Mutagenetix > Incidental Mutation

Incidental Mutation 'R0440:Ddx31'

46670

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

038641-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R0440 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

28730418-28795583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28747144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 208 (I208F)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: I208F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: I208F

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

0.8466

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

99% (68/69)

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
A4galt	G	A	15: 83,112,694 (GRCm39)	R30W	probably damaging	Het
Adam7	T	C	14: 68,748,305 (GRCm39)		probably null	Het
Agl	A	T	3: 116,552,455 (GRCm39)	L1158Q	probably damaging	Het
Akap9	T	C	5: 4,114,569 (GRCm39)	S66P	probably damaging	Het
Akr1c20	T	A	13: 4,537,207 (GRCm39)	D316V	probably benign	Het
App	C	A	16: 84,853,302 (GRCm39)	E259*	probably null	Het
Arhgef4	A	G	1: 34,784,529 (GRCm39)		probably null	Het
Armc9	G	A	1: 86,121,984 (GRCm39)		probably null	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Btaf1	C	T	19: 36,964,053 (GRCm39)	P875S	probably damaging	Het
Cc2d1b	T	A	4: 108,483,013 (GRCm39)		probably null	Het
Ccar1	C	T	10: 62,616,236 (GRCm39)	V165I	possibly damaging	Het
Ccdc106	A	T	7: 5,063,244 (GRCm39)	I250F	probably damaging	Het
Ccny	T	C	18: 9,332,917 (GRCm39)	I205V	probably benign	Het
Cfap52	T	A	11: 67,844,914 (GRCm39)	I52L	probably benign	Het
Chd8	T	A	14: 52,442,283 (GRCm39)	T2096S	possibly damaging	Het
Clstn3	G	A	6: 124,428,372 (GRCm39)	T423I	probably damaging	Het
Col13a1	T	C	10: 61,703,262 (GRCm39)	D440G	possibly damaging	Het
Dclk3	G	A	9: 111,298,231 (GRCm39)	V592M	probably damaging	Het
Dlat	A	T	9: 50,556,419 (GRCm39)		probably null	Het
Eml4	T	C	17: 83,753,487 (GRCm39)		probably null	Het
Enpp2	T	A	15: 54,710,633 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,244,315 (GRCm39)	S38G	possibly damaging	Het
Gcnt1	G	A	19: 17,307,680 (GRCm39)	T15I	probably benign	Het
Gm21834	T	C	17: 58,049,121 (GRCm39)	T32A	possibly damaging	Het
Golga2	A	G	2: 32,192,945 (GRCm39)	D394G	probably damaging	Het
Gtf3c4	G	T	2: 28,730,181 (GRCm39)		probably null	Het
Igkv4-69	A	G	6: 69,261,253 (GRCm39)		probably benign	Het
Inpp5j	T	C	11: 3,451,150 (GRCm39)	R500G	possibly damaging	Het
Kif5b	A	T	18: 6,226,980 (GRCm39)		probably benign	Het
Klhl36	A	G	8: 120,603,290 (GRCm39)	E515G	probably damaging	Het
Lifr	C	T	15: 7,186,672 (GRCm39)	R59*	probably null	Het
Lrif1	A	T	3: 106,641,714 (GRCm39)	Q10L	possibly damaging	Het
Lrp8	A	G	4: 107,726,295 (GRCm39)	E908G	probably damaging	Het
Lrrc23	A	T	6: 124,747,667 (GRCm39)	D307E	probably benign	Het
Mpv17l	T	C	16: 13,762,583 (GRCm39)	F27L	probably damaging	Het
Mta3	C	T	17: 84,074,016 (GRCm39)	A76V	probably damaging	Het
Muc5ac	T	A	7: 141,345,771 (GRCm39)	Y202*	probably null	Het
Naprt	A	G	15: 75,762,918 (GRCm39)		probably benign	Het
Npr2	T	A	4: 43,650,315 (GRCm39)	V960D	probably damaging	Het
Oca2	A	T	7: 56,073,100 (GRCm39)	Y765F	probably benign	Het
Or2d2	A	T	7: 106,727,939 (GRCm39)	H220Q	probably benign	Het
Plxna2	T	A	1: 194,326,712 (GRCm39)	Y215*	probably null	Het
Prdm16	G	A	4: 154,561,084 (GRCm39)		probably benign	Het
Ptn	A	G	6: 36,721,432 (GRCm39)	S3P	probably benign	Het
Pus10	T	C	11: 23,623,331 (GRCm39)		probably benign	Het
Rad21	A	T	15: 51,831,754 (GRCm39)	D442E	probably benign	Het
Rmdn2	A	G	17: 79,975,384 (GRCm39)	H291R	probably damaging	Het
Rp1	A	G	1: 4,415,863 (GRCm39)	S1750P	probably damaging	Het
Samd4b	A	T	7: 28,107,585 (GRCm39)	I228N	probably benign	Het
Sdr9c7	G	T	10: 127,734,822 (GRCm39)		probably benign	Het
Slc13a2	T	C	11: 78,294,001 (GRCm39)	N254D	probably benign	Het
Slc16a8	T	A	15: 79,136,807 (GRCm39)	I132F	probably damaging	Het
Slc18b1	T	A	10: 23,694,976 (GRCm39)	Y274N	probably benign	Het
Slc45a2	A	T	15: 11,000,903 (GRCm39)	M1L	probably benign	Het
Smc1b	A	G	15: 84,996,874 (GRCm39)		probably benign	Het
Stab2	T	C	10: 86,785,792 (GRCm39)	S617G	probably benign	Het
Stk10	A	G	11: 32,554,190 (GRCm39)	M626V	probably damaging	Het
Synpo2l	T	G	14: 20,711,466 (GRCm39)	I385L	possibly damaging	Het
Tmprss11d	T	C	5: 86,486,671 (GRCm39)	Y73C	probably damaging	Het
Ttc21b	A	G	2: 66,066,726 (GRCm39)	V309A	probably benign	Het
Tubgcp6	A	G	15: 88,987,268 (GRCm39)	I1235T	probably benign	Het
Usp8	A	G	2: 126,567,310 (GRCm39)	I110V	probably benign	Het
Vps13c	G	A	9: 67,880,143 (GRCm39)	G3442S	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp207	T	A	11: 80,286,333 (GRCm39)		probably benign	Het
Zfp748	A	C	13: 67,701,144 (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
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
R5358:Ddx31	UTSW	2	28,753,782 (GRCm39)	missense	probably damaging	0.98
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'- TGATTGCATCTGCACAGAAACTCCC -3'
(R):5'- CCACTGAAGTGCCATTTACCTACCC -3'

Sequencing Primer
(F):5'- CCCACATACTGGAGACACTTAG -3'
(R):5'- tttgaatacagtgtcttatgtagtcc -3'

Posted On

2013-06-11