Mutagenetix > Incidental Mutation

Incidental Mutation 'R5956:Ddx31'

471161

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

044144-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R5956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28874173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 464 (I464F)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: I464F

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: I464F

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

0.9173

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

98% (63/64)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,157,119	I398K	possibly damaging	Het
A530099J19Rik	T	G	13: 19,729,130		noncoding transcript	Het
Acad9	A	G	3: 36,075,174		probably benign	Het
Acsm2	T	C	7: 119,554,481	S5P	unknown	Het
Akp3	T	C	1: 87,126,945	I334T	probably damaging	Het
Amy1	C	T	3: 113,563,662	R176H	probably benign	Het
Ank2	A	T	3: 126,942,688		probably benign	Het
Cav1	C	A	6: 17,307,919	N23K	probably damaging	Het
Cep126	A	G	9: 8,112,119	V151A	probably benign	Het
Cnot1	A	G	8: 95,754,978		probably null	Het
Crim1	T	A	17: 78,315,717	V448E	probably damaging	Het
Csmd3	T	C	15: 48,791,882	E8G	possibly damaging	Het
Ddx54	A	G	5: 120,626,367		probably benign	Het
Dhx16	A	G	17: 35,882,870	E319G	probably damaging	Het
Efl1	A	G	7: 82,651,899	D37G	probably damaging	Het
Epha5	T	C	5: 84,150,369	R444G	probably damaging	Het
Exoc2	C	A	13: 30,820,623	C859F	probably benign	Het
Gbx2	T	C	1: 89,933,186		probably benign	Het
Gm12258	G	A	11: 58,859,459	A9T	probably benign	Het
Gm1966	T	C	7: 106,601,470		noncoding transcript	Het
Grm4	A	G	17: 27,435,155	V607A	probably benign	Het
Ighv1-74	C	A	12: 115,802,835	W55L	probably damaging	Het
Irx4	C	A	13: 73,267,507	Y138*	probably null	Het
Itpr1	C	A	6: 108,506,027	T2352K	probably benign	Het
Kcnk3	T	G	5: 30,588,510	V65G	probably damaging	Het
Mctp2	T	C	7: 72,259,175	E130G	probably benign	Het
Mgat5	C	A	1: 127,382,939	R197S	probably benign	Het
Mpg	T	C	11: 32,227,951		probably null	Het
Muc5b	T	C	7: 141,864,173	C3619R	probably damaging	Het
Myo15b	G	A	11: 115,873,757	V1321I	probably benign	Het
Myo1b	T	C	1: 51,776,232	T658A	probably damaging	Het
Nomo1	T	C	7: 46,042,613	S154P	possibly damaging	Het
Nsd1	T	A	13: 55,263,404	F1423I	probably damaging	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1012	A	G	2: 85,753,839		probably benign	Het
Osbpl6	A	G	2: 76,549,512	R149G	probably damaging	Het
Papola	T	A	12: 105,811,041	W281R	probably damaging	Het
Pole	C	T	5: 110,337,287		probably benign	Het
Rptn	A	G	3: 93,398,027	N889S	possibly damaging	Het
Scn10a	A	G	9: 119,631,560	S1084P	probably damaging	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sertad2	G	A	11: 20,647,884	G27S	probably benign	Het
Siglece	T	C	7: 43,659,336	T198A	probably damaging	Het
Sptb	T	A	12: 76,604,168	M1678L	probably benign	Het
Taf8	A	T	17: 47,498,542	M98K	probably damaging	Het
Tead2	T	A	7: 45,220,714		probably benign	Het
Tmem206	A	G	1: 191,348,371	S263G	probably damaging	Het
Trrap	C	T	5: 144,807,391		silent	Het
Ttn	G	T	2: 76,945,570	N1709K	probably damaging	Het
Ube3a	T	C	7: 59,277,020		probably benign	Het
Ube3c	T	C	5: 29,599,056		probably benign	Het
Unc80	T	C	1: 66,527,964	S910P	probably damaging	Het
Usp30	G	A	5: 114,119,621	R280Q	possibly damaging	Het
Vsx1	T	C	2: 150,688,537	S142G	possibly damaging	Het
Wdr95	T	G	5: 149,594,482	C360G	probably benign	Het
Zbtb4	A	G	11: 69,778,214	I588V	probably benign	Het
Zdhhc4	A	T	5: 143,324,849		probably benign	Het
Zfp568	C	A	7: 29,997,863	N69K	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
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'- TTCGGCCAGGAGTAGTAACAC -3'
(R):5'- TATGCCCTCTCCTGAGAATGCC -3'

Sequencing Primer
(F):5'- GCCAGGAGTAGTAACACACATTG -3'
(R):5'- TCCTGAGAATGCCGTCCTG -3'

Posted On

2017-03-31