Mutagenetix > Incidental Mutation

Incidental Mutation 'R0701:Ddx31'

62994

Institutional Source

Beutler Lab

Gene Symbol

Ddx31

Ensembl Gene

ENSMUSG00000026806

Gene Name

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31

Synonyms

MMRRC Submission

038884-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R0701 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 28858777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 239 (R239L)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113853]

AlphaFold

Q6NZQ2

Predicted Effect

probably null
Transcript: ENSMUST00000113853
AA Change: R239L

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: R239L

Domain	Start	End	E-Value	Type
DEXDc	123	332	2.28e-48	SMART
HELICc	408	487	4.02e-26	SMART
DUF4217	556	621	6.21e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152685

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They 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. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	G	2: 163,730,075	V261A	probably benign	Het
Arhgef10	T	A	8: 14,962,636	V320E	probably damaging	Het
Arhgef11	G	T	3: 87,733,459	A1308S	probably benign	Het
Bach1	G	A	16: 87,719,989	E473K	probably damaging	Het
Bsph1	G	T	7: 13,472,256	C72F	probably damaging	Het
C2cd2l	A	G	9: 44,316,202	L186P	probably damaging	Het
C9	A	C	15: 6,467,421	T200P	probably damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,746,173		probably null	Het
Chd1	C	A	17: 15,725,431	N72K	probably benign	Het
Copg1	T	A	6: 87,894,107	Y268*	probably null	Het
Csad	A	G	15: 102,179,136	S331P	probably benign	Het
Fat1	G	T	8: 45,026,553	A2879S	probably benign	Het
Fig4	T	A	10: 41,240,512	R628*	probably null	Het
Fmnl3	T	C	15: 99,321,307	N778S	probably damaging	Het
Gm10912	T	C	2: 104,066,530	S5P	probably benign	Het
Gm13088	C	T	4: 143,656,440	E70K	possibly damaging	Het
Haus3	G	A	5: 34,166,015	T417M	probably benign	Het
Herc1	T	G	9: 66,487,950	V4189G	probably damaging	Het
Hoxb3	C	A	11: 96,346,248	S384*	probably null	Het
Ifnar2	A	G	16: 91,404,229	T453A	possibly damaging	Het
Ift140	A	G	17: 25,090,933	T1105A	probably benign	Het
Kmt2e	T	C	5: 23,473,583	V220A	probably benign	Het
Lrriq1	A	T	10: 103,234,044	V37E	probably benign	Het
Lrrn4	G	A	2: 132,870,160	T581M	probably benign	Het
Mcur1	T	C	13: 43,545,740	Y267C	probably damaging	Het
Mdn1	T	A	4: 32,699,263	D1313E	probably benign	Het
Med13	T	A	11: 86,307,038	T736S	probably benign	Het
Mlh3	A	T	12: 85,267,903	I503K	probably benign	Het
Nckap5	A	G	1: 126,025,357	F1089L	probably benign	Het
Olfr1258	A	G	2: 89,930,201	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791	V69I	probably benign	Het
Olfr395	A	T	11: 73,906,829	I221N	probably damaging	Het
Pdgfd	A	T	9: 6,359,706	D259V	probably damaging	Het
R3hdm1	A	G	1: 128,181,739	Y309C	probably damaging	Het
Rab27b	A	T	18: 69,985,199	C216S	probably damaging	Het
Robo2	A	G	16: 74,046,874	I151T	probably damaging	Het
Sh2d4a	A	G	8: 68,331,095	D227G	probably damaging	Het
Sis	G	T	3: 72,941,045	T632K	probably damaging	Het
Smcr8	T	C	11: 60,778,115	Y30H	probably damaging	Het
Stap1	T	C	5: 86,094,808		probably null	Het
Syt16	G	A	12: 74,235,112	V337I	probably benign	Het
Taf1c	A	T	8: 119,599,983	I438N	probably damaging	Het
Ttn	A	G	2: 76,898,068		probably benign	Het
Unc45b	T	A	11: 82,940,205	L797Q	possibly damaging	Het
Usp6nl	A	G	2: 6,415,018	E144G	possibly damaging	Het
Wiz	A	T	17: 32,356,441	I907N	probably damaging	Het
Zap70	G	A	1: 36,781,177	R513Q	probably damaging	Het

Other mutations in Ddx31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01664:Ddx31	APN	2	28875835	splice site	probably benign
IGL01918:Ddx31	APN	2	28874164	missense	probably damaging	1.00
IGL02174:Ddx31	APN	2	28859029	missense	probably damaging	1.00
IGL02560:Ddx31	APN	2	28875826	missense	probably damaging	1.00
IGL02938:Ddx31	APN	2	28859023	missense	possibly damaging	0.49
R0241:Ddx31	UTSW	2	28848291	missense	probably damaging	1.00
R0241:Ddx31	UTSW	2	28848291	missense	probably damaging	1.00
R0440:Ddx31	UTSW	2	28857132	missense	probably damaging	1.00
R0729:Ddx31	UTSW	2	28874174	missense	probably damaging	1.00
R1227:Ddx31	UTSW	2	28857175	missense	probably damaging	1.00
R1532:Ddx31	UTSW	2	28881159	missense	probably benign	0.00
R1608:Ddx31	UTSW	2	28859066	missense	probably damaging	0.97
R1646:Ddx31	UTSW	2	28892520	missense	probably benign
R1674:Ddx31	UTSW	2	28858816	missense	probably damaging	1.00
R1834:Ddx31	UTSW	2	28892453	missense	probably damaging	1.00
R1884:Ddx31	UTSW	2	28858990	missense	probably damaging	0.97
R4133:Ddx31	UTSW	2	28858852	missense	probably damaging	1.00
R4911:Ddx31	UTSW	2	28904684	missense	probably benign	0.00
R4972:Ddx31	UTSW	2	28860770	missense	probably damaging	1.00
R5240:Ddx31	UTSW	2	28846030	missense	probably benign	0.03
R5358:Ddx31	UTSW	2	28863770	missense	probably damaging	0.98
R5450:Ddx31	UTSW	2	28886969	missense	probably damaging	0.97
R5945:Ddx31	UTSW	2	28859890	missense	probably damaging	1.00
R5956:Ddx31	UTSW	2	28874173	missense	probably damaging	1.00
R6235:Ddx31	UTSW	2	28844842	missense	probably benign	0.00
R6245:Ddx31	UTSW	2	28844982	missense	probably benign	0.00
R6463:Ddx31	UTSW	2	28847513	critical splice donor site	probably null
R6647:Ddx31	UTSW	2	28875738	missense	probably damaging	1.00
R6783:Ddx31	UTSW	2	28874176	missense	probably benign	0.26
R6917:Ddx31	UTSW	2	28892409	missense	probably damaging	1.00
R7135:Ddx31	UTSW	2	28848306	missense	probably benign
R7819:Ddx31	UTSW	2	28892451	missense	probably damaging	1.00
R8812:Ddx31	UTSW	2	28840804	unclassified	probably benign
R9122:Ddx31	UTSW	2	28858741	missense	probably damaging	1.00
R9326:Ddx31	UTSW	2	28858996	missense	probably damaging	1.00
R9571:Ddx31	UTSW	2	28860022	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGAGGGGCTCATGTGGCATATAC -3'
(R):5'- TGCCCGGTGCAAAGAGGAAATC -3'

Sequencing Primer
(F):5'- cagaaggcagaggcagatag -3'
(R):5'- AGGAAATCTGATACTACCAGGC -3'

Posted On

2013-07-30