Mutagenetix > Incidental Mutation

Incidental Mutation 'R7819:Ddx31'

601718

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

045873-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.832) question?

Stock #

R7819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28840406-28905571 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 28892451 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 602 (L602R)

Ref Sequence

ENSEMBL: ENSMUSP00000109484 (fasta)

Gene Model

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

AlphaFold

Q6NZQ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000113853
AA Change: L602R

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

SMART Domains

Protein: ENSMUSP00000109484
Gene: ENSMUSG00000026806
AA Change: L602R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	G	6: 52,179,274 (GRCm38)		probably benign	Het
Abcg3	T	C	5: 104,977,728 (GRCm38)	T30A	probably benign	Het
Adra1b	A	T	11: 43,835,367 (GRCm38)	V241D	probably damaging	Het
Ahctf1	A	T	1: 179,768,315 (GRCm38)	N170K	probably benign	Het
Ahr	A	G	12: 35,510,000 (GRCm38)	L218P	probably damaging	Het
Apol8	C	T	15: 77,749,759 (GRCm38)	V206M	probably damaging	Het
Arhgap11a	T	A	2: 113,834,918 (GRCm38)		probably null	Het
B3galnt1	T	C	3: 69,575,775 (GRCm38)	Y51C	probably damaging	Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
C77080	A	G	4: 129,222,483 (GRCm38)	V841A	probably benign	Het
Capn3	T	C	2: 120,464,165 (GRCm38)	V98A	probably benign	Het
Casp12	T	C	9: 5,352,805 (GRCm38)	L209P	probably damaging	Het
Ccdc96	A	T	5: 36,485,985 (GRCm38)	Q445L	probably damaging	Het
Cdc37	A	G	9: 21,140,964 (GRCm38)	S301P	probably damaging	Het
Cep89	A	T	7: 35,432,543 (GRCm38)	H634L	probably benign	Het
Chmp3	T	A	6: 71,561,024 (GRCm38)	Y12*	probably null	Het
Clgn	A	T	8: 83,408,200 (GRCm38)	I156F	possibly damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702 (GRCm38)		probably null	Het
Col4a3bp	A	T	13: 96,629,067 (GRCm38)	T447S	possibly damaging	Het
Crb2	T	A	2: 37,791,591 (GRCm38)	N815K	probably benign	Het
Csgalnact2	A	C	6: 118,121,089 (GRCm38)	L97V	possibly damaging	Het
Ctsh	T	A	9: 90,060,503 (GRCm38)	M37K	possibly damaging	Het
D630003M21Rik	T	C	2: 158,216,798 (GRCm38)	E394G	probably damaging	Het
Defb40	T	A	8: 18,975,034 (GRCm38)	Y52F	probably benign	Het
Dip2a	A	G	10: 76,291,028 (GRCm38)	V710A	probably benign	Het
Dnah2	T	C	11: 69,516,593 (GRCm38)	I150V	probably benign	Het
Eln	A	T	5: 134,737,181 (GRCm38)	L56Q	unknown	Het
Ezh1	T	C	11: 101,194,914 (GRCm38)	N639S	probably damaging	Het
Fzd3	A	G	14: 65,235,326 (GRCm38)	F331S	probably damaging	Het
Gbp9	T	C	5: 105,103,879 (GRCm38)	T68A	possibly damaging	Het
Gltp	A	G	5: 114,674,100 (GRCm38)	M104T	probably benign	Het
Gm3854	A	C	7: 6,354,166 (GRCm38)	H326P	probably damaging	Het
Gmps	G	A	3: 63,985,627 (GRCm38)	V118M	probably damaging	Het
Gpsm1	T	C	2: 26,339,693 (GRCm38)	L42P	probably damaging	Het
Hsfy2	T	A	1: 56,636,259 (GRCm38)	H373L	probably benign	Het
Ica1l	A	T	1: 60,015,794 (GRCm38)	F93I	possibly damaging	Het
Idh1	A	G	1: 65,165,118 (GRCm38)	S278P	probably damaging	Het
Ighmbp2	C	T	19: 3,267,276 (GRCm38)	G532D	possibly damaging	Het
Ikbkb	A	G	8: 22,671,726 (GRCm38)	L382S	probably benign	Het
Il1rap	T	A	16: 26,722,401 (GRCm38)	M464K	possibly damaging	Het
Ing2	G	A	8: 47,669,028 (GRCm38)	R162C	probably damaging	Het
Ints1	A	T	5: 139,760,767 (GRCm38)	L1275H	probably damaging	Het
Ispd	A	G	12: 36,381,903 (GRCm38)	T44A	probably benign	Het
Itga1	T	C	13: 115,049,301 (GRCm38)	E55G	probably damaging	Het
Itih4	T	C	14: 30,901,663 (GRCm38)	F930L	probably benign	Het
Kcnh8	A	G	17: 52,956,715 (GRCm38)	T747A	probably benign	Het
Kit	A	G	5: 75,645,932 (GRCm38)	E699G	probably benign	Het
Lamc3	T	C	2: 31,921,763 (GRCm38)	S921P	probably benign	Het
Lrrc63	TGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGC	14: 75,125,221 (GRCm38)		probably benign	Het
Map10	TCAGTTGTCCAG	TCAG	8: 125,670,521 (GRCm38)		probably null	Het
Map2k5	T	C	9: 63,358,018 (GRCm38)	E76G	probably damaging	Het
Mgat3	G	T	15: 80,211,772 (GRCm38)	E267*	probably null	Het
Npepps	C	A	11: 97,248,269 (GRCm38)	G159V	probably damaging	Het
Nrap	A	G	19: 56,335,288 (GRCm38)	V1284A	probably benign	Het
Olfr518	T	A	7: 108,881,403 (GRCm38)	I68F	probably damaging	Het
Olfr792	A	T	10: 129,540,693 (GRCm38)	H52L	probably benign	Het
Oxgr1	T	C	14: 120,022,869 (GRCm38)		probably null	Het
Pcdhb18	T	C	18: 37,491,255 (GRCm38)	L546P	possibly damaging	Het
Pcdhga5	G	A	18: 37,696,580 (GRCm38)	V694M	probably damaging	Het
Pde9a	A	T	17: 31,460,200 (GRCm38)	I255F	possibly damaging	Het
Pi4k2a	G	A	19: 42,090,574 (GRCm38)	G25R	probably benign	Het
Plscr4	C	T	9: 92,490,790 (GRCm38)	R322*	probably null	Het
Ppp1r37	A	G	7: 19,534,064 (GRCm38)	I302T	probably damaging	Het
Prkar2a	T	A	9: 108,745,545 (GRCm38)	Y311N	probably damaging	Het
Prkd3	A	T	17: 78,972,501 (GRCm38)	D254E	probably benign	Het
Prmt9	T	C	8: 77,568,344 (GRCm38)	V439A	probably benign	Het
Ptpra	T	C	2: 130,504,206 (GRCm38)	S96P	probably benign	Het
Rnf103	A	G	6: 71,508,930 (GRCm38)	T182A	probably benign	Het
Rpusd4	A	G	9: 35,267,932 (GRCm38)	S15G	probably benign	Het
Sco1	A	G	11: 67,058,393 (GRCm38)	Y229C	probably damaging	Het
Skint5	T	A	4: 113,559,835 (GRCm38)	Q1139L	unknown	Het
Slc16a12	A	G	19: 34,675,179 (GRCm38)	V189A	probably damaging	Het
Slfn8	T	G	11: 83,004,255 (GRCm38)	N575T	probably damaging	Het
Sorbs1	G	C	19: 40,376,800 (GRCm38)	R180G	probably benign	Het
Stard9	T	C	2: 120,700,984 (GRCm38)	L2574P	probably damaging	Het
Syn3	A	T	10: 86,055,540 (GRCm38)		probably benign	Het
Tspo2	A	T	17: 48,449,957 (GRCm38)	D32E	probably damaging	Het
Vmn1r72	A	G	7: 11,669,625 (GRCm38)	F299L	probably benign	Het
Wdr66	A	G	5: 123,254,259 (GRCm38)		probably benign	Het
Xbp1	G	A	11: 5,524,886 (GRCm38)	M262I	probably benign	Het
Zfp354b	G	A	11: 50,923,805 (GRCm38)	Q98*	probably null	Het

Other mutations in Ddx31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01664:Ddx31	APN	2	28,875,835 (GRCm38)	splice site	probably benign
IGL01918:Ddx31	APN	2	28,874,164 (GRCm38)	missense	probably damaging	1.00
IGL02174:Ddx31	APN	2	28,859,029 (GRCm38)	missense	probably damaging	1.00
IGL02560:Ddx31	APN	2	28,875,826 (GRCm38)	missense	probably damaging	1.00
IGL02938:Ddx31	APN	2	28,859,023 (GRCm38)	missense	possibly damaging	0.49
R0241:Ddx31	UTSW	2	28,848,291 (GRCm38)	missense	probably damaging	1.00
R0241:Ddx31	UTSW	2	28,848,291 (GRCm38)	missense	probably damaging	1.00
R0440:Ddx31	UTSW	2	28,857,132 (GRCm38)	missense	probably damaging	1.00
R0701:Ddx31	UTSW	2	28,858,777 (GRCm38)	missense	probably null	1.00
R0729:Ddx31	UTSW	2	28,874,174 (GRCm38)	missense	probably damaging	1.00
R1227:Ddx31	UTSW	2	28,857,175 (GRCm38)	missense	probably damaging	1.00
R1532:Ddx31	UTSW	2	28,881,159 (GRCm38)	missense	probably benign	0.00
R1608:Ddx31	UTSW	2	28,859,066 (GRCm38)	missense	probably damaging	0.97
R1646:Ddx31	UTSW	2	28,892,520 (GRCm38)	missense	probably benign
R1674:Ddx31	UTSW	2	28,858,816 (GRCm38)	missense	probably damaging	1.00
R1834:Ddx31	UTSW	2	28,892,453 (GRCm38)	missense	probably damaging	1.00
R1884:Ddx31	UTSW	2	28,858,990 (GRCm38)	missense	probably damaging	0.97
R4133:Ddx31	UTSW	2	28,858,852 (GRCm38)	missense	probably damaging	1.00
R4911:Ddx31	UTSW	2	28,904,684 (GRCm38)	missense	probably benign	0.00
R4972:Ddx31	UTSW	2	28,860,770 (GRCm38)	missense	probably damaging	1.00
R5240:Ddx31	UTSW	2	28,846,030 (GRCm38)	missense	probably benign	0.03
R5358:Ddx31	UTSW	2	28,863,770 (GRCm38)	missense	probably damaging	0.98
R5450:Ddx31	UTSW	2	28,886,969 (GRCm38)	missense	probably damaging	0.97
R5945:Ddx31	UTSW	2	28,859,890 (GRCm38)	missense	probably damaging	1.00
R5956:Ddx31	UTSW	2	28,874,173 (GRCm38)	missense	probably damaging	1.00
R6235:Ddx31	UTSW	2	28,844,842 (GRCm38)	missense	probably benign	0.00
R6245:Ddx31	UTSW	2	28,844,982 (GRCm38)	missense	probably benign	0.00
R6463:Ddx31	UTSW	2	28,847,513 (GRCm38)	critical splice donor site	probably null
R6647:Ddx31	UTSW	2	28,875,738 (GRCm38)	missense	probably damaging	1.00
R6783:Ddx31	UTSW	2	28,874,176 (GRCm38)	missense	probably benign	0.26
R6917:Ddx31	UTSW	2	28,892,409 (GRCm38)	missense	probably damaging	1.00
R7135:Ddx31	UTSW	2	28,848,306 (GRCm38)	missense	probably benign
R8812:Ddx31	UTSW	2	28,840,804 (GRCm38)	unclassified	probably benign
R9122:Ddx31	UTSW	2	28,858,741 (GRCm38)	missense	probably damaging	1.00
R9326:Ddx31	UTSW	2	28,858,996 (GRCm38)	missense	probably damaging	1.00
R9571:Ddx31	UTSW	2	28,860,022 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAATGTGCCTGTGTTATAGTCGTC -3'
(R):5'- TCTGTACTGAAGACAGGCAGAC -3'

Sequencing Primer
(F):5'- CCTGGTTCTGTTCTTTCTAGGCAAG -3'
(R):5'- CAGGCAGACACTAGTGGTAATTTATC -3'

Posted On

2019-12-03