably damaging	Het
Ranbp17	A	T	11: 33,475,056	D433E	probably benign	Het
Rbm28	T	C	6: 29,154,837	D278G	probably damaging	Het
Sbpl	A	G	17: 23,954,886	L8P	unknown	Het
Spopl	C	T	2: 23,517,945	V241M	probably damaging	Het
Tdrd3	A	G	14: 87,486,283	E311G	probably damaging	Het
Tma16	C	T	8: 66,484,171		probably null	Het
Ubr4	A	G	4: 139,461,856	N3917D	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vmn2r72	T	C	7: 85,738,500	N619D	probably damaging	Het
Xab2	C	A	8: 3,614,244		probably null	Het

Other mutations in Ddx42

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00719:Ddx42	APN	11	106235749	missense	probably damaging	0.98
IGL00833:Ddx42	APN	11	106231178	missense	possibly damaging	0.52
IGL01095:Ddx42	APN	11	106247499	missense	probably damaging	1.00
IGL01651:Ddx42	APN	11	106248029	missense	probably benign	0.00
IGL01715:Ddx42	APN	11	106224275	missense	probably damaging	1.00
IGL02097:Ddx42	APN	11	106239160	missense	probably benign	0.00
IGL03182:Ddx42	APN	11	106247527	missense	probably benign
P0045:Ddx42	UTSW	11	106231272	missense	probably damaging	1.00
R0504:Ddx42	UTSW	11	106247849	missense	probably benign	0.03
R0646:Ddx42	UTSW	11	106232833	missense	probably benign	0.00
R2277:Ddx42	UTSW	11	106242939	missense	probably damaging	1.00
R2279:Ddx42	UTSW	11	106242939	missense	probably damaging	1.00
R2297:Ddx42	UTSW	11	106242939	missense	probably damaging	1.00
R2336:Ddx42	UTSW	11	106231150	missense	possibly damaging	0.56
R2519:Ddx42	UTSW	11	106245329	missense	probably damaging	1.00
R3413:Ddx42	UTSW	11	106247810	missense	probably benign	0.00
R3498:Ddx42	UTSW	11	106231193	missense	possibly damaging	0.90
R3883:Ddx42	UTSW	11	106247692	missense	probably benign	0.03
R4696:Ddx42	UTSW	11	106247703	missense	probably benign	0.09
R4953:Ddx42	UTSW	11	106242940	missense	probably damaging	1.00
R5398:Ddx42	UTSW	11	106224898	missense	probably benign
R5669:Ddx42	UTSW	11	106241819	missense	probably damaging	1.00
R6091:Ddx42	UTSW	11	106234970	missense	probably damaging	1.00
R6139:Ddx42	UTSW	11	106240017	missense	probably damaging	1.00
R6643:Ddx42	UTSW	11	106228820	missense	probably benign	0.14
R6991:Ddx42	UTSW	11	106239144	missense	probably damaging	1.00
R7351:Ddx42	UTSW	11	106247682	missense	probably benign
R7502:Ddx42	UTSW	11	106247739	missense	probably benign	0.00
R7792:Ddx42	UTSW	11	106236996	missense	probably damaging	1.00
R8145:Ddx42	UTSW	11	106240061	missense	possibly damaging	0.52
R8425:Ddx42	UTSW	11	106247724	missense	probably benign
RF018:Ddx42	UTSW	11	106232804	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCCCCACAAACAGGAAGG -3'
(R):5'- TTTCTGATCCAACCACTTAGCAG -3'

Sequencing Primer
(F):5'- CCACAAACAGGAAGGCTTCTG -3'
(R):5'- ACCACTTAGCAGAAATAAAGATTCC -3'

Posted On

2015-07-07