Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Ddx31'

460516

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

044137-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R5945 (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 28859890 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 308 (I308N)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: I308N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: I308N

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

0.3956

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,106,339		noncoding transcript	Het
Abca13	C	T	11: 9,293,398	H1754Y	probably benign	Het
Abi1	T	C	2: 23,039,965	E34G	probably damaging	Het
Apobec3	C	T	15: 79,897,846	T19I	probably damaging	Het
Arel1	C	A	12: 84,926,347	V559L	probably benign	Het
Arhgef10	T	C	8: 14,980,028		probably null	Het
Asb6	T	C	2: 30,828,203		probably benign	Het
Asxl2	T	C	12: 3,500,439	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,237,243	R1100L	probably benign	Het
Atp6v1a	A	G	16: 44,099,946	V429A	probably damaging	Het
Caml	A	G	13: 55,628,632	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,723,588	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,485,850	E400G	probably damaging	Het
Ces1h	T	A	8: 93,363,626	E266V	probably benign	Het
Chd5	G	T	4: 152,379,951	Q1522H	probably benign	Het
CN725425	T	A	15: 91,245,777	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579	E62V	probably null	Het
Cops5	T	A	1: 10,038,010		probably benign	Het
Crhr2	T	A	6: 55,100,682	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,786,316		probably benign	Het
Efcab14	T	A	4: 115,756,467	V204D	probably damaging	Het
Emsy	T	C	7: 98,619,383	T484A	probably damaging	Het
Ep400	A	T	5: 110,682,866	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,828,730	Q420L	possibly damaging	Het
Fat4	A	G	3: 38,983,206	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,114,199	T607K	probably damaging	Het
Glod4	T	C	11: 76,234,471	Y135C	probably damaging	Het
Gm10912	A	G	2: 104,066,616	I33M	possibly damaging	Het
Gm5592	T	C	7: 41,215,612		probably benign	Het
Gm6614	T	A	6: 141,994,282	N145I	probably damaging	Het
Gria4	A	G	9: 4,456,122	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,460,626	E220G	probably benign	Het
Itga1	T	G	13: 114,966,590	N1102H	probably benign	Het
Itpk1	A	G	12: 102,588,553	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,745,322	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,568,701		probably null	Het
Kif24	G	A	4: 41,428,670	Q97*	probably null	Het
Klhl2	T	C	8: 64,749,728	I479V	probably benign	Het
Large1	T	C	8: 72,852,200	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,655,497	L169R	probably damaging	Het
Loxl3	T	G	6: 83,037,511	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,584,463	Y4H	unknown	Het
March7	A	G	2: 60,240,987	K612E	probably damaging	Het
Mreg	C	T	1: 72,192,200	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,480,499		probably benign	Het
Nrbf2	G	A	10: 67,267,520	S268F	possibly damaging	Het
Olfr1157	A	T	2: 87,962,602	C97S	probably damaging	Het
Olfr196	A	G	16: 59,168,119	L8P	probably benign	Het
Olfr197	C	T	16: 59,185,728	V252I	unknown	Het
Olfr729	A	G	14: 50,148,763	V37A	probably benign	Het
Oog4	T	A	4: 143,437,723	I341F	probably benign	Het
Pcdhb5	G	A	18: 37,321,470	R301Q	probably benign	Het
Podn	T	C	4: 108,021,713	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,455,532		probably null	Het
Ppp2r1a	C	G	17: 20,959,413	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,514,887	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,573,419		probably benign	Het
Rgl2	A	G	17: 33,932,038		probably null	Het
Ryr2	A	T	13: 11,660,122	I3373N	probably damaging	Het
Scap	A	G	9: 110,384,596	N1209S	probably benign	Het
Sin3b	T	C	8: 72,731,165	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,996,028	I296N	probably damaging	Het
Slco2a1	T	C	9: 103,046,790	S68P	probably damaging	Het
Snx8	A	G	5: 140,353,480	C161R	probably benign	Het
Spryd3	C	T	15: 102,118,195	C347Y	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Strn3	T	C	12: 51,629,496	T333A	probably benign	Het
Swt1	T	A	1: 151,411,170	E190D	probably benign	Het
Tchh	A	T	3: 93,445,337	I695F	unknown	Het
Tfap4	G	A	16: 4,545,629	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,891,866	T412K	probably benign	Het
Tmem184b	T	A	15: 79,365,481		probably null	Het
Trpa1	T	C	1: 14,898,135	D469G	probably benign	Het
Tssk1	T	C	16: 17,894,701	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,619,745	M313K	probably damaging	Het
Tubgcp6	T	C	15: 89,109,217		probably null	Het
Vav1	A	G	17: 57,301,870	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,324,886	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,362,332	L892*	probably null	Het
Zfp46	T	A	4: 136,287,217	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,702,416	P99Q	probably benign	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp990	T	A	4: 145,538,043	I537N	probably 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
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
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'- GAGGTGCAGACAACCTGATG -3'
(R):5'- CCTTAGATGGGTCCAGATCTAAGC -3'

Sequencing Primer
(F):5'- TGCAGACAACCTGATGAGAAC -3'
(R):5'- CACTTTTGCAGGATGAAGGC -3'

Posted On

2017-02-28