Mutagenetix > Incidental Mutations

Incidental Mutation 'R0729:Ddx31'

67360

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

038910-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R0729 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28874174 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 464 (I464T)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: I464T

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: I464T

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

0.152

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.0%

Validation Efficiency

97% (74/76)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,159,455	A828S	probably benign	Het
Acsm3	T	C	7: 119,783,984		probably benign	Het
Adamts12	G	A	15: 11,255,683	R446H	possibly damaging	Het
Adgrb1	A	G	15: 74,548,549	N849S	probably damaging	Het
Ankra2	A	G	13: 98,271,727	D228G	probably damaging	Het
Bicd1	T	C	6: 149,512,914	V375A	probably damaging	Het
Blvrb	A	G	7: 27,448,130	K5E	possibly damaging	Het
Cacna2d2	A	G	9: 107,517,257	N573D	probably benign	Het
Calhm2	C	A	19: 47,132,917	G271V	possibly damaging	Het
Capn13	C	T	17: 73,322,069	G581E	probably damaging	Het
Capzb	T	C	4: 139,288,977		probably benign	Het
Casd1	T	C	6: 4,619,753		probably benign	Het
Clca4b	A	G	3: 144,928,350		probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Crx	A	G	7: 15,871,133		probably benign	Het
Cyp2c68	T	C	19: 39,739,550		probably benign	Het
Dcaf8	T	A	1: 172,172,654	D126E	probably benign	Het
Dhx32	G	A	7: 133,737,421	T155I	probably benign	Het
Elac2	C	A	11: 64,998,523	P567T	possibly damaging	Het
Fat4	A	G	3: 39,000,295		probably benign	Het
Fh1	T	G	1: 175,614,817	N156H	probably damaging	Het
Gm10064	T	C	5: 122,697,521		noncoding transcript	Het
Gm14137	A	G	2: 119,175,353	E131G	probably benign	Het
Gpr22	T	A	12: 31,709,313	K233M	probably damaging	Het
Gpr63	A	G	4: 25,007,480	N68S	probably benign	Het
Gypa	C	T	8: 80,496,792	P66S	unknown	Het
Htr2a	A	T	14: 74,642,147	Q72L	probably benign	Het
Klhdc7b	C	T	15: 89,387,395	R827*	probably null	Het
Leo1	G	A	9: 75,457,138	R520Q	possibly damaging	Het
Lrrc66	T	C	5: 73,608,414	M429V	probably benign	Het
Lrrc74a	C	T	12: 86,745,579	Q225*	probably null	Het
Mamdc4	T	A	2: 25,570,036	N68Y	probably damaging	Het
Map3k10	G	A	7: 27,661,567	P507L	probably damaging	Het
Methig1	T	A	15: 100,374,989	C68S	probably benign	Het
Metrn	C	T	17: 25,796,228		probably benign	Het
Mmp12	C	T	9: 7,358,290	T392I	possibly damaging	Het
Mss51	A	T	14: 20,483,092	I437N	probably damaging	Het
Mtus2	A	G	5: 148,077,287	T297A	probably benign	Het
Myo10	T	C	15: 25,722,157		probably benign	Het
Ncoa7	G	A	10: 30,691,579	P319S	probably benign	Het
Nlrp4d	A	T	7: 10,377,685		probably benign	Het
Obscn	A	G	11: 59,032,709	S6455P	probably damaging	Het
Olfr1447	T	C	19: 12,900,895	N295S	probably damaging	Het
Olfr884	G	T	9: 38,047,827	V202L	probably benign	Het
Pcdh12	A	G	18: 38,282,464	I536T	probably benign	Het
Pex5l	G	T	3: 32,954,536		probably benign	Het
Pla2g2e	A	C	4: 138,880,735	K43Q	possibly damaging	Het
Rasa4	T	C	5: 136,102,070		probably benign	Het
Rsf1	C	T	7: 97,679,027	R1079W	probably damaging	Het
Sez6	A	G	11: 77,976,585	T803A	probably benign	Het
Shcbp1	T	A	8: 4,736,297	N602Y	probably benign	Het
Slc16a13	G	A	11: 70,219,031	P215S	probably damaging	Het
Slc39a6	T	C	18: 24,601,470	Q54R	probably benign	Het
Smg1	C	A	7: 118,146,289		probably benign	Het
Spg7	A	G	8: 123,070,417	N110D	probably damaging	Het
Sptbn1	A	T	11: 30,110,902	S2010T	probably damaging	Het
Sun1	T	A	5: 139,237,864		probably benign	Het
Sytl5	A	G	X: 9,994,497	E717G	probably damaging	Het
Tle1	A	T	4: 72,126,442		probably benign	Het
Tm9sf4	T	A	2: 153,191,145	V290E	probably damaging	Het
Tmem63b	A	G	17: 45,674,134	S179P	probably damaging	Het
Trpm3	T	A	19: 22,987,789	F1549L	probably benign	Het
Ubr4	A	T	4: 139,485,320	Y5063F	possibly damaging	Het
Uroc1	T	A	6: 90,336,955	Y75N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,904	T141A	probably benign	Het
Vps13c	A	G	9: 67,961,649	K3128E	probably damaging	Het
Wdr26	T	C	1: 181,185,905		probably null	Het
Wrn	T	A	8: 33,248,918		probably null	Het
Zfp106	C	T	2: 120,555,248	V13M	probably damaging	Het
Zfp456	G	A	13: 67,366,544	H348Y	probably damaging	Het
Zfpm1	G	A	8: 122,336,659	R819H	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGGCCAGGAGTAGTAACACACATTG -3'
(R):5'- AGCTGAGCCATTTCCTTCTGAACAC -3'

Sequencing Primer
(F):5'- agaccaaggcaggaaaattcaag -3'
(R):5'- GAACTATGCCCTCTCCTGAGAATG -3'

Posted On

2013-09-03