Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Ddx31'

424143

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

042937-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.805) question?

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28863770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 448 (C448S)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: C448S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: C448S

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: ENSMUST00000152685

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,013,331	V1842A	probably damaging	Het
Abi3	A	T	11: 95,842,108	F13L	probably benign	Het
Adgre4	A	G	17: 55,818,758	K538R	probably benign	Het
Bcas3	C	T	11: 85,451,755	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,667,564	T376A	probably benign	Het
Ceacam18	C	A	7: 43,637,073	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,832,025	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,841,282		probably benign	Het
Chmp7	A	G	14: 69,721,235	V210A	probably benign	Het
Chrm2	A	G	6: 36,523,355	K49R	probably damaging	Het
Daam1	T	A	12: 71,952,459	L623*	probably null	Het
Dnah7a	A	G	1: 53,547,172	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,746,954	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,129,695	R247H	probably damaging	Het
Exoc4	A	G	6: 33,265,999	E49G	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fam96b	T	C	8: 104,641,650	N14S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxj3	A	G	4: 119,619,399	E258G	probably damaging	Het
Gata4	C	T	14: 63,240,626	A175T	probably benign	Het
Helz2	C	T	2: 181,235,528	E1106K	probably damaging	Het
Hip1	G	T	5: 135,436,398	S385R	probably benign	Het
Igsf9	C	T	1: 172,484,511	T8I	probably benign	Het
Katnal2	A	G	18: 77,017,494	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 106,027,591	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,607,694	R570*	probably null	Het
Kif16b	T	A	2: 142,740,969	R545S	probably damaging	Het
Kif21b	T	A	1: 136,172,292	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,819,274		probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Mknk2	T	C	10: 80,671,763	T60A	probably benign	Het
Ncoa6	T	C	2: 155,406,987	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,654,082	T109P	probably damaging	Het
Nup214	C	A	2: 32,017,146	S995Y	unknown	Het
Olfr448	A	T	6: 42,896,520	Q23L	probably benign	Het
Pclo	T	A	5: 14,712,736	L456*	probably null	Het
Pde5a	A	G	3: 122,748,176	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,323,544	P709H	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rab3c	T	C	13: 110,061,963	N179S	possibly damaging	Het
Setdb2	T	A	14: 59,409,436	R559S	probably benign	Het
Sf3b1	A	G	1: 55,003,310	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,735,174	W228L	probably benign	Het
Slc8a2	T	G	7: 16,157,303	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,660,044	I194L	unknown	Het
Smarcd1	C	T	15: 99,703,247	Q45*	probably null	Het
Srcap	T	G	7: 127,540,320	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330	N9Y	probably damaging	Het
St7	T	C	6: 17,819,318	S74P	probably damaging	Het
Stxbp5l	T	A	16: 37,174,326	E739V	probably damaging	Het
Sun3	T	A	11: 9,031,496	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,170,937	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,078,020	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,074,289	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,499,518	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,251,015		probably benign	Het
Trpm3	A	T	19: 22,925,968	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,401,331	K381E	probably benign	Het
Uaca	T	C	9: 60,871,148	V937A	probably benign	Het
Umod	C	T	7: 119,472,354	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,704,150		probably null	Het
Zfp644	G	A	5: 106,635,675	T1002I	probably damaging	Het
Zfp651	T	A	9: 121,765,595	F540Y	probably damaging	Het
Zfp738	A	G	13: 67,671,012	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,508,263	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,567,703		probably null	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
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'- TGTGTTTAAACCTGCCTTGCTAG -3'
(R):5'- AAGTGTGCCAACTACCCAG -3'

Sequencing Primer
(F):5'- AAACCTGCCTTGCTAGCATTTATC -3'
(R):5'- AGAAGTCACAGCTACCTCTGGG -3'

Posted On

2016-08-04