Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02938:Ddx31'

364407

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ddx31

Ensembl Gene

ENSMUSG00000026806

Gene Name

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.805) question?

Stock #

IGL02938

Quality Score

Status

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28859023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 277 (V277E)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113853
AA Change: V277E

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: V277E

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

Coding Region Coverage

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	T	C	16: 20,362,229	T1152A	possibly damaging	Het
Adgra3	T	C	5: 49,961,317	D963G	probably benign	Het
Adrm1	T	A	2: 180,175,602	D287E	probably damaging	Het
Agxt	A	G	1: 93,145,109	D396G	probably damaging	Het
Ankle1	C	T	8: 71,406,252	A43V	probably damaging	Het
Apc	A	G	18: 34,315,228	I1692V	probably damaging	Het
Arhgef18	T	C	8: 3,450,802	V588A	probably benign	Het
Ccdc62	T	A	5: 123,934,184	V4E	probably benign	Het
Cdh16	A	T	8: 104,616,929		probably benign	Het
Cr2	A	T	1: 195,166,388	C276S	probably damaging	Het
Cyp2c29	T	A	19: 39,287,123	D2E	probably damaging	Het
Defa35	C	T	8: 21,065,914		probably benign	Het
Dhx9	A	T	1: 153,464,630	D707E	probably benign	Het
Dnmt1	A	G	9: 20,941,373	S28P	probably benign	Het
Dock5	A	T	14: 67,757,218		probably benign	Het
Dpp6	T	C	5: 27,723,367		probably benign	Het
Egln1	A	G	8: 124,914,015		probably null	Het
Esr1	T	A	10: 4,783,872	M224K	probably damaging	Het
Flt1	A	G	5: 147,678,299	I279T	possibly damaging	Het
Fzd6	T	C	15: 39,033,890	I478T	probably benign	Het
Glb1l3	A	G	9: 26,826,759	V368A	probably benign	Het
Gltpd2	T	C	11: 70,519,811	F5S	probably damaging	Het
Helz	G	A	11: 107,686,438	E1872K	unknown	Het
Irak3	A	G	10: 120,182,524		probably null	Het
Itsn2	A	T	12: 4,697,216	I1206F	probably damaging	Het
Lingo3	A	T	10: 80,835,154	V314E	probably benign	Het
Lrrc8a	C	T	2: 30,255,686	R171W	probably damaging	Het
Lsg1	T	C	16: 30,571,206	T364A	probably benign	Het
Mks1	T	C	11: 87,862,652		probably null	Het
Mov10l1	T	A	15: 88,988,526	F89Y	probably damaging	Het
Myo1b	A	C	1: 51,801,178		probably null	Het
Myo1h	T	C	5: 114,358,939	Y819H	probably damaging	Het
Nedd1	G	A	10: 92,689,657	Q597*	probably null	Het
Nrn1	C	A	13: 36,730,106		probably null	Het
Olfr1431	A	G	19: 12,209,682	T39A	probably benign	Het
Pbrm1	T	C	14: 31,067,804	S792P	probably damaging	Het
Pccb	T	C	9: 100,984,396	N457S	probably benign	Het
Plekho2	T	C	9: 65,558,620	E162G	possibly damaging	Het
Pou1f1	A	T	16: 65,523,544	T40S	probably benign	Het
Pwwp2b	T	C	7: 139,256,143	V500A	probably damaging	Het
Pygo1	C	T	9: 72,944,738	A69V	probably damaging	Het
Slc18a3	A	C	14: 32,463,815	Y204D	probably damaging	Het
Stab2	A	G	10: 86,871,921	V261A	possibly damaging	Het
Tacc2	A	T	7: 130,728,941	K208N	probably damaging	Het
Tbc1d4	T	C	14: 101,501,100	D403G	probably damaging	Het
Tbc1d9	T	A	8: 83,269,067		probably benign	Het
Tdrkh	T	C	3: 94,429,350		probably benign	Het
Tktl2	T	A	8: 66,512,330	L180H	probably damaging	Het
Tm4sf19	T	A	16: 32,405,915	L27Q	probably damaging	Het
Tmtc2	A	G	10: 105,413,296	V192A	probably damaging	Het
Ttn	C	A	2: 76,712,984	M33219I	probably damaging	Het
Vmn1r52	A	T	6: 90,179,313	M200L	possibly damaging	Het
Vmn2r114	T	A	17: 23,291,289	H739L	probably benign	Het
Wdr20rt	T	C	12: 65,225,918	F52L	probably benign	Het
Zbtb38	C	T	9: 96,687,174	G619D	probably benign	Het
Zfyve19	T	C	2: 119,211,518	V156A	probably benign	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
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
R9326:Ddx31	UTSW	2	28858996	missense	probably damaging	1.00
R9571:Ddx31	UTSW	2	28860022	missense	probably damaging	0.99

Posted On

2015-12-18