Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:Ddx31'

706494

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

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28858996 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 268 (D268G)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: D268G

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: D268G

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

0.9273

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	C	T	3: 108,544,615	R159W	probably damaging	Het
2310057J18Rik	A	T	10: 28,973,886	Y230*	probably null	Het
Adamts14	A	G	10: 61,200,459	S1015P	probably benign	Het
Adamts8	A	G	9: 30,943,590	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,232,567	S149T	possibly damaging	Het
Afp	A	G	5: 90,504,346	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,573,273	S222C	probably damaging	Het
C330027C09Rik	G	A	16: 49,013,872		probably null	Het
Ccdc88c	C	A	12: 101,028,850		probably benign	Het
Cluh	A	G	11: 74,664,076	K780R	probably benign	Het
Cope	C	A	8: 70,302,866	F20L	possibly damaging	Het
Cps1	G	T	1: 67,209,636	R1174L	probably damaging	Het
Csmd1	G	A	8: 15,999,803	T2271I	probably benign	Het
Ctbp2	A	G	7: 133,014,630	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,522,675	T106A	probably benign	Het
Ddb2	A	T	2: 91,217,214	M240K	probably benign	Het
Ddx20	A	T	3: 105,684,419	V145D	probably damaging	Het
Drc7	A	G	8: 95,075,258	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,828,208	Y424*	probably null	Het
Exog	A	G	9: 119,462,488	N277S	probably damaging	Het
Fzd7	T	C	1: 59,483,678	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,179,188	T299A	probably damaging	Het
Hecw2	A	G	1: 54,040,210	Y95H	probably damaging	Het
Idh1	T	C	1: 65,166,257	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,176,849	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,676,891	I83F	probably damaging	Het
Jag1	A	G	2: 137,089,825	S609P	probably benign	Het
Klhl33	T	C	14: 50,897,158	E9G	possibly damaging	Het
Lama2	A	G	10: 27,030,197	F2421L	probably benign	Het
Lmod2	A	T	6: 24,598,000	I40F	probably damaging	Het
Lsm5	A	T	6: 56,704,631	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,135,620	C258F	probably damaging	Het
Mgst1	T	C	6: 138,143,025	S28P	probably benign	Het
Msh3	A	T	13: 92,263,799	V744E	probably benign	Het
Mtx2	C	T	2: 74,825,943		probably benign	Het
N4bp3	C	T	11: 51,644,486	R292H	probably benign	Het
Neto2	A	T	8: 85,642,434	W354R	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup98	C	A	7: 102,138,830	R1011L	probably benign	Het
Nutm1	A	T	2: 112,248,347	S1074R	possibly damaging	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr1110	T	C	2: 87,136,303	H6R	probably benign	Het
Olfr1118	T	A	2: 87,309,386	M219K	probably benign	Het
Olfr281	T	C	15: 98,457,054	V248A	probably damaging	Het
Olfr847	A	T	9: 19,375,050	M277K	probably damaging	Het
Pi4kb	T	A	3: 94,993,195		probably null	Het
Rgsl1	C	T	1: 153,804,022	D103N	probably benign	Het
Rrbp1	G	A	2: 143,964,824	T958M	probably damaging	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Setd2	T	C	9: 110,549,603	C829R	probably benign	Het
Snd1	A	T	6: 28,795,843	R562*	probably null	Het
Snx27	A	T	3: 94,502,062	Y526N	probably damaging	Het
Stab2	A	G	10: 86,955,146	L483P	probably damaging	Het
Sybu	A	G	15: 44,673,623	S436P	probably damaging	Het
Thy1	A	G	9: 44,046,686	D37G	probably damaging	Het
Tmed8	A	T	12: 87,174,621	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,292,483	L340*	probably null	Het
Tpr	C	T	1: 150,425,656	A1331V	possibly damaging	Het
Tprg	G	A	16: 25,317,357	E33K	probably benign	Het
Vps26b	T	C	9: 27,019,331	N123D	probably damaging	Het
Wdr7	G	A	18: 63,739,189	S398N	probably benign	Het
Zbtb48	T	C	4: 152,027,052	D2G	probably damaging	Het
Zfp975	G	A	7: 42,662,413	R259*	probably null	Het
Zfp986	T	A	4: 145,899,881	H370Q	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
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
R9571:Ddx31	UTSW	2	28860022	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAACCTTCACTTTAACCGAATACG -3'
(R):5'- GCTGTAGGCCTTTCATGCATC -3'

Sequencing Primer
(F):5'- CGAATACGGTGGCTGATTGTG -3'
(R):5'- ATCCTAGTGTGTGTGCCAGACTAC -3'

Posted On

2022-04-18