Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Ddx31'

424143

Institutional Source

Beutler Lab

Gene Symbol

Ddx31

Ensembl Gene

ENSMUSG00000026806

Gene Name

DEAD/H box helicase 31

Synonyms

5830444G11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28730418-28795583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28753782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 448 (C448S)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: C448S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: C448S

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: ENSMUST00000152685

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,849,165 (GRCm39)	V1842A	probably damaging	Het
Abi3	A	T	11: 95,732,934 (GRCm39)	F13L	probably benign	Het
Adgre4	A	G	17: 56,125,758 (GRCm39)	K538R	probably benign	Het
Bcas3	C	T	11: 85,342,581 (GRCm39)	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,886,538 (GRCm39)	T376A	probably benign	Het
Ceacam18	C	A	7: 43,286,497 (GRCm39)	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,709,224 (GRCm39)	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,989,148 (GRCm39)		probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Chrm2	A	G	6: 36,500,290 (GRCm39)	K49R	probably damaging	Het
Ciao2b	T	C	8: 105,368,282 (GRCm39)	N14S	probably damaging	Het
Daam1	T	A	12: 71,999,233 (GRCm39)	L623*	probably null	Het
Dnah7a	A	G	1: 53,586,331 (GRCm39)	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,965,928 (GRCm39)	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,057,432 (GRCm39)	R247H	probably damaging	Het
Exoc4	A	G	6: 33,242,934 (GRCm39)	E49G	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxj3	A	G	4: 119,476,596 (GRCm39)	E258G	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Helz2	C	T	2: 180,877,321 (GRCm39)	E1106K	probably damaging	Het
Hip1	G	T	5: 135,465,252 (GRCm39)	S385R	probably benign	Het
Igsf9	C	T	1: 172,312,078 (GRCm39)	T8I	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Katnal2	A	G	18: 77,105,190 (GRCm39)	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 105,918,417 (GRCm39)	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,535,432 (GRCm39)	R570*	probably null	Het
Kif16b	T	A	2: 142,582,889 (GRCm39)	R545S	probably damaging	Het
Kif21b	T	A	1: 136,100,030 (GRCm39)	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,730,571 (GRCm39)		probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mknk2	T	C	10: 80,507,597 (GRCm39)	T60A	probably benign	Het
Ncoa6	T	C	2: 155,248,907 (GRCm39)	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,704,083 (GRCm39)	T109P	probably damaging	Het
Nup214	C	A	2: 31,907,158 (GRCm39)	S995Y	unknown	Het
Or2a5	A	T	6: 42,873,454 (GRCm39)	Q23L	probably benign	Het
Pclo	T	A	5: 14,762,750 (GRCm39)	L456*	probably null	Het
Pde5a	A	G	3: 122,541,825 (GRCm39)	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,456,597 (GRCm39)	P709H	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Rab3c	T	C	13: 110,198,497 (GRCm39)	N179S	possibly damaging	Het
Setdb2	T	A	14: 59,646,885 (GRCm39)	R559S	probably benign	Het
Sf3b1	A	G	1: 55,042,469 (GRCm39)	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,712,155 (GRCm39)	W228L	probably benign	Het
Slc8a2	T	G	7: 15,891,228 (GRCm39)	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,309,251 (GRCm39)	I194L	unknown	Het
Smarcd1	C	T	15: 99,601,128 (GRCm39)	Q45*	probably null	Het
Srcap	T	G	7: 127,139,492 (GRCm39)	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330 (GRCm39)	N9Y	probably damaging	Het
St7	T	C	6: 17,819,317 (GRCm39)	S74P	probably damaging	Het
Stxbp5l	T	A	16: 36,994,688 (GRCm39)	E739V	probably damaging	Het
Sun3	T	A	11: 8,981,496 (GRCm39)	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,047,033 (GRCm39)	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,296,994 (GRCm39)	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,526,939 (GRCm39)	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,376,717 (GRCm39)	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,227,949 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,903,332 (GRCm39)	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,378,292 (GRCm39)	K381E	probably benign	Het
Uaca	T	C	9: 60,778,430 (GRCm39)	V937A	probably benign	Het
Umod	C	T	7: 119,071,577 (GRCm39)	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,924,412 (GRCm39)		probably null	Het
Zbtb47	T	A	9: 121,594,661 (GRCm39)	F540Y	probably damaging	Het
Zfp644	G	A	5: 106,783,541 (GRCm39)	T1002I	probably damaging	Het
Zfp738	A	G	13: 67,819,131 (GRCm39)	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,644,771 (GRCm39)	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,361,352 (GRCm39)		probably null	Het

Other mutations in Ddx31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01664:Ddx31	APN	2	28,765,847 (GRCm39)	splice site	probably benign
IGL01918:Ddx31	APN	2	28,764,176 (GRCm39)	missense	probably damaging	1.00
IGL02174:Ddx31	APN	2	28,749,041 (GRCm39)	missense	probably damaging	1.00
IGL02560:Ddx31	APN	2	28,765,838 (GRCm39)	missense	probably damaging	1.00
IGL02938:Ddx31	APN	2	28,749,035 (GRCm39)	missense	possibly damaging	0.49
R0241:Ddx31	UTSW	2	28,738,303 (GRCm39)	missense	probably damaging	1.00
R0241:Ddx31	UTSW	2	28,738,303 (GRCm39)	missense	probably damaging	1.00
R0440:Ddx31	UTSW	2	28,747,144 (GRCm39)	missense	probably damaging	1.00
R0701:Ddx31	UTSW	2	28,748,789 (GRCm39)	missense	probably null	1.00
R0729:Ddx31	UTSW	2	28,764,186 (GRCm39)	missense	probably damaging	1.00
R1227:Ddx31	UTSW	2	28,747,187 (GRCm39)	missense	probably damaging	1.00
R1532:Ddx31	UTSW	2	28,771,171 (GRCm39)	missense	probably benign	0.00
R1608:Ddx31	UTSW	2	28,749,078 (GRCm39)	missense	probably damaging	0.97
R1646:Ddx31	UTSW	2	28,782,532 (GRCm39)	missense	probably benign
R1674:Ddx31	UTSW	2	28,748,828 (GRCm39)	missense	probably damaging	1.00
R1834:Ddx31	UTSW	2	28,782,465 (GRCm39)	missense	probably damaging	1.00
R1884:Ddx31	UTSW	2	28,749,002 (GRCm39)	missense	probably damaging	0.97
R4133:Ddx31	UTSW	2	28,748,864 (GRCm39)	missense	probably damaging	1.00
R4911:Ddx31	UTSW	2	28,794,696 (GRCm39)	missense	probably benign	0.00
R4972:Ddx31	UTSW	2	28,750,782 (GRCm39)	missense	probably damaging	1.00
R5240:Ddx31	UTSW	2	28,736,042 (GRCm39)	missense	probably benign	0.03
R5450:Ddx31	UTSW	2	28,776,981 (GRCm39)	missense	probably damaging	0.97
R5945:Ddx31	UTSW	2	28,749,902 (GRCm39)	missense	probably damaging	1.00
R5956:Ddx31	UTSW	2	28,764,185 (GRCm39)	missense	probably damaging	1.00
R6235:Ddx31	UTSW	2	28,734,854 (GRCm39)	missense	probably benign	0.00
R6245:Ddx31	UTSW	2	28,734,994 (GRCm39)	missense	probably benign	0.00
R6463:Ddx31	UTSW	2	28,737,525 (GRCm39)	critical splice donor site	probably null
R6647:Ddx31	UTSW	2	28,765,750 (GRCm39)	missense	probably damaging	1.00
R6783:Ddx31	UTSW	2	28,764,188 (GRCm39)	missense	probably benign	0.26
R6917:Ddx31	UTSW	2	28,782,421 (GRCm39)	missense	probably damaging	1.00
R7135:Ddx31	UTSW	2	28,738,318 (GRCm39)	missense	probably benign
R7819:Ddx31	UTSW	2	28,782,463 (GRCm39)	missense	probably damaging	1.00
R8812:Ddx31	UTSW	2	28,730,816 (GRCm39)	unclassified	probably benign
R9122:Ddx31	UTSW	2	28,748,753 (GRCm39)	missense	probably damaging	1.00
R9326:Ddx31	UTSW	2	28,749,008 (GRCm39)	missense	probably damaging	1.00
R9571:Ddx31	UTSW	2	28,750,034 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTGTTTAAACCTGCCTTGCTAG -3'
(R):5'- AAGTGTGCCAACTACCCAG -3'

Sequencing Primer
(F):5'- AAACCTGCCTTGCTAGCATTTATC -3'
(R):5'- AGAAGTCACAGCTACCTCTGGG -3'

Posted On

2016-08-04