Mutagenetix > Incidental Mutation

Incidental Mutation 'R3113:Ddx18'

263858

Institutional Source

Beutler Lab

Gene Symbol

Ddx18

Ensembl Gene

ENSMUSG00000001674

Gene Name

DEAD box helicase 18

Synonyms

2310005B10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 18

MMRRC Submission

040586-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R3113 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121481564-121495709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121493877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 36 (S36P)

Ref Sequence

ENSEMBL: ENSMUSP00000001724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001724]

AlphaFold

Q8K363

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001724
AA Change: S36P

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674
AA Change: S36P

Domain	Start	End	E-Value	Type
coiled coil region	2	32	N/A	INTRINSIC
internal_repeat_1	36	75	1.67e-5	PROSPERO
internal_repeat_1	66	105	1.67e-5	PROSPERO
low complexity region	109	117	N/A	INTRINSIC
low complexity region	127	142	N/A	INTRINSIC
DEXDc	188	393	1.95e-56	SMART
low complexity region	401	417	N/A	INTRINSIC
HELICc	429	510	2.84e-26	SMART
DUF4217	550	613	1.65e-26	SMART
low complexity region	620	638	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131471

Meta Mutation Damage Score

0.0696

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (59/59)

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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,372 (GRCm39)	Y248*	probably null	Het
Acta2	T	C	19: 34,220,752 (GRCm39)	I319V	probably benign	Het
Alox15	A	T	11: 70,235,703 (GRCm39)	N585K	probably benign	Het
Ank	T	A	15: 27,571,700 (GRCm39)	I324N	probably damaging	Het
Ank1	A	G	8: 23,574,813 (GRCm39)	N99D	probably damaging	Het
As3mt	T	C	19: 46,703,717 (GRCm39)		probably benign	Het
Atg4b	C	T	1: 93,703,426 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,047,541 (GRCm39)	V705D	probably damaging	Het
Bves	T	C	10: 45,219,148 (GRCm39)	V82A	probably benign	Het
Cad	C	A	5: 31,231,481 (GRCm39)	H7Q	possibly damaging	Het
Carmil1	A	G	13: 24,253,740 (GRCm39)	V387A	probably benign	Het
Csnk2a1	T	A	2: 152,105,134 (GRCm39)	F181Y	probably damaging	Het
Cwc22	A	T	2: 77,754,823 (GRCm39)		probably benign	Het
Dnai2	T	A	11: 114,642,756 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,769,008 (GRCm39)	M765K	probably benign	Het
Fitm2	T	C	2: 163,311,511 (GRCm39)	Y234C	probably damaging	Het
Flrt3	T	C	2: 140,503,454 (GRCm39)	E58G	probably benign	Het
Foxs1	A	G	2: 152,774,156 (GRCm39)	V299A	probably benign	Het
Galnt12	A	G	4: 47,108,415 (GRCm39)	N184S	probably benign	Het
Gata6	T	C	18: 11,063,124 (GRCm39)	L464P	probably damaging	Het
Gm17332	T	C	11: 31,132,384 (GRCm39)	T27A	possibly damaging	Het
Ifna11	A	C	4: 88,738,220 (GRCm39)	M9L	probably benign	Het
Ldb3	T	A	14: 34,251,418 (GRCm39)	*623L	probably null	Het
Lrrc27	A	G	7: 138,798,223 (GRCm39)	D106G	probably damaging	Het
Ly6f	A	G	15: 75,143,577 (GRCm39)	N95D	probably benign	Het
Lyst	A	G	13: 13,844,512 (GRCm39)	I1901V	probably benign	Het
Mboat2	A	G	12: 24,932,718 (GRCm39)	Y70C	probably damaging	Het
Mmut	G	A	17: 41,269,247 (GRCm39)	G610D	probably damaging	Het
Mroh1	T	A	15: 76,292,736 (GRCm39)		probably benign	Het
Muc5b	A	G	7: 141,399,871 (GRCm39)	H448R	unknown	Het
Myh2	A	G	11: 67,076,012 (GRCm39)	N733S	probably damaging	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nlrp1a	A	T	11: 71,014,491 (GRCm39)	I253N	probably damaging	Het
Ocrl	A	G	X: 47,022,304 (GRCm39)	E258G	probably benign	Het
Or2w1	T	A	13: 21,317,299 (GRCm39)	M118K	probably damaging	Het
Or6c2	A	T	10: 129,363,012 (GRCm39)	R305S	probably benign	Het
Pak1	C	A	7: 97,515,321 (GRCm39)	S115*	probably null	Het
Pilrb1	C	T	5: 137,853,195 (GRCm39)	V203I	possibly damaging	Het
Ppfia2	T	A	10: 106,742,256 (GRCm39)	Y1016*	probably null	Het
Prmt3	C	A	7: 49,431,760 (GRCm39)	P121Q	probably damaging	Het
Rhox6	T	A	X: 36,916,507 (GRCm39)	I116N	possibly damaging	Het
Saxo2	A	C	7: 82,292,949 (GRCm39)	F49L	probably benign	Het
Scn2a	A	C	2: 65,579,129 (GRCm39)	D1488A	possibly damaging	Het
Scn5a	T	A	9: 119,314,738 (GRCm39)	D1989V	probably damaging	Het
Sec31b	C	A	19: 44,506,624 (GRCm39)	E905*	probably null	Het
Secisbp2l	A	T	2: 125,592,206 (GRCm39)	F672I	probably damaging	Het
Slc22a23	C	T	13: 34,367,058 (GRCm39)	G650E	probably damaging	Het
Smu1	A	G	4: 40,748,658 (GRCm39)	F211L	probably benign	Het
Spef1l	G	T	7: 139,555,878 (GRCm39)		probably benign	Het
Tab1	C	T	15: 80,032,461 (GRCm39)	L23F	probably benign	Het
Thsd7b	G	A	1: 129,977,599 (GRCm39)	C1078Y	probably benign	Het
Ttn	A	T	2: 76,644,542 (GRCm39)	Y13071N	probably damaging	Het
Usp17ld	A	G	7: 102,899,870 (GRCm39)	V354A	probably benign	Het
Usp31	A	G	7: 121,278,736 (GRCm39)	S210P	probably damaging	Het
Wdr12	T	C	1: 60,126,221 (GRCm39)	D198G	probably benign	Het
Wrap53	A	G	11: 69,454,144 (GRCm39)	V298A	probably benign	Het
Xirp2	A	G	2: 67,340,491 (GRCm39)	I911V	probably benign	Het
Zcchc2	T	C	1: 105,918,752 (GRCm39)	M78T	unknown	Het

Other mutations in Ddx18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Ddx18	APN	1	121,492,315 (GRCm39)	missense	probably benign	0.00
IGL01999:Ddx18	APN	1	121,489,457 (GRCm39)	missense	probably benign	0.19
IGL03056:Ddx18	APN	1	121,492,264 (GRCm39)	missense	probably benign	0.00
IGL03388:Ddx18	APN	1	121,493,652 (GRCm39)	missense	possibly damaging	0.86
R0550:Ddx18	UTSW	1	121,483,104 (GRCm39)	missense	probably benign	0.40
R1883:Ddx18	UTSW	1	121,495,645 (GRCm39)	start gained	probably benign
R1940:Ddx18	UTSW	1	121,482,953 (GRCm39)	missense	probably damaging	1.00
R2169:Ddx18	UTSW	1	121,486,138 (GRCm39)	critical splice donor site	probably null
R3414:Ddx18	UTSW	1	121,489,878 (GRCm39)	missense	probably benign
R3763:Ddx18	UTSW	1	121,489,106 (GRCm39)	missense	probably damaging	0.99
R4011:Ddx18	UTSW	1	121,489,810 (GRCm39)	missense	probably benign	0.01
R4293:Ddx18	UTSW	1	121,489,121 (GRCm39)	missense	probably benign	0.10
R4333:Ddx18	UTSW	1	121,492,331 (GRCm39)	missense	probably benign	0.01
R4964:Ddx18	UTSW	1	121,493,823 (GRCm39)	missense	probably benign	0.00
R5160:Ddx18	UTSW	1	121,493,608 (GRCm39)	critical splice donor site	probably null
R5187:Ddx18	UTSW	1	121,489,857 (GRCm39)	missense	probably damaging	0.98
R5259:Ddx18	UTSW	1	121,495,518 (GRCm39)	critical splice donor site	probably null
R5656:Ddx18	UTSW	1	121,489,087 (GRCm39)	missense	probably damaging	1.00
R7949:Ddx18	UTSW	1	121,483,047 (GRCm39)	missense	probably damaging	1.00
R8291:Ddx18	UTSW	1	121,487,904 (GRCm39)	missense	probably damaging	0.99
R8318:Ddx18	UTSW	1	121,493,816 (GRCm39)	missense	probably benign	0.13
R9053:Ddx18	UTSW	1	121,489,135 (GRCm39)	missense	probably damaging	1.00
R9114:Ddx18	UTSW	1	121,489,267 (GRCm39)	missense	probably damaging	1.00
R9621:Ddx18	UTSW	1	121,489,132 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCGTTGGCTAAAGTTGTGAG -3'
(R):5'- CCGTAAACAGATAGGGTCTTTTGAAG -3'

Sequencing Primer
(F):5'- CTAAAGTTGTGAGTTTCTGGGGTGAC -3'
(R):5'- TTCCATAAAGAAAATGTGCCTTTTC -3'

Posted On

2015-02-05