Mutagenetix > Incidental Mutation

Incidental Mutation 'R5240:Ddx31'

400679

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

042811-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R5240 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28730418-28795583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28736042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 127 (M127V)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably benign
Transcript: ENSMUST00000113853
AA Change: M127V

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: M127V

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: ENSMUST00000147779

Meta Mutation Damage Score

0.1468

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	C	3: 59,659,449 (GRCm39)	T301P	probably damaging	Het
Cdc42bpg	T	G	19: 6,365,929 (GRCm39)	L786R	probably damaging	Het
Cfap73	C	T	5: 120,767,772 (GRCm39)	V260I	probably damaging	Het
Chchd10	A	T	10: 75,773,283 (GRCm39)	N131I	probably damaging	Het
Chn2	T	C	6: 54,197,680 (GRCm39)	V190A	probably benign	Het
Clec2l	C	T	6: 38,650,387 (GRCm39)	T64I	probably damaging	Het
Cpeb3	T	A	19: 37,151,915 (GRCm39)	T154S	probably damaging	Het
D130043K22Rik	A	G	13: 25,061,960 (GRCm39)	E643G	probably damaging	Het
Dennd1b	A	G	1: 138,990,615 (GRCm39)	Y193C	probably damaging	Het
Dgke	T	A	11: 88,941,511 (GRCm39)	D288V	probably damaging	Het
Dst	T	A	1: 34,247,639 (GRCm39)	L1683*	probably null	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
E130116L18Rik	G	T	5: 25,428,018 (GRCm39)		probably benign	Het
Eif2b5	G	A	16: 20,320,148 (GRCm39)	V115I	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Fgfr3	A	T	5: 33,887,382 (GRCm39)	T234S	probably damaging	Het
Gipc2	A	T	3: 151,808,299 (GRCm39)	D251E	possibly damaging	Het
Gm11787	A	C	4: 3,511,810 (GRCm39)		noncoding transcript	Het
Haus6	A	G	4: 86,501,415 (GRCm39)	Y819H	possibly damaging	Het
Homez	G	A	14: 55,095,531 (GRCm39)	A59V	probably damaging	Het
Iffo1	T	C	6: 125,129,423 (GRCm39)	V363A	probably benign	Het
Ifit2	T	A	19: 34,551,796 (GRCm39)	D445E	probably benign	Het
Ipo9	A	C	1: 135,317,344 (GRCm39)		probably benign	Het
Kcnv1	C	T	15: 44,976,640 (GRCm39)	G216R	probably damaging	Het
Kdm6b	A	C	11: 69,292,730 (GRCm39)		probably benign	Het
Mplkip	T	C	13: 17,870,304 (GRCm39)	S79P	probably damaging	Het
Nae1	T	C	8: 105,249,776 (GRCm39)		probably benign	Het
Nfe2l2	A	T	2: 75,506,353 (GRCm39)	N582K	possibly damaging	Het
Nsmce4a	G	A	7: 130,138,754 (GRCm39)	R297C	probably damaging	Het
Or1e1f	T	C	11: 73,855,632 (GRCm39)	L66P	probably damaging	Het
Or3a1d	T	A	11: 74,238,068 (GRCm39)	D114V	probably damaging	Het
Or5p70	A	T	7: 107,994,909 (GRCm39)	D194V	probably damaging	Het
Osbp	T	A	19: 11,955,654 (GRCm39)	F357I	probably damaging	Het
Pcdhb4	A	G	18: 37,442,979 (GRCm39)	D763G	possibly damaging	Het
Pcdhgb2	A	C	18: 37,824,103 (GRCm39)	I365L	possibly damaging	Het
Pde6g	A	G	11: 120,338,912 (GRCm39)		probably benign	Het
Pigo	C	A	4: 43,020,675 (GRCm39)	V756L	possibly damaging	Het
Pkhd1	G	T	1: 20,345,865 (GRCm39)	T2721K	probably benign	Het
Pls1	A	T	9: 95,658,675 (GRCm39)		probably null	Het
Prim2	A	G	1: 33,519,397 (GRCm39)		probably benign	Het
Prkd2	T	A	7: 16,589,711 (GRCm39)	I471N	probably benign	Het
Prrc2b	C	T	2: 32,096,408 (GRCm39)	T593I	probably benign	Het
Ptch2	C	A	4: 116,963,335 (GRCm39)		probably benign	Het
Pth	A	T	7: 112,985,051 (GRCm39)	D107E	probably damaging	Het
Pycr2	A	C	1: 180,735,188 (GRCm39)	Q315P	probably benign	Het
Rbpj	A	T	5: 53,806,782 (GRCm39)	Y209F	probably damaging	Het
Ripk4	C	A	16: 97,544,967 (GRCm39)	R560L	probably damaging	Het
Sdr42e1	T	C	8: 118,390,021 (GRCm39)	R207G	probably benign	Het
Sipa1l1	A	G	12: 82,388,362 (GRCm39)	Y196C	possibly damaging	Het
Smarcc2	T	C	10: 128,316,875 (GRCm39)		probably null	Het
Stom	T	A	2: 35,226,889 (GRCm39)	I15F	probably benign	Het
Sugp2	G	T	8: 70,695,925 (GRCm39)	L299F	probably benign	Het
Tbrg4	A	T	11: 6,567,516 (GRCm39)		probably null	Het
Tkt	G	T	14: 30,287,635 (GRCm39)	G210C	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Trip12	A	G	1: 84,771,854 (GRCm39)	I98T	probably benign	Het
Unc5b	A	G	10: 60,610,419 (GRCm39)	I466T	probably damaging	Het
Unc79	T	A	12: 103,037,010 (GRCm39)	F599L	probably damaging	Het
Vav1	G	A	17: 57,604,122 (GRCm39)	E151K	probably damaging	Het
Vcan	T	G	13: 89,840,651 (GRCm39)	D1631A	probably benign	Het
Vmn2r4	A	C	3: 64,314,358 (GRCm39)	S208A	possibly damaging	Het
Zfp619	A	G	7: 39,186,642 (GRCm39)	T891A	possibly damaging	Het
Zfp672	A	G	11: 58,220,527 (GRCm39)		probably benign	Het
Znhit1	T	A	5: 137,011,235 (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
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'- CTGCAGATACTATAGGGTAGAGGGC -3'
(R):5'- GAGCTTGAGTGCCGAAATGG -3'

Sequencing Primer
(F):5'- TAGAGGGCAGACTCACCC -3'
(R):5'- TGGAAGGAAATCCAGTCTGCATAC -3'

Posted On

2016-07-06