Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01664:Ddx31'

103271

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx31

Ensembl Gene

ENSMUSG00000026806

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.744) question?

Stock #

IGL01664

Quality Score

Status

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 28875835 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113853

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806

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

Coding Region Coverage

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Col19a1	T	A	1: 24,561,335	Y42F	unknown	Het
Fbln2	G	A	6: 91,233,457	D128N	probably damaging	Het
Fgf7	G	T	2: 126,035,987	M91I	probably benign	Het
Gm28539	A	G	16: 18,836,773	H31R	possibly damaging	Het
Hivep1	T	G	13: 42,159,279	V1665G	probably benign	Het
Ifih1	T	C	2: 62,611,700		probably benign	Het
Il10	G	T	1: 131,021,477	R125L	possibly damaging	Het
Kalrn	C	T	16: 34,294,161	R574H	probably damaging	Het
Lmln	A	G	16: 33,080,987	E251G	probably benign	Het
Olfr1507	T	C	14: 52,490,545	N57D	probably benign	Het
Olfr668	T	C	7: 104,925,104	Y220C	probably damaging	Het
Olfr681	T	A	7: 105,122,216	L253Q	probably damaging	Het
Otol1	A	G	3: 70,027,797	D374G	probably benign	Het
Pcdhb15	T	C	18: 37,474,261	V182A	probably benign	Het
Polr3e	T	C	7: 120,931,317		probably benign	Het
Sectm1a	A	T	11: 121,069,044	S149T	possibly damaging	Het
Slfn10-ps	A	G	11: 83,035,935		noncoding transcript	Het
Sox1ot	A	G	8: 12,430,670		noncoding transcript	Het
Tnik	G	T	3: 28,638,479	G895C	probably damaging	Het

Other mutations in Ddx31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-01-21