Mutagenetix > Incidental Mutations

Incidental Mutation 'R6647:Ddx31'

526105

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.791) question?

Stock #

R6647 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28875738 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 483 (T483S)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: T483S

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: T483S

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

Meta Mutation Damage Score

0.7370

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,578	N1174Y	probably damaging	Het
Agl	T	C	3: 116,750,411	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,028,478	S103P	probably damaging	Het
Ces1h	A	C	8: 93,352,026	*563G	probably null	Het
Cfap157	G	T	2: 32,779,074	A339E	probably benign	Het
Crebbp	C	T	16: 4,119,806	A698T	possibly damaging	Het
Cyp2b13	A	G	7: 26,085,899	H231R	possibly damaging	Het
Defa25	A	T	8: 21,085,185	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,487	A3453T	probably benign	Het
Dnah6	A	T	6: 73,138,760	F1500I	probably damaging	Het
Eprs	C	T	1: 185,414,424	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,626,935	Y481C	probably benign	Het
Fam159a	A	G	4: 108,368,027	S113P	probably benign	Het
Fmn2	T	A	1: 174,593,104	N635K	unknown	Het
Fras1	A	G	5: 96,735,202	D2531G	probably damaging	Het
Frat1	C	T	19: 41,830,825	Q220*	probably null	Het
Gcc2	T	A	10: 58,287,281		probably null	Het
Gm3285	T	C	10: 77,862,613		probably benign	Het
Gm9857	T	C	3: 108,940,063		probably benign	Het
Grin2b	C	A	6: 135,733,110	W1146L	probably damaging	Het
Hells	T	A	19: 38,931,504	L33I	probably benign	Het
Ift81	T	A	5: 122,610,166	R54*	probably null	Het
Ints12	G	A	3: 133,096,878	R41Q	possibly damaging	Het
Katnal2	C	T	18: 76,980,037	E403K	probably benign	Het
Kcnk1	A	G	8: 125,995,460	M1V	probably null	Het
Kdm5a	A	G	6: 120,412,461	T950A	probably benign	Het
Kdr	G	A	5: 75,952,889	A773V	probably damaging	Het
Lats1	G	C	10: 7,697,507	M118I	possibly damaging	Het
Mug1	A	G	6: 121,840,241	I90V	probably benign	Het
Nid2	A	G	14: 19,802,416	D1064G	probably benign	Het
Nkx2-4	A	T	2: 147,084,267	I225N	possibly damaging	Het
Nlrp4e	A	G	7: 23,321,315	D409G	probably benign	Het
Ogfod2	G	C	5: 124,114,803	R292P	possibly damaging	Het
Olfr1163	A	T	2: 88,070,709	F224L	probably benign	Het
Olfr781	T	A	10: 129,333,164	C94*	probably null	Het
Olfr845	T	A	9: 19,338,629	H56Q	possibly damaging	Het
Olfr935	T	C	9: 38,994,914	I174V	possibly damaging	Het
Oprk1	C	T	1: 5,602,284	P215S	probably damaging	Het
Pcdhb16	A	G	18: 37,479,172	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714	P171T	probably damaging	Het
Pycard	T	C	7: 127,993,569	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,407,928	A452V	probably benign	Het
Rasgrf1	C	G	9: 90,010,463	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,382,944	R707*	probably null	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Senp7	T	C	16: 56,173,255	I767T	probably damaging	Het
Setd7	A	G	3: 51,542,762	V81A	probably benign	Het
Shkbp1	A	G	7: 27,342,375	S685P	probably benign	Het
Snrnp200	A	G	2: 127,226,452	E904G	probably damaging	Het
Spata22	T	A	11: 73,354,700		probably null	Het
Tas2r138	G	T	6: 40,612,799	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 156,018,253	D77G	possibly damaging	Het
Vav3	A	T	3: 109,527,416	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,869,859	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,522,523	S386R	probably benign	Het
Xpa	T	A	4: 46,183,089	R233S	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTCAGTGAAGCCAACAGC -3'
(R):5'- AAGGGTTAATGGCTCTTCAGC -3'

Sequencing Primer
(F):5'- GCCAACAGCTTCAGGTTGATTAATG -3'
(R):5'- GCTCTTCAGCAGCTTACAAGG -3'

Posted On

2018-06-22