Mutagenetix > Incidental Mutation

Incidental Mutation 'R5450:Ddx31'

429252

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

043015-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.855) question?

Stock #

R5450 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28730418-28795583 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28776981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 567 (S567P)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: S567P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: S567P

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

0.2371

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (74/76)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Arhgef4	T	G	1: 34,846,405 (GRCm39)		probably benign	Het
Atg14	T	C	14: 47,788,921 (GRCm39)	N144S	probably benign	Het
Cacna1h	A	T	17: 25,602,160 (GRCm39)	M1454K	probably damaging	Het
Catsperb	A	T	12: 101,412,327 (GRCm39)	H138L	possibly damaging	Het
Cd200r2	T	A	16: 44,729,934 (GRCm39)	D159E	probably benign	Het
Cd79a	G	T	7: 24,598,687 (GRCm39)	G79C	probably damaging	Het
Ceacam20	A	G	7: 19,712,133 (GRCm39)	H38R	possibly damaging	Het
Cers1	T	C	8: 70,770,947 (GRCm39)	L119P	probably damaging	Het
Ces1f	C	A	8: 93,992,423 (GRCm39)	V343L	probably benign	Het
Ces3a	G	A	8: 105,784,550 (GRCm39)	G511S	possibly damaging	Het
Cyfip2	A	G	11: 46,175,079 (GRCm39)	C98R	probably benign	Het
Cyp2j11	C	A	4: 96,228,113 (GRCm39)	V169L	probably benign	Het
Cyp4f17	A	G	17: 32,747,860 (GRCm39)	T523A	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsg1b	A	C	18: 20,542,121 (GRCm39)	H876P	probably damaging	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Eno4	T	C	19: 58,948,679 (GRCm39)	F393S	possibly damaging	Het
Eral1	C	T	11: 77,969,183 (GRCm39)	D106N	probably benign	Het
Esp18	G	T	17: 39,719,070 (GRCm39)	R23M	probably benign	Het
Fam184b	C	T	5: 45,697,143 (GRCm39)	V674I	probably benign	Het
Fbxw13	A	C	9: 109,013,225 (GRCm39)	N154K	probably benign	Het
Gtpbp6	A	G	5: 110,254,991 (GRCm39)	V130A	probably damaging	Het
Hc	T	C	2: 34,903,050 (GRCm39)	D1067G	possibly damaging	Het
Ighg1	A	T	12: 113,294,126 (GRCm39)	S6T	unknown	Het
Ikzf3	C	T	11: 98,357,912 (GRCm39)	R475H	probably damaging	Het
Itprid1	T	A	6: 55,945,796 (GRCm39)		probably null	Het
Kcmf1	A	T	6: 72,819,913 (GRCm39)	L311*	probably null	Het
Kmt2d	C	A	15: 98,752,967 (GRCm39)	E184D	probably damaging	Het
Lrguk	A	T	6: 34,047,996 (GRCm39)	I314F	probably damaging	Het
Maml2	A	C	9: 13,617,763 (GRCm39)	S370R	probably damaging	Het
Mroh1	C	A	15: 76,316,547 (GRCm39)		probably benign	Het
Mx1	A	T	16: 97,255,347 (GRCm39)	Y235*	probably null	Het
Or4x6	A	G	2: 89,949,013 (GRCm39)	*310Q	probably null	Het
Pamr1	T	G	2: 102,469,662 (GRCm39)	Y403D	probably damaging	Het
Panx2	A	G	15: 88,953,162 (GRCm39)	E551G	possibly damaging	Het
Patl2	A	G	2: 121,955,762 (GRCm39)	V258A	probably benign	Het
Ppm1m	A	G	9: 106,074,041 (GRCm39)	F255L	probably benign	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Psg18	T	A	7: 18,087,350 (GRCm39)	I103F	probably benign	Het
Rpl39-ps	A	G	15: 102,543,583 (GRCm39)		noncoding transcript	Het
Rps6kb1	A	T	11: 86,423,663 (GRCm39)	F106I	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sardh	G	T	2: 27,129,710 (GRCm39)	T245K	possibly damaging	Het
Shprh	T	G	10: 11,088,074 (GRCm39)	I1619S	possibly damaging	Het
Skint1	G	A	4: 111,882,729 (GRCm39)	V258I	probably benign	Het
Slc27a5	T	C	7: 12,728,869 (GRCm39)	D331G	probably benign	Het
Slc29a2	A	G	19: 5,079,303 (GRCm39)	I309V	probably benign	Het
Slc30a5	C	T	13: 100,957,680 (GRCm39)	V130I	possibly damaging	Het
Slc4a3	C	A	1: 75,529,300 (GRCm39)	A531D	probably damaging	Het
Slc6a16	C	T	7: 44,910,672 (GRCm39)	T399I	probably benign	Het
Slitrk6	T	A	14: 110,987,529 (GRCm39)	H726L	probably benign	Het
Snx2	A	G	18: 53,343,784 (GRCm39)	K309R	probably damaging	Het
Speer4f2	T	A	5: 17,578,217 (GRCm39)	C4S	possibly damaging	Het
Sulf1	T	C	1: 12,867,131 (GRCm39)	V105A	probably benign	Het
Tcstv7a	A	T	13: 120,289,899 (GRCm39)	V99E	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Vmn1r47	T	C	6: 89,999,195 (GRCm39)	L109P	probably damaging	Het
Vmn1r73	C	A	7: 11,490,376 (GRCm39)	Q65K	possibly damaging	Het
Vmn1r76	T	C	7: 11,664,611 (GRCm39)	Y166C	probably damaging	Het
Vmn2r2	T	C	3: 64,034,011 (GRCm39)	T504A	probably benign	Het
Wdr75	C	A	1: 45,851,324 (GRCm39)	A300E	probably benign	Het
Yars1	A	G	4: 129,091,039 (GRCm39)	E149G	possibly damaging	Het
Zbtb18	T	C	1: 177,274,771 (GRCm39)	F35L	probably damaging	Het
Zfp366	A	G	13: 99,366,093 (GRCm39)	Y418C	probably damaging	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
R5358:Ddx31	UTSW	2	28,753,782 (GRCm39)	missense	probably damaging	0.98
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'- GGAAAACTCCAGAGTGCCAC -3'
(R):5'- TCTGAGCCTGCTTCCAAACC -3'

Sequencing Primer
(F):5'- GAGTGCCACCAAAGGTCTTTTAC -3'
(R):5'- TGCACAATTACTGCAGAATGAAGGC -3'

Posted On

2016-09-06