Mutagenetix > Incidental Mutations

Incidental Mutation 'R3413:Ddx42'

267818

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

040631-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106216926-106249139 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106247810 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 812 (T812A)

Ref Sequence

ENSEMBL: ENSMUSP00000021046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021046] [ENSMUST00000021048]

Predicted Effect

probably benign
Transcript: ENSMUST00000021046
AA Change: T812A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: T812A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021048

SMART Domains

Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706

Domain	Start	End	E-Value	Type
Pfam:FtsJ	24	200	2.8e-56	PFAM
low complexity region	203	218	N/A	INTRINSIC
Pfam:DUF3381	231	398	1.3e-48	PFAM
low complexity region	456	475	N/A	INTRINSIC
low complexity region	560	568	N/A	INTRINSIC
Pfam:Spb1_C	597	831	1.8e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154635

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (48/49)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	C	8: 9,987,387		probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Axin1	A	G	17: 26,188,038	H535R	probably damaging	Het
Ccnb3	T	A	X: 7,007,801	E846D	probably benign	Het
Cdca7	G	A	2: 72,485,287	G365R	probably damaging	Het
Clvs2	T	A	10: 33,622,971		probably benign	Het
Coq10a	A	G	10: 128,365,129	V93A	possibly damaging	Het
Eya1	T	A	1: 14,274,209		probably null	Het
Fcna	G	C	2: 25,627,493	P49A	probably damaging	Het
Gckr	T	A	5: 31,300,867		probably null	Het
Golgb1	A	G	16: 36,887,347	K68E	probably damaging	Het
Got1l1	A	G	8: 27,199,836		probably null	Het
Hip1	T	C	5: 135,422,172	E451G	probably damaging	Het
Hs6st2	C	T	X: 51,681,455	V50I	possibly damaging	Het
Ighv1-23	C	T	12: 114,764,467	V112I	probably benign	Het
Map1s	A	G	8: 70,912,519	N107D	probably damaging	Het
Mmel1	T	A	4: 154,889,586	V361D	probably damaging	Het
Myh15	A	G	16: 49,138,732	D989G	probably benign	Het
Myo1g	G	T	11: 6,517,870	H188Q	possibly damaging	Het
Nup210	G	T	6: 91,025,242	Q755K	probably benign	Het
Olfr114	A	G	17: 37,589,696	V219A	probably benign	Het
Olfr638	A	G	7: 104,003,832	M186V	probably damaging	Het
Pih1h3b	T	A	X: 140,106,021	N216K	possibly damaging	Het
Plcz1	C	T	6: 140,002,081	R525Q	probably damaging	Het
Ppef2	T	G	5: 92,228,722	S649R	probably damaging	Het
Rusc2	T	G	4: 43,415,935	S414A	probably damaging	Het
Sez6l	A	G	5: 112,475,361	L108P	possibly damaging	Het
Slc1a7	A	G	4: 108,010,994	E497G	probably benign	Het
Spag8	T	A	4: 43,651,606	S423C	probably damaging	Het
Sspo	C	T	6: 48,480,697	R3178C	probably damaging	Het
St6galnac1	A	G	11: 116,765,856	W486R	probably damaging	Het
Syk	A	G	13: 52,631,739	D327G	probably benign	Het
Tbc1d8b	C	T	X: 139,713,391	A391V	probably benign	Het
Tmed9	A	G	13: 55,595,574	E173G	probably benign	Het
Top1mt	T	C	15: 75,657,176	N573S	probably benign	Het
Tusc1	C	A	4: 93,334,936	R162L	probably damaging	Het
Ubn2	A	G	6: 38,498,739	T1211A	probably benign	Het
Unc80	G	A	1: 66,639,305	V2082I	probably benign	Het
Vmn2r63	A	G	7: 42,926,982	F469S	probably benign	Het
Zfp92	C	T	X: 73,420,294		probably benign	Het
Zfyve28	C	T	5: 34,199,684	M723I	probably benign	Het
Zmynd8	A	T	2: 165,815,451	M533K	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
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
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'- GCACAGCAGGGCCATAATAG -3'
(R):5'- TATCCACCTTGGGGTCCATC -3'

Sequencing Primer
(F):5'- GCAGGGCCATAATAGTCCTGAC -3'
(R):5'- GCCATCATTTGCACCCCGG -3'

Posted On

2015-02-18