Mutagenetix > Incidental Mutations

Incidental Mutation 'R5398:Ddx42'

429808

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

042969-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

R5398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106216926-106249139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106224898 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 112 (D112E)

Ref Sequence

ENSEMBL: ENSMUSP00000021046 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021046
AA Change: D112E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: D112E

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

Meta Mutation Damage Score

0.174

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 24,872,579	L34P	possibly damaging	Het
Adam34	A	C	8: 43,651,241	C456G	probably damaging	Het
Anapc15	C	T	7: 101,898,603	P68L	probably damaging	Het
Atp8b3	T	C	10: 80,529,699	D407G	probably damaging	Het
Btbd19	G	A	4: 117,123,760	A104V	probably damaging	Het
Chac1	T	G	2: 119,353,244	L109R	possibly damaging	Het
Csf2rb	A	G	15: 78,348,620	D709G	probably benign	Het
Dnah5	A	G	15: 28,293,726	K1326E	probably benign	Het
Dnajc3	T	A	14: 118,972,387	Y291*	probably null	Het
Dsg2	T	C	18: 20,579,133	F109L	probably benign	Het
Egfl8	T	C	17: 34,614,639		probably benign	Het
Emb	T	A	13: 117,267,552	I280N	probably damaging	Het
Gcc2	C	A	10: 58,269,507	N188K	probably benign	Het
Gdpd4	A	T	7: 97,971,978	H166L	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Itga11	A	G	9: 62,745,923	T360A	probably benign	Het
Kctd1	A	G	18: 15,062,265	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,622,098		probably null	Het
Kif24	T	C	4: 41,394,401	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,781,386		noncoding transcript	Het
Ociad1	T	A	5: 73,310,412	V231E	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr365	C	A	2: 37,201,318	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,266,154	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,515,719	V634L	probably benign	Het
Pcnx2	T	C	8: 125,887,948	K255E	possibly damaging	Het
Pex5l	T	A	3: 32,952,490	I577F	probably damaging	Het
Ppl	A	G	16: 5,104,922	M235T	probably benign	Het
Prl7d1	T	A	13: 27,710,074	I171F	probably damaging	Het
Ptprt	T	C	2: 161,927,592	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,474,998	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,740,500	T11I	probably benign	Het
Rragb	G	A	X: 153,140,554	G24E	probably damaging	Het
Scn9a	T	C	2: 66,488,043	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,298,847	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,597,879	I61N	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Spink12	A	G	18: 44,107,727	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,919,718	I289V	probably benign	Het
Srebf2	A	G	15: 82,171,242	T176A	probably damaging	Het
Syce1l	T	C	8: 113,652,513	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,471,603	I538T	probably benign	Het
Tcte1	C	T	17: 45,539,826	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,652,134	D177A	probably damaging	Het
Thada	T	G	17: 84,426,186	D1011A	probably benign	Het
Tnn	T	A	1: 160,147,522	M112L	probably benign	Het
Traf1	T	C	2: 34,945,435	E325G	probably damaging	Het
Tyw1	T	C	5: 130,277,157		probably benign	Het
Vmn2r111	C	A	17: 22,573,271	M1I	probably null	Het
Wdr11	C	T	7: 129,631,232	T996M	probably damaging	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
R4421:Ddx42	UTSW	11	106231138	missense	probably damaging	1.00
R4696:Ddx42	UTSW	11	106247703	missense	probably benign	0.09
R4953:Ddx42	UTSW	11	106242940	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CCTGCTGGGAATTCTTACTGTG -3'
(R):5'- TGCAATTAACTATTCGCGCCAC -3'

Sequencing Primer
(F):5'- CTGGGAATTCTTACTGTGTAATGC -3'
(R):5'- AATTAACTATTCGCGCCACTCACTG -3'

Posted On

2016-09-06