Mutagenetix > Incidental Mutation

Incidental Mutation 'R0241:Ddx31'

59464

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

038479-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R0241 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28848291 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 155 (T155A)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: T155A

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: T155A

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: ENSMUST00000147779

Meta Mutation Damage Score

0.9621

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

99% (72/73)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	T	A	6: 39,583,818	V380E	probably benign	Het
Anapc1	A	T	2: 128,628,629	M1527K	possibly damaging	Het
Arfgef3	T	A	10: 18,599,214	I1575F	probably damaging	Het
Atp4a	G	T	7: 30,717,135	G446C	probably benign	Het
Bicra	A	T	7: 15,975,145	M1188K	probably damaging	Het
Brd7	G	A	8: 88,345,850	R331W	probably benign	Het
Cactin	A	G	10: 81,322,652	T151A	probably benign	Het
Cadps	G	A	14: 12,376,675	T1274M	probably damaging	Het
Catsper3	T	C	13: 55,804,854	M175T	probably damaging	Het
Chd5	A	G	4: 152,366,132	D605G	probably damaging	Het
Chst12	G	A	5: 140,524,299	R227H	possibly damaging	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Cobl	A	T	11: 12,254,524	V644E	probably benign	Het
Dnah3	T	C	7: 119,922,730	Q4069R	probably damaging	Het
Dnah8	T	C	17: 30,765,679	I3117T	probably damaging	Het
Doc2b	A	G	11: 75,772,561	V355A	probably damaging	Het
Dock10	A	T	1: 80,578,623	S578T	probably benign	Het
Duox1	T	C	2: 122,333,397		probably benign	Het
Epb41l5	T	C	1: 119,567,779		probably null	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fcer2a	A	G	8: 3,688,796		probably null	Het
Fmnl1	G	A	11: 103,182,170		probably null	Het
Fry	A	T	5: 150,260,346		probably benign	Het
Git2	T	C	5: 114,733,229	E208G	probably damaging	Het
Gm13757	A	T	2: 88,446,545	M131K	possibly damaging	Het
Hs6st3	T	C	14: 119,138,820	F136L	probably benign	Het
Hydin	G	A	8: 110,398,023	V555I	probably benign	Het
Kcns1	A	T	2: 164,168,380	I153N	probably damaging	Het
Kmt2b	A	G	7: 30,577,069	L1726S	probably damaging	Het
Loxl3	A	G	6: 83,050,133	D615G	probably damaging	Het
Negr1	T	A	3: 157,208,399		probably benign	Het
Nfasc	C	A	1: 132,636,993	A70S	probably benign	Het
Odf3l2	C	T	10: 79,644,730		probably null	Het
Olfr464	T	A	11: 87,914,034	N291Y	probably damaging	Het
Olfr658	A	G	7: 104,645,243	M41T	probably benign	Het
Olfr998	A	G	2: 85,590,810	K90R	probably benign	Het
Otud7a	T	C	7: 63,697,244		probably benign	Het
Pacs2	T	C	12: 113,069,270		probably benign	Het
Pde7b	A	G	10: 20,436,216	C239R	probably damaging	Het
Pdzd2	A	T	15: 12,367,941	L2654Q	probably damaging	Het
Pgap1	T	C	1: 54,535,951		probably null	Het
Proz	T	A	8: 13,065,356	M124K	probably benign	Het
Raet1d	A	G	10: 22,371,429	T135A	probably benign	Het
Rapgef1	A	G	2: 29,702,670	N558S	possibly damaging	Het
Rpl7	C	G	1: 16,103,222	G101A	possibly damaging	Het
Sec14l1	G	A	11: 117,147,098		probably benign	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Simc1	G	T	13: 54,550,525	L1319F	probably damaging	Het
Sspo	A	G	6: 48,461,495	E1499G	possibly damaging	Het
Tango6	C	T	8: 106,747,361		probably benign	Het
Tas2r118	T	C	6: 23,969,339	Y241C	probably damaging	Het
Tbck	A	G	3: 132,724,875	E344G	probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Thop1	T	A	10: 81,080,245		probably benign	Het
Tmbim7	A	T	5: 3,666,866	Y66F	probably benign	Het
Tmc8	C	T	11: 117,786,381		probably benign	Het
Tnfrsf19	A	G	14: 60,973,592	S216P	possibly damaging	Het
Trappc2l	A	G	8: 122,614,393		probably benign	Het
Trim67	A	G	8: 124,823,190	R520G	probably damaging	Het
Ubp1	T	A	9: 113,966,587		probably null	Het
Vil1	T	C	1: 74,426,694	L548P	probably damaging	Het
Wdr3	A	G	3: 100,145,657	V593A	probably damaging	Het
Wdr5	A	G	2: 27,533,013	Y243C	probably damaging	Het
Zan	T	C	5: 137,421,822	T2858A	unknown	Het
Zbtb37	A	T	1: 161,020,369	V356E	probably benign	Het
Zfp36	C	T	7: 28,378,334	V50I	probably damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	possibly 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
R0440:Ddx31	UTSW	2	28857132	missense	probably damaging	1.00
R0701:Ddx31	UTSW	2	28858777	missense	probably null	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'- GTGAAAGGCACCATAGCTCCCTTG -3'
(R):5'- TGACCTATATGCCCTACACACGGAC -3'

Sequencing Primer
(F):5'- CCCTTGTAGATAACCTAAGGAGCTG -3'
(R):5'- GACCGTGAAGAGTTTATTCTACTCC -3'

Posted On

2013-07-11