Mutagenetix > Incidental Mutation

Incidental Mutation 'R1674:Ddx31'

187872

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

039710-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R1674 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28858816 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 252 (F252S)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: F252S

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: F252S

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

Meta Mutation Damage Score

0.9275

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	A	G	3: 79,631,144	T66A	probably benign	Het
5430401F13Rik	A	T	6: 131,552,803	Q120L	unknown	Het
Akirin1	A	G	4: 123,743,463	S110P	possibly damaging	Het
Ankmy2	T	A	12: 36,187,669	S256T	probably benign	Het
Areg	T	C	5: 91,143,626	F143L	probably damaging	Het
Arhgap42	A	G	9: 9,006,584	S604P	probably damaging	Het
Arid1a	A	G	4: 133,689,260	V1068A	unknown	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atoh1	T	G	6: 64,729,930	I203S	possibly damaging	Het
Atp5l	T	C	9: 44,914,659	T69A	possibly damaging	Het
Baz1b	A	G	5: 135,205,111	E164G	probably damaging	Het
Baz2b	A	T	2: 59,912,992	V1545E	possibly damaging	Het
Best1	A	G	19: 9,993,226		probably null	Het
Casp8	T	A	1: 58,844,416	I314N	probably damaging	Het
Ccdc13	T	C	9: 121,809,142	T26A	probably damaging	Het
Ccr6	A	T	17: 8,256,217	I85L	probably damaging	Het
Cdh10	A	T	15: 18,985,066	N272I	probably benign	Het
Cdh10	T	A	15: 19,013,330	I672K	probably damaging	Het
Cdk17	A	T	10: 93,221,630	E163V	probably benign	Het
Chsy1	T	C	7: 66,171,663	F549L	probably damaging	Het
CN725425	T	C	15: 91,246,921	Y420H	possibly damaging	Het
Cpt1b	A	T	15: 89,422,332	M281K	possibly damaging	Het
Crlf2	A	G	5: 109,558,803		probably null	Het
Ctif	T	C	18: 75,637,180	T45A	probably benign	Het
Dennd2d	T	C	3: 106,492,517	I242T	probably benign	Het
Dennd5b	A	G	6: 148,998,284	F1205S	probably damaging	Het
Dopey1	T	C	9: 86,536,160	S1981P	probably damaging	Het
Dsg1b	A	T	18: 20,399,521	T541S	probably benign	Het
Dst	T	A	1: 34,223,795		probably null	Het
Dysf	T	C	6: 84,179,715	V1508A	probably benign	Het
Erf	A	T	7: 25,245,306	L200Q	possibly damaging	Het
Erich3	A	G	3: 154,762,623		probably benign	Het
Esrrb	C	T	12: 86,514,451	L320F	probably damaging	Het
Fap	T	A	2: 62,519,005	D508V	probably benign	Het
Fdft1	A	C	14: 63,164,585	N48K	probably benign	Het
Fdps	A	G	3: 89,100,730	V94A	probably benign	Het
Fes	A	T	7: 80,377,938	H819Q	probably benign	Het
Foxd1	G	T	13: 98,354,839	D74Y	unknown	Het
Gm136	A	T	4: 34,746,662		probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm5919	T	A	9: 83,883,285	L58*	probably null	Het
Gm6871	C	T	7: 41,573,635	V10I	possibly damaging	Het
Isy1	T	C	6: 87,834,487	R29G	probably damaging	Het
Kif16b	T	A	2: 142,712,953	K653*	probably null	Het
Kif17	A	G	4: 138,301,258	T706A	probably benign	Het
Kif18b	G	T	11: 102,913,060	P425T	probably benign	Het
Lama1	T	A	17: 67,791,244	V1812E	probably benign	Het
Lama5	A	G	2: 180,201,987	V430A	probably benign	Het
Lclat1	A	G	17: 73,239,781	E231G	probably damaging	Het
Lig4	T	C	8: 9,971,692	D696G	probably benign	Het
Mylpf	T	A	7: 127,214,137	V151E	probably damaging	Het
Naa16	A	T	14: 79,387,057	M1K	probably null	Het
Ndufaf6	T	C	4: 11,070,264	K119R	probably benign	Het
Nt5c1b	T	C	12: 10,370,055		probably benign	Het
Olfr1080	T	A	2: 86,553,860	D88V	probably damaging	Het
Olfr1102	T	C	2: 87,002,233	V88A	probably benign	Het
Olfr1197	A	G	2: 88,729,257	V114A	probably damaging	Het
Olfr1504	T	A	19: 13,887,590	I207L	probably benign	Het
Olfr307	G	A	7: 86,335,557	P280S	probably damaging	Het
Otud4	A	G	8: 79,673,147	N830S	probably benign	Het
Pdcd10	A	C	3: 75,541,179	M26R	probably damaging	Het
Pitpnc1	A	G	11: 107,226,245	V223A	possibly damaging	Het
Pkp2	A	G	16: 16,240,558	D368G	possibly damaging	Het
Pla1a	A	T	16: 38,414,810	M174K	probably benign	Het
Polr2b	A	G	5: 77,326,623	K436E	possibly damaging	Het
Rdh16	A	G	10: 127,801,357	M54V	probably benign	Het
Sall2	C	A	14: 52,313,836	C632F	probably damaging	Het
Sart1	T	A	19: 5,385,825	I120F	probably damaging	Het
Slco1a1	A	T	6: 141,935,935	M157K	probably damaging	Het
Snapc4	T	C	2: 26,376,197	T178A	probably benign	Het
Sox6	T	C	7: 115,801,419	I63V	probably benign	Het
Spin1	T	A	13: 51,149,099	Y243N	probably damaging	Het
Stmnd1	T	C	13: 46,299,621	Y258H	possibly damaging	Het
Tex13b	A	T	X: 140,810,070	N184K	probably benign	Het
Tgm5	T	C	2: 121,071,544	T215A	possibly damaging	Het
Tnks2	A	G	19: 36,871,622	T165A	probably benign	Het
Top2a	A	T	11: 99,009,273	F667Y	probably damaging	Het
Tpo	T	C	12: 30,100,568	M438V	probably benign	Het
Tyw1	A	G	5: 130,269,328	R237G	probably benign	Het
Unc5c	G	A	3: 141,757,837	V240I	possibly damaging	Het
Unc80	A	C	1: 66,509,308	T580P	probably damaging	Het
Upp2	G	A	2: 58,790,064	E301K	probably benign	Het
Utp18	A	G	11: 93,876,053		probably null	Het
Vmn1r23	T	C	6: 57,926,061	D244G	possibly damaging	Het
Vps13c	T	A	9: 67,853,703	L51*	probably null	Het
Xpnpep3	A	G	15: 81,430,767	T223A	probably benign	Het
Zfp28	T	A	7: 6,394,943	H792Q	possibly damaging	Het
Zfp804a	A	G	2: 82,258,824	K999R	probably benign	Het
Zkscan16	G	A	4: 58,948,918	V158M	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
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
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'- gccaaggctacacaaaaaaaac -3'
(R):5'- AGGAAATCTGATACTACCAGGC -3'

Posted On

2014-05-09