Mutagenetix > Incidental Mutation

Incidental Mutation 'R1834:Ddx31'

205013

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

039861-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R1834 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28892453 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 603 (H603Y)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: H603Y

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: H603Y

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

0.8622

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

97% (116/119)

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: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,208,487	D20G	probably damaging	Het
2310061N02Rik	T	A	16: 88,707,898	S4C	unknown	Het
4933416C03Rik	T	C	10: 116,112,665	R319G	probably benign	Het
Abca3	A	T	17: 24,376,692	N340Y	probably benign	Het
Abcc1	A	G	16: 14,423,117	I513V	possibly damaging	Het
Acacb	C	T	5: 114,235,475	T1855M	probably damaging	Het
Ace	A	G	11: 105,986,094		probably benign	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adarb1	C	A	10: 77,317,231		probably benign	Het
Afm	T	A	5: 90,526,424	M265K	probably benign	Het
Agl	A	G	3: 116,788,351	F293S	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Arhgap31	C	A	16: 38,603,703	S667I	probably benign	Het
Bco1	A	G	8: 117,117,437	T297A	probably benign	Het
Bmp1	T	C	14: 70,508,831	S123G	possibly damaging	Het
Caps2	G	A	10: 112,195,718	D283N	possibly damaging	Het
Ccdc57	A	C	11: 120,861,219	S845R	probably benign	Het
Cd209f	A	G	8: 4,104,491	S119P	probably damaging	Het
Chrna6	A	G	8: 27,407,214	S212P	probably benign	Het
Col10a1	G	C	10: 34,395,015	A328P	probably damaging	Het
Col4a2	A	G	8: 11,402,997	E188G	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cttnbp2	C	T	6: 18,501,966	V16M	probably damaging	Het
D430041D05Rik	A	G	2: 104,168,101	S1102P	probably damaging	Het
Ddx52	G	A	11: 83,959,497	C568Y	probably benign	Het
Dgki	C	A	6: 37,034,701		probably benign	Het
Dmrt1	A	T	19: 25,509,699	Q123L	probably damaging	Het
Dnah5	A	T	15: 28,409,124	M3563L	probably benign	Het
Dnah7b	A	T	1: 46,233,759	N2349I	possibly damaging	Het
Dscaml1	T	G	9: 45,683,632	S678A	probably benign	Het
Ece1	C	T	4: 137,958,001	R601W	probably damaging	Het
Ece1	A	G	4: 137,958,128	N643S	probably damaging	Het
Eno1b	A	G	18: 48,047,463	Y236C	probably damaging	Het
Esco1	T	C	18: 10,594,350	E312G	probably damaging	Het
Eya3	T	A	4: 132,707,118	V276E	probably damaging	Het
Fam161b	A	G	12: 84,348,778		probably benign	Het
Fem1c	C	T	18: 46,505,282	G551D	probably damaging	Het
Fer1l6	T	C	15: 58,557,869	I155T	possibly damaging	Het
Gbp7	A	G	3: 142,534,680	Y53C	probably damaging	Het
Gjb3	G	A	4: 127,326,431	R103W	probably damaging	Het
Gm10030	C	T	9: 111,004,879		noncoding transcript	Het
Gm1966	A	T	7: 106,603,776	V87D	possibly damaging	Het
Gm3443	T	A	19: 21,555,679	H2Q	unknown	Het
Gm5800	T	C	14: 51,716,092	E22G	possibly damaging	Het
Gsdma2	G	T	11: 98,649,079	R9L	probably damaging	Het
Ica1l	A	G	1: 60,028,236		probably benign	Het
Ice1	G	A	13: 70,615,338	T167I	probably damaging	Het
Ifi204	T	A	1: 173,747,606	R618S	unknown	Het
Itga2	C	A	13: 114,856,726	K784N	probably damaging	Het
Itga2	T	A	13: 114,856,727	K784M	probably damaging	Het
Kif3b	A	G	2: 153,317,485	E402G	probably benign	Het
Lrp2	T	C	2: 69,466,880	I3246V	probably benign	Het
Lrrn3	G	T	12: 41,453,518	L267I	probably damaging	Het
Map1s	A	G	8: 70,916,411	Y868C	probably damaging	Het
Mcm5	A	G	8: 75,119,273	T370A	possibly damaging	Het
Nat8f7	T	C	6: 85,707,811	S16G	probably benign	Het
Nav3	T	C	10: 109,720,022	T1683A	probably damaging	Het
Nbeal2	T	C	9: 110,627,129	N2417S	probably damaging	Het
Neb	T	C	2: 52,236,895	N3605S	probably damaging	Het
Net1	A	T	13: 3,912,941		probably benign	Het
Nsd1	A	G	13: 55,313,351	T2464A	possibly damaging	Het
Nt5e	T	A	9: 88,370,187	I534N	probably damaging	Het
Nudt12	T	A	17: 59,011,076	H58L	probably damaging	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr291	A	G	7: 84,856,482	T38A	probably damaging	Het
Olfr403	A	G	11: 74,195,653	H50R	probably benign	Het
Olfr695	A	G	7: 106,874,141	Y35H	probably damaging	Het
Olfr826	A	G	10: 130,180,832	I16T	probably benign	Het
Pef1	C	A	4: 130,121,173	C10*	probably null	Het
Phf21b	A	G	15: 84,797,346	Y256H	probably damaging	Het
Phox2a	G	T	7: 101,820,945		probably null	Het
Pi16	A	G	17: 29,327,445	E399G	possibly damaging	Het
Pipox	A	T	11: 77,882,123	Y321N	probably damaging	Het
Plin4	A	G	17: 56,103,522	S1170P	probably damaging	Het
Pnma2	C	T	14: 66,917,213	S362L	possibly damaging	Het
Ppp1r9a	T	C	6: 5,113,710	I738T	probably damaging	Het
Prkcsh	A	T	9: 22,008,338	K188M	probably damaging	Het
Rcc1l	A	T	5: 134,163,659	Y309N	probably damaging	Het
Ripk1	A	G	13: 34,015,213	T123A	probably benign	Het
Robo4	A	G	9: 37,413,059	D961G	probably benign	Het
Rps27a	A	G	11: 29,546,299	Y105H	probably benign	Het
Scaper	A	G	9: 55,816,734	Y641H	possibly damaging	Het
Scn1a	C	A	2: 66,324,616	Q666H	probably benign	Het
Scn1a	T	A	2: 66,324,617	Q666L	probably benign	Het
Sdhaf4	T	C	1: 24,003,153		probably null	Het
Sec14l3	A	G	11: 4,066,510		probably benign	Het
Selp	C	A	1: 164,128,160		probably null	Het
Sim1	A	G	10: 50,909,828	D259G	probably damaging	Het
Sptan1	T	A	2: 29,992,001		probably benign	Het
Sptbn4	T	A	7: 27,366,646	E679V	probably null	Het
Sytl3	G	A	17: 6,728,327	E169K	probably benign	Het
Taar1	T	C	10: 23,921,189	C262R	probably benign	Het
Tbc1d32	A	G	10: 56,017,604	I1291T	probably benign	Het
Tcrg-C3	A	G	13: 19,263,365	T163A	possibly damaging	Het
Tet1	G	A	10: 62,813,665	P89S	probably damaging	Het
Tgfbrap1	C	A	1: 43,071,635	G7W	probably damaging	Het
Thada	A	G	17: 84,226,004	V1673A	possibly damaging	Het
Thbs4	A	G	13: 92,761,481	V610A	probably benign	Het
Tmem163	A	G	1: 127,677,509	S41P	probably benign	Het
Tmem65	A	T	15: 58,787,113	H200Q	probably damaging	Het
Trim62	T	C	4: 128,909,225	V356A	possibly damaging	Het
Ttn	T	C	2: 76,732,158	D28781G	probably damaging	Het
Ttn	C	T	2: 76,763,260	V20679I	probably benign	Het
Unc80	A	T	1: 66,639,248	T2063S	possibly damaging	Het
Vav3	A	G	3: 109,506,426	T227A	probably benign	Het
Vmn2r118	A	T	17: 55,592,456	I816N	probably damaging	Het
Vmn2r26	T	A	6: 124,061,410	M648K	possibly damaging	Het
Vmn2r88	T	G	14: 51,413,030		probably benign	Het
Vwa3a	A	G	7: 120,790,136	T66A	probably benign	Het
Xirp2	T	A	2: 67,511,140	Y1242N	probably damaging	Het
Ywhag	G	A	5: 135,911,530	T70M	probably damaging	Het
Zcchc6	A	T	13: 59,814,935	Y339*	probably null	Het
Zfp248	T	C	6: 118,428,970	T452A	probably damaging	Het
Zfp988	A	T	4: 147,332,887	I593F	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
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

Predicted Primers

PCR Primer
(F):5'- AAATGTGCCTGTGTTATAGTCGTC -3'
(R):5'- TCTGTACTGAAGACAGGCAGAC -3'

Sequencing Primer
(F):5'- CCTGGTTCTGTTCTTTCTAGGCAAG -3'
(R):5'- CAGGCAGACACTAGTGGTAATTTATC -3'

Posted On

2014-06-23