Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Ddx31'

209326

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

039905-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R1884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28858990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 266 (I266N)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: I266N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: I266N

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

0.7553

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 104,114,485	M573T	probably benign	Het
Ank3	A	G	10: 70,015,592	T1162A	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Arpp21	T	A	9: 112,143,527	D232V	probably damaging	Het
Atg2a	T	C	19: 6,254,384	Y1144H	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Brs3	T	C	X: 57,047,089	I311T	probably benign	Het
Cenpf	C	T	1: 189,646,849	V2915I	probably benign	Het
Cep170	G	T	1: 176,774,679	T287K	probably benign	Het
Chst2	G	A	9: 95,405,558	T245I	probably damaging	Het
Cnot4	C	T	6: 35,078,157	V66I	probably damaging	Het
Cntn4	A	G	6: 106,679,392	T885A	probably benign	Het
Col20a1	C	T	2: 180,992,910	T131I	possibly damaging	Het
Coro7	G	T	16: 4,628,819		probably benign	Het
Cpne8	C	A	15: 90,648,628		probably benign	Het
Dbnl	G	A	11: 5,799,247	G356E	probably benign	Het
Dnah7a	A	T	1: 53,541,000	I1592N	probably damaging	Het
Dok6	A	T	18: 89,474,006	L149Q	probably damaging	Het
Eri2	G	A	7: 119,791,123	T94I	probably benign	Het
Ermp1	A	G	19: 29,616,679	V697A	probably benign	Het
Foxc1	C	T	13: 31,807,665	T153M	probably damaging	Het
Fry	A	G	5: 150,403,520	I1224V	probably benign	Het
Fzd5	G	A	1: 64,735,654	T316M	probably damaging	Het
Gcm1	G	T	9: 78,059,579	V27L	probably benign	Het
Gm5773	A	T	3: 93,774,041	D340V	probably benign	Het
Gucy2d	T	A	7: 98,451,608	H379Q	probably benign	Het
Hectd1	T	A	12: 51,800,955	M392L	probably benign	Het
Itpr2	A	C	6: 146,385,971	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,614,679		probably benign	Het
Lrit1	T	C	14: 37,061,753	V346A	possibly damaging	Het
Lrrk1	A	G	7: 66,262,437	S1792P	probably benign	Het
Marveld2	A	T	13: 100,600,621	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,461,265	D149E	probably damaging	Het
Myom2	G	A	8: 15,114,278	D1058N	probably benign	Het
Ncam2	C	T	16: 81,437,683	P142L	probably damaging	Het
Nek9	A	G	12: 85,332,556	L192P	probably damaging	Het
Nol10	T	C	12: 17,368,389		probably null	Het
Nrcam	T	C	12: 44,544,755	V194A	probably damaging	Het
Nudt6	A	G	3: 37,412,400	V82A	probably benign	Het
Odf2l	A	T	3: 145,151,048	N492I	probably damaging	Het
Olfr446	T	C	6: 42,927,830	S200P	probably damaging	Het
Olfr583	T	C	7: 103,051,982	I228T	probably benign	Het
Pkn3	T	C	2: 30,082,828	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,247,903	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,937,330	F10L	probably damaging	Het
Rab3b	T	A	4: 108,929,452	V133E	probably damaging	Het
Rnf111	A	T	9: 70,476,238	S138T	probably damaging	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Runx1t1	A	G	4: 13,835,767	T75A	probably benign	Het
Ryr2	T	G	13: 11,738,356	K1693T	probably damaging	Het
Sdha	A	T	13: 74,333,136	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,765,778	D274V	possibly damaging	Het
Setd2	T	G	9: 110,556,418		probably null	Het
Sh3tc2	A	G	18: 62,008,575	Y1109C	probably damaging	Het
Sik3	C	G	9: 46,221,089	H1276Q	probably benign	Het
Slc22a2	A	G	17: 12,614,826		probably benign	Het
Slc35f4	A	T	14: 49,313,634	W108R	probably damaging	Het
Slc4a1ap	A	G	5: 31,534,180	E440G	probably damaging	Het
Slc6a4	A	G	11: 77,013,375	T219A	probably benign	Het
Stxbp5	C	A	10: 9,812,298	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,435,027	T165S	probably benign	Het
Tbck	T	C	3: 132,724,916		probably null	Het
Tnxb	T	A	17: 34,689,565	D1520E	probably benign	Het
Top1mt	C	T	15: 75,667,901	R287H	possibly damaging	Het
Trdn	A	G	10: 33,257,095	K314E	probably benign	Het
Troap	T	A	15: 99,077,898	C233S	probably benign	Het
Usp28	T	C	9: 49,035,947	M571T	probably damaging	Het
Vac14	A	G	8: 110,711,687	H644R	probably damaging	Het
Vipr1	C	T	9: 121,665,864	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,472,044	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,580,751	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,575,725	Q425K	probably benign	Het
Vmn2r60	T	C	7: 42,136,670	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,291		probably benign	Het
Zfp157	A	G	5: 138,444,840	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,630,706	V176G	probably benign	Het
Zfp831	A	G	2: 174,704,077	H1325R	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
R1674:Ddx31	UTSW	2	28858816	missense	probably damaging	1.00
R1834:Ddx31	UTSW	2	28892453	missense	probably damaging	1.00
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'- TTTAAACAGACTCCGAAAAGGC -3'
(R):5'- CAGTGGGGAAAAGCTGTTCC -3'

Sequencing Primer
(F):5'- GCCGTCTAGTGGATCATATAAAATCC -3'
(R):5'- GAAAAGCTGTTCCTTCTCCCTAAGAG -3'

Posted On

2014-06-30