Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:Ddx31'

384492

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

042567-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.858) question?

Stock #

R4972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28860770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 389 (F389L)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: F389L

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: F389L

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

Meta Mutation Damage Score

0.1246

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,661,404	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,833,773		noncoding transcript	Het
Actl11	A	G	9: 107,929,956	T493A	probably benign	Het
Actn1	T	C	12: 80,173,039	D686G	probably benign	Het
Adamts1	G	A	16: 85,795,945	T525I	probably damaging	Het
Adcy10	T	A	1: 165,556,862	L1064H	probably damaging	Het
AI661453	A	T	17: 47,466,399		probably benign	Het
Apba1	T	A	19: 23,912,536	S433T	probably benign	Het
Arid4b	T	A	13: 14,160,272	N355K	probably benign	Het
Bsn	A	T	9: 108,115,178	M1125K	probably damaging	Het
C2cd5	A	T	6: 143,013,224	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,192,003	M805V	probably benign	Het
Cep89	T	G	7: 35,432,552	L637R	probably damaging	Het
Col24a1	A	T	3: 145,509,684	I1444F	probably benign	Het
Commd4	A	T	9: 57,155,448	S175T	probably benign	Het
Coq7	A	G	7: 118,510,117	V236A	unknown	Het
Dctn2	C	T	10: 127,276,703	R176C	probably damaging	Het
Dgkz	C	T	2: 91,945,702	R72H	probably benign	Het
Dpysl4	A	G	7: 139,090,290	D24G	probably damaging	Het
Dydc1	A	G	14: 41,082,338	T106A	probably benign	Het
F13b	A	G	1: 139,510,923	Y355C	probably damaging	Het
Fcrl5	A	G	3: 87,454,650	M407V	probably benign	Het
Fzd5	C	A	1: 64,736,012	V197L	probably benign	Het
Galnt16	G	T	12: 80,572,329	E70*	probably null	Het
Gm8979	T	C	7: 106,083,314		noncoding transcript	Het
Gpr171	A	T	3: 59,097,965	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484	N763D	probably damaging	Het
Gsta2	A	T	9: 78,337,679	M51K	probably damaging	Het
Hacd3	A	T	9: 64,990,436	I298N	probably damaging	Het
Il18r1	C	T	1: 40,491,064	P317L	probably benign	Het
Iscu	T	A	5: 113,776,976		probably benign	Het
Kif6	A	G	17: 49,707,619	D250G	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,680,067	C82S	probably damaging	Het
Mob4	C	G	1: 55,151,002	L135V	possibly damaging	Het
Mpzl3	T	A	9: 45,062,256		probably benign	Het
Mvp	T	C	7: 126,989,798	D599G	probably damaging	Het
Myo1a	T	C	10: 127,716,309	Y766H	probably benign	Het
Myo5b	A	G	18: 74,627,193	H260R	probably damaging	Het
Nbea	C	T	3: 56,085,246	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216	D211V	probably damaging	Het
Nefl	G	T	14: 68,086,763		probably benign	Het
Nfx1	T	A	4: 40,976,375	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,570,539	C797F	probably damaging	Het
Olfr1280	T	A	2: 111,315,818	V113E	probably damaging	Het
Olfr467	A	G	7: 107,814,746	Q56R	probably benign	Het
Pde6b	A	G	5: 108,425,264	D500G	probably benign	Het
Pgs1	T	C	11: 118,005,893		probably null	Het
Polr3b	T	A	10: 84,638,124	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,220,108	S300T	probably benign	Het
Prl2c2	A	C	13: 13,002,170	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,899,345		probably benign	Het
Prph2	G	T	17: 46,910,807	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,171,275	T74M	probably damaging	Het
Rexo1	A	T	10: 80,549,693	F510L	probably damaging	Het
Rexo2	G	T	9: 48,479,389	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,152,416	K147R	possibly damaging	Het
Skint6	A	G	4: 112,835,068	I1062T	probably benign	Het
Spag16	C	T	1: 70,724,928	R636W	probably damaging	Het
Spata16	T	C	3: 26,840,723	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,374,425	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,423,542	S7G	probably benign	Het
Tex9	A	G	9: 72,478,338		probably null	Het
Thsd7b	C	A	1: 130,188,572	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,669,668	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,296,993	D303A	probably damaging	Het
Trpm7	A	G	2: 126,824,058	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,944,961	E245K	probably benign	Het
Vezt	C	T	10: 94,000,350		probably null	Het
Zscan20	G	A	4: 128,592,359	P183S	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
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
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'- TGGAGCTCTGGTCATTTTCC -3'
(R):5'- GGACAGAAGTGCACTAGGACTC -3'

Sequencing Primer
(F):5'- AAAAGCTGTGTCTCCGTATTTCCAC -3'
(R):5'- TGCACTAGGACTCTCTAGTTAACCAG -3'

Posted On

2016-04-27